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 SAMD11 148398 broad.mit.edu 37 1 879297 879297 + Missense_Mutation SNP C C T rs140566193 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:879297C>T uc001abw.1 + 14 1890 c.1810C>T c.(1810-1812)CGC>TGC p.R604C SAMD11_uc001abx.1_Missense_Mutation_p.R467C NM_152486 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 604 SAM. nucleus 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;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;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) GGTGGCCAGGCGCCTGGGCCG 0.672 AGRN 375790 broad.mit.edu 37 1 981392 981392 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:981392C>T uc001ack.1 + 16 2779 c.2729C>T c.(2728-2730)GCG>GTG p.A910V NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 910 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) GAGTTCGGTGCGCGGTGCGTG 0.662 PANK4 55229 broad.mit.edu 37 1 2445456 2445456 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:2445456C>T uc001ajm.1 - 12 1569 c.1560G>A c.(1558-1560)CCG>CCA p.P520P PANK4_uc010nza.1_Silent_p.P481P NM_018216 NP_060686 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 520 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1) 3 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) AGTAGGGATCCGGGAAGTTGA 0.652 PRDM16 63976 broad.mit.edu 37 1 3328750 3328750 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:3328750C>T uc001akf.2 + 9 2069 c.1989C>T c.(1987-1989)GCC>GCT p.A663A PRDM16_uc001akc.2_Silent_p.A663A|PRDM16_uc001akd.2_Silent_p.A663A|PRDM16_uc001ake.2_Silent_p.A663A|PRDM16_uc009vlh.2_Silent_p.A364A NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN PR domain containing 16 isoform 1 663 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) ACAGCGTGGCCGAGGTGCCTG 0.682 T EVI1 MDS|AML CHD5 26038 broad.mit.edu 37 1 6188120 6188120 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:6188120C>T uc001amb.1 - 25 3989 c.3889G>A c.(3889-3891)GAG>AAG p.E1297K CHD5_uc001alz.1_Missense_Mutation_p.E154K|CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1297 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCGTCCTCCTCGCGCACCACG 0.657 PLEKHG5 57449 broad.mit.edu 37 1 6534150 6534150 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:6534150G>A uc001ano.1 - 8 783 c.682C>T c.(682-684)CTG>TTG p.L228L PLEKHG5_uc001ann.1_Silent_p.L209L|PLEKHG5_uc001anq.1_Silent_p.L249L|PLEKHG5_uc001anp.1_Silent_p.L249L|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Silent_p.L12L|PLEKHG5_uc010nzr.1_Silent_p.L241L|PLEKHG5_uc001ank.1_Silent_p.L172L|PLEKHG5_uc009vmb.1_Silent_p.L172L|PLEKHG5_uc001anl.1_Silent_p.L172L|PLEKHG5_uc001anm.1_Silent_p.L172L NM_001042663 NP_001036128 O94827 PKHG5_HUMAN pleckstrin homology domain containing family G 228 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|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) GCTGGCCGCAGAATCGGCAAA 0.672 RERE 473 broad.mit.edu 37 1 8422883 8422883 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:8422883G>A uc001ape.2 - 17 2572 c.1762C>T c.(1762-1764)CGG>TGG p.R588W RERE_uc001apf.2_Missense_Mutation_p.R588W|RERE_uc010nzx.1_Missense_Mutation_p.R320W|RERE_uc001apd.2_Missense_Mutation_p.R34W NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 588 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TGCTTCTTCCGACCACTGCGT 0.622 RERE 473 broad.mit.edu 37 1 8482843 8482843 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:8482843G>A uc001ape.2 - 13 2038 c.1228C>T c.(1228-1230)CAG>TAG p.Q410* RERE_uc001apf.2_Nonsense_Mutation_p.Q410*|RERE_uc010nzx.1_Nonsense_Mutation_p.Q142*|RERE_uc001apd.2_5'UTR NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 410 SANT. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) TTCCCGTACTGCCTGAGTCCC 0.368 CLSTN1 22883 broad.mit.edu 37 1 9804642 9804642 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:9804642T>C uc001aqh.2 - 8 1804 c.1045A>G c.(1045-1047)ATG>GTG p.M349V CLSTN1_uc001aqi.2_Missense_Mutation_p.M339V|CLSTN1_uc010oag.1_Missense_Mutation_p.M349V NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 349 Extracellular (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-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;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) GGCAGGCCCATGGTCCAGTTG 0.647 CASZ1 54897 broad.mit.edu 37 1 10725422 10725422 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:10725422G>T uc001aro.2 - 5 543 c.223C>A c.(223-225)CGG>AGG p.R75R CASZ1_uc001arp.1_Silent_p.R75R|CASZ1_uc009vmx.2_Silent_p.R99R NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a 75 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CGGGGGGCCCGGGCTGCCCCA 0.701 PTCHD2 57540 broad.mit.edu 37 1 11589919 11589919 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:11589919G>T uc001ash.3 + 15 3143 c.3005G>T c.(3004-3006)CGG>CTG p.R1002L NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1002 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) CCGGCGGTGCGGCCACTAGTG 0.622 TNFRSF8 943 broad.mit.edu 37 1 12144597 12144597 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:12144597G>A uc001atq.2 + 2 362 c.140G>A c.(139-141)CGC>CAC p.R47H TNFRSF8_uc010obc.1_Intron NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, 47 TNFR-Cys 1.|Extracellular (Potential). cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1) 5 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-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;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) TGCTGTTACCGCTGCCCCATG 0.567 PDPN 10630 broad.mit.edu 37 1 13933720 13933720 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:13933720C>T uc001avd.2 + 2 397 c.348C>T c.(346-348)GGC>GGT p.G116G PDPN_uc001avc.2_Silent_p.G116G|PDPN_uc009vob.2_5'UTR|PDPN_uc009voc.2_5'UTR|PDPN_uc001ave.2_5'UTR|PDPN_uc001avf.2_5'UTR NM_006474 NP_006465 Q86YL7 PDPN_HUMAN lung type-I cell membrane-associated 40 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) TGGAAGGCGGCGTTGCCATGC 0.522 AGMAT 79814 broad.mit.edu 37 1 15909876 15909876 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:15909876C>T uc001awv.1 - 2 430 c.287G>A c.(286-288)CGC>CAC p.R96H DNAJC16_uc001awu.2_Intron NM_024758 NP_079034 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) precursor 96 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding skin(1) 1 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) TTCCCGGATGCGGCGAGGTCC 0.483 PLEKHM2 23207 broad.mit.edu 37 1 16053855 16053855 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:16053855G>A uc010obo.1 + 9 1515 c.1288G>A c.(1288-1290)GCT>ACT p.A430T NM_015164 NP_055979 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M 430 Golgi organization cytoplasm kinesin binding ovary(1) 1 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) 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) GTGCTCCCGTGCTGAGCCCCC 0.647 ARHGEF19 128272 broad.mit.edu 37 1 16531855 16531855 + Silent SNP C C T rs150897805 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:16531855C>T uc001ayc.1 - 10 1784 c.1647G>A c.(1645-1647)GCG>GCA p.A549A ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_Silent_p.A26A NM_153213 NP_694945 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 549 DH. 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) CCTCCTTGAGCGCATTGAAGG 0.612 PADI4 23569 broad.mit.edu 37 1 17682614 17682614 + Missense_Mutation SNP G G A rs142426054 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:17682614G>A uc001baj.2 + 12 1475 c.1447G>A c.(1447-1449)GAC>AAC p.D483N NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 483 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) GCCAGCACCCGACAGGAAGGT 0.592 UBR4 23352 broad.mit.edu 37 1 19500110 19500110 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:19500110G>T uc001bbi.2 - 23 2992 c.2988C>A c.(2986-2988)GCC>GCA p.A996A UBR4_uc001bbm.1_Silent_p.A207A NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 996 Helical; (Potential). interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GAAGGGCACAGGCCTCCTGGA 0.433 PQLC2 54896 broad.mit.edu 37 1 19653763 19653763 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:19653763G>A uc001bby.2 + 8 1013 c.661G>A c.(661-663)GCG>ACG p.A221T PQLC2_uc001bbz.2_Missense_Mutation_p.A156T|PQLC2_uc001bca.2_Missense_Mutation_p.A221T|PQLC2_uc001bcb.2_Missense_Mutation_p.A110T|PQLC2_uc001bcc.2_Missense_Mutation_p.A110T NM_017765 NP_060235 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 isoform 1 221 PQ-loop 2.|Helical; (Potential). integral to membrane 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTCTCTGTTCGCGCTGGTGAT 0.557 PLA2G2F 64600 broad.mit.edu 37 1 20471085 20471085 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:20471085C>A uc009vpp.1 + 4 425 c.327C>A c.(325-327)GCC>GCA p.A109A NM_022819 NP_073730 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 66 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) GCTGCCACGCCCACGACTGCT 0.507 NBPF3 84224 broad.mit.edu 37 1 21771652 21771652 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:21771652G>A uc001ber.2 + 2 423 c.73G>A c.(73-75)GGT>AGT p.G25S NBPF3_uc001bes.2_5'UTR|NBPF3_uc009vqb.2_Missense_Mutation_p.G25S|NBPF3_uc010odm.1_Missense_Mutation_p.G25S NM_032264 NP_115640 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 25 cytoplasm upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TTCCCCATTCGGTGCACCAAG 0.587 EPHA8 2046 broad.mit.edu 37 1 22924273 22924273 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:22924273C>T uc001bfx.1 + 11 2160 c.2035C>T c.(2035-2037)CGG>TGG p.R679W NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 679 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 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;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GAGACAGAGGCGGGACTTCCT 0.652 EXTL1 2134 broad.mit.edu 37 1 26349804 26349804 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:26349804G>A uc001blf.2 + 1 1534 c.667G>A c.(667-669)GGG>AGG p.G223R NM_004455 NP_004446 Q92935 EXTL1_HUMAN exostoses-like 1 223 Lumenal (Potential). skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1) 1 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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) CCCCCAGCCCGGGGTAGCCCT 0.687 DHDDS 79947 broad.mit.edu 37 1 26795565 26795565 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:26795565G>T uc001bml.2 + 9 1066 c.945G>T c.(943-945)CAG>CAT p.Q315H DHDDS_uc001bmk.2_Missense_Mutation_p.Q316H|DHDDS_uc001bmm.2_Missense_Mutation_p.Q222H|DHDDS_uc001bmn.2_Missense_Mutation_p.Q276H|DHDDS_uc010ofd.1_Missense_Mutation_p.Q281H|uc001bmo.1_5'Flank NM_205861 NP_995583 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase isoform b 315 protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups breast(3) 3 all_cancers(24;2.04e-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;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) GCTTCCTGCAGGCCTTGGAAC 0.642 RPS6KA1 6195 broad.mit.edu 37 1 26898685 26898685 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:26898685C>T uc001bmr.1 + 20 2011 c.1848C>T c.(1846-1848)AAC>AAT p.N616N RPS6KA1_uc010ofe.1_Silent_p.N524N|RPS6KA1_uc010off.1_3'UTR|RPS6KA1_uc001bms.1_Silent_p.N625N|RPS6KA1_uc009vsl.1_Silent_p.N459N NM_002953 NP_002944 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 616 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|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 binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CATTTGCCAACGGTCCCAGTG 0.567 C1orf172 126695 broad.mit.edu 37 1 27278809 27278809 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:27278809C>T uc001bni.1 - 2 152 c.63G>A c.(61-63)CGG>CGA p.R21R NM_152365 NP_689578 Q8NAX2 CA172_HUMAN hypothetical protein LOC126695 21 Pro-rich. large_intestine(1)|ovary(1) 2 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;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GCTCTGTTGGCCGCTCCCACG 0.647 WDTC1 23038 broad.mit.edu 37 1 27624505 27624505 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:27624505A>G uc009vst.2 + 12 1670 c.1135A>G c.(1135-1137)ACC>GCC p.T379A WDTC1_uc001bno.2_Missense_Mutation_p.T378A|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_Missense_Mutation_p.T57A NM_015023 NP_055838 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 379 TPR 1. protein binding ovary(1)|central_nervous_system(1) 2 all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476) CCAGCAGTGGACCCAAGCCAT 0.552 FGR 2268 broad.mit.edu 37 1 27939440 27939440 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:27939440G>A uc001boj.2 - 11 1721 c.1575C>T c.(1573-1575)CCC>CCT p.P525P FGR_uc001boi.2_Silent_p.P228P|FGR_uc001bok.2_Silent_p.P525P|FGR_uc001bol.2_Silent_p.P525P|FGR_uc001bom.2_Silent_p.P525P NM_005248 NP_005239 P09769 FGR_HUMAN proto-oncogene tyrosine-protein kinase FGR 525 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) TCTGATCCCCGGGCTGGTACT 0.617 PEF1 553115 broad.mit.edu 37 1 32096220 32096220 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:32096220C>T uc001bth.1 - 5 861 c.849G>A c.(847-849)ATG>ATA p.M283I HCRTR1_uc010ogl.1_Intron|PEF1_uc001bte.1_3'UTR|PEF1_uc001btf.1_Missense_Mutation_p.M122I|PEF1_uc001btg.1_Missense_Mutation_p.M213I NM_012392 NP_036524 Q9UBV8 PEF1_HUMAN penta-EF-hand domain containing 1 283 EF-hand 5.|Required for interaction with PDCD6. response to calcium ion cytoplasm|membrane calcium ion binding|protein heterodimerization activity 0 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186) STAD - Stomach adenocarcinoma(196;0.0546) TGGGTCATAGCATCCGAGAAG 0.532 KIAA1522 57648 broad.mit.edu 37 1 33235610 33235610 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:33235610C>T uc001bvv.2 + 6 789 c.653C>T c.(652-654)GCG>GTG p.A218V KIAA1522_uc001bvu.1_Missense_Mutation_p.A277V|KIAA1522_uc010ohm.1_Missense_Mutation_p.A229V|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 218 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TCCCTGCAGGCGCTGGAGGCG 0.706 KIAA1522 57648 broad.mit.edu 37 1 33236271 33236271 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:33236271T>C uc001bvv.2 + 6 1450 c.1314T>C c.(1312-1314)CCT>CCC p.P438P KIAA1522_uc001bvu.1_Silent_p.P497P|KIAA1522_uc010ohm.1_Silent_p.P449P|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 438 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TGAAGCGGCCTCCACCCCCTC 0.652 ADC 113451 broad.mit.edu 37 1 33547940 33547940 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:33547940C>A uc001bwr.2 + 4 677 c.90C>A c.(88-90)GCC>GCA p.A30A ADC_uc001bws.2_Silent_p.A30A|ADC_uc009vue.2_Silent_p.A30A|ADC_uc001bwt.1_5'UTR|ADC_uc001bwu.2_Intron|ADC_uc001bwv.2_Intron|ADC_uc001bww.2_5'UTR|ADC_uc001bwx.1_5'UTR|ADC_uc001bwz.1_Silent_p.A30A|ADC_uc009vuf.1_Silent_p.A30A|ADC_uc001bwy.1_5'UTR|ADC_uc009vug.2_Silent_p.A30A NM_052998 NP_443724 Q96A70 ADC_HUMAN ODC antizyme inhibitor-2 30 MAGYLSESDFVMVEEGFSTRDLLKELTLGASQATT -> QQ GSSVASTEPGSGTWKDHGWHAQGASWMGSHIHPLLVIQ (in Ref. 3; BAB85531). polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) CTCTGGGGGCCTCACAGGCCA 0.622 TRIM62 55223 broad.mit.edu 37 1 33613029 33613029 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:33613029C>T uc001bxb.2 - 5 1815 c.1177G>A c.(1177-1179)GAT>AAT p.D393N NM_018207 NP_060677 Q9BVG3 TRI62_HUMAN tripartite motif-containing 62 393 B30.2/SPRY. intracellular zinc ion binding 0 Myeloproliferative disorder(586;0.0393) TGGTTGCCATCGTGCATCACG 0.617 CSMD2 114784 broad.mit.edu 37 1 34401390 34401390 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:34401390G>A uc001bxn.1 - 4 592 c.563C>T c.(562-564)ACG>ATG p.T188M CSMD2_uc001bxm.1_Missense_Mutation_p.T228M NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 188 Sushi 1.|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) GAAGTCCCACGTGGCGCTGTT 0.627 GJB4 127534 broad.mit.edu 37 1 35227549 35227549 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:35227549G>A uc001bxv.1 + 2 1064 c.694G>A c.(694-696)GAT>AAT p.D232N GJB4_uc001bxw.3_Missense_Mutation_p.D232N NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4 232 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane gap junction channel activity ovary(2)|central_nervous_system(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) ATGCCTACCCGATACGTGCCC 0.622 GJA4 2701 broad.mit.edu 37 1 35260154 35260154 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:35260154C>T uc001bya.2 + 2 428 c.340C>T c.(340-342)CGG>TGG p.R114W GJA4_uc009vul.2_Missense_Mutation_p.R190W|GJA4_uc009vum.1_Missense_Mutation_p.R114W NM_002060 NP_002051 P35212 CXA4_HUMAN connexin 37 114 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) GGGGGAGCTGCGGGCACTGCC 0.652 EIF2C1 26523 broad.mit.edu 37 1 36379454 36379454 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:36379454C>T uc001bzl.2 + 13 1807 c.1594C>T c.(1594-1596)CGT>TGT p.R532C EIF2C1_uc001bzk.2_Missense_Mutation_p.R457C|EIF2C1_uc009vuy.2_RNA NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 532 Piwi. negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGAGGTGAAACGTGTCGGAGA 0.348 ZC3H12A 80149 broad.mit.edu 37 1 37948615 37948615 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:37948615A>G uc001cbb.3 + 6 1353 c.1203A>G c.(1201-1203)TCA>TCG p.S401S ZC3H12A_uc001cbc.1_Silent_p.S196S NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 401 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) ATGCCCCATCAGGCAGGAGCC 0.632 POU3F1 5453 broad.mit.edu 37 1 38511579 38511579 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:38511579C>T uc001ccp.1 - 1 872 c.837G>A c.(835-837)GCG>GCA p.A279A NM_002699 NP_002690 Q03052 PO3F1_HUMAN POU domain, class 3, transcription factor 1 279 POU-specific. positive regulation of transcription, DNA-dependent sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GCGTGCCCAGCGCCAGCCCCA 0.632 NT5C1A 84618 broad.mit.edu 37 1 40137681 40137681 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:40137681C>T uc001cdq.1 - 1 30 c.30G>A c.(28-30)CAG>CAA p.Q10Q NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 10 Missing (in Ref. 2; AAK30000). 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) CGCGGGGCTCCTGGGGCTCCC 0.721 TRIT1 54802 broad.mit.edu 37 1 40309784 40309784 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:40309784C>T uc010oiz.1 - 10 1237 c.1223G>A c.(1222-1224)CGC>CAC p.R408H TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.R104H|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.R162H|TRIT1_uc001ceh.3_Missense_Mutation_p.R162H|TRIT1_uc009vvv.2_Missense_Mutation_p.R241H|TRIT1_uc001cei.3_Missense_Mutation_p.R162H|TRIT1_uc001ceq.2_Missense_Mutation_p.R104H|TRIT1_uc001cek.2_Missense_Mutation_p.R104H|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.R326H|TRIT1_uc001cen.2_Missense_Mutation_p.R162H|TRIT1_uc001ceo.2_Missense_Mutation_p.R162H|TRIT1_uc001cep.2_Missense_Mutation_p.R162H NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 precursor 408 Matrin-type. tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity ovary(1) 1 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TGCCCATTCGCGATCCCCAAT 0.448 TIE1 7075 broad.mit.edu 37 1 43777469 43777469 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:43777469G>A uc001ciu.2 + 10 1540 c.1461G>A c.(1459-1461)CAG>CAA p.Q487Q TIE1_uc010okd.1_Silent_p.Q487Q|TIE1_uc010oke.1_Silent_p.Q442Q|TIE1_uc009vwq.2_Silent_p.Q443Q|TIE1_uc010okf.1_Silent_p.Q132Q|TIE1_uc010okg.1_Silent_p.Q132Q NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 487 Extracellular (Potential).|Fibronectin type-III 1. 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) ACCGGCCCCAGGACAGTACCA 0.607 RNF220 55182 broad.mit.edu 37 1 44877961 44877961 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:44877961C>T uc001clv.1 + 2 552 c.192C>T c.(190-192)AAC>AAT p.N64N RNF220_uc001clw.1_Silent_p.N64N NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 64 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CTTTCACCAACGGTTCCTATA 0.547 RNF220 55182 broad.mit.edu 37 1 45111136 45111136 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:45111136C>T uc001clv.1 + 12 1781 c.1421C>T c.(1420-1422)ACC>ATC p.T474I RNF220_uc001clw.1_Missense_Mutation_p.T474I|RNF220_uc010oky.1_Missense_Mutation_p.T261I|RNF220_uc010okz.1_Missense_Mutation_p.T216I|RNF220_uc001clx.1_Missense_Mutation_p.T190I|RNF220_uc001cly.1_Missense_Mutation_p.T154I|RNF220_uc001clz.1_Missense_Mutation_p.T153I|RNF220_uc001cma.1_Missense_Mutation_p.T153I|TMEM53_uc001cmb.1_Missense_Mutation_p.V62I NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 474 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 ATGCAGAAGACCTGCAAGAAC 0.592 TOE1 114034 broad.mit.edu 37 1 45808309 45808309 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:45808309G>A uc009vxq.2 + 6 1329 c.746G>A c.(745-747)CGG>CAG p.R249Q MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.R169Q|TOE1_uc010oln.1_Missense_Mutation_p.R255Q|TOE1_uc001cnr.3_RNA NM_025077 NP_079353 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 249 nuclear speck|nucleolus nucleic acid binding|zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) TATGCCTTCCGGAAATGGTGA 0.378 LRRC41 10489 broad.mit.edu 37 1 46745205 46745205 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:46745205T>C uc001cpn.2 - 8 2146 c.2102A>G c.(2101-2103)AAC>AGC p.N701S LRRC41_uc010omb.1_Missense_Mutation_p.N701S NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein 701 LRR 6. ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) CAGTGTGGAGTTGCCCTTCAT 0.557 TAL1 6886 broad.mit.edu 37 1 47691535 47691535 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:47691535G>A uc001cqx.2 - 2 603 c.26C>T c.(25-27)GCG>GTG p.A9V TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Missense_Mutation_p.A9V|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron NM_003189 NP_003180 P17542 TAL1_HUMAN T-cell acute lymphocytic leukemia 1 9 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity lung(1) 1 ACTGCGAGCCGCCTCGCTCGG 0.716 T TRD@|SIL lymphoblastic leukemia/biphasic ZFYVE9 9372 broad.mit.edu 37 1 52803538 52803538 + Silent SNP G G A rs146867741 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:52803538G>A uc001cto.2 + 16 3937 c.3765G>A c.(3763-3765)GCG>GCA p.A1255A ZFYVE9_uc001ctp.2_Silent_p.A1196A NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 1255 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 GTGGGAAGGCGGACGCGGAGG 0.527 PRPF38A 84950 broad.mit.edu 37 1 52881019 52881019 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:52881019G>A uc001ctv.3 + 9 1060 c.857G>A c.(856-858)CGT>CAT p.R286H PRPF38A_uc001ctw.3_Missense_Mutation_p.V97I NM_032864 NP_116253 Q8NAV1 PR38A_HUMAN PRP38 pre-mRNA processing factor 38 (yeast) 286 Arg-rich. mRNA processing|RNA splicing spliceosomal complex 0 GGTCATCACCGTAGTCACAGA 0.423 ACOT11 26027 broad.mit.edu 37 1 55065021 55065021 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:55065021C>T uc001cxm.1 + 8 899 c.817C>T c.(817-819)CGA>TGA p.R273* ACOT11_uc001cxj.1_Nonsense_Mutation_p.R151*|ACOT11_uc001cxl.1_Nonsense_Mutation_p.R273* NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN thioesterase, adipose associated isoform BFIT1 273 Coenzyme A binding (By similarity).|Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity central_nervous_system(1) 1 GTTCCACTTCCGAGGCCCGTC 0.612 BSND 7809 broad.mit.edu 37 1 55472881 55472881 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:55472881G>A uc001cye.2 + 3 727 c.484G>A c.(484-486)GTG>ATG p.V162M NM_057176 NP_476517 Q8WZ55 BSND_HUMAN barttin 162 Cytoplasmic (Potential). basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex ovary(1)|skin(1) 2 GGAGGCTGCCGTGGTCATCCA 0.642 C8B 732 broad.mit.edu 37 1 57406539 57406539 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:57406539C>A uc001cyp.2 - 9 1448 c.1381G>T c.(1381-1383)GCC>TCC p.A461S C8B_uc010oon.1_Missense_Mutation_p.A399S|C8B_uc010ooo.1_Missense_Mutation_p.A409S NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 461 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 TTGATGATGGCTGGGTTGTAC 0.547 INADL 10207 broad.mit.edu 37 1 62257034 62257034 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:62257034T>C uc001dab.2 + 9 1197 c.1083T>C c.(1081-1083)TTT>TTC p.F361F INADL_uc009waf.1_Silent_p.F361F|INADL_uc001daa.2_Silent_p.F361F|INADL_uc001dad.3_Silent_p.F58F NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 361 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 GTTCTCTTTTTGAAACTTATA 0.333 INADL 10207 broad.mit.edu 37 1 62594546 62594546 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:62594546C>T uc001dab.2 + 41 5314 c.5200C>T c.(5200-5202)CCT>TCT p.P1734S INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.P518S NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1734 PDZ 10. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 TAACGGGCAACCTTTGGATGG 0.443 JAK1 3716 broad.mit.edu 37 1 65301079 65301079 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:65301079C>A uc001dbu.1 - 24 3618 c.3369G>T c.(3367-3369)GAG>GAT p.E1123D JAK1_uc009wam.1_Missense_Mutation_p.E1111D|JAK1_uc009wal.1_Missense_Mutation_p.E300D NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 1123 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) CCATAGATACCTCATCTGGAC 0.468 Mis ALL IL23R 149233 broad.mit.edu 37 1 67666539 67666539 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:67666539T>C uc001ddo.2 + 5 696 c.611T>C c.(610-612)ATG>ACG p.M204T IL23R_uc009waz.2_Missense_Mutation_p.M1T|IL23R_uc001ddp.2_RNA|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Intron|IL23R_uc010opk.1_Missense_Mutation_p.M161T|IL23R_uc010opl.1_Intron|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Intron|IL23R_uc010opn.1_Missense_Mutation_p.M49T|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Missense_Mutation_p.M63T|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Missense_Mutation_p.M63T|IL23R_uc010opr.1_RNA|IL23R_uc010ops.1_Missense_Mutation_p.M1T|IL23R_uc010opt.1_5'UTR|IL23R_uc010opu.1_Missense_Mutation_p.M1T|IL23R_uc010opv.1_Missense_Mutation_p.M63T|IL23R_uc010opw.1_Intron|IL23R_uc010opx.1_Intron|IL23R_uc010opy.1_Missense_Mutation_p.M1T|IL23R_uc010opz.1_Intron|IL23R_uc010oqa.1_5'UTR|IL23R_uc010oqb.1_Missense_Mutation_p.M63T|IL23R_uc010oqc.1_Intron|IL23R_uc010oqd.1_Intron|IL23R_uc010oqe.1_5'UTR|IL23R_uc010oqf.1_5'UTR|IL23R_uc010oqg.1_5'UTR|IL23R_uc010oqh.1_Intron NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor 204 Extracellular (Potential).|Fibronectin type-III 1. 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 GCACTAGGCATGGAAGAGTCA 0.388 LRRC7 57554 broad.mit.edu 37 1 70509673 70509673 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:70509673A>G uc001dep.2 + 20 3922 c.3892A>G c.(3892-3894)ATG>GTG p.M1298V LRRC7_uc009wbg.2_Missense_Mutation_p.M582V|LRRC7_uc001deq.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1298 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TAACCTTGGCATGCTGCCCTA 0.393 ELTD1 64123 broad.mit.edu 37 1 79403534 79403534 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:79403534A>C uc001diq.3 - 6 874 c.718T>G c.(718-720)TTC>GTC p.F240V NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 240 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) GTCTTTTGGAAGCTCTGGGAT 0.348 PKN2 5586 broad.mit.edu 37 1 89206691 89206691 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:89206691G>A uc001dmn.2 + 2 411 c.69G>A c.(67-69)CCG>CCA p.P23P PKN2_uc001dmm.1_Silent_p.P23P|PKN2_uc010osp.1_Silent_p.P23P|PKN2_uc010osq.1_Intron|PKN2_uc009wcv.2_Silent_p.P23P NM_006256 NP_006247 Q16513 PKN2_HUMAN protein kinase N2 23 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) GAAGTCTTCCGTTTTCTGAGA 0.378 FNBP1L 54874 broad.mit.edu 37 1 94016562 94016562 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:94016562G>T uc001dpw.2 + 14 1536 c.1536G>T c.(1534-1536)GAG>GAT p.E512D FNBP1L_uc001dpv.2_Missense_Mutation_p.E512D|FNBP1L_uc010otk.1_Missense_Mutation_p.E390D|FNBP1L_uc010otl.1_Missense_Mutation_p.E122D NM_001024948 NP_001020119 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like isoform 1 570 Interaction with DNM2 and WASL.|Interaction with DNM1.|SH3.|Interaction with DAAM1, DIAPH1 and DIAPH2. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding 0 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) TTATAGAGGAGGACAAAGGTG 0.403 LPPR4 9890 broad.mit.edu 37 1 99771804 99771804 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:99771804C>T uc001dse.2 + 7 1636 c.1530C>T c.(1528-1530)CCC>CCT p.P510P LPPR4_uc010oue.1_Silent_p.P452P NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 510 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) GCGCTGTCCCCGGATGTAACA 0.552 COL11A1 1301 broad.mit.edu 37 1 103573701 103573701 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:103573701G>A uc001dul.2 - 1 352 c.34C>T c.(34-36)CGG>TGG p.R12W COL11A1_uc001dum.2_Missense_Mutation_p.R12W|COL11A1_uc001dun.2_Missense_Mutation_p.R12W|COL11A1_uc009weh.2_Missense_Mutation_p.R12W NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 12 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) CAGAGCCACCGTTTCGTTTTC 0.532 NTNG1 22854 broad.mit.edu 37 1 107867123 107867123 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:107867123C>T uc001dvh.3 + 3 1184 c.466C>T c.(466-468)CGT>TGT p.R156C NTNG1_uc001dvf.3_Missense_Mutation_p.R156C|NTNG1_uc010out.1_Missense_Mutation_p.R156C|NTNG1_uc001dvc.3_Missense_Mutation_p.R156C|NTNG1_uc001dvd.1_Missense_Mutation_p.R156C NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 156 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) TGAATCTGGGCGTCCAGACCA 0.448 GPR61 83873 broad.mit.edu 37 1 110086062 110086062 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:110086062C>T uc001dxy.2 + 2 1101 c.418C>T c.(418-420)CGC>TGC p.R140C NM_031936 NP_114142 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 140 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(2) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) CAATGTGGAGCGCTACTATTA 0.612 RBM15 64783 broad.mit.edu 37 1 110883440 110883440 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:110883440G>A uc001dzl.1 + 1 1496 c.1413G>A c.(1411-1413)CTG>CTA p.L471L RBM15_uc001dzm.1_Silent_p.L471L|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 471 RRM 3. 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) TTGCTGCCCTGGCACGAGAAT 0.498 T MKL1 acute megakaryocytic leukemia WARS2 10352 broad.mit.edu 37 1 119575715 119575715 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:119575715C>T uc001ehn.2 - 6 930 c.902G>A c.(901-903)CGC>CAC p.R301H WARS2_uc010oxf.1_Missense_Mutation_p.R207H|WARS2_uc001ehm.2_3'UTR|WARS2_uc010oxg.1_Missense_Mutation_p.R244H|WARS2_uc010oxh.1_3'UTR NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN mitochondrial tryptophanyl tRNA synthetase 2 301 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) CAGCTTGTAGCGAGCAGTGTT 0.577 SF3B4 10262 broad.mit.edu 37 1 149898777 149898777 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:149898777T>C uc001etj.1 - 3 248 c.197A>G c.(196-198)GAT>GGT p.D66G SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.D66G|SF3B4_uc009wll.1_Missense_Mutation_p.D66G NM_005850 NP_005841 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4 66 RRM 1. nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding ovary(1) 1 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ATAGTCAGCATCTTCCTCACT 0.418 CGN 57530 broad.mit.edu 37 1 151495931 151495931 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:151495931T>C uc009wmw.2 + 6 1306 c.1162T>C c.(1162-1164)TCC>CCC p.S388P NM_020770 NP_065821 Q9P2M7 CING_HUMAN cingulin 382 Interacts with ZO-2.|Glu-rich.|Potential. 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) GCTAGAGCCATCCCAAGTTGG 0.537 TCHH 7062 broad.mit.edu 37 1 152081372 152081372 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:152081372G>A uc001ezp.2 - 2 4321 c.4321C>T c.(4321-4323)CGC>TGC p.R1441C TCHH_uc009wne.1_Missense_Mutation_p.R1441C NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1441 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTTCCTGGCGGCGCACCTGC 0.577 OREG0031687 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) SPRR3 6707 broad.mit.edu 37 1 152975993 152975993 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:152975993C>T uc001fax.3 + 3 647 c.497C>T c.(496-498)ACC>ATC p.T166I SPRR3_uc001faz.3_Missense_Mutation_p.T166I|SPRR3_uc001fay.2_Missense_Mutation_p.T158I NM_005416 NP_005407 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 166 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) CAGCAGAAGACCAAGCAGAAG 0.507 NPR1 4881 broad.mit.edu 37 1 153657486 153657486 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:153657486C>T uc001fcs.3 + 8 1952 c.1531C>T c.(1531-1533)CGC>TGC p.R511C NPR1_uc010pdz.1_Missense_Mutation_p.R257C|NPR1_uc010pea.1_Missense_Mutation_p.R15C NM_000906 NP_000897 P16066 ANPRA_HUMAN natriuretic peptide receptor 1 precursor 511 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) GTGGCGGGTGCGCTGGGAGGA 0.642 ASH1L 55870 broad.mit.edu 37 1 155448115 155448115 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:155448115G>A uc009wqq.2 - 3 5026 c.4546C>T c.(4546-4548)CGC>TGC p.R1516C ASH1L_uc001fkt.2_Missense_Mutation_p.R1516C|ASH1L_uc009wqr.1_Missense_Mutation_p.R1516C NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 1516 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) AATCTATAGCGCTTCAAAGAT 0.473 UBQLN4 56893 broad.mit.edu 37 1 156020124 156020124 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:156020124A>G uc001fna.2 - 4 723 c.699T>C c.(697-699)CCT>CCC p.P233P UBQLN4_uc010pgx.1_Silent_p.P213P NM_020131 NP_064516 Q9NRR5 UBQL4_HUMAN ataxin-1 ubiquitin-like interacting protein 233 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding pancreas(1)|skin(1) 2 Hepatocellular(266;0.133)|all_neural(408;0.195) GGCTGATCTCAGGGTTCCGCT 0.562 NTRK1 4914 broad.mit.edu 37 1 156844801 156844801 + Splice_Site SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:156844801G>A uc001fqh.1 + 11 1410 c.1354_splice c.e11+1 p.R452_splice NTRK1_uc001fqf.1_Splice_Site_p.R416_splice|NTRK1_uc009wsi.1_Splice_Site_p.R151_splice|NTRK1_uc001fqi.1_Splice_Site_p.R446_splice|NTRK1_uc009wsk.1_Splice_Site_p.R446_splice NM_002529 NP_002520 P04629 NTRK1_HUMAN neurotrophic tyrosine kinase, receptor, type 1 activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(9)|ovary(6)|stomach(1)|central_nervous_system(1) 17 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) Imatinib(DB00619) GGGATCAACCGTGAGTCGGGG 0.567 T TPM3|TPR|TFG papillary thyroid TSP Lung(10;0.080) ARHGEF11 9826 broad.mit.edu 37 1 156931470 156931470 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:156931470G>A uc001fqo.2 - 13 2158 c.1118C>T c.(1117-1119)GCG>GTG p.A373V ARHGEF11_uc001fqn.2_Missense_Mutation_p.A413V NM_014784 NP_055599 O15085 ARHGB_HUMAN Rho guanine nucleotide exchange factor (GEF) 11 373 RGSL. actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction cytosol|Golgi apparatus|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1) 9 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGCCTTACCGCATTTTTCTC 0.413 FCRL5 83416 broad.mit.edu 37 1 157488559 157488559 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:157488559A>G uc001fqu.2 - 14 2832 c.2674T>C c.(2674-2676)TCG>CCG p.S892P FCRL5_uc009wsm.2_Missense_Mutation_p.S892P NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 892 Cytoplasmic (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) TGGGAGTCCGAGTCTGAAGGG 0.483 FCRL1 115350 broad.mit.edu 37 1 157767978 157767978 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:157767978C>A uc001frg.2 - 8 1200 c.1087G>T c.(1087-1089)GGG>TGG p.G363W FCRL1_uc001frf.2_RNA|FCRL1_uc001frh.2_Missense_Mutation_p.G363W|FCRL1_uc001fri.2_Missense_Mutation_p.G324W|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 363 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) TGTAGCTGCCCTGGGGTAGGT 0.502 OR6Y1 391112 broad.mit.edu 37 1 158517426 158517426 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:158517426C>T uc010pil.1 - 1 470 c.470G>A c.(469-471)GGA>GAA p.G157E NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGTCATGAGTCCACAGAACCA 0.468 OR6K2 81448 broad.mit.edu 37 1 158669761 158669761 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:158669761G>A uc001fsu.1 - 1 682 c.682C>T c.(682-684)CGT>TGT p.R228C NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 228 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GAATGAATACGTAGAATTACA 0.458 IFI16 3428 broad.mit.edu 37 1 159021772 159021772 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:159021772C>T uc001ftg.2 + 9 2091 c.1801C>T c.(1801-1803)CGA>TGA p.R601* IFI16_uc010pis.1_Nonsense_Mutation_p.R601*|IFI16_uc001fth.2_Nonsense_Mutation_p.R144*|IFI16_uc010pit.1_Nonsense_Mutation_p.R200* NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 657 HIN-200 2. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) GAATGCTGACCGAAACATGGA 0.428 KCNJ10 3766 broad.mit.edu 37 1 160012305 160012305 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:160012305C>A uc001fuw.1 - 2 168 c.18G>T c.(16-18)AAG>AAT p.K6N NM_002241 NP_002232 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily 6 Cytoplasmic (By similarity). integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTAATACACCTTGGCAACTG 0.537 ATP1A2 477 broad.mit.edu 37 1 160098840 160098840 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:160098840C>T uc001fvc.2 + 10 1419 c.1287C>T c.(1285-1287)GCC>GCT p.A429A ATP1A2_uc001fvb.2_Silent_p.A429A|ATP1A2_uc001fvd.2_Silent_p.A165A|ATP1A2_uc009wtg.1_Silent_p.A117A NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 429 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) GCAACCGCGCCGTCTTCAAGG 0.582 ATP1A4 480 broad.mit.edu 37 1 160125856 160125856 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:160125856T>C uc001fve.3 + 4 912 c.433T>C c.(433-435)TCC>CCC p.S145P ATP1A4_uc001fvf.3_RNA NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 145 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) CATCGTACTGTCCGTCGTGGT 0.502 ADAMTS4 9507 broad.mit.edu 37 1 161161324 161161324 + Silent SNP G G A rs148326772 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:161161324G>A uc001fyt.3 - 9 2546 c.2118C>T c.(2116-2118)CCC>CCT p.P706P NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 706 Spacer. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TGGCCCCCGCGGGGATAGTGA 0.577 FCGR2C 9103 broad.mit.edu 37 1 161569498 161569498 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:161569498G>A uc001gav.2 + 8 976 c.877G>A c.(877-879)GGC>AGC p.G293S NM_201563 NP_963857 Fc fragment of IgG, low affinity IIc, receptor 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGCTGACGGCGGCTACATGAC 0.269 OLFML2B 25903 broad.mit.edu 37 1 161967829 161967829 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:161967829A>C uc001gbu.2 - 6 1684 c.1260T>G c.(1258-1260)ACT>ACG p.T420T OLFML2B_uc010pkq.1_Silent_p.T421T NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 420 p.T420I(1) skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TGTGGGCCACAGTGGTGGCTG 0.607 F5 2153 broad.mit.edu 37 1 169513570 169513570 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:169513570G>A uc001ggg.1 - 12 2084 c.1939C>T c.(1939-1941)CGT>TGT p.R647C NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 647 Plastocyanin-like 4.|F5/8 type A 2. 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) GATTCTCCACGCATGGGGAAG 0.468 C1orf129 80133 broad.mit.edu 37 1 170967433 170967433 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:170967433T>C uc001ghg.2 + 15 1744 c.1614T>C c.(1612-1614)TGT>TGC p.C538C C1orf129_uc009wvy.2_Silent_p.C345C|C1orf129_uc010plz.1_Intron NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 538 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTGTAGACTGTGAACAGCTGT 0.383 DARS2 55157 broad.mit.edu 37 1 173807354 173807354 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:173807354G>A uc001gjh.1 + 9 1207 c.797G>A c.(796-798)CGA>CAA p.R266Q NM_018122 NP_060592 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 266 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) CGATGTTATCGAGATGAAGGT 0.338 ZNF648 127665 broad.mit.edu 37 1 182025570 182025570 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:182025570G>A uc001goz.2 - 2 1784 c.1576C>T c.(1576-1578)CAC>TAC p.H526Y NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 526 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCTCCGTTGTGCATTCGTATG 0.617 LAMC1 3915 broad.mit.edu 37 1 183090856 183090856 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:183090856A>G uc001gpy.3 + 12 2248 c.1991_splice c.e12-2 p.S664_splice NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 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) CACTATACACAGGTGCTGGAT 0.473 HMCN1 83872 broad.mit.edu 37 1 185963965 185963965 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:185963965G>A uc001grq.1 + 24 3753 c.3524G>A c.(3523-3525)CGT>CAT p.R1175H NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1175 Ig-like C2-type 9. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AAGATACAGCGTGGACCTAAA 0.393 CFH 3075 broad.mit.edu 37 1 196658606 196658606 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:196658606C>T uc001gtj.3 + 8 1261 c.1021C>T c.(1021-1023)CGT>TGT p.R341C CFH_uc001gti.3_Missense_Mutation_p.R341C|CFH_uc009wyw.2_Intron|CFH_uc009wyx.2_Missense_Mutation_p.R277C NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 341 Sushi 6. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 TGAGAATATGCGTAGACCATA 0.318 ASPM 259266 broad.mit.edu 37 1 197074096 197074096 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:197074096A>G uc001gtu.2 - 18 4542 c.4285T>C c.(4285-4287)TCT>CCT p.S1429P ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 1429 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 CTGAACATAGATTGGATTATA 0.328 CRB1 23418 broad.mit.edu 37 1 197390635 197390635 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:197390635C>A uc001gtz.2 + 6 1812 c.1677C>A c.(1675-1677)TCC>TCA p.S559S CRB1_uc010poz.1_Silent_p.S490S|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Silent_p.S447S|CRB1_uc010ppb.1_Silent_p.S559S|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Silent_p.S40S|CRB1_uc001gub.1_Silent_p.S208S NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 559 Extracellular (Potential).|Laminin G-like 1. 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 TGTTCATTTCCCACAACACCA 0.458 KIF21B 23046 broad.mit.edu 37 1 200944729 200944729 + Silent SNP G G A rs139284658 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:200944729G>A uc001gvs.1 - 33 4829 c.4512C>T c.(4510-4512)TAC>TAT p.Y1504Y KIF21B_uc001gvr.1_Silent_p.Y1491Y|KIF21B_uc009wzl.1_Silent_p.Y1504Y|KIF21B_uc010ppn.1_Silent_p.Y1491Y NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1504 WD 5. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 CGATGCCATCGTAGTGCGGGG 0.612 NAV1 89796 broad.mit.edu 37 1 201781709 201781709 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:201781709G>A uc001gwu.2 + 26 5479 c.5132G>A c.(5131-5133)CGG>CAG p.R1711Q NAV1_uc001gwx.2_Missense_Mutation_p.R1320Q NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 1714 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 GAGCTGCTTCGGGTGCTCGAC 0.552 IPO9 55705 broad.mit.edu 37 1 201827606 201827606 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:201827606C>T uc001gwz.2 + 12 1303 c.1253C>T c.(1252-1254)GCA>GTA p.A418V NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 418 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 AATGAAAGTGCAGCAGCCCTG 0.448 PTPN7 5778 broad.mit.edu 37 1 202119538 202119538 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:202119538C>T uc001gxm.1 - 9 1021 c.890G>A c.(889-891)CGG>CAG p.R297Q PTPN7_uc001gxl.1_Missense_Mutation_p.R336Q|PTPN7_uc001gxn.1_Missense_Mutation_p.R297Q|PTPN7_uc010ppv.1_Missense_Mutation_p.R116Q|PTPN7_uc010ppw.1_Missense_Mutation_p.R245Q|PTPN7_uc010ppx.1_Missense_Mutation_p.R371Q|PTPN7_uc010ppy.1_RNA|PTPN7_uc001gxo.1_Missense_Mutation_p.R249Q NM_002832 NP_002823 P35236 PTN7_HUMAN protein tyrosine phosphatase, non-receptor type 297 Substrate binding.|Tyrosine-protein phosphatase. cytosol|internal side of plasma membrane protein binding|protein tyrosine phosphatase activity skin(1) 1 GCAGCCCGTCCGGCCAATCCC 0.572 KLHL12 59349 broad.mit.edu 37 1 202880242 202880242 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:202880242T>C uc001gyo.1 - 5 857 c.657A>G c.(655-657)CTA>CTG p.L219L KLHL12_uc001gym.1_5'Flank|KLHL12_uc001gyn.1_Silent_p.L69L|KLHL12_uc010pqc.1_Silent_p.L257L|KLHL12_uc009xah.1_Silent_p.L219L NM_021633 NP_067646 Q53G59 KLH12_HUMAN kelch-like 12 219 Wnt receptor signaling pathway protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.166) GCACATACTGTAGCAGGTTAG 0.478 MYOG 4656 broad.mit.edu 37 1 203054644 203054644 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:203054644C>T uc001gzd.2 - 1 734 c.446G>A c.(445-447)CGG>CAG p.R149Q NM_002479 NP_002470 P15173 MYOG_HUMAN myogenin 149 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity skin(2) 2 GCCCCCGCCCCGGTAGCGGAG 0.697 PRELP 5549 broad.mit.edu 37 1 203455842 203455842 + Missense_Mutation SNP G G A rs147252422 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:203455842G>A uc001gzs.2 + 3 1182 c.982G>A c.(982-984)GGA>AGA p.G328R PRELP_uc001gzt.2_Missense_Mutation_p.G328R NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 328 LRR 11. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) AGAAATCAACGGAACCCAGAT 0.562 CD34 947 broad.mit.edu 37 1 208073210 208073210 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:208073210T>C uc001hgw.1 - 2 476 c.218A>G c.(217-219)CAC>CGC p.H73R CD34_uc001hgx.1_Missense_Mutation_p.H73R|CD34_uc010psj.1_Missense_Mutation_p.T23A NM_001025109 NP_001020280 P28906 CD34_HUMAN CD34 antigen isoform a 73 Extracellular (Potential). cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding ovary(1) 1 AGACACAGGGTGCAGGCTGGT 0.458 PLXNA2 5362 broad.mit.edu 37 1 208391092 208391092 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:208391092G>A uc001hgz.2 - 2 934 c.176C>T c.(175-177)ACG>ATG p.T59M PLXNA2_uc001hha.3_Missense_Mutation_p.T113M NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 59 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) GACGGCCCCCGTCCCTTGGTG 0.597 KCNH1 3756 broad.mit.edu 37 1 210948744 210948744 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:210948744G>T uc001hib.2 - 10 2228 c.2058C>A c.(2056-2058)GCC>GCA p.A686A KCNH1_uc001hic.2_Silent_p.A659A NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 686 Cytoplasmic (Potential).|cNMP.|Calmodulin-binding. 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) AATGGGAGAAGGCCGTGTAGA 0.493 RCOR3 55758 broad.mit.edu 37 1 211447588 211447588 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:211447588G>A uc001hig.2 + 3 333 c.164G>A c.(163-165)GGC>GAC p.G55D RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.G113D|RCOR3_uc010psw.1_Missense_Mutation_p.G113D|RCOR3_uc001hif.2_Missense_Mutation_p.G113D NM_018254 NP_060724 Q9P2K3 RCOR3_HUMAN REST corepressor 3 isoform d 55 ELM2. 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) GAAAAGCATGGCTACAATGTG 0.323 RCOR3 55758 broad.mit.edu 37 1 211469067 211469067 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:211469067G>A uc001hig.2 + 8 984 c.815G>A c.(814-816)GGT>GAT p.G272D RCOR3_uc010psv.1_RNA|RCOR3_uc001hie.2_Missense_Mutation_p.G330D|RCOR3_uc010psw.1_Missense_Mutation_p.G330D|RCOR3_uc001hif.2_Missense_Mutation_p.G330D NM_018254 NP_060724 Q9P2K3 RCOR3_HUMAN REST corepressor 3 isoform d 272 Potential. 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) AAAATGGAAGGTGGAATTGAA 0.348 PTPN14 5784 broad.mit.edu 37 1 214557534 214557534 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:214557534G>A uc001hkk.1 - 13 1935 c.1664C>T c.(1663-1665)ACG>ATG p.T555M PTPN14_uc010pty.1_Missense_Mutation_p.T456M NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 555 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) CATGTGGGCCGTGCTGTAGTT 0.637 HHIPL2 79802 broad.mit.edu 37 1 222713546 222713546 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:222713546C>T uc001hnh.1 - 4 1314 c.1256G>A c.(1255-1257)AGG>AAG p.R419K NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 419 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) CCACATGTTCCTGATCCCATA 0.612 DISP1 84976 broad.mit.edu 37 1 223177682 223177682 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:223177682C>T uc001hnu.1 + 8 3090 c.2943C>T c.(2941-2943)TCC>TCT p.S981S NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 981 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) ATAGCCTCTCCGATGGCACCC 0.502 CAPN2 824 broad.mit.edu 37 1 223947077 223947077 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:223947077T>C uc001hob.3 + 12 1647 c.1423T>C c.(1423-1425)TTC>CTC p.F475L CAPN2_uc010puy.1_Missense_Mutation_p.F397L|CAPN2_uc001hoc.2_Missense_Mutation_p.F56L NM_001748 NP_001739 P17655 CAN2_HUMAN calpain 2 isoform 1 475 Domain III. proteolysis cytoplasm|plasma membrane lung(3)|breast(1)|skin(1) 5 GBM - Glioblastoma multiforme(131;0.109) GCTCAACCGCTTCAAGCTGCC 0.542 LBR 3930 broad.mit.edu 37 1 225592337 225592337 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:225592337T>C uc001hoy.2 - 12 1698 c.1555A>G c.(1555-1557)AAG>GAG p.K519E LBR_uc001hoz.2_Missense_Mutation_p.K519E NM_002296 NP_002287 Q14739 LBR_HUMAN lamin B receptor 519 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) CGTGCAAGCTTTGGATCACTG 0.279 LIN9 286826 broad.mit.edu 37 1 226420811 226420811 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:226420811G>A uc001hqa.2 - 14 1867 c.1557C>T c.(1555-1557)GAC>GAT p.D519D LIN9_uc001hqb.2_Silent_p.D484D|LIN9_uc001hqc.2_Silent_p.D451D|LIN9_uc009xel.1_Silent_p.D484D NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog 503 cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) TATTAGAAGCGTCTATTGTAC 0.313 OBSCN 84033 broad.mit.edu 37 1 228437869 228437869 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:228437869T>C uc009xez.1 + 14 4281 c.4237T>C c.(4237-4239)TGC>CGC p.C1413R OBSCN_uc001hsn.2_Missense_Mutation_p.C1413R NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1413 Ig-like 14. C -> G (in Ref. 1; CAC85746/CAC85749). 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) GCAGCAGGCATGCCAGGCGGA 0.647 OBSCN 84033 broad.mit.edu 37 1 228525668 228525668 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:228525668C>T uc009xez.1 + 67 16868 c.16824C>T c.(16822-16824)ACC>ACT p.T5608T OBSCN_uc001hsn.2_Silent_p.T5608T|OBSCN_uc001hsr.1_Silent_p.T236T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 5608 SH3. 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) ACGTGGTCACCGCTGACTACC 0.632 OBSCN 84033 broad.mit.edu 37 1 228527685 228527685 + Silent SNP C C T rs142093978 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:228527685C>T uc009xez.1 + 70 17342 c.17298C>T c.(17296-17298)GAC>GAT p.D5766D OBSCN_uc001hsn.2_Silent_p.D5766D|OBSCN_uc001hsr.1_Silent_p.D395D 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) CGGACGACGACGTGGCCATGT 0.637 URB2 9816 broad.mit.edu 37 1 229771402 229771402 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:229771402C>A uc001hts.1 + 4 1178 c.1042C>A c.(1042-1044)CTG>ATG p.L348M URB2_uc009xfd.1_Missense_Mutation_p.L348M NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 348 nucleolus central_nervous_system(2)|ovary(1) 3 GAGCAAAGCCCTGTCCACATC 0.488 HEATR1 55127 broad.mit.edu 37 1 236760162 236760162 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:236760162C>T uc001hyd.1 - 6 843 c.718G>A c.(718-720)GCC>ACC p.A240T NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 240 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) AATAGTTTGGCGATGATATTG 0.433 FMN2 56776 broad.mit.edu 37 1 240371409 240371409 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:240371409G>A uc010pyd.1 + 5 3522 c.3297G>A c.(3295-3297)CCG>CCA p.P1099P FMN2_uc010pye.1_Silent_p.P1103P NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1099 Pro-rich.|FH1. 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) TACCCCCTCCGCCCCCTCTAC 0.731 FMN2 56776 broad.mit.edu 37 1 240601495 240601495 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:240601495T>G uc010pyd.1 + 16 5270 c.5045T>G c.(5044-5046)CTT>CGT p.L1682R FMN2_uc010pye.1_Missense_Mutation_p.L1686R|FMN2_uc010pyg.1_Missense_Mutation_p.L278R NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1682 Potential.|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) GAGAACAAACTTCTTCTACAA 0.408 ZNF238 10472 broad.mit.edu 37 1 244218133 244218133 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:244218133C>T uc001iae.2 + 1 1552 c.1030C>T c.(1030-1032)CGT>TGT p.R344C ZNF238_uc001iad.3_Missense_Mutation_p.R353C|ZNF238_uc001iaf.1_3'UTR NM_006352 NP_006343 Q99592 ZN238_HUMAN zinc finger protein 238 isoform 2 344 Interaction with DNMT3A. 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) AGAGAGCGAGCGTGTCCAGGT 0.627 KIF26B 55083 broad.mit.edu 37 1 245704240 245704240 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:245704240G>T uc001ibf.1 + 5 1778 c.1338G>T c.(1336-1338)CCG>CCT p.P446P KIF26B_uc010pyq.1_Silent_p.P446P|KIF26B_uc001ibg.1_Silent_p.P64P NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN kinesin family member 26B 446 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) AGGACACCCCGGGGCTGGGCA 0.597 ZMYND11 10771 broad.mit.edu 37 10 286020 286020 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:286020C>T uc010pzt.1 + 8 1150 c.722C>T c.(721-723)GCG>GTG p.A241V ZMYND11_uc001ifk.2_Missense_Mutation_p.A240V|ZMYND11_uc010pzu.1_Missense_Mutation_p.A241V|ZMYND11_uc010pzv.1_Missense_Mutation_p.A186V|ZMYND11_uc010pzw.1_Missense_Mutation_p.A156V|ZMYND11_uc001ifm.2_Missense_Mutation_p.A187V|ZMYND11_uc010pzx.1_Missense_Mutation_p.A241V|ZMYND11_uc001ifn.2_Missense_Mutation_p.A187V|ZMYND11_uc009xhg.2_Missense_Mutation_p.A224V|ZMYND11_uc009xhh.2_Missense_Mutation_p.A141V|ZMYND11_uc010pzy.1_Intron NM_006624 NP_006615 Q15326 ZMY11_HUMAN zinc finger, MYND domain containing 11 isoform 201 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) GCTGACATTGCGAGGATGCTA 0.328 DIP2C 22982 broad.mit.edu 37 10 410451 410451 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:410451G>A uc001ifp.2 - 20 2430 c.2340C>T c.(2338-2340)TTC>TTT p.F780F DIP2C_uc009xhi.1_Silent_p.F166F|DIP2C_uc010pzz.1_Silent_p.F101F NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 780 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) CGGGACCCACGAACCCCAGCA 0.617 FBXO18 84893 broad.mit.edu 37 10 5951237 5951237 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:5951237G>A uc001iis.2 + 5 1095 c.1000G>A c.(1000-1002)GAC>AAC p.D334N FBXO18_uc001iir.2_Missense_Mutation_p.D260N|FBXO18_uc009xig.2_Missense_Mutation_p.D260N|FBXO18_uc001iit.2_Missense_Mutation_p.D385N NM_178150 NP_835363 Q8NFZ0 FBX18_HUMAN F-box only protein, helicase, 18 isoform 2 334 DNA repair nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(2)|skin(1) 3 ACACCTCCCCGACCTCTACGC 0.602 PFKFB3 5209 broad.mit.edu 37 10 6274870 6274870 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:6274870T>C uc001ije.2 + 15 1912 c.1528T>C c.(1528-1530)TCC>CCC p.S510P PFKFB3_uc001ijd.2_Missense_Mutation_p.S490P|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.S524P|PFKFB3_uc001ijf.2_3'UTR|PFKFB3_uc001ijg.2_RNA|PFKFB3_uc009xij.2_RNA|PFKFB3_uc009xik.2_RNA|PFKFB3_uc009xil.2_RNA NM_004566 NP_004557 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2, 510 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(2)|central_nervous_system(1) 3 CATGAAAGGCTCCCGGAGCAG 0.537 ITIH5 80760 broad.mit.edu 37 10 7657989 7657989 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:7657989C>T uc001ijq.2 - 7 974 c.895G>A c.(895-897)GTG>ATG p.V299M ITIH5_uc001ijp.2_Missense_Mutation_p.V85M|ITIH5_uc001ijr.1_Missense_Mutation_p.V299M NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 299 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CTGTCAAGCACGAATACCACA 0.473 MCM10 55388 broad.mit.edu 37 10 13213015 13213015 + Missense_Mutation SNP G G A rs150335901 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:13213015G>A uc001ima.2 + 3 202 c.101G>A c.(100-102)CGG>CAG p.R34Q MCM10_uc001imb.2_Missense_Mutation_p.R34Q|MCM10_uc001imc.2_Missense_Mutation_p.R34Q NM_182751 NP_877428 Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 34 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 TTCTTGACGCGGGAAAATGGC 0.488 CDNF 441549 broad.mit.edu 37 10 14862006 14862006 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:14862006T>C uc001inb.1 - 4 575 c.537A>G c.(535-537)GCA>GCG p.A179A CDNF_uc010qbv.1_3'UTR|CDNF_uc001inc.1_Silent_p.A70A NM_001029954 NP_001025125 Q49AH0 CDNF_HUMAN arginine-rich, mutated in early stage 179 extracellular region growth factor activity 0 GGTGTGTCGCTGCATACTTGG 0.478 ITGA8 8516 broad.mit.edu 37 10 15649742 15649742 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:15649742G>A uc001ioc.1 - 17 1698 c.1698C>T c.(1696-1698)CGC>CGT p.R566R ITGA8_uc010qcb.1_Silent_p.R551R NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 566 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 GAGGGAAGACGCGATGAGCCT 0.453 ENKUR 219670 broad.mit.edu 37 10 25279480 25279480 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:25279480T>C uc001isg.1 - 4 671 c.506A>G c.(505-507)CAA>CGA p.Q169R ENKUR_uc001ish.1_Missense_Mutation_p.Q107R NM_145010 NP_659447 Q8TC29 ENKUR_HUMAN enkurin 169 cilium|flagellum calmodulin binding|SH3 domain binding 0 ATAGTCTTCTTGGGCTTTCTT 0.373 YME1L1 10730 broad.mit.edu 37 10 27400933 27400933 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:27400933A>G uc001iti.2 - 20 2477 c.2295T>C c.(2293-2295)CTT>CTC p.L765L YME1L1_uc001itj.2_Silent_p.L708L|YME1L1_uc010qdl.1_Silent_p.L675L|YME1L1_uc009xkv.2_RNA NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 765 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 TTTTCCCCTCAAGAACAATTT 0.368 SVIL 6840 broad.mit.edu 37 10 29769643 29769643 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:29769643G>A uc001iut.1 - 29 5953 c.5200C>T c.(5200-5202)CGT>TGT p.R1734C LOC387647_uc001iup.2_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.R648C|SVIL_uc001iuu.1_Missense_Mutation_p.R1308C|SVIL_uc009xlc.2_Missense_Mutation_p.R526C NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 1734 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) CCATAGCCACGGCCGACGTTC 0.577 KIAA1462 57608 broad.mit.edu 37 10 30315149 30315149 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:30315149G>A uc001iux.2 - 2 3987 c.3928C>T c.(3928-3930)CGT>TGT p.R1310C KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.R1172C|KIAA1462_uc009xle.1_Missense_Mutation_p.R1310C NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 1310 ovary(4) 4 CTCTGGGCACGGTCCCCACTG 0.617 KIAA1462 57608 broad.mit.edu 37 10 30318056 30318056 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:30318056C>T uc001iux.2 - 2 1080 c.1021G>A c.(1021-1023)GTG>ATG p.V341M KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.V203M|KIAA1462_uc009xle.1_Missense_Mutation_p.V341M NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 341 Pro-rich. ovary(4) 4 GGCGGAGGCACGTACACTGGA 0.582 C10orf68 79741 broad.mit.edu 37 10 33134495 33134495 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:33134495A>G uc001iwn.3 + 15 1663 c.1190A>G c.(1189-1191)TAT>TGT p.Y397C C10orf68_uc001iwl.1_Missense_Mutation_p.Y356C|C10orf68_uc001iwm.1_Missense_Mutation_p.Y401C|C10orf68_uc010qei.1_Missense_Mutation_p.Y373C|C10orf68_uc001iwo.3_RNA NM_024688 NP_078964 Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 397 skin(2)|ovary(1) 3 TTCTTTGCCTATGCTACTGGA 0.308 ITGB1 3688 broad.mit.edu 37 10 33209310 33209310 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:33209310G>T uc001iws.3 - 10 1268 c.1132C>A c.(1132-1134)CTT>ATT p.L378I ITGB1_uc001iwp.3_Missense_Mutation_p.L378I|ITGB1_uc001iwq.3_Missense_Mutation_p.L378I|ITGB1_uc001iwr.3_Missense_Mutation_p.L378I|ITGB1_uc001iwt.3_Missense_Mutation_p.L378I|ITGB1_uc001iwu.1_Missense_Mutation_p.L378I NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 378 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) TCTGAGGAAAGGGACTAAAAG 0.353 PARD3 56288 broad.mit.edu 37 10 34620201 34620201 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:34620201C>T uc010qej.1 - 19 2686 c.2686G>A c.(2686-2688)GCA>ACA p.A896T PARD3_uc010qek.1_Missense_Mutation_p.A893T|PARD3_uc010qel.1_Missense_Mutation_p.A896T|PARD3_uc010qem.1_Missense_Mutation_p.A880T|PARD3_uc010qen.1_Missense_Mutation_p.A850T|PARD3_uc010qeo.1_Missense_Mutation_p.A850T|PARD3_uc010qep.1_Missense_Mutation_p.A806T|PARD3_uc010qeq.1_Missense_Mutation_p.A821T|PARD3_uc001ixo.1_Missense_Mutation_p.A609T|PARD3_uc001ixp.1_Missense_Mutation_p.A727T|PARD3_uc001ixq.1_Missense_Mutation_p.A850T|PARD3_uc001ixr.1_Missense_Mutation_p.A893T|PARD3_uc001ixt.1_Missense_Mutation_p.A714T|PARD3_uc001ixu.1_Missense_Mutation_p.A838T|PARD3_uc001ixs.1_Missense_Mutation_p.A519T NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 896 Interacts with PRKCZ (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) TCGGCAACTGCGGTCTGCAGA 0.517 RET 5979 broad.mit.edu 37 10 43600617 43600617 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:43600617C>T uc001jal.2 + 4 1033 c.843C>T c.(841-843)GCC>GCT p.A281A RET_uc001jak.1_Silent_p.A281A|RET_uc010qez.1_Silent_p.A27A NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 281 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) CCGCCAGCGCCGTGGTGGAGT 0.667 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 RET 5979 broad.mit.edu 37 10 43615133 43615133 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:43615133C>T uc001jal.2 + 14 2737 c.2547C>T c.(2545-2547)GGC>GGT p.G849G RET_uc001jak.1_Silent_p.G849G|RET_uc010qez.1_Silent_p.G595G NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 849 Protein kinase.|Cytoplasmic (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) TCACCATGGGCGACCTCATCT 0.632 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 TMEM72 643236 broad.mit.edu 37 10 45430248 45430248 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:45430248C>T uc001jbn.2 + 5 691 c.494C>T c.(493-495)ACA>ATA p.T165I uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.T47I NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN transmembrane protein 72 165 integral to membrane 0 TCTGGGGACACAGAGCAAACC 0.597 RASSF4 83937 broad.mit.edu 37 10 45478063 45478063 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:45478063T>C uc001jbo.2 + 4 367 c.233T>C c.(232-234)GTG>GCG p.V78A RASSF4_uc001jbp.2_Missense_Mutation_p.V109A|RASSF4_uc009xmn.2_Missense_Mutation_p.V8A|RASSF4_uc001jbq.2_Missense_Mutation_p.C6R|RASSF4_uc001jbt.2_Missense_Mutation_p.V8A NM_032023 NP_114412 Q9H2L5 RASF4_HUMAN Ras association domain family 4 78 cell cycle|signal transduction protein binding large_intestine(1) 1 CGGGAGCAGGTGCACCTCCCC 0.642 ALOX5 240 broad.mit.edu 37 10 45907734 45907734 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:45907734T>C uc001jce.2 + 4 626 c.527T>C c.(526-528)GTG>GCG p.V176A ALOX5_uc009xmt.2_Missense_Mutation_p.V176A|ALOX5_uc010qfg.1_Missense_Mutation_p.V176A NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 176 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) GAAAAAGGAGTGGACTTTGTT 0.522 RBP3 5949 broad.mit.edu 37 10 48388658 48388658 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:48388658G>A uc001jez.2 - 1 2334 c.2220C>T c.(2218-2220)CCC>CCT p.P740P NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 740 4 X approximate tandem repeats.|3. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) CCAGCTGGCCGGGCAGCACCT 0.627 GDF10 2662 broad.mit.edu 37 10 48426628 48426628 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:48426628C>T uc001jfb.2 - 3 1835 c.1379G>A c.(1378-1380)CGG>CAG p.R460Q GDF10_uc009xnp.2_Missense_Mutation_p.R459Q NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 460 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 AACCACATTCCGATTCTCATC 0.582 OREG0020165 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) GDF10 2662 broad.mit.edu 37 10 48429418 48429418 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:48429418G>A uc001jfb.2 - 2 924 c.468C>T c.(466-468)AAC>AAT p.N156N GDF10_uc009xnp.2_Silent_p.N155N|GDF10_uc009xnq.1_Silent_p.N156N NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 156 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 GGCCTGAAGCGTTCTTGGCCC 0.667 ARHGAP22 58504 broad.mit.edu 37 10 49658392 49658392 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:49658392G>A uc001jgt.2 - 9 2077 c.1780C>T c.(1780-1782)CGC>TGC p.R594C ARHGAP22_uc001jgs.2_Missense_Mutation_p.R504C|ARHGAP22_uc001jgu.2_Missense_Mutation_p.R610C|ARHGAP22_uc010qgl.1_Missense_Mutation_p.R551C|ARHGAP22_uc010qgm.1_Missense_Mutation_p.R600C|ARHGAP22_uc001jgv.2_Missense_Mutation_p.R292C|ARHGAP22_uc001jgr.2_Missense_Mutation_p.R311C NM_021226 NP_067049 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 2 594 Potential. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity ovary(1) 1 TCGGAGCGGCGCGCGTGTTCC 0.682 C10orf71 118461 broad.mit.edu 37 10 50532147 50532147 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:50532147C>A uc010qgp.1 + 3 1896 c.1557C>A c.(1555-1557)CTC>CTA p.L519L NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 519 0 CCTCACCTCTCTTGAAAGTGC 0.507 OGDHL 55753 broad.mit.edu 37 10 50953529 50953529 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:50953529C>T uc001jie.2 - 12 1632 c.1490G>A c.(1489-1491)CGG>CAG p.R497Q OGDHL_uc009xog.2_Missense_Mutation_p.R524Q|OGDHL_uc010qgt.1_Missense_Mutation_p.R440Q|OGDHL_uc010qgu.1_Missense_Mutation_p.R288Q|OGDHL_uc009xoh.2_Missense_Mutation_p.R288Q 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 GTGGCCACGCCGGCGGTAACA 0.572 ANK3 288 broad.mit.edu 37 10 61831926 61831926 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:61831926G>A uc001jky.2 - 37 8905 c.8713C>T c.(8713-8715)CGC>TGC p.R2905C 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 2905 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 AACAATTTGCGTTCTCTCTCA 0.358 ANK3 288 broad.mit.edu 37 10 61833923 61833923 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:61833923C>T uc001jky.2 - 37 6908 c.6716G>A c.(6715-6717)CGT>CAT p.R2239H 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 2239 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TTCTTTAACACGCATGCCTTT 0.413 RHOBTB1 9886 broad.mit.edu 37 10 62648135 62648135 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:62648135C>T uc001jli.2 - 7 1729 c.1291G>A c.(1291-1293)GTG>ATG p.V431M RHOBTB1_uc001jlh.2_Missense_Mutation_p.V431M|RHOBTB1_uc001jlj.2_Missense_Mutation_p.V431M|RHOBTB1_uc001jlk.2_Missense_Mutation_p.V431M|RHOBTB1_uc009xpe.1_Missense_Mutation_p.V369M|RHOBTB1_uc001jll.2_Missense_Mutation_p.V181M NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 431 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) GCCAGGCCCACCAAATCCTTT 0.502 EGR2 1959 broad.mit.edu 37 10 64573473 64573473 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:64573473C>T uc010qim.1 - 3 1079 c.925G>A c.(925-927)GCC>ACC p.A309T EGR2_uc010qin.1_Missense_Mutation_p.A259T|EGR2_uc001jmi.2_Missense_Mutation_p.A309T|EGR2_uc010qio.1_Missense_Mutation_p.A322T|EGR2_uc009xph.2_Missense_Mutation_p.A309T NM_001136177 NP_001129649 P11161 EGR2_HUMAN early growth response 2 protein isoform a 309 Poly-Ala. fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) GGGTTATAGGCGGCGGCGGCG 0.701 JMJD1C 221037 broad.mit.edu 37 10 64949189 64949189 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:64949189C>T uc001jmn.2 - 18 6609 c.6309G>A c.(6307-6309)CGG>CGA p.R2103R JMJD1C_uc001jml.2_Silent_p.R1866R|JMJD1C_uc001jmm.2_Silent_p.R1815R|JMJD1C_uc010qiq.1_Silent_p.R1921R|JMJD1C_uc009xpi.2_Silent_p.R1921R|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc001jmo.2_Silent_p.R10R NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 2103 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) TAGGCATAGTCCGTCCACTTT 0.313 SIRT1 23411 broad.mit.edu 37 10 69669161 69669161 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:69669161G>A uc001jnd.2 + 7 1372 c.1319G>A c.(1318-1320)GGG>GAG p.G440E SIRT1_uc010qis.1_Missense_Mutation_p.G145E|SIRT1_uc009xpp.2_Missense_Mutation_p.G248E|SIRT1_uc001jne.2_Missense_Mutation_p.G137E NM_012238 NP_036370 Q96EB6 SIRT1_HUMAN sirtuin 1 isoform a 440 Deacetylase sirtuin-type. 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 ATTGTTATTGGGTCTTCCCTC 0.373 TYSND1 219743 broad.mit.edu 37 10 71905285 71905285 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:71905285C>T uc001jqr.2 - 1 1212 c.1058G>A c.(1057-1059)GGC>GAC p.G353D TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_Missense_Mutation_p.G353D|TYSND1_uc001jqt.2_Intron NM_173555 NP_775826 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 isoform a 353 Serine protease. proteolysis peroxisome serine-type endopeptidase activity large_intestine(1) 1 CCATACGGTGCCGCACTCCAC 0.721 KIAA1274 27143 broad.mit.edu 37 10 72300969 72300969 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:72300969G>A uc001jrd.3 + 16 2301 c.2020G>A c.(2020-2022)GTG>ATG p.V674M KIAA1274_uc001jre.3_Translation_Start_Site NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 674 ovary(2)|central_nervous_system(1) 3 TGCGATGGTGGTGGCTGTCCT 0.627 KIAA1274 27143 broad.mit.edu 37 10 72324139 72324139 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:72324139C>T uc001jrd.3 + 19 2563 c.2282C>T c.(2281-2283)GCG>GTG p.A761V KIAA1274_uc001jre.3_Missense_Mutation_p.A52V NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 761 ovary(2)|central_nervous_system(1) 3 GCGAAAGAGGCGCAAGAAATG 0.617 PRF1 5551 broad.mit.edu 37 10 72358408 72358408 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:72358408G>A uc009xqg.2 - 3 1230 c.1069C>T c.(1069-1071)CGG>TGG p.R357W PRF1_uc001jrf.3_Missense_Mutation_p.R357W NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 357 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 AGTGCCTCCCGCCGCGGGTCC 0.701 M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis ADAMTS14 140766 broad.mit.edu 37 10 72520166 72520166 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:72520166G>A uc001jrh.2 + 22 3229 c.3229G>A c.(3229-3231)GAT>AAT p.D1077N ADAMTS14_uc001jrg.2_Missense_Mutation_p.D1080N NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 1077 PLAC. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 GGAAGTGCTCGATCGCTACTG 0.512 CHST3 9469 broad.mit.edu 37 10 73767333 73767333 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:73767333G>A uc001jsn.2 + 3 984 c.544G>A c.(544-546)GCG>ACG p.A182T NM_004273 NP_004264 Q7LGC8 CHST3_HUMAN chondroitin 6-sulfotransferase 3 182 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity 0 CGCCAACGCCGCGGGCTCGGC 0.652 CCDC109A 90550 broad.mit.edu 37 10 74645550 74645550 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:74645550G>A uc001jtc.2 + 8 1047 c.1026G>A c.(1024-1026)CTG>CTA p.L342L CCDC109A_uc009xqr.2_Silent_p.L321L|CCDC109A_uc001jtd.2_Silent_p.L293L NM_138357 NP_612366 Q8NE86 MCU_HUMAN coiled-coil domain containing 109A 342 Mitochondrial matrix (Potential). elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding 0 Prostate(51;0.0198) AAGTACATCTGCCTCTCCGAC 0.398 KIAA0913 23053 broad.mit.edu 37 10 75545818 75545818 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:75545818G>T uc009xrl.2 + 1 214 c.182G>T c.(181-183)GGT>GTT p.G61V KIAA0913_uc009xrk.1_3'UTR|KIAA0913_uc001jve.2_Missense_Mutation_p.G61V|KIAA0913_uc001jvf.2_Missense_Mutation_p.G61V|uc009xrm.1_5'Flank NM_015037 NP_055852 A7E2V4 K0913_HUMAN hypothetical protein LOC23053 61 Poly-Gly. zinc ion binding breast(1) 1 Prostate(51;0.0112) GGTGGCGGAGGTGGCAGTGGC 0.677 VCL 7414 broad.mit.edu 37 10 75832550 75832550 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:75832550C>T uc001jwd.2 + 5 656 c.562C>T c.(562-564)CGA>TGA p.R188* VCL_uc009xrr.2_5'UTR|VCL_uc010qky.1_Nonsense_Mutation_p.R95*|VCL_uc001jwe.2_Nonsense_Mutation_p.R188*|VCL_uc010qkz.1_Intron NM_014000 NP_054706 P18206 VINC_HUMAN vinculin isoform meta-VCL 188 N-terminal globular head.|Talin-interaction (By similarity). adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) kidney(4)|ovary(1)|central_nervous_system(1) 6 Prostate(51;0.0112) CCAGGAGCACCGAGTGATGTT 0.473 VCL 7414 broad.mit.edu 37 10 75848967 75848967 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:75848967T>C uc001jwd.2 + 9 1130 c.1036T>C c.(1036-1038)TCA>CCA p.S346P VCL_uc009xrr.2_Missense_Mutation_p.S95P|VCL_uc010qky.1_Missense_Mutation_p.S253P|VCL_uc001jwe.2_Missense_Mutation_p.S346P|VCL_uc010qkz.1_Intron NM_014000 NP_054706 P18206 VINC_HUMAN vinculin isoform meta-VCL 346 1.|N-terminal globular head.|3 X 112 AA tandem repeats. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) kidney(4)|ovary(1)|central_nervous_system(1) 6 Prostate(51;0.0112) ACAAGGATCCTCACCGGTGGC 0.468 DLG5 9231 broad.mit.edu 37 10 79556237 79556237 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:79556237A>C uc001jzk.2 - 28 5350 c.5280T>G c.(5278-5280)GCT>GCG p.A1760A DLG5_uc001jzi.2_Silent_p.A515A|DLG5_uc001jzj.2_Silent_p.A1175A|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1760 Guanylate kinase-like. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) ACTTGCCAGGAGCCTCATTCA 0.602 ZMIZ1 57178 broad.mit.edu 37 10 81067236 81067236 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:81067236A>G uc001kaf.2 + 23 3315 c.2743A>G c.(2743-2745)ATG>GTG p.M915V ZMIZ1_uc001kag.2_Missense_Mutation_p.M791V|ZMIZ1_uc010qlq.1_Missense_Mutation_p.M68V NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 915 Pro-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) GAATGACTTCATGCACGGGCC 0.607 NRG3 10718 broad.mit.edu 37 10 83635508 83635508 + Missense_Mutation SNP G G A rs150882245 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:83635508G>A uc001kco.2 + 1 439 c.412G>A c.(412-414)GCC>ACC p.A138T NRG3_uc010qlz.1_Missense_Mutation_p.A138T|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 138 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 lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) cacgtcccccgccaccccctc 0.517 LRIT1 26103 broad.mit.edu 37 10 85994017 85994017 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:85994017C>T uc001kcz.1 - 3 729 c.707G>A c.(706-708)CGT>CAT p.R236H NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 236 LRRCT.|Lumenal (Potential). integral to endoplasmic reticulum membrane 0 GGCCAGGCTACGTGGGCTGGC 0.587 RGR 5995 broad.mit.edu 37 10 86008679 86008679 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:86008679C>T uc001kdc.1 + 3 276 c.238C>T c.(238-240)CGC>TGC p.R80C RGR_uc001kdb.1_Missense_Mutation_p.A67V|RGR_uc001kdd.1_Missense_Mutation_p.R84C|RGR_uc001kde.1_Missense_Mutation_p.R80C NM_001012720 NP_001012738 P47804 RGR_HUMAN retinal G-protein coupled receptor isoform 2 80 Extracellular (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding ovary(1) 1 CTCCCACAGGCGCTGGCCCTA 0.637 LDB3 11155 broad.mit.edu 37 10 88476506 88476506 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:88476506G>A uc001kdv.2 + 9 1677 c.1654G>A c.(1654-1656)GGT>AGT p.G552S LDB3_uc010qml.1_Missense_Mutation_p.G489S|LDB3_uc010qmm.1_Missense_Mutation_p.G557S|LDB3_uc001kdu.2_Missense_Mutation_p.G442S|LDB3_uc009xsz.2_Missense_Mutation_p.G181S|LDB3_uc009xta.1_5'Flank NM_007078 NP_009009 O75112 LDB3_HUMAN LIM domain binding 3 isoform 1 552 LIM zinc-binding 1. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding ovary(1) 1 TCCACTCTGCGGTCACTGCAA 0.657 RNLS 55328 broad.mit.edu 37 10 90342849 90342849 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:90342849C>A uc001kfe.2 - 1 234 c.99G>T c.(97-99)TGG>TGT p.W33C RNLS_uc010qms.1_Missense_Mutation_p.W33C|RNLS_uc001kfd.2_Missense_Mutation_p.W33C NM_001031709 NP_001026879 Q5VYX0 RNLS_HUMAN renalase isoform 1 33 extracellular region oxidoreductase activity ovary(1) 1 CAGCCTTGTCCCACACAGCAA 0.622 OREG0020353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) IFIT2 3433 broad.mit.edu 37 10 91066050 91066050 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:91066050G>A uc009xts.2 + 2 512 c.337G>A c.(337-339)GTT>ATT p.V113I LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron NM_001547 NP_001538 P09913 IFIT2_HUMAN interferon-induced protein with 113 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) ACTCTCAGACGTTCAGATTTA 0.483 BTAF1 9044 broad.mit.edu 37 10 93768864 93768864 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:93768864G>A uc001khr.2 + 28 4100 c.4002G>A c.(4000-4002)CCG>CCA p.P1334P NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1334 Helicase ATP-binding. 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) TGGTTTGTCCGCCAACATTAA 0.408 KIF11 3832 broad.mit.edu 37 10 94409745 94409745 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:94409745T>C uc001kic.2 + 20 3230 c.2922_splice c.e20+2 p.P974_splice KIF11_uc010qnq.1_Splice_Site NM_004523 NP_004514 P52732 KIF11_HUMAN kinesin family member 11 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding skin(1) 1 ACAATTCCGGTAAATTTAAAG 0.363 PLCE1 51196 broad.mit.edu 37 10 96005895 96005895 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:96005895C>T uc001kjk.2 + 8 3247 c.2613C>T c.(2611-2613)GAC>GAT p.D871D PLCE1_uc010qnx.1_Silent_p.D871D|PLCE1_uc001kjm.2_Silent_p.D563D NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 871 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) TCCACTACGACCAGGACACAC 0.607 PLCE1 51196 broad.mit.edu 37 10 96076482 96076482 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:96076482T>C uc001kjk.2 + 29 6945 c.6311T>C c.(6310-6312)ATG>ACG p.M2104T PLCE1_uc010qnx.1_Missense_Mutation_p.M2088T|PLCE1_uc001kjm.2_Missense_Mutation_p.M1796T|PLCE1_uc001kjp.2_Missense_Mutation_p.M462T NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 2104 Ras-associating 1. 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) GAGGGATACATGGGCAGGATT 0.438 NOC3L 64318 broad.mit.edu 37 10 96117058 96117058 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:96117058A>G uc001kjq.1 - 4 469 c.381T>C c.(379-381)CAT>CAC p.H127H NOC3L_uc009xuk.1_5'UTR NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog 127 nuclear speck|nucleolus binding ovary(1) 1 Colorectal(252;0.0897) TAATGCGTTCATGCTTCCGTT 0.348 HELLS 3070 broad.mit.edu 37 10 96352252 96352252 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:96352252A>G uc001kjt.2 + 17 2057 c.1952A>G c.(1951-1953)TAC>TGC p.Y651C HELLS_uc001kjs.2_Missense_Mutation_p.Y635C|HELLS_uc009xul.2_Missense_Mutation_p.Y553C|HELLS_uc009xum.2_Missense_Mutation_p.Y521C|HELLS_uc009xun.2_Missense_Mutation_p.Y527C|HELLS_uc009xuo.2_Missense_Mutation_p.Y697C|HELLS_uc001kju.2_Missense_Mutation_p.Y290C|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.Y513C|HELLS_uc009xur.2_RNA NM_018063 NP_060533 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 651 Helicase C-terminal. cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity ovary(1)|kidney(1) 2 Colorectal(252;0.0429) all cancers(201;2.13e-05) TCCATGTCTTACTCAGAGAGA 0.353 LCOR 84458 broad.mit.edu 37 10 98715288 98715288 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:98715288T>C uc001kms.1 + 8 1432 c.911T>C c.(910-912)ATG>ACG p.M304T LCOR_uc001kmr.2_Missense_Mutation_p.M304T|C10orf12_uc009xvg.1_Intron|LCOR_uc001kmt.1_Missense_Mutation_p.M304T|LCOR_uc001kmu.1_Missense_Mutation_p.M304T NM_032440 NP_115816 Q96JN0 LCOR_HUMAN ligand dependent nuclear receptor corepressor 304 nucleus DNA binding ovary(3) 3 Colorectal(252;0.162) Epithelial(162;4.43e-09)|all cancers(201;2.96e-07) AGAAAAAGCATGTTAGATGCT 0.468 SLIT1 6585 broad.mit.edu 37 10 98763959 98763959 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:98763959C>A uc001kmw.2 - 34 3983 c.3731G>T c.(3730-3732)GGG>GTG p.G1244V NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 1244 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) GTGGAATTGCCCATCGTTGAT 0.557 CPN1 1369 broad.mit.edu 37 10 101841263 101841263 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:101841263G>A uc001kql.2 - 1 380 c.120C>T c.(118-120)AAC>AAT p.N40N NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 40 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) CGGGGCATTCGTTTTGCACCT 0.592 SEC31B 25956 broad.mit.edu 37 10 102255254 102255254 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:102255254G>A uc001krc.1 - 19 2462 c.2360C>T c.(2359-2361)GCT>GTT p.A787V SEC31B_uc010qpo.1_Missense_Mutation_p.A786V|SEC31B_uc001krd.1_Missense_Mutation_p.A324V|SEC31B_uc001krf.1_Missense_Mutation_p.A324V|SEC31B_uc001kre.1_Missense_Mutation_p.A324V|SEC31B_uc001krg.1_Missense_Mutation_p.A356V NM_015490 NP_056305 Q9NQW1 SC31B_HUMAN SEC31 homolog B 787 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane ovary(1) 1 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) GCCCAAGACAGCAGAACCTTG 0.473 LZTS2 84445 broad.mit.edu 37 10 102763509 102763509 + Silent SNP C C T rs78785945 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:102763509C>T uc001ksj.2 + 3 723 c.654C>T c.(652-654)TCC>TCT p.S218S LZTS2_uc010qpw.1_Silent_p.S218S|LZTS2_uc001ksk.2_Silent_p.S218S|LZTS2_uc001ksl.2_Silent_p.S218S|LZTS2_uc001ksm.2_RNA NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 218 Ser-rich.|Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center ovary(2)|large_intestine(1)|breast(1) 4 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GGACGCTATCCGACTCTGGCC 0.552 FBXW4 6468 broad.mit.edu 37 10 103371071 103371071 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:103371071C>T uc001kto.2 - 9 1562 c.1216G>A c.(1216-1218)GTC>ATC p.V406I NM_022039 NP_071322 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 406 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex skin(1) 1 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) AAATCCAGGACGTGGAGGTTG 0.597 SH3PXD2A 9644 broad.mit.edu 37 10 105362558 105362558 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:105362558G>A uc001kxj.1 - 14 2473 c.2333C>T c.(2332-2334)ACG>ATG p.T778M SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.T613M|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.T655M|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.T613M|SH3PXD2A_uc010qqu.1_Missense_Mutation_p.T721M NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 806 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) CTCGGAGGCCGTCTGCGGGGG 0.627 COL17A1 1308 broad.mit.edu 37 10 105799276 105799276 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:105799276C>A uc001kxr.2 - 43 2992 c.2823G>T c.(2821-2823)GGG>GGT p.G941G NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 941 Extracellular (Potential).|Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AAGAACTGGACCCTGGAAGCC 0.602 SORCS1 114815 broad.mit.edu 37 10 108923764 108923764 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:108923764T>C uc001kym.2 - 1 529 c.521A>G c.(520-522)AAC>AGC p.N174S SORCS1_uc001kyl.2_Missense_Mutation_p.N174S|SORCS1_uc009xxs.2_Missense_Mutation_p.N174S|SORCS1_uc001kyn.1_Missense_Mutation_p.N174S|SORCS1_uc001kyo.2_Missense_Mutation_p.N174S NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 174 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) CATGGCTTGGTTGTGTGCTGA 0.592 MXI1 4601 broad.mit.edu 37 10 111987987 111987987 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:111987987G>A uc001kza.2 + 2 321 c.114G>A c.(112-114)CCG>CCA p.P38P MXI1_uc001kyy.2_Silent_p.P105P|MXI1_uc001kyz.2_Silent_p.P2P|MXI1_uc010qrc.1_Silent_p.P38P|MXI1_uc009xxu.2_Silent_p.P35P|MXI1_uc009xxv.2_RNA NM_005962 NP_005953 P50539 MXI1_HUMAN MAX interactor 1 isoform a 38 cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity 0 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127) CGTCCATGCCGAGCCCCCGAC 0.527 TECTB 6975 broad.mit.edu 37 10 114045827 114045827 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:114045827A>G uc001kzr.1 + 3 268 c.268_splice c.e3-2 p.Y90_splice NM_058222 NP_478129 Q96PL2 TECTB_HUMAN tectorin beta precursor anchored to membrane|plasma membrane|proteinaceous extracellular matrix 0 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) TTCTTTGTCCAGTACAAGCCA 0.463 NRAP 4892 broad.mit.edu 37 10 115365607 115365607 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:115365607G>A uc001laj.2 - 34 3993 c.3829C>T c.(3829-3831)CGT>TGT p.R1277C NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.R1242C|NRAP_uc001lal.3_Missense_Mutation_p.R1277C NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1277 Nebulin 33. 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) CGAAGATTACGCCAGGACTCT 0.448 NRAP 4892 broad.mit.edu 37 10 115365959 115365959 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:115365959G>A uc001laj.2 - 33 3949 c.3785C>T c.(3784-3786)ACG>ATG p.T1262M NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Missense_Mutation_p.T1227M|NRAP_uc001lal.3_Missense_Mutation_p.T1262M NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1262 Nebulin 33. 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) GGCTGCATTCGTTTTTGCTCG 0.458 NHLRC2 374354 broad.mit.edu 37 10 115661633 115661633 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:115661633G>A uc001lax.1 + 7 1560 c.1348G>A c.(1348-1350)GTA>ATA p.V450I NHLRC2_uc001lay.1_RNA NM_198514 NP_940916 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 450 cell redox homeostasis ovary(1) 1 Epithelial(162;0.017)|all cancers(201;0.0187) GAAGCACCTCGTAGGAGGAGA 0.473 ABLIM1 3983 broad.mit.edu 37 10 116198969 116198969 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:116198969C>T uc010qsg.1 - 20 2207 c.2108G>A c.(2107-2109)CGA>CAA p.R703Q ABLIM1_uc010qsh.1_Missense_Mutation_p.R671Q|ABLIM1_uc010qsi.1_Missense_Mutation_p.R643Q|ABLIM1_uc010qsf.1_Missense_Mutation_p.R380Q NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 703 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) AGACACTCCTCGGTCCATTCT 0.473 HSPA12A 259217 broad.mit.edu 37 10 118441370 118441370 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:118441370C>T uc001lct.2 - 8 959 c.854G>A c.(853-855)CGT>CAT p.R285H HSPA12A_uc001lcu.2_Missense_Mutation_p.R202H NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 285 ATP binding ovary(1) 1 all cancers(201;0.0158) CTGCCGATTACGCCGTATGTG 0.473 OREG0020558 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KCNK18 338567 broad.mit.edu 37 10 118960782 118960782 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:118960782G>A uc010qsr.1 + 2 336 c.336G>A c.(334-336)ACG>ACA p.T112T NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 112 integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) TCTGCTGCACGGTGTTCAGCA 0.562 PDZD8 118987 broad.mit.edu 37 10 119043937 119043937 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:119043937G>A uc001lde.1 - 5 2506 c.2307C>T c.(2305-2307)ACC>ACT p.T769T NM_173791 NP_776152 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 769 intracellular signal transduction metal ion binding 0 Colorectal(252;0.19) all cancers(201;0.0121) TGCGTAGTGCGGTTCTAGTGA 0.408 BAG3 9531 broad.mit.edu 37 10 121429488 121429488 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:121429488C>T uc001lem.2 + 2 612 c.306C>T c.(304-306)GGC>GGT p.G102G BAG3_uc001lel.2_Silent_p.G102G NM_004281 NP_004272 O95817 BAG3_HUMAN BCL2-associated athanogene 3 102 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) TCCATGAAGGCGCTGAGAACC 0.637 SEC23IP 11196 broad.mit.edu 37 10 121663641 121663641 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:121663641G>A uc001leu.1 + 4 1025 c.953G>A c.(952-954)CGC>CAC p.R318H SEC23IP_uc010qtc.1_Missense_Mutation_p.R107H NM_007190 NP_009121 Q9Y6Y8 S23IP_HUMAN Sec23-interacting protein p125 318 Interaction with SEC23A. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding ovary(3) 3 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) GATGGAGGGCGCTACGATGTT 0.483 FGFR2 2263 broad.mit.edu 37 10 123274774 123274774 + Missense_Mutation SNP A A G rs121913474 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:123274774A>G uc010qtk.1 - 9 1791 c.1144T>C c.(1144-1146)TGC>CGC p.C382R FGFR2_uc010qtg.1_Missense_Mutation_p.C270R|FGFR2_uc010qth.1_Missense_Mutation_p.C267R|FGFR2_uc010qti.1_Missense_Mutation_p.C293R|FGFR2_uc010qtj.1_Missense_Mutation_p.C383R|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.C267R|FGFR2_uc001lfl.3_Missense_Mutation_p.C383R|FGFR2_uc001lfm.2_Missense_Mutation_p.C294R|FGFR2_uc001lfn.3_RNA|FGFR2_uc001lfg.3_5'UTR NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 382 Helical; (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 p.C382R(2) 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) ACCCCTATGCAGTAAATGGCT 0.512 C382R(JHUEM2_ENDOMETRIUM) 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome TACC2 10579 broad.mit.edu 37 10 123970676 123970676 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:123970676A>G uc001lfv.2 + 9 7096 c.6736A>G c.(6736-6738)ACC>GCC p.T2246A TACC2_uc001lfw.2_Missense_Mutation_p.T392A|TACC2_uc009xzx.2_Missense_Mutation_p.T2201A|TACC2_uc010qtv.1_Missense_Mutation_p.T2250A|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Missense_Mutation_p.T324A|TACC2_uc001lga.2_Missense_Mutation_p.T324A|TACC2_uc009xzy.2_Missense_Mutation_p.T324A|TACC2_uc001lgb.2_Missense_Mutation_p.T281A|TACC2_uc010qtw.1_Missense_Mutation_p.T341A NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2246 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) AGGGGAGGTAACCCCATCGGA 0.607 DMBT1 1755 broad.mit.edu 37 10 124358347 124358347 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:124358347G>A uc001lgk.1 + 26 3120 c.3014G>A c.(3013-3015)CGA>CAA p.R1005Q DMBT1_uc001lgl.1_Missense_Mutation_p.R995Q|DMBT1_uc001lgm.1_Missense_Mutation_p.R506Q|DMBT1_uc009xzz.1_Missense_Mutation_p.R1005Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 1005 SRCR 8. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGTCAGGGCCGAGTGGAGGTC 0.567 FAM53B 9679 broad.mit.edu 37 10 126370548 126370548 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:126370548G>T uc001lhv.1 - 4 1057 c.534C>A c.(532-534)TCC>TCA p.S178S FAM53B_uc001lhu.1_Silent_p.S178S|FAM53B_uc001lhw.2_Silent_p.S178S NM_014661 NP_055476 Q14153 FA53B_HUMAN hypothetical protein LOC9679 178 ovary(1)|pancreas(1) 2 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) CGCAGGGTGAGGAGAGCACGT 0.657 FAM53B 9679 broad.mit.edu 37 10 126370610 126370610 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:126370610C>T uc001lhv.1 - 4 995 c.472G>A c.(472-474)GGC>AGC p.G158S FAM53B_uc001lhu.1_Missense_Mutation_p.G158S|FAM53B_uc001lhw.2_Missense_Mutation_p.G158S NM_014661 NP_055476 Q14153 FA53B_HUMAN hypothetical protein LOC9679 158 ovary(1)|pancreas(1) 2 all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15) GTGCTGAAGCCGTTGGAATAG 0.622 PWWP2B 170394 broad.mit.edu 37 10 134219688 134219688 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:134219688A>G uc001lll.3 + 2 1713 c.1684A>G c.(1684-1686)ATG>GTG p.M562V PWWP2B_uc009ybe.2_Intron NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2 isoform 1 562 0 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) GAAGAAGGGGATGTATCGGAA 0.463 KNDC1 85442 broad.mit.edu 37 10 135015094 135015094 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:135015094C>T uc001llz.1 + 17 3080 c.3079C>T c.(3079-3081)CGG>TGG p.R1027W KNDC1_uc001lma.1_Missense_Mutation_p.R962W|KNDC1_uc001lmb.1_Missense_Mutation_p.R439W NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1027 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) CGCACTGTCACGGGGAAACTT 0.637 SCGB1C1 147199 broad.mit.edu 37 11 193728 193728 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:193728G>T uc001loa.1 + 2 92 c.72G>T c.(70-72)GAG>GAT p.E24D NM_145651 NP_663626 Q8TD33 SG1C1_HUMAN secretoglobin, family 1C, member 1 precursor 24 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) CCACAGGGGAGGACAACGATG 0.577 LSP1 4046 broad.mit.edu 37 11 1908789 1908789 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:1908789C>A uc001lui.2 + 10 1191 c.1016C>A c.(1015-1017)CCC>CAC p.P339H LSP1_uc001luj.2_Missense_Mutation_p.P467H|LSP1_uc001luk.2_Missense_Mutation_p.P277H|LSP1_uc001lul.2_Missense_Mutation_p.P277H|LSP1_uc001lum.2_Missense_Mutation_p.P277H NM_002339 NP_002330 P33241 LSP1_HUMAN lymphocyte-specific protein 1 isoform 1 339 cellular component movement|cellular defense response actin cytoskeleton|Golgi apparatus|plasma membrane actin binding|signal transducer activity large_intestine(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856) GGCCCGGCTCCCTAGGCGTCC 0.597 PGAP2 27315 broad.mit.edu 37 11 3846332 3846332 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:3846332G>A uc001lys.2 + 6 917 c.791G>A c.(790-792)CGG>CAG p.R264Q PGAP2_uc001lyl.2_Missense_Mutation_p.R221Q|PGAP2_uc010qxw.1_Missense_Mutation_p.R321Q|PGAP2_uc010qxx.1_Silent_p.S244S|PGAP2_uc001lyp.3_Silent_p.S130S|PGAP2_uc010qxy.1_Missense_Mutation_p.R256Q|PGAP2_uc010qxz.1_Missense_Mutation_p.R260Q|PGAP2_uc001lyn.3_Silent_p.S156S|PGAP2_uc010qya.1_RNA|PGAP2_uc001lyr.2_Silent_p.S227S|PGAP2_uc010qyb.1_Silent_p.S206S|PGAP2_uc001lyt.2_Missense_Mutation_p.R47Q NM_014489 NP_055304 Q9UHJ9 PGAP2_HUMAN FGF receptor activating protein 1 isoform 1 264 Helical; (Potential). GPI anchor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein transporter activity 0 GTCTACTTTCGGCACAACATG 0.527 OREG0020703 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR52N4 390072 broad.mit.edu 37 11 5776934 5776934 + Nonstop_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:5776934T>C uc001mbu.2 + 1 1012 c.964T>C c.(964-966)TGA>CGA p.*322R TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 322 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) CTACAGCATGTGAATGAACAC 0.398 RRP8 23378 broad.mit.edu 37 11 6622242 6622242 + Missense_Mutation SNP G G A rs139950161 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:6622242G>A uc001med.2 - 4 1040 c.961C>T c.(961-963)CGC>TGC p.R321C ILK_uc001mee.2_5'Flank|ILK_uc001mef.2_5'Flank|ILK_uc010rap.1_5'Flank|ILK_uc010raq.1_5'Flank|ILK_uc001meg.2_5'Flank|ILK_uc001meh.2_5'Flank NM_015324 NP_056139 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, 321 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity 0 GAAGCCAAGCGGCAATCCCCA 0.547 DCHS1 8642 broad.mit.edu 37 11 6643309 6643309 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:6643309C>T uc001mem.1 - 21 10008 c.9598G>A c.(9598-9600)GAC>AAC p.D3200N TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 3200 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTGGTGGGTCGATACGGGGA 0.642 MRVI1 10335 broad.mit.edu 37 11 10626010 10626010 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:10626010C>T uc010rcc.1 - 13 2071 c.1685G>A c.(1684-1686)CGC>CAC p.R562H MRVI1_uc001miw.2_Missense_Mutation_p.R553H|MRVI1_uc010rcb.1_Missense_Mutation_p.R554H|MRVI1_uc009ygb.1_Missense_Mutation_p.R247H|MRVI1_uc001mix.2_Missense_Mutation_p.R247H|MRVI1_uc001miz.2_Missense_Mutation_p.R471H|MRVI1_uc009ygc.1_Missense_Mutation_p.R471H|MRVI1_uc010rcd.1_Missense_Mutation_p.R356H|MRVI1_uc009ygd.1_Missense_Mutation_p.R247H|MRVI1_uc010rce.1_RNA NM_001100167 NP_001093637 Q9Y6F6 MRVI1_HUMAN JAW1-related protein isoform c 535 Potential.|Interaction with ITPR1 (By similarity). platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum ovary(2)|central_nervous_system(1) 3 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TGTCAGGTTGCGTTCCCTTTC 0.468 GALNTL4 374378 broad.mit.edu 37 11 11454305 11454305 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:11454305A>G uc001mjo.2 - 3 879 c.458T>C c.(457-459)CTG>CCG p.L153P NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 153 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all cancers(16;3.67e-05)|Epithelial(150;0.000184) CACCTCTGGCAGGCTGTCAGG 0.562 USP47 55031 broad.mit.edu 37 11 11954637 11954637 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:11954637C>T uc001mjq.1 + 16 2561 c.1798C>T c.(1798-1800)CGA>TGA p.R600* USP47_uc001mjr.2_Nonsense_Mutation_p.R512*|USP47_uc001mjs.2_Nonsense_Mutation_p.R580* NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 600 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) AAAGAGACAACGAGAAATTGA 0.323 USP47 55031 broad.mit.edu 37 11 11974317 11974317 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:11974317C>T uc001mjs.2 + 25 4376 c.3613C>T c.(3613-3615)CTT>TTT p.L1205F USP47_uc001mjr.2_Missense_Mutation_p.L1137F|USP47_uc009ygi.2_Missense_Mutation_p.L7F NM_017944 NP_060414 Q96K76 UBP47_HUMAN ubiquitin specific protease 47 1225 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) CATGTCACAGCTTGCAGTTTT 0.428 COPB1 1315 broad.mit.edu 37 11 14515947 14515947 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:14515947T>C uc001mli.2 - 3 437 c.130A>G c.(130-132)AAA>GAA p.K44E COPB1_uc001mlg.2_Missense_Mutation_p.K44E|COPB1_uc001mlh.2_Missense_Mutation_p.K44E|PSMA1_uc010rcp.1_RNA NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 44 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 ATGATTACTTTCTTCAAAGCT 0.299 INSC 387755 broad.mit.edu 37 11 15262062 15262062 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:15262062C>T uc001mly.2 + 12 1650 c.1604C>T c.(1603-1605)GCC>GTC p.A535V INSC_uc001mlz.2_Missense_Mutation_p.A488V|INSC_uc001mma.2_Missense_Mutation_p.A488V|INSC_uc010rcs.1_Missense_Mutation_p.A523V|INSC_uc001mmb.2_Missense_Mutation_p.A488V|INSC_uc001mmc.2_Missense_Mutation_p.A446V NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 535 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 GTGCTTGTGGCCTGCCTGGTG 0.562 SPTY2D1 144108 broad.mit.edu 37 11 18636709 18636709 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:18636709G>A uc001moy.2 - 3 1328 c.1112C>T c.(1111-1113)CCA>CTA p.P371L SPTY2D1_uc010rdi.1_Missense_Mutation_p.P371L NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 371 Ser-rich. breast(1) 1 GCTGCTGCCTGGCTGCCTGAC 0.602 IGSF22 283284 broad.mit.edu 37 11 18729360 18729360 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:18729360G>A uc009yht.2 - 20 3461 c.3271C>T c.(3271-3273)CGC>TGC p.R1091C IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ovary(4)|large_intestine(2)|kidney(1) 7 CCTGCCACGCGCACATGGATG 0.542 ANO5 203859 broad.mit.edu 37 11 22281077 22281077 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:22281077G>A uc001mqi.2 + 15 1737 c.1420G>A c.(1420-1422)GTC>ATC p.V474I ANO5_uc001mqj.2_Missense_Mutation_p.V473I NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 474 Helical; (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 GTCTCTTGTCGTCACCAGTAT 0.378 LGR4 55366 broad.mit.edu 37 11 27390168 27390168 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:27390168G>A uc001mrj.3 - 18 2587 c.2102C>T c.(2101-2103)ACG>ATG p.T701M LGR4_uc001mrk.3_Missense_Mutation_p.T677M NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN leucine-rich repeat-containing G protein-coupled 701 Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity ovary(1) 1 TAATGATGGCGTTTCACCTGT 0.403 QSER1 79832 broad.mit.edu 37 11 32955335 32955335 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:32955335G>A uc001mty.2 + 4 2411 c.2144G>A c.(2143-2145)GGC>GAC p.G715D QSER1_uc001mtz.1_Missense_Mutation_p.G476D|QSER1_uc001mua.2_Missense_Mutation_p.G220D NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 715 Gln-rich. ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) TTAGGGCATGGCCATCAGGCA 0.413 HIPK3 10114 broad.mit.edu 37 11 33308762 33308762 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:33308762C>T uc001mul.1 + 2 1072 c.802C>T c.(802-804)CGT>TGT p.R268C HIPK3_uc001mum.1_Missense_Mutation_p.R268C|HIPK3_uc009yjv.1_Missense_Mutation_p.R268C NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 268 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 CTTTCAGCACCGTAACCATAC 0.388 C11orf41 25758 broad.mit.edu 37 11 33667450 33667450 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:33667450C>T uc001mup.3 + 16 4879 c.4755C>T c.(4753-4755)TAC>TAT p.Y1585Y NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1579 integral to membrane ovary(2) 2 AAGAGGCCTACGGCTCAGCCC 0.701 C11orf41 25758 broad.mit.edu 37 11 33689437 33689437 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:33689437A>G uc001mup.3 + 20 5429 c.5305A>G c.(5305-5307)ATC>GTC p.I1769V NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 1763 integral to membrane ovary(2) 2 CCCAGGGTACATCGAGGCCTA 0.642 ACCSL 390110 broad.mit.edu 37 11 44077743 44077743 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:44077743C>T uc001mxw.1 + 11 1250 c.1194C>T c.(1192-1194)GGC>GGT p.G398G ACCSL_uc009ykr.2_Silent_p.G217G NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 398 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 AGGATTTTGGCATCTCTGGCT 0.507 MAPK8IP1 9479 broad.mit.edu 37 11 45924210 45924210 + Missense_Mutation SNP G G A rs141639373 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:45924210G>A uc001nbr.2 + 5 1062 c.892G>A c.(892-894)GCC>ACC p.A298T NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 298 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) GCCCACCTCCGCCTTCCTGCC 0.662 PHF21A 51317 broad.mit.edu 37 11 45955682 45955682 + Missense_Mutation SNP C C T rs140543084 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:45955682C>T uc001ncc.3 - 18 2504 c.1880G>A c.(1879-1881)GGC>GAC p.G627D PHF21A_uc001ncb.3_Missense_Mutation_p.G581D|PHF21A_uc009ykx.2_Missense_Mutation_p.G581D|PHF21A_uc001nca.1_3'UTR NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN BRAF35/HDAC2 complex isoform a 627 Required for transcriptional repression. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 GAGGTCGATGCCGTGGATGAG 0.597 NUP160 23279 broad.mit.edu 37 11 47828676 47828676 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:47828676G>A uc001ngm.2 - 19 2477 c.2392C>T c.(2392-2394)CAC>TAC p.H798Y NUP160_uc009ylw.2_RNA NM_015231 NP_056046 Q12769 NU160_HUMAN nucleoporin 160kDa 798 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding ovary(4)|lung(1)|central_nervous_system(1)|skin(1) 7 ACTGATAAGTGTTGGAGATTA 0.378 OR4A16 81327 broad.mit.edu 37 11 55111357 55111357 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:55111357T>C uc010rie.1 + 1 681 c.681T>C c.(679-681)AGT>AGC p.S227S NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 AAACTTACAGTCAGGAAGAGA 0.428 OR8H1 219469 broad.mit.edu 37 11 56057709 56057709 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:56057709T>C uc010rje.1 - 1 830 c.830A>G c.(829-831)TAT>TGT p.Y277C NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) CACAATAGTATAAAAAACAGA 0.353 OR5AR1 219493 broad.mit.edu 37 11 56431837 56431837 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:56431837A>G uc010rjm.1 + 1 676 c.676A>G c.(676-678)ATC>GTC p.I226V NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 226 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGTTGCAATCATCAGAATGCG 0.463 MS4A15 219995 broad.mit.edu 37 11 60531390 60531390 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:60531390C>T uc009ynf.1 + 2 404 c.184C>T c.(184-186)CCC>TCC p.P62S MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_RNA|MS4A15_uc009yng.1_Missense_Mutation_p.P62S NM_001098835 NP_001092305 Q8N5U1 M4A15_HUMAN membrane-spanning 4-domains, subfamily A, member 62 integral to membrane receptor activity lung(1) 1 TGACTTGCGGCCCGTGGAGAC 0.582 C11orf66 220004 broad.mit.edu 37 11 61254061 61254061 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:61254061T>C uc001nru.1 + 9 938 c.813T>C c.(811-813)AAT>AAC p.N271N C11orf66_uc009ynq.1_Silent_p.N251N NM_145017 NP_659454 Q7Z5V6 CK066_HUMAN IIIG9 protein 271 ovary(1) 1 GCCGAGGGAATGAAAGGATTC 0.572 AHNAK 79026 broad.mit.edu 37 11 62289451 62289451 + Silent SNP G G A rs150249054 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:62289451G>A uc001ntl.2 - 5 12738 c.12438C>T c.(12436-12438)GAC>GAT p.D4146D AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4146 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AAACGTCCACGTCGCCCTTCA 0.522 SLC22A8 9376 broad.mit.edu 37 11 62760801 62760801 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:62760801G>A uc001nwo.2 - 11 1673 c.1537C>T c.(1537-1539)CGG>TGG p.R513W SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_3'UTR|SLC22A8_uc009yom.2_Missense_Mutation_p.R390W|SLC22A8_uc010rmm.1_Missense_Mutation_p.R422W|SLC22A8_uc009yon.2_Missense_Mutation_p.R513W NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 513 Extracellular (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 TTCTTTGCCCGCAGGGACCTA 0.617 PLCB3 5331 broad.mit.edu 37 11 64030156 64030156 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:64030156G>A uc001nzb.2 + 19 2231 c.2231G>A c.(2230-2232)GGC>GAC p.G744D PLCB3_uc009ypg.1_Missense_Mutation_p.G744D|PLCB3_uc009yph.1_Missense_Mutation_p.G677D|PLCB3_uc009ypi.2_Missense_Mutation_p.G744D NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 744 C2. 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 AGGAAGGTGGGCATCTACGTG 0.642 NRXN2 9379 broad.mit.edu 37 11 64427988 64427988 + Silent SNP G G A rs142462404 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:64427988G>A uc001oar.2 - 12 2644 c.2205C>T c.(2203-2205)TAC>TAT p.Y735Y NRXN2_uc001oas.2_Silent_p.Y704Y|NRXN2_uc001oaq.2_Silent_p.Y402Y NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 TGGAGCCATCGTAGCTCAGGA 0.577 TM7SF2 7108 broad.mit.edu 37 11 64883043 64883043 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:64883043A>G uc001oct.2 + 9 1216 c.1069A>G c.(1069-1071)ATG>GTG p.M357V TM7SF2_uc010rny.1_Missense_Mutation_p.M241V|TM7SF2_uc001ocu.2_Missense_Mutation_p.M330V|TM7SF2_uc001ocv.2_Missense_Mutation_p.M378V|uc009yqb.1_5'Flank NM_003273 NP_003264 O76062 ERG24_HUMAN transmembrane 7 superfamily member 2 357 Helical; (Potential). cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity ovary(1) 1 AGACCTCATCATGGCTCTGGC 0.597 MRPL49 740 broad.mit.edu 37 11 64893233 64893233 + Silent SNP G G A rs112102999 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:64893233G>A uc001oda.1 + 4 481 c.390G>A c.(388-390)CCG>CCA p.P130P MRPL49_uc001ocz.1_RNA NM_004927 NP_004918 Q13405 RM49_HUMAN mitochondrial ribosomal protein L49 130 translation mitochondrial ribosome protein binding|structural constituent of ribosome 0 TTCTGAGCCCGCTGCTGGGGA 0.532 CAPN1 823 broad.mit.edu 37 11 64977350 64977350 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:64977350G>A uc009yqd.1 + 18 1936 c.1825G>A c.(1825-1827)GAG>AAG p.E609K CAPN1_uc001odf.1_Missense_Mutation_p.E609K|CAPN1_uc001odg.1_Missense_Mutation_p.E609K|CAPN1_uc010roa.1_Missense_Mutation_p.E350K NM_005186 NP_005177 P07384 CAN1_HUMAN calpain 1, large subunit 609 1.|Domain IV.|EF-hand 2. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding ovary(1) 1 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) GGGCCTGGTGGAGTTCAACAT 0.587 SLC22A20 440044 broad.mit.edu 37 11 65000814 65000814 + Missense_Mutation SNP G G A rs114214656 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65000814G>A uc010roc.1 + 8 1240 c.1237G>A c.(1237-1239)GCC>ACC p.A413T NM_001004326 NP_001004326 A6NK97 S22AK_HUMAN solute carrier family 22, member 20 413 Helical; (Potential). ion transport integral to membrane transmembrane transporter activity central_nervous_system(1) 1 CATGGTGATCGCCAACATGTT 0.597 CDC42EP2 10435 broad.mit.edu 37 11 65088674 65088674 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65088674C>A uc001odl.2 + 2 755 c.305C>A c.(304-306)CCT>CAT p.P102H NM_006779 NP_006770 O14613 BORG1_HUMAN Cdc42 effector protein 2 102 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity 0 GGCCCATCCCCTCTGCTCAAG 0.677 TIGD3 220359 broad.mit.edu 37 11 65124297 65124297 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65124297G>A uc001odo.3 + 2 1181 c.1018G>A c.(1018-1020)GCC>ACC p.A340T NM_145719 NP_663771 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 340 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CGTGCTGGACGCCCTGCACGT 0.652 SLC25A45 283130 broad.mit.edu 37 11 65147336 65147336 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65147336A>G uc001odp.1 - 3 575 c.153_splice c.e3+1 p.S51_splice SLC25A45_uc009yqi.1_Splice_Site_p.S51_splice|SLC25A45_uc001odq.1_Intron|SLC25A45_uc001odr.1_Splice_Site_p.S51_splice|SLC25A45_uc001ods.1_Splice_Site_p.S9_splice|SLC25A45_uc001odt.1_Splice_Site_p.S9_splice NM_001077241 NP_001070709 Q8N413 S2545_HUMAN solute carrier family 25, member 45 isoform b transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 TGGGCCACTCACGGACTCATG 0.612 SCYL1 57410 broad.mit.edu 37 11 65305557 65305557 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65305557C>T uc001oea.1 + 16 2228 c.2151C>T c.(2149-2151)GAC>GAT p.D717D SCYL1_uc009yqk.2_Silent_p.D717D|SCYL1_uc001oeb.1_Silent_p.D700D|SCYL1_uc001oec.1_Missense_Mutation_p.T705M|SCYL1_uc001oed.1_Silent_p.D574D|SCYL1_uc001oee.1_Silent_p.D361D NM_020680 NP_065731 Q96KG9 NTKL_HUMAN SCY1-like 1 isoform A 717 regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity skin(1) 1 CACCTCCTGACGGTACACGGC 0.642 LTBP3 4054 broad.mit.edu 37 11 65314941 65314941 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65314941C>T uc001oej.2 - 14 2345 c.2076G>A c.(2074-2076)CGG>CGA p.R692R LTBP3_uc001oef.2_5'Flank|LTBP3_uc001oeg.2_5'Flank|LTBP3_uc001oeh.2_Silent_p.R122R|LTBP3_uc010roi.1_Silent_p.R575R|LTBP3_uc001oei.2_Silent_p.R692R|LTBP3_uc010roj.1_Silent_p.R393R|LTBP3_uc010rok.1_Silent_p.R603R NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 692 EGF-like 5; calcium-binding (Potential).|Cys-rich. extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 AGGCTTTGAGCCGGTAGCCGG 0.627 EHBP1L1 254102 broad.mit.edu 37 11 65347566 65347566 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65347566G>A uc001oeo.3 + 5 592 c.327G>A c.(325-327)CAG>CAA p.Q109Q EHBP1L1_uc001oep.1_5'Flank NM_001099409 NP_001092879 Q8N3D4 EH1L1_HUMAN tangerin 109 central_nervous_system(1) 1 CTAAGGGGCAGCGGAAGGTGC 0.652 PCNXL3 399909 broad.mit.edu 37 11 65385650 65385650 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65385650C>T uc001oey.2 + 6 817 c.817C>T c.(817-819)CGC>TGC p.R273C NM_032223 NP_115599 Q9H6A9 PCX3_HUMAN pecanex-like 3 273 integral to membrane 0 ACGGGAACAACGCAGGGGGGC 0.677 EFEMP2 30008 broad.mit.edu 37 11 65638718 65638718 + Missense_Mutation SNP C C T rs2234462 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65638718C>T uc001ofy.3 - 4 471 c.277G>A c.(277-279)GGC>AGC p.G93S EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.G93S NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 93 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) GGTCCCTCGCCGTGTAGGTCG 0.652 CTSW 1521 broad.mit.edu 37 11 65650137 65650137 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65650137C>T uc001ogc.1 + 6 638 c.596C>T c.(595-597)GCG>GTG p.A199V CTSW_uc001ogb.1_Missense_Mutation_p.A199V NM_001335 NP_001326 P56202 CATW_HUMAN cathepsin W preproprotein 199 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.168) GTCTGGGACGCGTTCATAACT 0.627 CTSW 1521 broad.mit.edu 37 11 65650895 65650895 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65650895G>T uc001ogc.1 + 9 1062 c.1020G>T c.(1018-1020)AAG>AAT p.K340N CTSW_uc001ogb.1_Missense_Mutation_p.K340N NM_001335 NP_001326 P56202 CATW_HUMAN cathepsin W preproprotein 340 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1) 1 READ - Rectum adenocarcinoma(159;0.168) GGGGAGAGAAGGTGAGTGTGA 0.597 NPAS4 266743 broad.mit.edu 37 11 66190273 66190273 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:66190273G>A uc001ohx.1 + 4 735 c.559G>A c.(559-561)GTG>ATG p.V187M NPAS4_uc010rpc.1_Silent_p.P13P NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 187 transcription, DNA-dependent DNA binding|signal transducer activity 0 AGGAAATCCCGTGTTCACAGC 0.637 NPAS4 266743 broad.mit.edu 37 11 66190305 66190305 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:66190305G>A uc001ohx.1 + 4 767 c.591G>A c.(589-591)CCG>CCA p.P197P NPAS4_uc010rpc.1_Missense_Mutation_p.R24Q NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 197 transcription, DNA-dependent DNA binding|signal transducer activity 0 CTCTGGAGCCGAGACCCCGCC 0.612 RHOD 29984 broad.mit.edu 37 11 66834229 66834229 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:66834229C>A uc001ojv.2 + 3 326 c.241C>A c.(241-243)CTG>ATG p.L81M NM_014578 NP_055393 O00212 RHOD_HUMAN ras homolog D precursor 81 regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 CTATGACCGCCTGCGGCCCCT 0.597 CORO1B 57175 broad.mit.edu 37 11 67208687 67208687 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:67208687C>T uc001olj.1 - 5 701 c.665G>A c.(664-666)CGG>CAG p.R222Q CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.R222Q|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.R222Q|CORO1B_uc010rps.1_Missense_Mutation_p.R222Q NM_020441 NP_065174 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 222 WD 4. actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding large_intestine(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) CCGCATGGGCCGGGCCCCCTC 0.667 PITPNM1 9600 broad.mit.edu 37 11 67265420 67265420 + Missense_Mutation SNP C C T rs143299011 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:67265420C>T uc001olx.2 - 11 1939 c.1750G>A c.(1750-1752)GGG>AGG p.G584R PITPNM1_uc001olw.2_5'UTR|PITPNM1_uc001oly.2_Missense_Mutation_p.G584R|PITPNM1_uc001olz.2_Missense_Mutation_p.G584R NM_004910 NP_004901 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, 584 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity lung(2)|central_nervous_system(1) 3 CCCCGACTCCCGGTGCCCGCG 0.642 DHCR7 1717 broad.mit.edu 37 11 71146464 71146464 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:71146464T>C uc001oqk.2 - 9 1635 c.1385A>G c.(1384-1386)TAC>TGC p.Y462C DHCR7_uc001oql.2_Missense_Mutation_p.Y462C NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 462 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) TGCGGCGGTGTAGCGCTCCCA 0.642 Smith-Lemli-Opitz_syndrome FCHSD2 9873 broad.mit.edu 37 11 72695167 72695167 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:72695167C>T uc009ytl.2 - 8 892 c.671G>A c.(670-672)CGC>CAC p.R224H FCHSD2_uc010rrg.1_Missense_Mutation_p.R64H|FCHSD2_uc001oth.3_Missense_Mutation_p.R168H|FCHSD2_uc001oti.2_Missense_Mutation_p.R183H NM_014824 NP_055639 O94868 FCSD2_HUMAN FCH and double SH3 domains 2 224 protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) TTGATAGTAGCGATCCTGATG 0.368 MOGAT2 80168 broad.mit.edu 37 11 75439929 75439929 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:75439929C>T uc010rru.1 + 5 745 c.745C>T c.(745-747)CGG>TGG p.R249W MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Missense_Mutation_p.R167W NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 249 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) TATCCAGAATCGGTTGCAGAA 0.537 ODZ4 26011 broad.mit.edu 37 11 78516393 78516393 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:78516393G>A uc001ozl.3 - 15 2586 c.2123C>T c.(2122-2124)CCG>CTG p.P708L NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 708 Extracellular (Potential).|EGF-like 5. signal transduction integral to membrane ovary(2)|pancreas(2) 4 CCCGGTGTCCGGGAGGAAGGT 0.592 HEPHL1 341208 broad.mit.edu 37 11 93808353 93808353 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:93808353A>C uc001pep.2 + 9 1675 c.1518A>C c.(1516-1518)CCA>CCC p.P506P uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 506 Plastocyanin-like 3.|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) TTGTGAAACCAGGGGCGCATG 0.473 PIWIL4 143689 broad.mit.edu 37 11 94330984 94330984 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:94330984G>A uc001pfa.2 + 11 1494 c.1283G>A c.(1282-1284)CGC>CAC p.R428H PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 428 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ACCAATGCTCGCTTTGAACTA 0.378 CNTN5 53942 broad.mit.edu 37 11 100061980 100061980 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:100061980T>C uc001pga.2 + 14 2042 c.1703T>C c.(1702-1704)GTA>GCA p.V568A CNTN5_uc009ywv.1_Missense_Mutation_p.V568A|CNTN5_uc001pfz.2_Missense_Mutation_p.V568A|CNTN5_uc001pgb.2_Missense_Mutation_p.V494A|CNTN5_uc010ruk.1_5'UTR NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 568 cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TCGCTATCTGTAAAAGGTAAG 0.378 MMP3 4314 broad.mit.edu 37 11 102709964 102709964 + Missense_Mutation SNP G G A rs147533686 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:102709964G>A uc001phj.1 - 7 1011 c.946C>T c.(946-948)CGC>TGC p.R316C NM_002422 NP_002413 P08254 MMP3_HUMAN matrix metalloproteinase 3 preproprotein 316 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.R316C(1) lung(1)|kidney(1) 2 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) AGGGATTTGCGCCAAAAGTGC 0.403 EXPH5 23086 broad.mit.edu 37 11 108412488 108412488 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:108412488A>G uc001pkk.2 - 2 282 c.171T>C c.(169-171)GGT>GGC p.G57G EXPH5_uc010rwa.1_5'UTR NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 57 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CAAACCATTCACCAGTCACTC 0.328 SIK2 23235 broad.mit.edu 37 11 111594537 111594537 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:111594537A>C uc001plt.2 + 15 2583 c.2465A>C c.(2464-2466)CAG>CCG p.Q822P NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 822 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 CAGCAGCAGCAGccgccaccg 0.507 ZW10 9183 broad.mit.edu 37 11 113610032 113610032 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:113610032C>T uc001poe.2 - 12 1693 c.1656G>A c.(1654-1656)TTG>TTA p.L552L ZW10_uc009yyv.2_RNA NM_004724 NP_004715 O43264 ZW10_HUMAN centromere/kinetochore protein zw10 552 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) CGAGGGTCAGCAAGTGGTGAG 0.483 HTR3A 3359 broad.mit.edu 37 11 113857354 113857354 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:113857354G>T uc010rxb.1 + 7 1071 c.838G>T c.(838-840)GTC>TTC p.V280F HTR3A_uc010rxa.1_Missense_Mutation_p.V280F|HTR3A_uc009yyx.2_RNA|HTR3A_uc010rxc.1_Missense_Mutation_p.V259F NM_213621 NP_998786 P46098 5HT3A_HUMAN 5-hydroxytryptamine (serotonin) receptor 3A 274 Helical; Name=2; (Potential). 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) TGGCGAGAGGGTCTCTTTCAA 0.572 ZBTB16 7704 broad.mit.edu 37 11 114027109 114027109 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:114027109G>A uc001pop.2 + 3 1583 c.1319G>A c.(1318-1320)CGG>CAG p.R440Q ZBTB16_uc001poo.1_Missense_Mutation_p.R440Q|ZBTB16_uc001poq.2_Missense_Mutation_p.R440Q NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 440 C2H2-type 2. apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) TGCGGGAAGCGGTTCCTGGAT 0.547 CADM1 23705 broad.mit.edu 37 11 115080374 115080374 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:115080374G>T uc001ppi.3 - 8 1127 c.998C>A c.(997-999)CCC>CAC p.P333H CADM1_uc001ppf.3_Intron|CADM1_uc001ppk.3_Intron|CADM1_uc001ppj.3_Intron|CADM1_uc001pph.3_Missense_Mutation_p.P85H NM_014333 NP_055148 Q9BY67 CADM1_HUMAN immunoglobulin superfamily, member 4D isoform 1 333 Extracellular (Potential). PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). 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) AGTTGTGGGGGGATCTGGATA 0.284 SIDT2 51092 broad.mit.edu 37 11 117063319 117063319 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:117063319G>A uc001pqh.1 + 21 2052 c.2011G>A c.(2011-2013)GTG>ATG p.V671M SIDT2_uc010rxe.1_Missense_Mutation_p.V671M|SIDT2_uc001pqg.2_Missense_Mutation_p.V692M|SIDT2_uc001pqi.1_Missense_Mutation_p.V668M|SIDT2_uc001pqj.1_Translation_Start_Site NM_001040455 NP_001035545 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 precursor 671 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) CATCCTCCACGTGCTCTACAC 0.622 DSCAML1 57453 broad.mit.edu 37 11 117342716 117342716 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:117342716A>G uc001prh.1 - 15 3003 c.3001T>C c.(3001-3003)TCC>CCC p.S1001P NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 941 Extracellular (Potential).|Fibronectin type-III 1. 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) ATGGTGGGGGAGATGTTGCGT 0.537 DSCAML1 57453 broad.mit.edu 37 11 117389198 117389198 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:117389198G>A uc001prh.1 - 7 1675 c.1673C>T c.(1672-1674)GCG>GTG p.A558V DSCAML1_uc001pri.1_Missense_Mutation_p.A362V NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 498 Extracellular (Potential).|Ig-like C2-type 5. 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) GTTTATTCGCGCCTGATATTC 0.502 DSCAML1 57453 broad.mit.edu 37 11 117651377 117651377 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:117651377G>A uc001prh.1 - 2 377 c.375C>T c.(373-375)GAC>GAT p.D125D DSCAML1_uc001pri.1_Translation_Start_Site NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 65 Extracellular (Potential).|Ig-like C2-type 1. 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) CGTAGATGTCGTCCCCTGTGG 0.667 MLL 4297 broad.mit.edu 37 11 118371787 118371787 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:118371787G>A uc001pta.2 + 25 6258 c.6235G>A c.(6235-6237)GTA>ATA p.V2079I MLL_uc001ptb.2_Missense_Mutation_p.V2082I NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2079 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) TCCTCCAGTCGTAGAGCCGGA 0.468 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 PHLDB1 23187 broad.mit.edu 37 11 118498952 118498952 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:118498952G>A uc001ptr.1 + 7 1766 c.1413G>A c.(1411-1413)CCG>CCA p.P471P PHLDB1_uc001pts.2_Silent_p.P471P|PHLDB1_uc001ptt.2_Silent_p.P471P|PHLDB1_uc001ptu.1_Intron|PHLDB1_uc001ptv.1_Silent_p.P271P|PHLDB1_uc001ptw.1_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 471 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) CTCTCTCCCCGCTGCCCACCC 0.672 BCL9L 283149 broad.mit.edu 37 11 118770197 118770197 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:118770197T>C uc001pug.2 - 8 4392 c.3427A>G c.(3427-3429)AGC>GGC p.S1143G BCL9L_uc009zal.2_Missense_Mutation_p.S1138G NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 1143 Pro-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) TGCATCTGGCTGGGCTGGCTG 0.672 HYOU1 10525 broad.mit.edu 37 11 118919830 118919830 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:118919830T>G uc001puu.2 - 17 2085 c.1892A>C c.(1891-1893)GAG>GCG p.E631A HYOU1_uc001put.2_Missense_Mutation_p.E596A|HYOU1_uc010ryu.1_Intron|HYOU1_uc010ryv.1_Missense_Mutation_p.E520A|HYOU1_uc001pux.3_Missense_Mutation_p.E631A|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.E631A NM_006389 NP_006380 Q9Y4L1 HYOU1_HUMAN hypoxia up-regulated 1 precursor 631 endoplasmic reticulum lumen ATP binding|protein binding 0 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207) BRCA - Breast invasive adenocarcinoma(274;7.78e-05) AGAGCCATCCTCCACTGGGGC 0.602 C2CD2L 9854 broad.mit.edu 37 11 118982019 118982019 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:118982019T>C uc001pvo.2 + 6 1204 c.845T>C c.(844-846)ATC>ACC p.I282T DPAGT1_uc010ryz.1_5'Flank|C2CD2L_uc001pvn.2_Missense_Mutation_p.I282T NM_014807 NP_055622 O14523 C2C2L_HUMAN transmembrane protein 24 282 integral to membrane 0 CAGCCAGCCATCCCCAGACCT 0.562 PVRL1 5818 broad.mit.edu 37 11 119549183 119549183 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:119549183G>A uc001pwv.2 - 2 544 c.372C>T c.(370-372)TGC>TGT p.C124C PVRL1_uc001pwu.1_Silent_p.C124C|PVRL1_uc001pww.2_Silent_p.C124C NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 124 Extracellular (Potential).|Ig-like V-type. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) TAGCAAACTCGCAGATGTAGA 0.612 SORL1 6653 broad.mit.edu 37 11 121414327 121414327 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:121414327C>A uc001pxx.2 + 13 1836 c.1756C>A c.(1756-1758)CTC>ATC p.L586I NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 586 Extracellular (Potential). 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) TGTGTATGGCCTCCTCACAGA 0.493 SORL1 6653 broad.mit.edu 37 11 121448077 121448077 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:121448077G>A uc001pxx.2 + 25 3628 c.3548G>A c.(3547-3549)TGC>TAC p.C1183Y SORL1_uc010rzp.1_Missense_Mutation_p.C29Y NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1183 Extracellular (Potential).|LDL-receptor class A 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) GACAACGACTGCAGGGACTGG 0.527 BSX 390259 broad.mit.edu 37 11 122848370 122848370 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:122848370G>T uc010rzs.1 - 3 689 c.689C>A c.(688-690)CCG>CAG p.P230Q NM_001098169 NP_001091639 Q3C1V8 BSH_HUMAN brain specific homeobox 230 0 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361) GAGCACGTGCGGCCCTGAGCC 0.706 GRAMD1B 57476 broad.mit.edu 37 11 123481017 123481017 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:123481017C>A uc001pyx.2 + 13 1790 c.1461C>A c.(1459-1461)ACC>ACA p.T487T GRAMD1B_uc001pyw.2_Silent_p.T494T|GRAMD1B_uc010rzw.1_Silent_p.T447T|GRAMD1B_uc010rzx.1_Silent_p.T447T|GRAMD1B_uc001pyy.2_Silent_p.T178T NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 487 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) ACACGCTCACCCGTGTGGCTC 0.542 FAM118B 79607 broad.mit.edu 37 11 126124235 126124235 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:126124235C>T uc001qdf.2 + 6 786 c.603C>T c.(601-603)AGC>AGT p.S201S FAM118B_uc009zca.2_Silent_p.S205S|FAM118B_uc001qdg.2_Silent_p.S201S NM_024556 NP_078832 Q9BPY3 F118B_HUMAN hypothetical protein LOC79607 201 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) GTAAGCTGAGCGTGTTGCATA 0.522 TMEM45B 120224 broad.mit.edu 37 11 129725622 129725622 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:129725622C>T uc001qfe.1 + 4 466 c.405C>T c.(403-405)CAC>CAT p.H135H TMEM45B_uc001qff.1_Silent_p.H135H NM_138788 NP_620143 Q96B21 TM45B_HUMAN transmembrane protein 45B 135 Helical; (Potential). integral to membrane 0 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189) TCTACTACCACGTCCACAACC 0.557 ADAMTS8 11095 broad.mit.edu 37 11 130278728 130278728 + Missense_Mutation SNP G G A rs34821407 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:130278728G>A uc001qgg.3 - 7 2216 c.1858C>T c.(1858-1860)CGG>TGG p.R620W ADAMTS8_uc001qgf.2_Missense_Mutation_p.R101W NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 620 Cys-rich. 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) CAGCGGTCCCGGGGGGACACC 0.572 OPCML 4978 broad.mit.edu 37 11 132307169 132307169 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:132307169G>A uc001qgs.2 - 4 661 c.611C>T c.(610-612)GCG>GTG p.A204V OPCML_uc001qgu.2_Missense_Mutation_p.A197V|OPCML_uc010sck.1_Missense_Mutation_p.A204V|OPCML_uc001qgt.2_Missense_Mutation_p.A203V|OPCML_uc010scl.1_Missense_Mutation_p.A163V NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 204 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity p.A204A(1) ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) ATCGTTCAACGCGCTGCATTC 0.547 SLC6A13 6540 broad.mit.edu 37 12 332299 332299 + Silent SNP G G A rs146619869 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:332299G>A uc001qic.1 - 12 1466 c.1413C>T c.(1411-1413)TAC>TAT p.Y471Y SLC6A13_uc009zdj.1_Silent_p.Y461Y|SLC6A13_uc010sdl.1_Silent_p.Y379Y NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 471 Helical; Name=10; (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) GTCACTCACCGTAAACCCAAG 0.537 CACNA1C 775 broad.mit.edu 37 12 2705045 2705045 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:2705045G>A uc009zdu.1 + 20 2982 c.2669G>A c.(2668-2670)CGC>CAC p.R890H CACNA1C_uc009zdv.1_Missense_Mutation_p.R887H|CACNA1C_uc001qkb.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkc.2_Missense_Mutation_p.R890H|CACNA1C_uc001qke.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkf.2_Missense_Mutation_p.R890H|CACNA1C_uc001qjz.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkd.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkg.2_Missense_Mutation_p.R890H|CACNA1C_uc009zdw.1_Missense_Mutation_p.R890H|CACNA1C_uc001qkh.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkl.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkn.2_Missense_Mutation_p.R890H|CACNA1C_uc001qko.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkp.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkr.2_Missense_Mutation_p.R890H|CACNA1C_uc001qku.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkq.2_Missense_Mutation_p.R890H|CACNA1C_uc001qks.2_Missense_Mutation_p.R890H|CACNA1C_uc001qkt.2_Missense_Mutation_p.R890H|CACNA1C_uc001qka.1_Missense_Mutation_p.R425H|CACNA1C_uc001qki.1_Missense_Mutation_p.R626H|CACNA1C_uc001qkj.1_Missense_Mutation_p.R626H|CACNA1C_uc001qkk.1_Missense_Mutation_p.R626H|CACNA1C_uc001qkm.1_Missense_Mutation_p.R626H|CACNA1C_uc001qkw.2_Missense_Mutation_p.R179H NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 890 III.|Cytoplasmic (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) TACAGGTTTCGCCTCCAGTGC 0.582 CACNA1C 775 broad.mit.edu 37 12 2760892 2760892 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:2760892G>T uc009zdu.1 + 34 4489 c.4176G>T c.(4174-4176)GAG>GAT p.E1392D CACNA1C_uc009zdv.1_Missense_Mutation_p.E1341D|CACNA1C_uc001qkb.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkc.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qke.2_Missense_Mutation_p.E1333D|CACNA1C_uc001qkf.2_Missense_Mutation_p.E1333D|CACNA1C_uc001qjz.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkd.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkg.2_Missense_Mutation_p.E1331D|CACNA1C_uc009zdw.1_Missense_Mutation_p.E1366D|CACNA1C_uc001qkh.2_Missense_Mutation_p.E1333D|CACNA1C_uc001qkl.2_Missense_Mutation_p.E1392D|CACNA1C_uc001qkn.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qko.2_Missense_Mutation_p.E1364D|CACNA1C_uc001qkp.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkr.2_Missense_Mutation_p.E1361D|CACNA1C_uc001qku.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkq.2_Missense_Mutation_p.E1372D|CACNA1C_uc001qks.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qkt.2_Missense_Mutation_p.E1344D|CACNA1C_uc001qki.1_Missense_Mutation_p.E1080D|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1080D|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1080D|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1069D|CACNA1C_uc010sea.1_Missense_Mutation_p.E35D NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1392 IV.|Cytoplasmic (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) GCCGTGGGGAGGGCATCCGGA 0.647 C12orf5 57103 broad.mit.edu 37 12 4460458 4460458 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:4460458C>T uc001qmp.2 + 5 375 c.296C>T c.(295-297)GCG>GTG p.A99V NM_020375 NP_065108 Q9NQ88 TIGAR_HUMAN TP53-induced glycolysis and apoptosis regulator 99 intracellular fructose-2,6-bisphosphate 2-phosphatase activity skin(1) 1 all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206) GAAGGCAAAGCGCTAAGTGAG 0.473 FGF23 8074 broad.mit.edu 37 12 4479890 4479890 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:4479890G>A uc001qmq.1 - 3 521 c.375C>T c.(373-375)GAC>GAT p.D125D NM_020638 NP_065689 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 precursor 125 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity ovary(2)|breast(1)|skin(1) 4 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) AGTGGTAGACGTCGTACCCGT 0.587 KCNA1 3736 broad.mit.edu 37 12 5020658 5020658 + Silent SNP C C T rs146308797 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:5020658C>T uc001qnh.2 + 2 1219 c.114C>T c.(112-114)CGC>CGT p.R38R NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 38 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) GCTGCGAGCGCGTGGTGATCA 0.677 ANO2 57101 broad.mit.edu 37 12 5687530 5687530 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:5687530A>G uc001qnm.2 - 22 2458 c.2386_splice c.e22+1 p.G796_splice NM_020373 NP_065106 Q9NQ90 ANO2_HUMAN anoctamin 2 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity ovary(4)|large_intestine(2)|central_nervous_system(1) 7 TGGGGCACGTACCGATATCTT 0.547 VWF 7450 broad.mit.edu 37 12 6091088 6091088 + Missense_Mutation SNP C C T rs150201871 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:6091088C>T uc001qnn.1 - 42 7401 c.7151G>A c.(7150-7152)CGG>CAG p.R2384Q VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2384 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) CTGGGTCTTCCGAAGGGTGGG 0.587 LRRC23 10233 broad.mit.edu 37 12 7019089 7019089 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:7019089G>A uc001qrt.3 + 6 1049 c.657G>A c.(655-657)GAG>GAA p.E219E LRRC23_uc001qrp.2_Silent_p.E219E|LRRC23_uc001qrq.2_Silent_p.E219E|LRRC23_uc001qrr.2_Silent_p.E168E|LRRC23_uc001qrs.2_Silent_p.E168E|LRRC23_uc009zfh.2_Intron NM_001135217 NP_001128689 Q53EV4 LRC23_HUMAN leucine rich repeat containing 23 isoform a 219 LRR 6. ovary(1) 1 AAGGCTTGGAGGATCTGAGCA 0.502 GDF3 9573 broad.mit.edu 37 12 7842723 7842723 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:7842723G>A uc001qte.2 - 2 882 c.846C>T c.(844-846)ATC>ATT p.I282I NM_020634 NP_065685 Q9NR23 GDF3_HUMAN growth differentiation factor 3 precursor 282 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity skin(3)|ovary(1)|lung(1)|central_nervous_system(1) 6 TGGGGGCAATGATCCACTTGT 0.522 GPR19 2842 broad.mit.edu 37 12 12815320 12815320 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:12815320C>T uc001rar.3 - 2 256 c.63G>A c.(61-63)GTG>GTA p.V21V GPR19_uc001raq.2_Silent_p.V21V NM_006143 NP_006134 Q15760 GPR19_HUMAN G protein-coupled receptor 19 21 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(47;0.0802) BRCA - Breast invasive adenocarcinoma(232;0.048) TTTGGAGGGGCACCAGAAGTG 0.443 GUCY2C 2984 broad.mit.edu 37 12 14834327 14834327 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:14834327A>G uc001rcd.2 - 5 833 c.696T>C c.(694-696)TTT>TTC p.F232F GUCY2C_uc009zhz.2_Silent_p.F232F NM_004963 NP_004954 P25092 GUC2C_HUMAN guanylate cyclase 2C precursor 232 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity ovary(4)|skin(2) 6 AGATATCCTGAAACTCCTTAT 0.393 CAPZA3 93661 broad.mit.edu 37 12 18891439 18891439 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:18891439C>T uc001rdy.2 + 1 395 c.237C>T c.(235-237)GGC>GGT p.G79G PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN capping protein alpha 3 79 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) ATGTAATGGGCGACTACCGAT 0.418 PDE3A 5139 broad.mit.edu 37 12 20522766 20522766 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:20522766A>G uc001reh.1 + 1 570 c.548A>G c.(547-549)GAT>GGT p.D183G NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 183 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GTCGGGGAGGATCACTTACTC 0.721 LST-3TM12 338821 broad.mit.edu 37 12 21176223 21176223 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:21176223T>C uc010sin.1 + 5 586 c.586_splice c.e5+2 p.S196_splice SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Splice_Site_p.S243_splice NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 membrane transporter activity 0 TGGATCTGAGTAAGTACAATC 0.363 ST8SIA1 6489 broad.mit.edu 37 12 22354738 22354738 + Silent SNP C C G rs148302271 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:22354738C>G uc001rfo.3 - 5 1301 c.819G>C c.(817-819)CTG>CTC p.L273L ST8SIA1_uc009zix.2_Silent_p.L130L NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 273 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 GTCCTGTGGACAGGCGCTTGG 0.512 ERGIC2 51290 broad.mit.edu 37 12 29523049 29523049 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:29523049A>C uc001riv.2 - 3 346 c.213T>G c.(211-213)TCT>TCG p.S71S ERGIC2_uc001riw.2_RNA NM_016570 NP_057654 Q96RQ1 ERGI2_HUMAN PTX1 protein 71 Lumenal (Potential). vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus ovary(1) 1 Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184) Arsenic trioxide(DB01169) ATGATTACCTAGAAAAATCCT 0.279 BICD1 636 broad.mit.edu 37 12 32491898 32491898 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:32491898A>G uc001rku.2 + 8 2830 c.2749A>G c.(2749-2751)ACC>GCC p.T917A BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 917 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AAAAAGGTTAACCGTGGCTCC 0.507 ALG10 84920 broad.mit.edu 37 12 34177009 34177009 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:34177009T>C uc001rlm.2 + 2 603 c.284T>C c.(283-285)ATG>ACG p.M95T NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN asparagine-linked glycosylation 10 homolog 95 Cytoplasmic (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 skin(1) 1 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) TCCATTGGGATGCTCAGATTT 0.388 PRICKLE1 144165 broad.mit.edu 37 12 42854130 42854130 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:42854130G>A uc010skv.1 - 8 2264 c.1977C>T c.(1975-1977)CGC>CGT p.R659R PRICKLE1_uc001rnl.2_Silent_p.R659R|PRICKLE1_uc010skw.1_Silent_p.R659R|PRICKLE1_uc001rnm.2_Silent_p.R659R|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_001138353 Q96MT3 PRIC1_HUMAN prickle homolog 1 659 Arg/His-rich. 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) AATTGTAGACGCGTCTCCGAG 0.507 TMEM106C 79022 broad.mit.edu 37 12 48361046 48361046 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:48361046T>C uc001rqp.2 + 7 771 c.656_splice c.e7+2 p.R219_splice TMEM106C_uc001rqo.2_Splice_Site_p.R200_splice|TMEM106C_uc001rqr.2_Splice_Site_p.R219_splice|TMEM106C_uc001rqq.2_Splice_Site_p.R200_splice NM_024056 NP_076961 Q9BVX2 T106C_HUMAN transmembrane protein 106C isoform a endoplasmic reticulum membrane|integral to membrane 0 Acute lymphoblastic leukemia(13;0.11) GBM - Glioblastoma multiforme(48;0.241) CTTCATGCGGTGCGTCTCTCT 0.512 RND1 27289 broad.mit.edu 37 12 49259519 49259519 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:49259519A>G uc001rsn.2 - 1 135 c.32T>C c.(31-33)GTG>GCG p.V11A NM_014470 NP_055285 Q92730 RND1_HUMAN GTP-binding protein RHO6 precursor 11 actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction adherens junction|cytoskeleton|cytosol GTP binding|GTPase activity|receptor binding ovary(1) 1 ACATCTGGCCACGACTGGCTG 0.572 MLL2 8085 broad.mit.edu 37 12 49433919 49433919 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:49433919G>T uc001rta.3 - 31 7634 c.7634C>A c.(7633-7635)CCT>CAT p.P2545H NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2545 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CTTTAGGGAAGGCTCCCCTAC 0.632 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) KCNH3 23416 broad.mit.edu 37 12 49935503 49935503 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:49935503G>A uc001ruh.1 + 3 661 c.401G>A c.(400-402)AGC>AAC p.S134N KCNH3_uc010smj.1_Missense_Mutation_p.S74N NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H 134 PAC.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity 0 AAGGACATCAGCGAAACCAAG 0.592 FAM186B 84070 broad.mit.edu 37 12 49994341 49994341 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:49994341G>A uc001ruo.2 - 4 1255 c.1082C>T c.(1081-1083)CCG>CTG p.P361L FAM186B_uc010smk.1_Missense_Mutation_p.P271L NM_032130 NP_115506 Q8IYM0 F186B_HUMAN hypothetical protein LOC84070 361 protein complex ovary(1) 1 CTCCTTCATCGGTTCCTGTTG 0.562 FMNL3 91010 broad.mit.edu 37 12 50052276 50052276 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:50052276G>A uc001ruv.1 - 6 788 c.554C>T c.(553-555)TCG>TTG p.S185L FMNL3_uc001ruw.1_Intron|FMNL3_uc001ruu.1_Missense_Mutation_p.S35L NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 185 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 GAAGGGGGCCGACAGGGCGCT 0.602 KRT1 3848 broad.mit.edu 37 12 53070955 53070955 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:53070955T>C uc001sau.1 - 6 1201 c.1142A>G c.(1141-1143)CAG>CGG p.Q381R KRT1_uc001sav.1_Missense_Mutation_p.Q381R NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 381 Rod.|Coil 2. 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 AGCAGTGATCTGCAGCTCTTC 0.418 ITGB7 3695 broad.mit.edu 37 12 53585642 53585642 + Splice_Site SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:53585642C>T uc009zmv.2 - 14 2387 c.2316_splice c.e14+1 p.Q772_splice ITGB7_uc001scc.2_Splice_Site_p.Q772_splice|ITGB7_uc010snz.1_Splice_Site NM_000889 NP_000880 P26010 ITB7_HUMAN integrin, beta 7 precursor cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1) 8 AGTCTCCTCACCTGCTTCCAG 0.577 CBX5 23468 broad.mit.edu 37 12 54639915 54639915 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:54639915T>C uc001sfh.3 - 4 727 c.409A>G c.(409-411)ATG>GTG p.M137V CBX5_uc001sfk.3_Missense_Mutation_p.M137V|CBX5_uc001sfi.3_Missense_Mutation_p.M136V|CBX5_uc001sfj.3_Missense_Mutation_p.M137V NM_001127322 NP_001120794 P45973 CBX5_HUMAN heterochromatin protein 1-alpha 137 Chromo 2; shadow subtype. blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex methylated histone residue binding|protein binding, bridging|repressing transcription factor binding 0 ATTAGGAACATTAAATCACCA 0.423 ITGA7 3679 broad.mit.edu 37 12 56088079 56088079 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:56088079C>T uc001shh.2 - 18 2625 c.2405G>A c.(2404-2406)CGA>CAA p.R802Q ITGA7_uc001shg.2_Missense_Mutation_p.R798Q|ITGA7_uc010sps.1_Missense_Mutation_p.R705Q|ITGA7_uc009znw.2_Missense_Mutation_p.R45Q|ITGA7_uc009znx.2_Missense_Mutation_p.R679Q NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 842 Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 GACACGGGCTCGTGCAGAGAC 0.602 ERBB3 2065 broad.mit.edu 37 12 56481648 56481648 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:56481648A>G uc001sjh.2 + 6 876 c.683A>G c.(682-684)CAT>CGT p.H228R ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.H169R|ERBB3_uc001sji.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 228 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAGTGCTGCCATGATGAGTGT 0.537 ERBB3 2065 broad.mit.edu 37 12 56489535 56489535 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:56489535G>A uc001sjh.2 + 17 2193 c.2000G>A c.(1999-2001)CGT>CAT p.R667H ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Missense_Mutation_p.R24H|ERBB3_uc010sqc.1_Missense_Mutation_p.R608H|ERBB3_uc009zok.2_Missense_Mutation_p.R109H|ERBB3_uc001sjk.2_5'Flank NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 667 Cytoplasmic (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTCTACTGGCGTGGGCGCCGG 0.433 BAZ2A 11176 broad.mit.edu 37 12 57008967 57008967 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:57008967G>T uc001slq.1 - 3 761 c.567C>A c.(565-567)TCC>TCA p.S189S BAZ2A_uc001slp.1_Silent_p.S187S|BAZ2A_uc010sqr.1_Silent_p.S189S|BAZ2A_uc009zow.1_Intron NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 189 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 AAGTCTGTGGGGAGGTGAAAA 0.483 ATP5B 506 broad.mit.edu 37 12 57033768 57033768 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:57033768A>G uc001slr.2 - 8 1388 c.1283T>C c.(1282-1284)CTG>CCG p.L428P NM_001686 NP_001677 P06576 ATPB_HUMAN mitochondrial ATP synthase beta subunit 428 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism ovary(1) 1 ACTCACCTGCAGGATCTTTTG 0.468 SDR9C7 121214 broad.mit.edu 37 12 57324050 57324050 + Missense_Mutation SNP C C T rs142957654 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:57324050C>T uc010sqw.1 - 2 520 c.520G>A c.(520-522)GTC>ATC p.V174I NM_148897 NP_683695 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, 174 cytoplasm binding|oxidoreductase activity central_nervous_system(1) 1 AACTTGGAGACGCAGTAGCCA 0.547 GPR182 11318 broad.mit.edu 37 12 57389505 57389505 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:57389505G>A uc001smk.2 + 2 606 c.512G>A c.(511-513)CGG>CAG p.R171Q RDH16_uc010sqx.1_Intron NM_007264 NP_009195 O15218 GP182_HUMAN G protein-coupled receptor 182 171 Helical; Name=4; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(1) 1 CGAGTGCGGCGGGCCATGTGT 0.637 LRP1 4035 broad.mit.edu 37 12 57589962 57589962 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:57589962G>A uc001snd.2 + 55 9260 c.8794G>A c.(8794-8796)GAC>AAC p.D2932N NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 2932 LDL-receptor class A 20.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACTGTGGCGACAGCTCGGA 0.607 GLI1 2735 broad.mit.edu 37 12 57858504 57858504 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:57858504G>A uc001snx.2 + 4 320 c.242G>A c.(241-243)CGG>CAG p.R81Q GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 81 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) ACCAAGAAGCGGGCACTGTCC 0.582 GLI1 2735 broad.mit.edu 37 12 57861129 57861129 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:57861129G>A uc001snx.2 + 9 1004 c.926G>A c.(925-927)CGG>CAG p.R309Q GLI1_uc009zpq.2_Missense_Mutation_p.R181Q NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 309 C2H2-type 3. epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) GAAGGGTGCCGGAAGTCATAC 0.537 MDM1 56890 broad.mit.edu 37 12 68709980 68709980 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:68709980C>T uc001stz.2 - 8 1195 c.1059G>A c.(1057-1059)ACG>ACA p.T353T MDM1_uc010stc.1_Silent_p.T318T|MDM1_uc009zqv.1_Silent_p.T73T NM_017440 NP_059136 Q8TC05 MDM1_HUMAN mouse Mdm1 nuclear protein homolog isoform 1 353 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) GAGAAAAATGCGTCCCCTGAA 0.418 CPM 1368 broad.mit.edu 37 12 69265647 69265647 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:69265647A>G uc001sup.2 - 4 409 c.348T>C c.(346-348)AGT>AGC p.S116S CPM_uc001sur.2_Silent_p.S116S|CPM_uc001suq.2_Silent_p.S116S NM_198320 NP_938079 P14384 CBPM_HUMAN carboxypeptidase M precursor 116 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding 0 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GTATCCGGGTACTATTGATCA 0.468 CCT2 10576 broad.mit.edu 37 12 69981979 69981979 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:69981979C>T uc001svb.1 + 6 477 c.383C>T c.(382-384)GCG>GTG p.A128V CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Missense_Mutation_p.A128V|CCT2_uc010stl.1_Missense_Mutation_p.A81V NM_006431 NP_006422 P78371 TCPB_HUMAN chaperonin containing TCP1, subunit 2 128 'de novo' posttranslational protein folding nucleus ATP binding|unfolded protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) ACCATCATAGCGGGTTGGAGA 0.358 PTPRB 5787 broad.mit.edu 37 12 70963520 70963520 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:70963520T>C uc001swb.3 - 12 2945 c.2915A>G c.(2914-2916)TAC>TGC p.Y972C PTPRB_uc010sto.1_Missense_Mutation_p.Y972C|PTPRB_uc010stp.1_Missense_Mutation_p.Y882C|PTPRB_uc001swc.3_Missense_Mutation_p.Y1190C|PTPRB_uc001swa.3_Missense_Mutation_p.Y1102C|PTPRB_uc001swd.3_Missense_Mutation_p.Y1189C|PTPRB_uc009zrr.1_Missense_Mutation_p.Y1069C NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 972 Fibronectin type-III 11.|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) CATGATCTGGTACTGCTCCCC 0.527 PTPRR 5801 broad.mit.edu 37 12 71314119 71314119 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:71314119C>T uc001swi.1 - 1 468 c.52G>A c.(52-54)GCT>ACT p.A18T NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 18 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) TTACCTGCAGCGTGAAGATTA 0.537 TBC1D15 64786 broad.mit.edu 37 12 72315179 72315179 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:72315179T>C uc001swu.2 + 17 1874 c.1865T>C c.(1864-1866)GTG>GCG p.V622A TBC1D15_uc010stt.1_Missense_Mutation_p.V591A|TBC1D15_uc001swv.2_Missense_Mutation_p.V605A|TBC1D15_uc001sww.2_Missense_Mutation_p.V354A NM_022771 NP_073608 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 isoform 1 600 protein binding|Rab GTPase activator activity 0 AAAATTGATGTGGAAGATATA 0.289 TRHDE 29953 broad.mit.edu 37 12 72666936 72666936 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:72666936G>A uc001sxa.2 + 1 408 c.378G>A c.(376-378)TCG>TCA p.S126S LOC283392_uc010stv.1_5'UTR NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 126 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 AGCCGCCGTCGGAGGAGGAGC 0.721 E2F7 144455 broad.mit.edu 37 12 77458398 77458398 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:77458398T>C uc001sym.3 - 2 254 c.18A>G c.(16-18)TTA>TTG p.L6L E2F7_uc001syn.2_Silent_p.L6L NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 6 cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 CTTTTAGTGTTAAACAATTTA 0.348 SLC6A15 55117 broad.mit.edu 37 12 85264403 85264403 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:85264403A>G uc001szv.2 - 9 1842 c.1349T>C c.(1348-1350)ATG>ACG p.M450T SLC6A15_uc010sul.1_Missense_Mutation_p.M343T|SLC6A15_uc001szw.1_Missense_Mutation_p.M158T NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 450 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 AAAATGTGTCATCGCTTCTGT 0.423 PLXNC1 10154 broad.mit.edu 37 12 94620985 94620985 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:94620985G>T uc001tdc.2 + 9 2203 c.1954G>T c.(1954-1956)GGG>TGG p.G652W NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 652 Extracellular (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 GGAGAACAAGGGGAACAGAAC 0.483 HAL 3034 broad.mit.edu 37 12 96389536 96389536 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:96389536C>T uc001tem.1 - 2 450 c.153G>A c.(151-153)GCG>GCA p.A51A HAL_uc009zti.1_RNA|HAL_uc010suw.1_5'UTR|HAL_uc010sux.1_Silent_p.A51A NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 51 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) CAAGGAAGTGCGCGTCATCCA 0.632 SLC5A8 160728 broad.mit.edu 37 12 101603634 101603634 + Translation_Start_Site SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:101603634C>T uc001thz.3 - 1 383 c.-7G>A c.(-9--5)CCGTG>CCATG NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 CATGGCCGCACGGTCGCCTGA 0.711 SYCP3 50511 broad.mit.edu 37 12 102128805 102128805 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:102128805G>A uc001tiq.2 - 5 385 c.253C>T c.(253-255)CTT>TTT p.L85F SYCP3_uc001tir.2_Missense_Mutation_p.L85F|SYCP3_uc001tis.2_Missense_Mutation_p.L85F NM_153694 NP_710161 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 85 cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding 0 TTGGCAAGAAGAGCCTTGTTA 0.303 STAB2 55576 broad.mit.edu 37 12 104109638 104109638 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:104109638C>T uc001tjw.2 + 43 4769 c.4583C>T c.(4582-4584)GCG>GTG p.A1528V STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1528 Extracellular (Potential).|EGF-like 13. 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 GACAAGAATGCGGAGTGCACA 0.502 STAB2 55576 broad.mit.edu 37 12 104155138 104155138 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:104155138G>T uc001tjw.2 + 66 7495 c.7309G>T c.(7309-7311)GGG>TGG p.G2437W STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 2437 Extracellular (Potential).|FAS1 7. 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 TGCCTCCAATGGGATCATTCA 0.542 GLT8D2 83468 broad.mit.edu 37 12 104397048 104397048 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:104397048T>C uc001tkh.1 - 5 555 c.149A>G c.(148-150)GAG>GGG p.E50G GLT8D2_uc001tki.1_Missense_Mutation_p.E50G NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 50 Lumenal (Potential). integral to membrane transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 CACAGGAATCTCTTCTTCCAG 0.448 EID3 493861 broad.mit.edu 37 12 104698567 104698567 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:104698567G>A uc001tkw.2 + 1 1019 c.855G>A c.(853-855)CCG>CCA p.P285P 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 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus 0 TATTAGAGCCGATGAATGTTA 0.383 TXNRD1 7296 broad.mit.edu 37 12 104742171 104742171 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:104742171G>A uc010swk.1 + 17 1944 c.1922G>A c.(1921-1923)AGC>AAC p.S641N TXNRD1_uc010swl.1_Missense_Mutation_p.S491N|TXNRD1_uc010swm.1_Missense_Mutation_p.S543N|TXNRD1_uc010swn.1_Missense_Mutation_p.S491N|TXNRD1_uc010swo.1_Missense_Mutation_p.S491N|TXNRD1_uc010swp.1_Missense_Mutation_p.S453N|TXNRD1_uc010swq.1_Missense_Mutation_p.S541N|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.S557N NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 641 S -> R (in Ref. 3; AAC69621). cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 TCTGGGGCAAGCATCCTCCAG 0.532 NUAK1 9891 broad.mit.edu 37 12 106532331 106532331 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:106532331A>C uc001tlj.1 - 1 1481 c.101T>G c.(100-102)CTG>CGG p.L34R NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 34 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 CCTGGGCTCCAGGGCTGCAGT 0.721 POLR3B 55703 broad.mit.edu 37 12 106831541 106831541 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:106831541G>A uc001tlp.2 + 18 2161 c.1939G>A c.(1939-1941)GAA>AAA p.E647K POLR3B_uc001tlq.2_Missense_Mutation_p.E589K NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 647 innate immune response|positive regulation of 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 nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TGCACTGTACGAACACACAAT 0.328 RFX4 5992 broad.mit.edu 37 12 107126786 107126786 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:107126786C>T uc001tlr.2 + 15 1622 c.1556C>T c.(1555-1557)GCC>GTC p.A519V RFX4_uc001tls.2_Missense_Mutation_p.A528V|RFX4_uc001tlt.2_Missense_Mutation_p.A528V|RFX4_uc001tlv.2_Missense_Mutation_p.A425V NM_213594 NP_998759 Q33E94 RFX4_HUMAN regulatory factor X4 isoform c 519 transcription, DNA-dependent nucleus DNA binding upper_aerodigestive_tract(1) 1 GCAAAATCTGCCACATCTGTG 0.512 SART3 9733 broad.mit.edu 37 12 108917393 108917393 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:108917393C>T uc001tmz.1 - 19 2968 c.2733G>A c.(2731-2733)ACG>ACA p.T911T SART3_uc001tmy.1_Silent_p.T437T|SART3_uc009zux.1_Silent_p.T523T|SART3_uc010swx.1_Silent_p.T875T NM_014706 NP_055521 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T 911 RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding pancreas(1) 1 GAGACAGCTGCGTCCTTCCCT 0.567 Porokeratosis ACACB 32 broad.mit.edu 37 12 109577472 109577472 + Missense_Mutation SNP C C T rs140156252 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:109577472C>T uc001tob.2 + 2 381 c.262C>T c.(262-264)CGG>TGG p.R88W ACACB_uc001toc.2_Missense_Mutation_p.R88W NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 88 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) TGCCGGTCGGCGGAGAAACTC 0.637 ACACB 32 broad.mit.edu 37 12 109684178 109684178 + Silent SNP C C T rs147193472 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:109684178C>T uc001tob.2 + 39 5615 c.5496C>T c.(5494-5496)GGC>GGT p.G1832G ACACB_uc001toc.2_Silent_p.G1832G|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.G498G NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta 1832 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) CCAACAGTGGCGCCCGTATTG 0.587 KCTD10 83892 broad.mit.edu 37 12 109895795 109895795 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:109895795A>G uc001toi.1 - 4 562 c.474_splice c.e4+1 p.K158_splice KCTD10_uc001toh.1_Intron|KCTD10_uc009zvi.1_Splice_Site_p.K155_splice|KCTD10_uc001toj.1_Splice_Site_p.K167_splice|KCTD10_uc001tok.1_Splice_Site NM_031954 NP_114160 Q9H3F6 BACD3_HUMAN potassium channel tetramerisation domain proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex voltage-gated potassium channel activity 0 CCTCCAACATACCTTATTTGA 0.383 ANAPC7 51434 broad.mit.edu 37 12 110834095 110834095 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:110834095A>T uc001tqo.2 - 2 367 c.366T>A c.(364-366)AAT>AAA p.N122K ANAPC7_uc001tqp.3_Missense_Mutation_p.N122K NM_016238 NP_057322 Q9UJX3 APC7_HUMAN anaphase-promoting complex subunit 7 isoform a 122 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 protein phosphatase binding 0 TAGATGCAGAATTTCCAGTTG 0.363 ANAPC7 51434 broad.mit.edu 37 12 110834100 110834100 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:110834100C>T uc001tqo.2 - 2 362 c.361G>A c.(361-363)GGA>AGA p.G121R ANAPC7_uc001tqp.3_Missense_Mutation_p.G121R NM_016238 NP_057322 Q9UJX3 APC7_HUMAN anaphase-promoting complex subunit 7 isoform a 121 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 protein phosphatase binding 0 GCAGAATTTCCAGTTGAAGGT 0.353 CUX2 23316 broad.mit.edu 37 12 111779753 111779753 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:111779753G>A uc001tsa.1 + 21 3708 c.3555G>A c.(3553-3555)AAG>AAA p.K1185K NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1185 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 CACTGCGGAAGGCCTATCAGC 0.622 CUX2 23316 broad.mit.edu 37 12 111785603 111785603 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:111785603G>A uc001tsa.1 + 22 4088 c.3935G>A c.(3934-3936)GGC>GAC p.G1312D NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1312 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GAAGAGGCAGGCAGCCAGCCC 0.612 C12orf51 283450 broad.mit.edu 37 12 112668612 112668612 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:112668612C>T uc009zwc.2 - 33 4967 c.4949G>A c.(4948-4950)CGT>CAT p.R1650H C12orf51_uc001ttr.1_5'Flank NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 GATGAAGGGACGCACAGGATC 0.498 RBM19 9904 broad.mit.edu 37 12 114282497 114282497 + Missense_Mutation SNP G G A rs150329912 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:114282497G>A uc009zwi.2 - 23 2905 c.2761C>T c.(2761-2763)CGG>TGG p.R921W RBM19_uc001tvn.3_Missense_Mutation_p.R921W|RBM19_uc001tvm.2_Missense_Mutation_p.R921W NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 921 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) GCCGTCTTCCGCCGCAGGGCC 0.652 RBM19 9904 broad.mit.edu 37 12 114352803 114352803 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:114352803G>T uc009zwi.2 - 21 2673 c.2529C>A c.(2527-2529)GCC>GCA p.A843A RBM19_uc001tvn.3_Silent_p.A843A|RBM19_uc001tvm.2_Silent_p.A843A NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 843 RRM 6. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) CCCGGCTGTGGGCCTGGAAGG 0.607 FBXW8 26259 broad.mit.edu 37 12 117423059 117423059 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:117423059G>A uc001twg.1 + 6 966 c.884G>A c.(883-885)CGT>CAT p.R295H FBXW8_uc001twf.1_Missense_Mutation_p.R229H|FBXW8_uc009zwp.1_RNA NM_153348 NP_699179 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 isoform 295 protein binding ovary(2)|pancreas(1) 3 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) CCTGTTCATCGTTTTGAGCAC 0.423 NOS1 4842 broad.mit.edu 37 12 117660596 117660596 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:117660596T>G uc001twm.1 - 26 4585 c.3899A>C c.(3898-3900)GAG>GCG p.E1300A NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1300 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) CTGCAGGGTCTCTTCCCTGTA 0.577 KSR2 283455 broad.mit.edu 37 12 118105362 118105362 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:118105362C>T uc001two.2 - 5 1056 c.1001G>A c.(1000-1002)CGC>CAC p.R334H NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 363 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCGGAGGGAGCGCTCGGACAG 0.597 SRRM4 84530 broad.mit.edu 37 12 119563240 119563240 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:119563240G>A uc001txa.1 + 7 862 c.570G>A c.(568-570)TCG>TCA p.S190S NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 190 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 GCTGCCCCTCGCGGTCCCAGA 0.542 SPPL3 121665 broad.mit.edu 37 12 121205319 121205319 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:121205319C>T uc001tzd.2 - 9 1332 c.851G>A c.(850-852)CGC>CAC p.R284H SPPL3_uc009zwz.2_Missense_Mutation_p.R277H|SPPL3_uc001tzc.2_Missense_Mutation_p.R114H NM_139015 NP_620584 Q8TCT6 PSL4_HUMAN signal peptide peptidase 3 285 integral to membrane aspartic-type endopeptidase activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GTTGTCATAGCGAAGGACAAA 0.542 OASL 8638 broad.mit.edu 37 12 121461798 121461798 + Missense_Mutation SNP C C T rs80137384 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:121461798C>T uc001tzj.1 - 5 1048 c.1042G>A c.(1042-1044)GTG>ATG p.V348M OASL_uc001tzk.1_3'UTR NM_003733 NP_003724 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like isoform a 348 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) ATTACCTTCACGTTCCAGCTG 0.478 ANAPC5 51433 broad.mit.edu 37 12 121773377 121773377 + Silent SNP G G A rs151169485 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:121773377G>A uc001uag.2 - 7 1031 c.909C>T c.(907-909)GCC>GCT p.A303A ANAPC5_uc001uae.2_5'UTR|ANAPC5_uc010szv.1_5'UTR|ANAPC5_uc001uaf.2_RNA|ANAPC5_uc001uah.2_Silent_p.A204A|ANAPC5_uc001uai.1_5'UTR NM_016237 NP_057321 Q9UJX4 APC5_HUMAN anaphase-promoting complex subunit 5 isoform a 303 TPR 1. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|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 protein phosphatase binding|ubiquitin-protein ligase activity skin(3)|breast(2)|kidney(1) 6 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GATTCAGAGCGGCGTATCTCA 0.483 TMED2 10959 broad.mit.edu 37 12 124074934 124074934 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:124074934C>T uc001ufg.2 + 3 527 c.419C>T c.(418-420)GCG>GTG p.A140V NM_006815 NP_006806 Q15363 TMED2_HUMAN coated vesicle membrane protein precursor 140 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) CTAGCAGTGGCGATGACAGCT 0.408 EP400 57634 broad.mit.edu 37 12 132546710 132546710 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:132546710C>T uc001ujn.2 + 45 7975 c.7940C>T c.(7939-7941)GCA>GTA p.A2647V EP400_uc001ujl.2_Missense_Mutation_p.A2646V|EP400_uc001ujm.2_Missense_Mutation_p.A2566V|EP400_uc001ujp.2_5'Flank NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2683 Interaction with ZNF42 (By similarity). 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) CCGCCACGGGCAGTCGGCTCC 0.632 XPO4 64328 broad.mit.edu 37 13 21396422 21396422 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:21396422G>A uc001unq.3 - 8 883 c.847C>T c.(847-849)CGA>TGA p.R283* NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN exportin 4 283 protein transport cytoplasm|nucleus protein binding large_intestine(1)|ovary(1)|kidney(1) 3 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) CTGATTTTTCGATGTACCTGT 0.398 SACS 26278 broad.mit.edu 37 13 23909640 23909640 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:23909640C>A uc001uon.2 - 10 8964 c.8375G>T c.(8374-8376)AGG>ATG p.R2792M SACS_uc001uoo.2_Missense_Mutation_p.R2645M|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 2792 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) TTTGAGCTGCCTCTTTTTAGT 0.363 C1QTNF9B 387911 broad.mit.edu 37 13 24465776 24465776 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:24465776A>G uc010tcw.1 - 3 654 c.654T>C c.(652-654)GAT>GAC p.D218D MIPEP_uc001uox.3_5'Flank|PCOTH_uc001uoy.2_Silent_p.T10T|PCOTH_uc009zzx.2_Silent_p.T19T|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.1_Silent_p.D218D NM_001007537 NP_001007538 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 218 C1q. collagen 0 TAATGGGCACATCTGAAGAAG 0.438 C1QTNF9 338872 broad.mit.edu 37 13 24895558 24895558 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:24895558T>C uc001upj.2 + 4 715 c.654T>C c.(652-654)GAT>GAC p.D218D C1QTNF9_uc001upe.2_RNA NM_178540 NP_848635 P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 218 C1q. collagen hormone activity 0 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) CTTCTTCAGATATGCCCATTA 0.443 CENPJ 55835 broad.mit.edu 37 13 25466978 25466978 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:25466978G>A uc001upt.3 - 10 3272 c.3019C>T c.(3019-3021)CGG>TGG p.R1007W CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_Missense_Mutation_p.R41W NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 1007 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) AAATCTTCCCGTAAATCTGCT 0.348 MTIF3 219402 broad.mit.edu 37 13 28014139 28014139 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:28014139C>T uc001urh.2 - 1 1671 c.447G>A c.(445-447)GCG>GCA p.A149A MTIF3_uc001uri.2_Silent_p.A149A|MTIF3_uc001urj.2_Silent_p.A149A|MTIF3_uc001urk.2_Silent_p.A149A NM_152912 NP_690876 Q9H2K0 IF3M_HUMAN mitochondrial translational initiation factor 3 149 regulation of translational initiation|ribosome disassembly mitochondrion ribosomal small subunit binding|translation initiation factor activity ovary(1)|skin(1) 2 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157) TTTTGGGGTTCGCCTTCTCCA 0.488 FLT1 2321 broad.mit.edu 37 13 28964199 28964199 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:28964199G>A uc001usb.3 - 13 1988 c.1703C>T c.(1702-1704)ACG>ATG p.T568M FLT1_uc010aar.1_Missense_Mutation_p.T568M|FLT1_uc001usc.3_Missense_Mutation_p.T568M|FLT1_uc010aas.1_RNA|FLT1_uc010aat.1_Missense_Mutation_p.T51M NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 568 Ig-like C2-type 6.|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) CTCTCCTTCCGTCGGCATTTT 0.363 MTUS2 23281 broad.mit.edu 37 13 30071435 30071435 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:30071435G>A uc001usl.3 + 11 3728 c.3670G>A c.(3670-3672)GAA>AAA p.E1224K MTUS2_uc001usm.3_Missense_Mutation_p.E193K|MTUS2_uc010aau.2_Missense_Mutation_p.E103K|MTUS2_uc010tdq.1_5'UTR NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 1214 Potential. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 CCGCCGCTTCGAAGAGGCCTT 0.622 NBEA 26960 broad.mit.edu 37 13 36125122 36125122 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:36125122C>T uc001uvb.2 + 43 6965 c.6759C>T c.(6757-6759)AGC>AGT p.S2253S NBEA_uc010abi.2_Silent_p.S909S|NBEA_uc010tee.1_Silent_p.S46S|NBEA_uc010tef.1_Silent_p.S46S|NBEA_uc010teg.1_Silent_p.S46S NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2253 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) TTGTCTATAGCTTGCCTCGGG 0.373 NBEA 26960 broad.mit.edu 37 13 36229862 36229862 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:36229862A>G uc001uvb.2 + 54 8481 c.8275A>G c.(8275-8277)ATC>GTC p.I2759V NBEA_uc010abi.2_Missense_Mutation_p.I1415V|NBEA_uc010tef.1_Missense_Mutation_p.I552V|NBEA_uc001uvd.2_Missense_Mutation_p.I337V NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2759 WD 2. 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) GCGGCACCATATCATAGGAGA 0.443 DCLK1 9201 broad.mit.edu 37 13 36700232 36700232 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:36700232G>A uc001uvf.2 - 2 276 c.43C>T c.(43-45)CGG>TGG p.R15W NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 15 cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GCCTTATCCCGCTCGTCGAAG 0.597 FAM48A 55578 broad.mit.edu 37 13 37606025 37606025 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:37606025T>C uc001uwg.2 - 11 963 c.715A>G c.(715-717)AAG>GAG p.K239E FAM48A_uc010abt.2_Missense_Mutation_p.K240E|FAM48A_uc001uwh.2_Missense_Mutation_p.K240E|FAM48A_uc001uwi.2_Missense_Mutation_p.K239E|FAM48A_uc001uwj.2_Missense_Mutation_p.K240E|FAM48A_uc001uwk.2_Missense_Mutation_p.K239E|FAM48A_uc010tes.1_Missense_Mutation_p.K227E|FAM48A_uc001uwl.1_Missense_Mutation_p.K239E NM_001014286 NP_001014308 Q8NEM7 FA48A_HUMAN family with sequence similarity 48, member A 239 autophagy|gastrulation SAGA-type complex protein binding 0 Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959) all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477) GAATACCTCTTGAAACACCTG 0.353 ENOX1 55068 broad.mit.edu 37 13 43900656 43900656 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:43900656G>A uc001uza.3 - 10 1342 c.1042C>T c.(1042-1044)CAG>TAG p.Q348* ENOX1_uc001uzb.3_Nonsense_Mutation_p.Q348*|ENOX1_uc001uzc.3_Nonsense_Mutation_p.Q348*|ENOX1_uc001uyz.3_Intron|ENOX1_uc010tfm.1_Nonsense_Mutation_p.Q161* NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 348 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) GCCACAATCTGCTCAACTTTG 0.423 CAB39L 81617 broad.mit.edu 37 13 49918346 49918346 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:49918346A>G uc001vcw.2 - 6 1091 c.593T>C c.(592-594)GTA>GCA p.V198A CAB39L_uc001vcx.2_Missense_Mutation_p.V198A|CAB39L_uc010adf.2_Missense_Mutation_p.V195A NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 198 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) GAAGTCTGCTACCAACACTTT 0.318 NEK3 4752 broad.mit.edu 37 13 52726773 52726773 + Missense_Mutation SNP G G A rs138876819 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:52726773G>A uc001vgi.2 - 5 599 c.364C>T c.(364-366)CGT>TGT p.R122C NEK3_uc001vgg.2_Missense_Mutation_p.R116C|NEK3_uc001vgh.2_Missense_Mutation_p.R143C|NEK3_uc010tgx.1_RNA|NEK3_uc010tgy.1_Missense_Mutation_p.R122C NM_152720 NP_689933 P51956 NEK3_HUMAN NIMA-related kinase 3 isoform a 122 Interaction with VAV2.|Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) TGTAGCACACGTTTCTTGTGA 0.353 THSD1 55901 broad.mit.edu 37 13 52952397 52952397 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:52952397C>T uc001vgo.2 - 5 2253 c.1708G>A c.(1708-1710)GCT>ACT p.A570T THSD1_uc001vgp.2_Missense_Mutation_p.A517T|THSD1_uc010tgz.1_Missense_Mutation_p.A191T|THSD1_uc010aea.2_Missense_Mutation_p.A31T NM_018676 NP_061146 Q9NS62 THSD1_HUMAN thrombospondin type I domain-containing 1 570 Cytoplasmic (Potential). extracellular region|integral to membrane|intracellular membrane-bounded organelle ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) TCTAAGGGAGCGCTGGGGGCC 0.542 OLFM4 10562 broad.mit.edu 37 13 53617325 53617325 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:53617325T>C uc001vhl.2 + 4 656 c.656T>C c.(655-657)CTG>CCG p.L219P OLFM4_uc001vhk.1_Intron NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 219 Potential. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) ATCGTGGCTCTGAAGACCAAG 0.443 PCDH17 27253 broad.mit.edu 37 13 58208476 58208476 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:58208476G>A uc001vhq.1 + 1 2688 c.1796G>A c.(1795-1797)CGC>CAC p.R599H PCDH17_uc010aec.1_Missense_Mutation_p.R599H NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 599 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CAGGTGCCGCGCAACGCTGGC 0.647 FBXL3 26224 broad.mit.edu 37 13 77592810 77592810 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:77592810C>T uc001vkd.2 - 3 767 c.396G>A c.(394-396)TCG>TCA p.S132S NM_012158 NP_036290 Q9UKT7 FBXL3_HUMAN F-box and leucine-rich repeat protein 3 132 LRR 1. regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleus|SCF ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity 0 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218) GBM - Glioblastoma multiforme(99;0.0521) TCACAAGTTGCGATAGTATAT 0.333 MYCBP2 23077 broad.mit.edu 37 13 77625209 77625209 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:77625209T>C uc001vkf.2 - 83 13821 c.13730A>G c.(13729-13731)CAT>CGT p.H4577R MYCBP2_uc010aev.2_Missense_Mutation_p.H3981R|MYCBP2_uc001vke.2_Missense_Mutation_p.H1194R NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4577 B box-type. 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) ATTACAAAAATGTGTTGTTCC 0.353 MYCBP2 23077 broad.mit.edu 37 13 77632536 77632536 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:77632536G>A uc001vkf.2 - 79 13123 c.13032C>T c.(13030-13032)TAC>TAT p.Y4344Y MYCBP2_uc010aev.2_Silent_p.Y3748Y|MYCBP2_uc001vke.2_Silent_p.Y961Y NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4344 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) CTATCTTAGCGTATTCCTGTT 0.388 SLITRK1 114798 broad.mit.edu 37 13 84455408 84455408 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:84455408C>T uc001vlk.2 - 1 1121 c.235G>A c.(235-237)GCT>ACT p.A79T NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 79 LRR 1.|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) TAAAAGTTAGCGAACTCATTA 0.478 SLITRK5 26050 broad.mit.edu 37 13 88330378 88330378 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:88330378G>A uc001vln.2 + 2 2954 c.2735G>A c.(2734-2736)CGG>CAG p.R912Q SLITRK5_uc010tic.1_Missense_Mutation_p.R671Q NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 912 Cytoplasmic (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) AGCAGGCTACGGGAACCGGTG 0.557 TMTC4 84899 broad.mit.edu 37 13 101287360 101287360 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:101287360C>T uc001vou.2 - 10 1395 c.1235G>A c.(1234-1236)CGT>CAT p.R412H TMTC4_uc001vot.2_Missense_Mutation_p.R431H|TMTC4_uc010tja.1_Missense_Mutation_p.R301H|TMTC4_uc001vov.1_Missense_Mutation_p.R157H|TMTC4_uc001vow.1_Missense_Mutation_p.R195H NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 412 integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GTAGAGGACACGCTCTGCGAC 0.527 MYO16 23026 broad.mit.edu 37 13 109793696 109793696 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:109793696G>A uc001vqt.1 + 32 5196 c.5070G>A c.(5068-5070)GCG>GCA p.A1690A MYO16_uc010agk.1_Silent_p.A1712A NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1690 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) GGAAATCCGCGGCGGGAAGAA 0.622 COL4A1 1282 broad.mit.edu 37 13 110804806 110804806 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:110804806G>A uc001vqw.3 - 51 4925 c.4803C>T c.(4801-4803)CCC>CCT p.P1601P COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1601 Collagen IV NC1. 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) GGCAGGAGCCGGGGGACGCCA 0.602 PCID2 55795 broad.mit.edu 37 13 113850525 113850525 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:113850525C>T uc010tju.1 - 5 359 c.278G>A c.(277-279)CGA>CAA p.R93Q PCID2_uc010tjv.1_Missense_Mutation_p.R93Q|PCID2_uc010tjw.1_Missense_Mutation_p.R93Q|PCID2_uc001vte.2_5'UTR|PCID2_uc001vtd.2_5'UTR|PCID2_uc001vtf.2_5'UTR NM_001127203 NP_001120675 Q5JVF3 PCID2_HUMAN PCI domain containing 2 93 negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development protein binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.216)|all_epithelial(44;0.234) all cancers(43;0.104) CTGGAATGCTCGCAAGAATGA 0.323 CUL4A 8451 broad.mit.edu 37 13 113900295 113900295 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:113900295G>A uc010tjy.1 + 16 1567 c.1556G>A c.(1555-1557)GGC>GAC p.G519D CUL4A_uc010tjx.1_Missense_Mutation_p.G419D|CUL4A_uc010agu.2_Missense_Mutation_p.G380D|CUL4A_uc010tjz.1_Missense_Mutation_p.G198D NM_001008895 NP_001008895 Q13619 CUL4A_HUMAN cullin 4A isoform 1 519 cell cycle arrest|DNA repair|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 Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding central_nervous_system(2)|skin(1) 3 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) AGTGACTCAGGCCCTATAGAC 0.398 GRTP1 79774 broad.mit.edu 37 13 113978839 113978839 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:113978839G>A uc001vtn.2 - 8 1072 c.975C>T c.(973-975)CGC>CGT p.R325R NM_024719 NP_078995 Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 325 intracellular Rab GTPase activator activity 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) TGCAGCTCTCGCGGAGCTTGG 0.542 FLJ10357 55701 broad.mit.edu 37 14 21557002 21557002 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:21557002C>T uc001vzp.2 + 23 4561 c.4532C>T c.(4531-4533)GCC>GTC p.A1511V FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Missense_Mutation_p.A749V NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 1511 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) CATGCTCGAGCCCTGAGTGAC 0.517 ACIN1 22985 broad.mit.edu 37 14 23531715 23531715 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:23531715T>C uc001wit.3 - 15 3403 c.3075A>G c.(3073-3075)TTA>TTG p.L1025L ACIN1_uc001wio.3_RNA|ACIN1_uc001wip.3_Silent_p.L267L|ACIN1_uc001wiq.3_Silent_p.L267L|ACIN1_uc001wir.3_Silent_p.L298L|ACIN1_uc001wis.3_Silent_p.L706L|ACIN1_uc010akg.2_Silent_p.L1012L NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 1025 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) TTAGCTGGCCTAAAGTGAAAG 0.493 ACIN1 22985 broad.mit.edu 37 14 23548926 23548926 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:23548926T>C uc001wit.3 - 6 2120 c.1792A>G c.(1792-1794)AGT>GGT p.S598G ACIN1_uc001wis.3_Missense_Mutation_p.S280G|ACIN1_uc010akg.2_Missense_Mutation_p.S598G|ACIN1_uc010tnj.1_Missense_Mutation_p.S558G NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 598 Ser-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) GAACCTGAACTGTCAGGAGAG 0.532 SLC22A17 51310 broad.mit.edu 37 14 23818484 23818484 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:23818484T>C uc001wjl.2 - 3 579 c.523A>G c.(523-525)ATG>GTG p.M175V SLC22A17_uc010akk.2_5'UTR|SLC22A17_uc001wjn.2_RNA|SLC22A17_uc001wjm.2_Missense_Mutation_p.M175V|SLC22A17_uc010akl.1_Missense_Mutation_p.M175V NM_020372 NP_065105 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 isoform a 175 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity 0 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) CACTTACGCATCAGGTAGACA 0.612 MYH6 4624 broad.mit.edu 37 14 23858084 23858084 + Nonsense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:23858084C>A uc001wjv.2 - 29 4226 c.4159G>T c.(4159-4161)GAG>TAG p.E1387* uc010tnn.1_5'Flank|MIR208A_hsa-mir-208a|MI0000251_5'Flank NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1387 Potential. 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) TCTTCGAGCTCCTCAGTCCGC 0.617 LRRC16B 90668 broad.mit.edu 37 14 24529859 24529859 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:24529859G>A uc001wlj.2 + 25 2241 c.2084G>A c.(2083-2085)CGA>CAA p.R695Q LRRC16B_uc001wlk.2_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 695 ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(265;0.019) CTGTGTGGACGAGTGCAGGAG 0.607 CPNE6 9362 broad.mit.edu 37 14 24546502 24546502 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:24546502G>A uc001wll.2 + 15 1538 c.1439G>A c.(1438-1440)CGG>CAG p.R480Q CPNE6_uc010tnv.1_Missense_Mutation_p.R535Q|CPNE6_uc001wlm.2_Missense_Mutation_p.R305Q|CPNE6_uc001wln.2_Missense_Mutation_p.R148Q NM_006032 NP_006023 O95741 CPNE6_HUMAN copine 6 480 VWFA. lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport calcium ion binding|transporter activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0184) TCTGACATGCGGCTGCTGGAT 0.627 TM9SF1 10548 broad.mit.edu 37 14 24659680 24659680 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:24659680A>G uc001wnb.1 - 5 1681 c.1333T>C c.(1333-1335)TGT>CGT p.C445R IPO4_uc001wmu.2_5'Flank|IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc001wmz.1_5'UTR|TM9SF1_uc010toa.1_Missense_Mutation_p.C358R|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.C680R|TM9SF1_uc001wnc.2_Missense_Mutation_p.C445R NM_006405 NP_006396 O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 isoform a 445 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0183) TTGGTGCGACAGGGTGCATCA 0.562 HECTD1 25831 broad.mit.edu 37 14 31614149 31614149 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:31614149T>C uc001wrc.1 - 16 2986 c.2497_splice c.e16-1 p.V833_splice HECTD1_uc001wrd.1_Splice_Site_p.V348_splice NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 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) AGTTCGTACCTACCAAAATAA 0.343 BRMS1L 84312 broad.mit.edu 37 14 36302297 36302297 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:36302297G>A uc001wtl.2 + 3 473 c.347G>A c.(346-348)CGT>CAT p.R116H BRMS1L_uc010tpx.1_Missense_Mutation_p.R68H NM_032352 NP_115728 Q5PSV4 BRM1L_HUMAN breast cancer metastasis-suppressor 1-like 116 regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus skin(1) 1 Breast(36;0.137)|Hepatocellular(127;0.158) Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158) GBM - Glioblastoma multiforme(112;0.0333) ATGCAAATTCGTACAAAGGTA 0.363 KLHL28 54813 broad.mit.edu 37 14 45414495 45414495 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:45414495G>A uc001wvq.2 - 2 883 c.637C>T c.(637-639)CGC>TGC p.R213C KLHL28_uc001wvr.2_Missense_Mutation_p.R213C|KLHL28_uc001wvt.3_Missense_Mutation_p.R213C NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 213 ovary(1) 1 TATTTCTGGCGTTCTTGTACA 0.353 FAM179B 23116 broad.mit.edu 37 14 45432458 45432458 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:45432458C>T uc001wvv.2 + 1 1043 c.834C>T c.(832-834)TCC>TCT p.S278S FAM179B_uc001wvw.2_Silent_p.S278S|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.S278S|FAM179B_uc001wvu.2_Silent_p.S278S NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 278 binding skin(2)|upper_aerodigestive_tract(1) 3 CAGCTTTCTCCGCACTTCAAC 0.507 FANCM 57697 broad.mit.edu 37 14 45642325 45642325 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:45642325C>A uc001wwd.3 + 13 2327 c.2228C>A c.(2227-2229)CCT>CAT p.P743H FANCM_uc010anf.2_Missense_Mutation_p.P717H|FANCM_uc001wwe.3_Missense_Mutation_p.P279H|FANCM_uc010ang.2_5'Flank NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 743 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 CAAGATCATCCTTTGCCTACA 0.388 Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia SOS2 6655 broad.mit.edu 37 14 50597471 50597471 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:50597471A>T uc001wxs.3 - 20 3183 c.3085T>A c.(3085-3087)TCA>ACA p.S1029T SOS2_uc010ans.2_5'UTR|SOS2_uc010tql.1_Missense_Mutation_p.S996T NM_006939 NP_008870 Q07890 SOS2_HUMAN son of sevenless homolog 2 1029 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 cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(2) 2 all_epithelial(31;0.000822)|Breast(41;0.0065) GAAAAAGTTGATTTCCTAGGC 0.378 FERMT2 10979 broad.mit.edu 37 14 53331480 53331480 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:53331480C>T uc001xad.2 - 11 1420 c.1365G>A c.(1363-1365)TGG>TGA p.W455* FERMT2_uc001xac.2_Nonsense_Mutation_p.W455*|FERMT2_uc001xae.2_Nonsense_Mutation_p.W455*|FERMT2_uc001xaf.2_Nonsense_Mutation_p.W455* NM_006832 NP_006823 Q96AC1 FERM2_HUMAN fermitin family homolog 2 isoform 1 455 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) CACAACGAAGCCAGATTTCAT 0.348 C14orf105 55195 broad.mit.edu 37 14 57949848 57949848 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:57949848G>A uc001xcy.2 - 3 471 c.328C>T c.(328-330)CCA>TCA p.P110S C14orf105_uc010trl.1_Missense_Mutation_p.P110S|C14orf105_uc010trm.1_Missense_Mutation_p.P22S|C14orf105_uc010trn.1_Missense_Mutation_p.P22S|C14orf105_uc001xcz.2_Missense_Mutation_p.P110S|C14orf105_uc010aox.1_RNA|C14orf105_uc010aoy.1_Missense_Mutation_p.P32S NM_018168 NP_060638 Q9NVL8 CN105_HUMAN hypothetical protein LOC55195 110 0 ATTACTCGTGGCAAGTCAATG 0.458 SYT16 83851 broad.mit.edu 37 14 62567321 62567321 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:62567321C>A uc001xfu.1 + 6 2031 c.1834C>A c.(1834-1836)CTG>ATG p.L612M SYT16_uc010tse.1_Missense_Mutation_p.L170M NM_031914 NP_114120 Q17RD7 SYT16_HUMAN synaptotagmin XIV-like 612 central_nervous_system(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) CTGGATTGCCCTGGGCCAGAA 0.498 PPP2R5E 5529 broad.mit.edu 37 14 63851209 63851209 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:63851209G>A uc001xgd.1 - 12 1745 c.1155C>T c.(1153-1155)CCC>CCT p.P385P PPP2R5E_uc010tsf.1_Silent_p.P309P|PPP2R5E_uc010tsg.1_Silent_p.P309P|PPP2R5E_uc001xge.2_Silent_p.P385P|PPP2R5E_uc010tsh.1_Silent_p.P385P|PPP2R5E_uc001xgf.1_RNA NM_006246 NP_006237 Q16537 2A5E_HUMAN epsilon isoform of regulatory subunit B56, 385 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) AAAACATGATGGGAAGGATGA 0.368 MTHFD1 4522 broad.mit.edu 37 14 64896929 64896929 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:64896929A>G uc001xhb.2 + 13 1679 c.1292A>G c.(1291-1293)CAG>CGG p.Q431R MTHFD1_uc010aqe.2_Missense_Mutation_p.Q467R|MTHFD1_uc010aqf.2_Missense_Mutation_p.Q487R NM_005956 NP_005947 P11586 C1TC_HUMAN methylenetetrahydrofolate dehydrogenase 1 431 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) GGCTACTCCCAGGTCATTCCT 0.478 OREG0022729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SPTB 6710 broad.mit.edu 37 14 65289773 65289773 + Missense_Mutation SNP G G A rs147059670 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:65289773G>A uc001xht.2 - 1 94 c.40C>T c.(40-42)CCA>TCA p.P14S SPTB_uc001xhr.2_Missense_Mutation_p.P14S|SPTB_uc001xhs.2_Missense_Mutation_p.P14S|SPTB_uc001xhu.2_Missense_Mutation_p.P14S NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 14 Actin-binding. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CTGTAAGGTGGCTGGTTGCCC 0.572 OREG0022736 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ARG2 384 broad.mit.edu 37 14 68113365 68113365 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:68113365C>A uc001xjs.2 + 5 643 c.527C>A c.(526-528)CCA>CAA p.P176Q NM_001172 NP_001163 P78540 ARGI2_HUMAN arginase 2 precursor 176 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding 0 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) TCATAGGTACCACAACTCCCA 0.423 PNMA1 9240 broad.mit.edu 37 14 74180118 74180118 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:74180118G>A uc001xor.1 - 1 1011 c.225C>T c.(223-225)GCC>GCT p.A75A NM_006029 NP_006020 Q8ND90 PNMA1_HUMAN paraneoplastic antigen MA1 75 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) tggggatcgcggcgtaatcta 0 LTBP2 4053 broad.mit.edu 37 14 74975348 74975348 + Missense_Mutation SNP G G A rs45468895 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:74975348G>A uc001xqa.2 - 24 3998 c.3611C>T c.(3610-3612)GCG>GTG p.A1204V NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1204 Cys-rich.|EGF-like 12; calcium-binding (Potential). protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GAAGCCAGGCGCGCACAGACA 0.622 LTBP2 4053 broad.mit.edu 37 14 75019032 75019032 + Silent SNP G G A rs150977144 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:75019032G>A uc001xqa.2 - 6 1644 c.1257C>T c.(1255-1257)CCC>CCT p.P419P NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 419 EGF-like 2. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TGGAGTTGGCGGGGCACCAGC 0.657 C14orf148 122945 broad.mit.edu 37 14 77873148 77873148 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:77873148C>T uc001xtr.2 - 4 748 c.601G>A c.(601-603)GTC>ATC p.V201I C14orf148_uc010tvi.1_Missense_Mutation_p.V201I NM_001113475 NP_001106946 Q6NXP6 CN148_HUMAN hypothetical protein LOC122945 isoform 1 201 proline biosynthetic process binding|pyrroline-5-carboxylate reductase activity 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0277) GCCCCCCAGACGCTGACAGAA 0.488 VIPAR 63894 broad.mit.edu 37 14 77917640 77917640 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:77917640C>T uc001xtt.1 - 5 571 c.233G>A c.(232-234)AGC>AAC p.S78N VIPAR_uc001xtu.1_Missense_Mutation_p.S78N|VIPAR_uc010tvj.1_Intron|VIPAR_uc001xtv.1_Missense_Mutation_p.S78N NM_022067 NP_071350 Q9H9C1 VIPAR_HUMAN hypothetical protein LOC63894 78 endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent early endosome|late endosome|recycling endosome protein binding central_nervous_system(1) 1 GGTTGAGCCGCTATTACCAGC 0.483 ALKBH1 8846 broad.mit.edu 37 14 78174225 78174225 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:78174225T>G uc001xuc.1 - 1 132 c.123A>C c.(121-123)GAA>GAC p.E41D ALKBH1_uc001xud.1_RNA|C14orf156_uc001xue.3_5'Flank NM_006020 NP_006011 Q13686 ALKB1_HUMAN alkylated DNA repair protein alkB homolog 41 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1)|skin(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CGATGACCCCTTCCAGGTCTG 0.652 OREG0022840 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ADCK1 57143 broad.mit.edu 37 14 78325507 78325507 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:78325507T>C uc001xui.2 + 4 407 c.308T>C c.(307-309)CTG>CCG p.L103P ADCK1_uc010tvo.1_RNA|ADCK1_uc001xuj.2_Intron|ADCK1_uc001xuk.1_5'UTR NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 isoform a 110 extracellular region ATP binding|protein serine/threonine kinase activity stomach(2)|ovary(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) CTGGGGGCTCTGGACTACCTG 0.612 NRXN3 9369 broad.mit.edu 37 14 78709917 78709917 + RNA SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:78709917C>A uc001xum.1 + 2 c.1274C>A 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) ACCTTCTGCCCTGACCCTTGA 0.592 NRXN3 9369 broad.mit.edu 37 14 79181418 79181418 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:79181418C>T uc001xun.2 + 5 1352 c.861C>T c.(859-861)GAC>GAT p.D287D NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Silent_p.D421D NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 660 EGF-like 2.|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) TGTGCAAGGACGGCTGGAACC 0.577 FLRT2 23768 broad.mit.edu 37 14 86088697 86088697 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:86088697G>A uc001xvr.2 + 2 1606 c.839G>A c.(838-840)CGG>CAG p.R280Q FLRT2_uc010atd.2_Missense_Mutation_p.R280Q NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 280 Extracellular (Potential).|LRR 10. 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) AAGCTGGAACGGCTGGATATA 0.483 KCNK10 54207 broad.mit.edu 37 14 88652342 88652342 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:88652342C>T uc001xwo.2 - 7 1611 c.1154G>A c.(1153-1155)CGG>CAG p.R385Q KCNK10_uc001xwm.2_Missense_Mutation_p.R390Q|KCNK10_uc001xwn.2_Missense_Mutation_p.R390Q NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 385 Cytoplasmic (Potential). signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 TGAGTGGGCCCGCTGGTCCAG 0.667 CALM1 801 broad.mit.edu 37 14 90870757 90870757 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:90870757G>A uc001xyl.1 + 5 522 c.320G>A c.(319-321)CGT>CAT p.R107H CALM1_uc010atq.1_Missense_Mutation_p.R108H|CALM1_uc010atr.1_RNA|CALM1_uc001xym.1_Missense_Mutation_p.R71H NM_006888 NP_008819 P62158 CALM_HUMAN calmodulin 1 isoform 1 107 EF-hand 3. activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding central_nervous_system(1) 1 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.208) Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069) GCAGAACTACGTCACGTCATG 0.393 RPS6KA5 9252 broad.mit.edu 37 14 91338514 91338514 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:91338514G>A uc001xys.2 - 17 2528 c.2313C>T c.(2311-2313)CAC>CAT p.H771H RPS6KA5_uc010twi.1_Silent_p.H692H NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 771 axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) TAGTTTTACCGTGAGAATGAG 0.507 GOLGA5 9950 broad.mit.edu 37 14 93275769 93275769 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:93275769C>A uc001yaz.1 + 4 1079 c.897C>A c.(895-897)TCC>TCA p.S299S NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 299 Cytoplasmic (Potential).|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) CAAAGGATTCCCAGCTGGCTG 0.488 T RET papillary thyroid BTBD7 55727 broad.mit.edu 37 14 93712224 93712224 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:93712224T>C uc001ybo.2 - 10 2856 c.2530A>G c.(2530-2532)ACC>GCC p.T844A BTBD7_uc010aur.2_Missense_Mutation_p.T369A|BTBD7_uc010two.1_Missense_Mutation_p.T664A|BTBD7_uc001ybp.2_Missense_Mutation_p.T493A NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 844 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) gAGGTGGTGGTGGCGGCAGCA 0.468 KIAA1409 57578 broad.mit.edu 37 14 94007031 94007031 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:94007031G>A uc001ybv.1 + 10 930 c.847G>A c.(847-849)GCT>ACT p.A283T KIAA1409_uc001ybs.1_Missense_Mutation_p.A283T|KIAA1409_uc001ybu.1_Missense_Mutation_p.A221T NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 460 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) CGAGTTCCATGCTGAGCAGCG 0.488 BCL11B 64919 broad.mit.edu 37 14 99642456 99642456 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:99642456G>A uc001yga.2 - 4 984 c.717C>T c.(715-717)CAC>CAT p.H239H BCL11B_uc001ygb.2_Silent_p.H168H NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B isoform 1 239 C2H2-type 1. nucleus zinc ion binding central_nervous_system(8)|large_intestine(1)|lung(1) 10 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TGTTCTGCGCGTGCTGCAGCA 0.647 T TLX3 T-ALL C14orf68 283600 broad.mit.edu 37 14 100795815 100795815 + Missense_Mutation SNP C C T rs143013015 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:100795815C>T uc001yhc.2 + 6 833 c.760C>T c.(760-762)CGC>TGC p.R254C C14orf68_uc001yhd.2_Missense_Mutation_p.R108C NM_207117 NP_997000 Q6Q0C1 S2547_HUMAN chromosome 14 open reading frame 68 254 Solcar 3. transmembrane transport integral to membrane|mitochondrial inner membrane binding 0 Melanoma(154;0.152) GGGCCAGAGGCGCTACCGGGG 0.667 WDR25 79446 broad.mit.edu 37 14 100996336 100996336 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:100996336C>T uc010avx.2 + 7 1686 c.1593C>T c.(1591-1593)CTC>CTT p.L531L WDR25_uc001yhm.2_Silent_p.L523L|WDR25_uc001yhn.2_Silent_p.L531L|WDR25_uc010avy.2_RNA|WDR25_uc001yho.2_Silent_p.L274L NM_001161476 NP_001154948 Q64LD2 WDR25_HUMAN WD repeat domain 25 531 WD 7. 0 Melanoma(154;0.212) CCTCCGTCCTCGCCACCTGCT 0.617 BEGAIN 57596 broad.mit.edu 37 14 101004698 101004698 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:101004698C>T uc010txa.1 - 6 1536 c.1390G>A c.(1390-1392)GCC>ACC p.A464T BEGAIN_uc001yhp.2_Missense_Mutation_p.A400T|BEGAIN_uc001yhq.2_Missense_Mutation_p.A464T NM_001159531 NP_001153003 Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 464 cytoplasm|membrane protein binding 0 Melanoma(154;0.212) AGCGGGCTGGCGCGGCCGTCG 0.736 DLK1 8788 broad.mit.edu 37 14 101198519 101198519 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:101198519G>A uc001yhs.3 + 4 556 c.403G>A c.(403-405)GGC>AGC p.G135S DLK1_uc001yhu.3_Missense_Mutation_p.G135S NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 135 Extracellular (Potential).|EGF-like 4. multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) TGTGATCAACGGGTAAATATC 0.542 RCOR1 23186 broad.mit.edu 37 14 103148247 103148247 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:103148247G>A uc001ymb.2 + 3 368 c.368G>A c.(367-369)CGC>CAC p.R123H NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN REST corepressor 1 123 Interaction with HDAC1.|ELM2. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding ovary(1) 1 CTGGCAAGACGCAGTCAAGAA 0.358 AHNAK2 113146 broad.mit.edu 37 14 105406225 105406225 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:105406225C>T uc010axc.1 - 7 15683 c.15563G>A c.(15562-15564)AGC>AAC p.S5188N AHNAK2_uc001ypx.2_Missense_Mutation_p.S5088N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5188 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) TTTAAACCAGCTTTCCTGCGA 0.562 BRF1 2972 broad.mit.edu 37 14 105688094 105688094 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:105688094G>A uc001yqp.2 - 11 1569 c.1206C>T c.(1204-1206)GGC>GGT p.G402G BRF1_uc010tyo.1_Silent_p.G287G|BRF1_uc010typ.1_Silent_p.G287G|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Silent_p.G198G|BRF1_uc001yqo.2_Silent_p.G164G|BRF1_uc010axg.1_Silent_p.G375G|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR NM_001519 NP_001510 Q92994 TF3B_HUMAN transcription initiation factor IIIB isoform 1 402 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) GAGGTCTGCCGCCCCACTCGG 0.667 NDN 4692 broad.mit.edu 37 15 23932203 23932203 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:23932203G>A uc001ywk.2 - 1 248 c.162C>T c.(160-162)GCC>GCT p.A54A NM_002487 NP_002478 Q99608 NECD_HUMAN necdin 54 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GAGGCGGCGCGGCCTGCGGAG 0.771 Prader-Willi_syndrome HERC2 8924 broad.mit.edu 37 15 28420752 28420752 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:28420752C>T uc001zbj.2 - 64 9843 c.9737G>A c.(9736-9738)CGG>CAG p.R3246Q NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3246 RCC1 11. 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) CTGTGGTTTCCGCACGTGCAC 0.592 HERC2 8924 broad.mit.edu 37 15 28518100 28518100 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:28518100T>C uc001zbj.2 - 8 957 c.851A>G c.(850-852)CAG>CGG p.Q284R HERC2_uc001zbl.1_5'UTR NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 284 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) GTGCTGGTCCTGCAGGGGGAT 0.612 APBA2 321 broad.mit.edu 37 15 29385352 29385352 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:29385352C>T uc001zck.2 + 6 1351 c.1144C>T c.(1144-1146)CTG>TTG p.L382L APBA2_uc010azj.2_Silent_p.L382L|APBA2_uc010uat.1_Silent_p.L382L|APBA2_uc001zcl.2_Silent_p.L382L|APBA2_uc001zcm.1_Silent_p.L86L NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 382 PID. 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) GTCCACCCAGCTGCTATCAGA 0.582 OTUD7A 161725 broad.mit.edu 37 15 31818590 31818590 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:31818590C>T uc001zfq.2 - 6 927 c.834G>A c.(832-834)CCG>CCA p.P278P OTUD7A_uc001zfr.2_Silent_p.P285P NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 278 OTU.|Catalytic (By similarity).|TRAF-binding (By similarity). cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) AGTGTGTGCGCGGCTCGCTGG 0.667 RYR3 6263 broad.mit.edu 37 15 33954617 33954617 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:33954617A>G uc001zhi.2 + 35 4956 c.4886A>G c.(4885-4887)TAC>TGC p.Y1629C RYR3_uc010bar.2_Missense_Mutation_p.Y1629C NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1629 4 X approximate repeats.|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) AAGAACGAGTACATCATCCCC 0.562 RYR3 6263 broad.mit.edu 37 15 34042195 34042195 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:34042195G>A uc001zhi.2 + 56 8285 c.8215G>A c.(8215-8217)GTG>ATG p.V2739M RYR3_uc010bar.2_Missense_Mutation_p.V2739M NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2739 4.|Cytoplasmic (By similarity).|4 X approximate repeats. 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) GGTGGAGGTCGTGGCTGAGAA 0.507 CHRM5 1133 broad.mit.edu 37 15 34355445 34355445 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:34355445G>A uc001zhk.1 + 3 1197 c.527G>A c.(526-528)CGG>CAG p.R176Q CHRM5_uc001zhl.1_Missense_Mutation_p.R176Q NM_012125 NP_036257 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 176 Extracellular (By similarity). cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|central_nervous_system(1) 2 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) GTTGGGAAGCGGACAGTTCCA 0.542 FSIP1 161835 broad.mit.edu 37 15 40034091 40034091 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:40034091A>G uc001zki.2 - 6 788 c.570T>C c.(568-570)CAT>CAC p.H190H NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 190 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) CTTCCTCCTCATGAGAAGGAC 0.299 BAHD1 22893 broad.mit.edu 37 15 40750842 40750842 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:40750842G>A uc001zlu.2 + 2 250 c.179G>A c.(178-180)CGC>CAC p.R60H BAHD1_uc001zlt.2_Missense_Mutation_p.R60H|BAHD1_uc010bbp.1_Missense_Mutation_p.R60H|BAHD1_uc001zlv.2_Missense_Mutation_p.R60H NM_014952 NP_055767 Q8TBE0 BAHD1_HUMAN bromo adjacent homology domain containing 1 60 heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin silencing complex|chromosome chromatin binding|DNA binding|protein binding 0 all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08) CTTCGTAAGCGCCCATTGGTT 0.617 TYRO3 7301 broad.mit.edu 37 15 41860557 41860557 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:41860557C>A uc001zof.1 + 8 1328 c.1104C>A c.(1102-1104)ACC>ACA p.T368T NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 368 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) ACAATGGAACCCAGGTAAGAC 0.517 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42139947 42139947 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:42139947C>T uc010bco.2 + 20 2336 c.2235C>T c.(2233-2235)GAC>GAT p.D745D JMJD7-PLA2G4B_uc001zoo.3_Silent_p.D976D|JMJD7-PLA2G4B_uc010bcn.2_3'UTR|JMJD7-PLA2G4B_uc001zoq.3_Silent_p.D446D NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB 745 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 GCCAGGAGGACGTGGACAAGC 0.632 CDAN1 146059 broad.mit.edu 37 15 43026452 43026452 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:43026452C>T uc001zql.2 - 7 1346 c.1229G>A c.(1228-1230)CGA>CAA p.R410Q CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_Intron NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 410 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) ATAGGCAGCTCGAAGGCGGCC 0.557 TGM5 9333 broad.mit.edu 37 15 43527731 43527731 + Silent SNP G G A rs143745718 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:43527731G>A uc001zrd.1 - 10 1658 c.1650C>T c.(1648-1650)CAC>CAT p.H550H TGM5_uc001zrc.1_Silent_p.H207H|TGM5_uc001zre.1_Silent_p.H468H NM_201631 NP_963925 O43548 TGM5_HUMAN transglutaminase 5 isoform 1 550 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1) 1 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;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GGCTGCCATCGTGCAGCAGAG 0.542 CATSPER2 117155 broad.mit.edu 37 15 43931885 43931885 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:43931885G>A uc001zsh.2 - 6 888 c.673C>T c.(673-675)CGT>TGT p.R225C CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.R225C|CATSPER2_uc001zsj.2_Missense_Mutation_p.R225C|CATSPER2_uc001zsk.2_3'UTR NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 225 Helical; Name=Segment S4; (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 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) TGAATTTGACGGAATTGTGCA 0.493 FBN1 2200 broad.mit.edu 37 15 48760294 48760294 + Missense_Mutation SNP G G A rs111401431 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:48760294G>A uc001zwx.1 - 38 4916 c.4588C>T c.(4588-4590)CGC>TGC p.R1530C FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1530 R -> C (in EL). 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) TTTCCAGAGCGGGTATCTATT 0.418 SECISBP2L 9728 broad.mit.edu 37 15 49284489 49284489 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:49284489C>T uc001zxe.1 - 18 3392 c.3258G>A c.(3256-3258)TCG>TCA p.S1086S SECISBP2L_uc001zxd.1_Silent_p.S1041S NM_014701 NP_055516 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 1086 breast(1)|skin(1) 2 CTTTGTTGAGCGAGCTGCAGT 0.547 ATP8B4 79895 broad.mit.edu 37 15 50264869 50264870 + Missense_Mutation DNP GC GC TT TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:50264869_50264870GC>TT uc001zxu.2 - 13 1294_1295 c.1152_1153GC>AA c.(1150-1155)GGGCAG>GGAAAG p.Q385K ATP8B4_uc010ber.2_Missense_Mutation_p.Q258K|ATP8B4_uc010ufd.1_Missense_Mutation_p.Q258K|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 385 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 skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TACTCAATCTGCCCCAGTTCCT 0.416 GLDN 342035 broad.mit.edu 37 15 51696612 51696612 + Silent SNP G G A rs149359078 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:51696612G>A uc002aba.2 + 10 1486 c.1317G>A c.(1315-1317)GCG>GCA p.A439A GLDN_uc002abb.2_Silent_p.A315A NM_181789 NP_861454 Q6ZMI3 GLDN_HUMAN gliomedin 439 Extracellular (Potential).|Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane ovary(2) 2 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TTATCTATGCGTCAAGTGTGG 0.418 KIAA1370 56204 broad.mit.edu 37 15 52903829 52903829 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:52903829G>A uc002acg.3 - 4 500 c.347C>T c.(346-348)GCG>GTG p.A116V KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.A28V|KIAA1370_uc010ugf.1_Missense_Mutation_p.A123V NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 116 0 all cancers(107;0.0803) TTGCTTAATCGCAGGATCATT 0.413 CCPG1 9236 broad.mit.edu 37 15 55664165 55664165 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:55664165G>A uc002acv.1 - 6 697 c.532C>T c.(532-534)CGC>TGC p.R178C CCPG1_uc002acy.2_Missense_Mutation_p.R178C|CCPG1_uc002acu.1_Missense_Mutation_p.R34C|CCPG1_uc002acw.1_Translation_Start_Site|CCPG1_uc002acx.2_Missense_Mutation_p.R178C|CCPG1_uc010bfk.1_Missense_Mutation_p.R178C|CCPG1_uc002acz.1_Missense_Mutation_p.R178C NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 178 Cytoplasmic (Potential).|Poly-Arg.|Interaction with MCF2L and SRC (By similarity). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) CTAGCACGGCGTCGTCTAAAG 0.423 TCF12 6938 broad.mit.edu 37 15 57565390 57565390 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:57565390A>C uc002aec.2 + 18 2120 c.1836A>C c.(1834-1836)AAA>AAC p.K612N TCF12_uc010ugm.1_Missense_Mutation_p.K664N|TCF12_uc010ugn.1_Missense_Mutation_p.K632N|TCF12_uc002aea.2_Missense_Mutation_p.K636N|TCF12_uc010bfs.2_Missense_Mutation_p.K33N|TCF12_uc002aeb.2_Missense_Mutation_p.K636N|TCF12_uc002aed.2_Missense_Mutation_p.K612N|TCF12_uc002aee.2_Missense_Mutation_p.K442N|TCF12_uc010bft.2_Missense_Mutation_p.K466N|TCF12_uc010ugo.1_Missense_Mutation_p.K376N|TCF12_uc010ugp.1_Missense_Mutation_p.K269N|TCF12_uc010ugq.1_Missense_Mutation_p.K246N|TCF12_uc010ugr.1_Missense_Mutation_p.K225N NM_207038 NP_996921 Q99081 HTF4_HUMAN transcription factor 12 isoform b 612 Helix-loop-helix motif. immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(2)|lung(1) 8 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) AGAGTGAAAAACCCCAAACAA 0.453 T TEC extraskeletal myxoid chondrosarcoma CGNL1 84952 broad.mit.edu 37 15 57730401 57730401 + Silent SNP G G A rs143019005 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:57730401G>A uc002aeg.2 + 2 280 c.204G>A c.(202-204)TCG>TCA p.S68S CGNL1_uc010bfw.2_Silent_p.S68S NM_032866 NP_116255 Q0VF96 CGNL1_HUMAN cingulin-like 1 68 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) CAGGCACATCGTTTTCTGAAA 0.493 LIPC 3990 broad.mit.edu 37 15 58840557 58840557 + Silent SNP C C T rs146299102 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:58840557C>T uc010bga.1 + 8 1445 c.837C>T c.(835-837)CAC>CAT p.H279H LIPC_uc010bfz.1_Silent_p.H279H|LIPC_uc002afa.1_Silent_p.H279H|LIPC_uc010bgb.1_Silent_p.H177H|LIPC_uc010ugy.1_Silent_p.H218H NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 279 Charge relay system (By similarity). cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) AATGCTCCCACGAGCGATCGG 0.567 FAM63B 54629 broad.mit.edu 37 15 59063818 59063818 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:59063818T>C uc002afj.2 + 1 426 c.224T>C c.(223-225)GTT>GCT p.V75A FAM63B_uc002afi.2_Missense_Mutation_p.V75A|FAM63B_uc002afk.2_RNA|FAM63B_uc002afl.2_RNA NM_001040450 NP_001035540 Q8NBR6 FA63B_HUMAN hypothetical protein LOC54629 isoform a 75 central_nervous_system(1) 1 TCTCCTGAGGTTCCCGGACCC 0.701 SLTM 79811 broad.mit.edu 37 15 59181683 59181683 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:59181683C>T uc002afp.2 - 16 2238 c.2150G>A c.(2149-2151)CGT>CAT p.R717H SLTM_uc002afn.2_Missense_Mutation_p.R259H|SLTM_uc002afo.2_Missense_Mutation_p.R699H|SLTM_uc002afq.2_Missense_Mutation_p.R286H|SLTM_uc010bgd.2_Missense_Mutation_p.R286H NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 717 Arg/Glu-rich.|Potential. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 TTGTTCATAACGAAGCTGCTG 0.408 RORA 6095 broad.mit.edu 37 15 60792113 60792113 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:60792113C>T uc002agv.2 - 11 1640 c.1484G>A c.(1483-1485)CGA>CAA p.R495Q uc002ags.1_Intron|RORA_uc002agt.3_Missense_Mutation_p.R407Q|RORA_uc002agw.2_Missense_Mutation_p.R487Q|RORA_uc002agx.2_Missense_Mutation_p.R462Q NM_134260 NP_599022 P35398 RORA_HUMAN RAR-related orphan receptor A isoform b 495 Ligand-binding. 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 TCCATCTTCTCGGTGATTCTT 0.423 VPS13C 54832 broad.mit.edu 37 15 62274697 62274697 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:62274697A>C uc002agz.2 - 21 2064 c.1990T>G c.(1990-1992)TTG>GTG p.L664V VPS13C_uc002aha.2_Missense_Mutation_p.L621V|VPS13C_uc002ahb.1_Missense_Mutation_p.L664V|VPS13C_uc002ahc.1_Missense_Mutation_p.L621V NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 664 protein localization ovary(2) 2 AGCTTCATCAATGTTGCTGAT 0.323 TLN2 83660 broad.mit.edu 37 15 63073397 63073397 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:63073397T>C uc002alb.3 + 41 5573 c.5573T>C c.(5572-5574)GTG>GCG p.V1858A TLN2_uc002alc.3_Missense_Mutation_p.V251A|TLN2_uc002ald.2_Missense_Mutation_p.V251A NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1858 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 CAGACGACTGTGGTTAAATAC 0.488 SNX1 6642 broad.mit.edu 37 15 64411006 64411006 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:64411006A>G uc002amv.2 + 4 455 c.419A>G c.(418-420)GAG>GGG p.E140G SNX1_uc010bgv.2_Intron|SNX1_uc010uio.1_Missense_Mutation_p.E140G|SNX1_uc002amw.2_Missense_Mutation_p.E140G|SNX1_uc002amx.2_Intron|SNX1_uc002amy.2_Missense_Mutation_p.E69G|SNX1_uc010bgw.2_Missense_Mutation_p.E42G NM_003099 NP_003090 Q13596 SNX1_HUMAN sorting nexin 1 isoform a 140 cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport early endosome membrane|Golgi apparatus phosphatidylinositol binding|protein binding|protein transporter activity 0 GAAGAACAGGAGGATCAATTT 0.363 CT62 196993 broad.mit.edu 37 15 71403497 71403497 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:71403497C>T uc002ata.2 - 4 917 c.404G>A c.(403-405)AGG>AAG p.R135K NM_001102658 NP_001096128 P0C5K7 CT62_HUMAN cancer/testis antigen 62 135 0 TTCCTATCTCCTCTGACCAGA 0.433 C15orf60 283677 broad.mit.edu 37 15 73852106 73852106 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:73852106C>T uc002avq.2 + 6 678 c.650C>T c.(649-651)TCG>TTG p.S217L C15orf60_uc010bjb.2_Missense_Mutation_p.S189L NM_001042367 NP_001035826 Q7Z4M0 CO060_HUMAN hypothetical protein LOC283677 217 pancreas(1) 1 CTTCTGGCATCGGAGGAGCTG 0.458 NPTN 27020 broad.mit.edu 37 15 73889393 73889393 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:73889393G>A uc002avs.2 - 2 606 c.409C>T c.(409-411)CGA>TGA p.R137* NPTN_uc010bjc.2_Nonsense_Mutation_p.R137*|NPTN_uc002avt.2_Intron|NPTN_uc002avr.2_Intron|NPTN_uc010ula.1_Intron NM_012428 NP_036560 Q9Y639 NPTN_HUMAN neuroplastin isoform b precursor 137 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 GCCTGGGCTCGAATCCATGTT 0.547 PML 5371 broad.mit.edu 37 15 74290799 74290799 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:74290799G>A uc002awv.2 + 2 724 c.584G>A c.(583-585)CGC>CAC p.R195H PML_uc002awm.2_Missense_Mutation_p.R195H|PML_uc002awl.2_Missense_Mutation_p.R195H|PML_uc002awj.1_Missense_Mutation_p.R195H|PML_uc002awk.2_Missense_Mutation_p.R195H|PML_uc002awn.2_Missense_Mutation_p.R195H|PML_uc002awo.2_Missense_Mutation_p.R195H|PML_uc002awp.2_Missense_Mutation_p.R195H|PML_uc002awq.2_Missense_Mutation_p.R195H|PML_uc002awr.2_Missense_Mutation_p.R195H|PML_uc002aws.2_Missense_Mutation_p.R195H|PML_uc002awt.2_Missense_Mutation_p.R195H|PML_uc002awu.2_Missense_Mutation_p.R195H|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.R110H NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 195 B box-type 2. 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 CCCAACCACCGCACCCCTACG 0.622 T RARA|PAX5 APL|ALL PML 5371 broad.mit.edu 37 15 74315437 74315437 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:74315437C>T uc002awv.2 + 3 1011 c.871C>T c.(871-873)CGG>TGG p.R291W PML_uc002awm.2_Missense_Mutation_p.R291W|PML_uc002awl.2_Missense_Mutation_p.R291W|PML_uc002awj.1_Missense_Mutation_p.R291W|PML_uc002awk.2_Missense_Mutation_p.R291W|PML_uc002awn.2_Missense_Mutation_p.R291W|PML_uc002awo.2_Missense_Mutation_p.R291W|PML_uc002awp.2_Missense_Mutation_p.R291W|PML_uc002awq.2_Missense_Mutation_p.R291W|PML_uc002awr.2_Missense_Mutation_p.R291W|PML_uc002aws.2_Missense_Mutation_p.R291W|PML_uc002awt.2_Missense_Mutation_p.R291W|PML_uc002awu.2_Missense_Mutation_p.R291W|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.R206W|PML_uc002awx.2_Missense_Mutation_p.R49W|PML_uc002awy.2_5'Flank NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 291 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 AGCTCACGTGCGGGCTCAGGA 0.721 T RARA|PAX5 APL|ALL ISLR2 57611 broad.mit.edu 37 15 74425314 74425314 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:74425314C>T uc002axd.2 + 4 988 c.219C>T c.(217-219)GAC>GAT p.D73D ISLR2_uc002axe.2_Silent_p.D73D|ISLR2_uc010bjg.2_Silent_p.D73D|ISLR2_uc010bjf.2_Silent_p.D73D NM_001130136 NP_001123608 Q6UXK2 ISLR2_HUMAN immunoglobulin superfamily containing 73 LRR 1.|Extracellular (Potential). positive regulation of axon extension cell surface|integral to membrane|plasma membrane 0 CCTTCGCCGACGTCACACAGG 0.632 SIN3A 25942 broad.mit.edu 37 15 75676745 75676745 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:75676745G>A uc002bai.2 - 17 3314 c.3055C>T c.(3055-3057)CAG>TAG p.Q1019* SIN3A_uc002baj.2_Nonsense_Mutation_p.Q1019*|SIN3A_uc010uml.1_Nonsense_Mutation_p.Q1019* NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 1019 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 TCAGTCACCTGCACACAGATC 0.473 LINGO1 84894 broad.mit.edu 37 15 77906695 77906695 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:77906695C>T uc002bct.1 - 2 1606 c.1554G>A c.(1552-1554)TCG>TCA p.S518S LINGO1_uc002bcu.1_Silent_p.S512S NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 518 Extracellular (Potential). negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 GCCAGTCGGGCGAGTAGCTGC 0.662 LINGO1 84894 broad.mit.edu 37 15 77907658 77907658 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:77907658C>T uc002bct.1 - 2 643 c.591G>A c.(589-591)ACG>ACA p.T197T LINGO1_uc002bcu.1_Silent_p.T191T NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 197 Extracellular (Potential).|LRR 6. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 ATTTCTCCAGCGTCAGCTGCT 0.602 IREB2 3658 broad.mit.edu 37 15 78777250 78777250 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:78777250A>G uc002bdr.2 + 12 1723 c.1561A>G c.(1561-1563)ATG>GTG p.M521V IREB2_uc010unb.1_Missense_Mutation_p.M271V NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 521 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TCCATCTGTCATGCTTGCTGC 0.373 IREB2 3658 broad.mit.edu 37 15 78790472 78790472 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:78790472G>A uc002bdr.2 + 22 3041 c.2879G>A c.(2878-2880)CGA>CAA p.R960Q IREB2_uc010unb.1_Missense_Mutation_p.R710Q NM_004136 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 960 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding 0 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) TTTGTGGCACGAAAATTCTCA 0.388 CTSH 1512 broad.mit.edu 37 15 79215386 79215386 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:79215386A>G uc002ben.2 - 12 942 c.845T>C c.(844-846)ATC>ACC p.I282T CTSH_uc010unf.1_RNA|CTSH_uc010bll.1_Missense_Mutation_p.I134T NM_148979 NP_683880 P09668 CATH_HUMAN cathepsin H isoform b precursor 294 protein destabilization|proteolysis lysosome cysteine-type endopeptidase activity central_nervous_system(2)|large_intestine(1) 3 CCAGTAAGGGATCCCATTTTT 0.483 RASGRF1 5923 broad.mit.edu 37 15 79339155 79339155 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:79339155G>A uc002beq.2 - 5 1186 c.811C>T c.(811-813)CGG>TGG p.R271W RASGRF1_uc002bep.2_Missense_Mutation_p.R271W|RASGRF1_uc010blm.1_Missense_Mutation_p.R193W|RASGRF1_uc002ber.3_Missense_Mutation_p.R271W NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 271 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 GCGGCCATCCGCAGCGGGCGC 0.587 KIAA1199 57214 broad.mit.edu 37 15 81241173 81241173 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:81241173C>T uc002bfw.1 + 29 4254 c.3994C>T c.(3994-3996)CGG>TGG p.R1332W KIAA1199_uc010unn.1_Missense_Mutation_p.R1332W|MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 1332 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 AGGCAGCTTCCGGCCCATCTG 0.522 IL16 3603 broad.mit.edu 37 15 81585075 81585075 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:81585075G>A uc002bgh.3 + 12 1975 c.1599G>A c.(1597-1599)CCG>CCA p.P533P IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Silent_p.P533P|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.P575P|IL16_uc002bgg.2_Silent_p.P533P|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Silent_p.P27P|IL16_uc002bgk.2_5'Flank NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 533 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 CTGAGAAGCCGTCCTCTGACG 0.617 IL16 3603 broad.mit.edu 37 15 81585364 81585364 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:81585364C>A uc002bgh.3 + 12 2264 c.1888C>A c.(1888-1890)CCC>ACC p.P630T IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Intron|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.P672T|IL16_uc002bgg.2_Missense_Mutation_p.P630T|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Missense_Mutation_p.P124T|IL16_uc002bgk.2_5'Flank NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 630 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 GCACACCCCACCCACCTGTGG 0.507 WHAMM 123720 broad.mit.edu 37 15 83499704 83499704 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:83499704C>A uc002bje.2 + 9 2501 c.1995C>A c.(1993-1995)TCC>TCA p.S665S NM_001080435 NP_001073904 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi 665 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding 0 TGTCCTCATCCTCTCAAGCTG 0.398 HOMER2 9455 broad.mit.edu 37 15 83523521 83523521 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:83523521G>A uc002bjg.2 - 6 745 c.559C>T c.(559-561)CTG>TTG p.L187L HOMER2_uc002bjh.2_Silent_p.L176L|HOMER2_uc002bjj.2_Intron|HOMER2_uc002bji.2_Intron NM_199330 NP_955362 Q9NSB8 HOME2_HUMAN homer 2 isoform 2 187 Potential. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane 0 AGGGTCTGCAGCTCGATCTCC 0.652 ADAMTSL3 57188 broad.mit.edu 37 15 84506931 84506931 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:84506931C>T uc002bjz.3 + 7 915 c.691C>T c.(691-693)CGG>TGG p.R231W ADAMTSL3_uc002bjy.1_Missense_Mutation_p.R231W|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R231W|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R231W NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 231 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) CAGGCTTGTACGGGGACAATC 0.478 ACAN 176 broad.mit.edu 37 15 89391193 89391193 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:89391193C>T uc010upo.1 + 9 2030 c.1656C>T c.(1654-1656)AGC>AGT p.S552S ACAN_uc002bmx.2_Silent_p.S552S|ACAN_uc010upp.1_Silent_p.S552S|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 552 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) AGGACAGCAGCCCAGGGGTCA 0.567 FES 2242 broad.mit.edu 37 15 91428691 91428691 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:91428691G>A uc002bpv.2 + 3 359 c.263G>A c.(262-264)CGG>CAG p.R88Q FES_uc010uqj.1_Intron|FES_uc010uqk.1_Intron|FES_uc002bpw.2_RNA|FES_uc010bny.2_Intron|FES_uc002bpx.2_Missense_Mutation_p.R88Q|FES_uc002bpy.2_Intron NM_002005 NP_001996 P07332 FES_HUMAN feline sarcoma oncogene isoform 1 88 Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) CGCTTGCTGCGGCAGCACGCA 0.632 ALDH1A3 220 broad.mit.edu 37 15 101434257 101434257 + Silent SNP C C T rs149815923 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:101434257C>T uc002bwn.3 + 6 740 c.636C>T c.(634-636)ACC>ACT p.T212T ALDH1A3_uc010bpb.2_Intron|uc002bwo.1_RNA NM_000693 NP_000684 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1A3 212 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) CACCTCTCACCGCCCTTTATC 0.542 RAB40C 57799 broad.mit.edu 37 16 677598 677598 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:677598G>A uc002chr.2 + 6 938 c.822G>A c.(820-822)TCG>TCA p.S274S RAB40C_uc002chq.2_Silent_p.S255S|WFIKKN1_uc002chs.1_5'Flank NM_021168 NP_066991 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 274 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Hepatocellular(780;0.0218) AGAACTGCTCGCGGAGTAACT 0.692 MAPK8IP3 23162 broad.mit.edu 37 16 1818599 1818599 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:1818599C>T uc002cmk.2 + 31 3981 c.3861C>T c.(3859-3861)GGC>GGT p.G1287G MAPK8IP3_uc002cml.2_Silent_p.G1281G|MAPK8IP3_uc010uvl.1_Silent_p.G1288G NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 1287 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 TGCTGAGCGGCGGGGAGGGCT 0.706 HAGH 3029 broad.mit.edu 37 16 1869196 1869196 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:1869196G>A uc002cna.2 - 5 868 c.461C>T c.(460-462)GCG>GTG p.A154V HAGH_uc002cmz.2_Missense_Mutation_p.A106V|HAGH_uc010uvp.1_Intron|HAGH_uc002cnb.1_Missense_Mutation_p.A106V|HAGH_uc010bry.1_Missense_Mutation_p.A154V NM_005326 NP_005317 Q16775 GLO2_HUMAN hydroxyacylglutathione hydrolase isoform 1 154 glutathione biosynthetic process cytoplasm|mitochondrial matrix|mitochondrial matrix hydroxyacylglutathione hydrolase activity|zinc ion binding ovary(1) 1 Hepatocellular(780;0.00335) Glutathione(DB00143) GCACGGGGTCGCCAGGCACTT 0.637 SRRM2 23524 broad.mit.edu 37 16 2815810 2815810 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:2815810C>T uc002crk.2 + 11 5830 c.5281C>T c.(5281-5283)CGC>TGC p.R1761C SRRM2_uc002crj.1_Missense_Mutation_p.R1665C|SRRM2_uc002crl.1_Missense_Mutation_p.R1761C|SRRM2_uc010bsu.1_Missense_Mutation_p.R1665C NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1761 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 AAGGAGAGGCCGCTCTCCTTC 0.577 CREBBP 1387 broad.mit.edu 37 16 3781927 3781927 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:3781927G>A uc002cvv.2 - 29 4944 c.4740C>T c.(4738-4740)GGC>GGT p.G1580G CREBBP_uc002cvw.2_Silent_p.G1542G NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1580 Interaction with TRERF1. 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) tcttgctgtcgCCCTGACTGC 0.388 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 4164580 4164580 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:4164580G>A uc002cvx.2 - 2 1403 c.864C>T c.(862-864)CAC>CAT p.H288H NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 288 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|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 GGATGCAGCCGTGGAGCAGCC 0.632 TFAP4 7023 broad.mit.edu 37 16 4311899 4311899 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:4311899C>T uc010uxg.1 - 4 660 c.406G>A c.(406-408)GGC>AGC p.G136S NM_003223 NP_003214 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer 136 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 GAGCCTATGCCTTCGTCCTTG 0.672 OREG0023575 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) C16orf5 29965 broad.mit.edu 37 16 4563767 4563767 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:4563767C>T uc002cwu.2 - 3 466 c.171G>A c.(169-171)CCG>CCA p.P57P C16orf5_uc002cwv.2_Silent_p.P57P|C16orf5_uc002cww.2_Silent_p.P57P|C16orf5_uc010uxl.1_Silent_p.P57P|C16orf5_uc010uxm.1_Intron|C16orf5_uc010btu.2_RNA NM_013399 NP_037531 Q9H305 LITFL_HUMAN cell death inducing protein 57 Pro-rich. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|tumor necrosis factor-mediated signaling pathway nucleus ovary(1) 1 Ovarian(90;0.17) TTGGGTGACCCGGCGGCTCAT 0.652 SEC14L5 9717 broad.mit.edu 37 16 5038280 5038280 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:5038280C>T uc002cye.2 + 4 524 c.344C>T c.(343-345)ACG>ATG p.T115M NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 115 PRELI/MSF1. integral to membrane|intracellular transporter activity 0 TGCAGCTACACGGTGAGCCCA 0.637 USP7 7874 broad.mit.edu 37 16 9014266 9014266 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:9014266G>A uc002czl.2 - 5 760 c.561C>T c.(559-561)GAC>GAT p.D187D USP7_uc010uyk.1_Silent_p.D88D|USP7_uc010uyj.1_Silent_p.D88D|USP7_uc002czk.2_Silent_p.D171D|USP7_uc010uyl.1_RNA NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 187 Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.|Interaction with TSPYL5. 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 AGGTAACTTTGTCATCATCTA 0.373 C16orf63 123811 broad.mit.edu 37 16 15977964 15977964 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:15977964G>A uc002dec.1 - 2 132 c.127C>T c.(127-129)CGA>TGA p.R43* C16orf63_uc002ded.1_Nonsense_Mutation_p.R43* NM_144600 NP_653201 Q96NB1 FOPNL_HUMAN hypothetical protein LOC123811 43 Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites. cilium assembly|microtubule anchoring centriolar satellite|microtubule basal body|motile cilium identical protein binding 0 AATGATGGTCGGGGTTCACGG 0.378 ABCC1 4363 broad.mit.edu 37 16 16205288 16205288 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:16205288C>A uc010bvi.2 + 22 3103 c.2928C>A c.(2926-2928)TTC>TTA p.F976L ABCC1_uc010bvj.2_Missense_Mutation_p.F917L|ABCC1_uc010bvk.2_Missense_Mutation_p.F920L|ABCC1_uc010bvl.2_Missense_Mutation_p.F976L|ABCC1_uc010bvm.2_Missense_Mutation_p.F861L|ABCC1_uc002del.3_Missense_Mutation_p.F870L NM_004996 NP_004987 P33527 MRP1_HUMAN ATP-binding cassette, sub-family C, member 1 976 Helical; Name=12.|ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4) 4 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) TCATCTCCTTCCTCAGCATCT 0.522 GPRC5B 51704 broad.mit.edu 37 16 19883588 19883588 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:19883588C>T uc002dgt.2 - 2 688 c.580G>A c.(580-582)GCC>ACC p.A194T GPRC5B_uc010vav.1_Missense_Mutation_p.A220T NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 194 Extracellular (Potential). lung(1)|breast(1)|skin(1) 3 GGCTCGTAGGCGCAGGCTGGC 0.612 OTOA 146183 broad.mit.edu 37 16 21709120 21709120 + Missense_Mutation SNP C C T rs149668552 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:21709120C>T uc002djh.2 + 9 765 c.764C>T c.(763-765)GCG>GTG p.A255V uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.A176V NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 255 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) TGGGTCAGTGCGGAACACTTA 0.303 PDZD9 255762 broad.mit.edu 37 16 22000062 22000062 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:22000062G>A uc002dka.1 - 4 393 c.76C>T c.(76-78)CGA>TGA p.R26* NM_173806 NP_776167 Q8IXQ8 PDZD9_HUMAN hypothetical protein LOC255762 88 PDZ. pancreas(1) 1 AAAAATTCTCGAAGAGTATAT 0.353 HS3ST2 9956 broad.mit.edu 37 16 22926592 22926592 + Silent SNP C C T rs144169281 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 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 23102071 23102071 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:23102071C>T uc002dll.2 - 7 1289 c.1289G>A c.(1288-1290)AGA>AAA p.R430K NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 430 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) AGAAGACAGTCTATGATAATC 0.378 RBBP6 5930 broad.mit.edu 37 16 24580275 24580275 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:24580275G>A uc002dmh.2 + 17 3304 c.2264G>A c.(2263-2265)CGA>CAA p.R755Q RBBP6_uc010vcb.1_Missense_Mutation_p.R622Q|RBBP6_uc002dmi.2_Missense_Mutation_p.R721Q|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.R588Q NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 755 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) GGATATCATCGATCTAGGTCA 0.478 GTF3C1 2975 broad.mit.edu 37 16 27481681 27481681 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:27481681G>A uc002dov.1 - 31 4602 c.4562C>T c.(4561-4563)ACG>ATG p.T1521M GTF3C1_uc002dou.2_Missense_Mutation_p.T1521M NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1521 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 GAATGACTCCGTGCAGATGGT 0.502 GTF3C1 2975 broad.mit.edu 37 16 27503681 27503681 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:27503681G>A uc002dov.1 - 19 3169 c.3129C>T c.(3127-3129)TGC>TGT p.C1043C GTF3C1_uc002dou.2_Silent_p.C1043C NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1043 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 TGAGGCAGACGCACTGCAGGT 0.552 ATXN2L 11273 broad.mit.edu 37 16 28846877 28846877 + Missense_Mutation SNP C C T rs137943525 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:28846877C>T uc002drc.2 + 21 2861 c.2693C>T c.(2692-2694)GCG>GTG p.A898V uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.A898V|ATXN2L_uc002dqy.2_Missense_Mutation_p.A898V|ATXN2L_uc002dra.2_Missense_Mutation_p.A898V|ATXN2L_uc002dqz.2_Missense_Mutation_p.A898V|ATXN2L_uc010vdb.1_Missense_Mutation_p.A904V|ATXN2L_uc002dre.2_Missense_Mutation_p.A898V|ATXN2L_uc002drf.2_Missense_Mutation_p.A307V|ATXN2L_uc002drg.2_Missense_Mutation_p.A181V NM_007245 NP_009176 Q8WWM7 ATX2L_HUMAN ataxin 2 related protein isoform A 898 membrane upper_aerodigestive_tract(1)|ovary(1) 2 CAGCATCAGGCGGGGCAGGCC 0.652 PHKG2 5261 broad.mit.edu 37 16 30768336 30768336 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:30768336G>T uc002dzk.1 + 10 1232 c.1139G>T c.(1138-1140)GGG>GTG p.G380V PHKG2_uc002dzi.1_Missense_Mutation_p.G384V|PHKG2_uc002dzj.1_Missense_Mutation_p.G278V NM_000294 NP_000285 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 380 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1) 1 Colorectal(24;0.198) CGGCCCCCTGGGCCTTTTCCC 0.612 ITGAM 3684 broad.mit.edu 37 16 31288261 31288261 + Silent SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:31288261T>G uc002ebq.2 + 11 1202 c.1104T>G c.(1102-1104)ACT>ACG p.T368T ITGAM_uc002ebr.2_Silent_p.T368T|ITGAM_uc010cam.1_Silent_p.T19T NM_000632 NP_000623 P11215 ITAM_HUMAN integrin alpha M isoform 2 precursor 368 FG-GAP 3.|Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity kidney(1) 1 TGCTGAGCACTGTGGGGAGCT 0.493 DNAJA2 10294 broad.mit.edu 37 16 46991017 46991017 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:46991017C>T uc002eeo.2 - 9 1305 c.1163G>A c.(1162-1164)CGT>CAT p.R388H DNAJA2_uc002eep.2_Missense_Mutation_p.R305H NM_005880 NP_005871 O60884 DNJA2_HUMAN DnaJ subfamily A member 2 388 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding lung(1) 1 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) ATAGGCTTCACGCCTCTGACC 0.483 ABCC12 94160 broad.mit.edu 37 16 48149395 48149395 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:48149395G>A uc002efc.1 - 13 2266 c.1920C>T c.(1918-1920)CAC>CAT p.H640H 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 640 ABC transporter 1. 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) CCTCAAAGACGTGCTTCCCCA 0.612 ABCC12 94160 broad.mit.edu 37 16 48180286 48180286 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:48180286C>T uc002efc.1 - 1 396 c.50G>A c.(49-51)CGG>CAG p.R17Q 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.R17Q|ABCC12_uc010vgj.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 17 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) GGATCTCCGCCGGCCTCGCTG 0.577 SIAH1 6477 broad.mit.edu 37 16 48395676 48395676 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:48395676C>T uc002efo.1 - 2 781 c.664G>A c.(664-666)GCT>ACT p.A222T uc002efk.1_RNA|SIAH1_uc002efl.2_RNA|SIAH1_uc002efn.1_Missense_Mutation_p.A253T NM_003031 NP_003022 Q8IUQ4 SIAH1_HUMAN seven in absentia homolog 1 isoform a 222 SBD. axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) AGTCGGTAAGCAAAATTTTCA 0.433 C16orf78 123970 broad.mit.edu 37 16 49430514 49430514 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:49430514G>T uc002efr.2 + 4 618 c.575G>T c.(574-576)AGC>ATC p.S192I NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN hypothetical protein LOC123970 192 central_nervous_system(1) 1 AAGCTAAAGAGCCTCATGGAG 0.537 ZNF423 23090 broad.mit.edu 37 16 49672706 49672706 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:49672706G>A uc002efs.2 - 5 655 c.357C>T c.(355-357)ATC>ATT p.I119I ZNF423_uc010vgn.1_Silent_p.I2I NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 119 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) AACCATCTCCGATCATCTGCG 0.602 SNX20 124460 broad.mit.edu 37 16 50707432 50707432 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:50707432G>A uc002egk.2 - 4 1009 c.836C>T c.(835-837)GCG>GTG p.A279V SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron NM_182854 NP_878274 Q7Z614 SNX20_HUMAN sorting nexin 20 isoform 1 279 cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding ovary(1) 1 CTTGCCCAGCGCGTAGGCCAG 0.697 SNX20 124460 broad.mit.edu 37 16 50707935 50707935 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:50707935G>A uc002egk.2 - 4 506 c.333C>T c.(331-333)GCC>GCT p.A111A SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron NM_182854 NP_878274 Q7Z614 SNX20_HUMAN sorting nexin 20 isoform 1 111 PX. cell communication|protein transport endosome membrane|nucleus|plasma membrane phosphatidylinositol binding|protein binding ovary(1) 1 GTTCCAGGACGGCCTTGTTGT 0.597 IRX6 79190 broad.mit.edu 37 16 55362962 55362962 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:55362962G>A uc002ehy.2 + 5 1605 c.1072G>A c.(1072-1074)GCG>ACG p.A358T IRX6_uc002ehx.2_Missense_Mutation_p.A358T NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 358 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 GGCGCACACCGCGACAGCCAG 0.637 RSPRY1 89970 broad.mit.edu 37 16 57238591 57238591 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:57238591C>T uc002elb.2 + 2 299 c.21C>T c.(19-21)GCC>GCT p.A7A RSPRY1_uc002elc.2_Silent_p.A7A|RSPRY1_uc002eld.2_Silent_p.A7A|RSPRY1_uc002ele.1_Silent_p.A7A NM_133368 NP_588609 Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 7 extracellular region zinc ion binding ovary(1) 1 TTGGTTGGGCCGTGTTCTTAG 0.463 COQ9 57017 broad.mit.edu 37 16 57493505 57493505 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:57493505T>C uc002elq.2 + 7 756 c.740T>C c.(739-741)CTG>CCG p.L247P COQ9_uc002elr.2_Missense_Mutation_p.L212P|COQ9_uc002els.2_Missense_Mutation_p.L40P NM_020312 NP_064708 O75208 COQ9_HUMAN coenzyme Q9 homolog precursor 247 ubiquinone biosynthetic process mitochondrion breast(1) 1 CGAGCCATGCTGGCTGCCATC 0.537 CCDC135 84229 broad.mit.edu 37 16 57752348 57752348 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:57752348C>T uc002emi.2 + 8 1256 c.1167C>T c.(1165-1167)GAC>GAT p.D389D CCDC135_uc002emj.2_Silent_p.D389D|CCDC135_uc002emk.2_Silent_p.D324D NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 389 cytoplasm central_nervous_system(1) 1 CTGAAGAAGACGACAGTGGGA 0.517 ZNF319 57567 broad.mit.edu 37 16 58031734 58031734 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:58031734A>G uc002emx.1 - 2 1059 c.436T>C c.(436-438)TCA>CCA p.S146P NM_020807 NP_065858 Q9P2F9 ZN319_HUMAN zinc finger protein 319 146 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGTGCCAGTGAGGTGAGTAGT 0.602 CES2 8824 broad.mit.edu 37 16 66975483 66975483 + Silent SNP C C T rs61735428 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:66975483C>T uc002eqr.2 + 7 2182 c.1182C>T c.(1180-1182)GCC>GCT p.A394A CES2_uc002eqq.2_Silent_p.A394A|CES2_uc002eqs.2_Silent_p.A237A NM_003869 NP_003860 O00748 EST2_HUMAN carboxylesterase 2 isoform 1 330 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) TGGCCTCTGCCGACTTTCAGC 0.587 CES8 283848 broad.mit.edu 37 16 67034813 67034813 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:67034813C>T uc002eqv.2 + 4 499 c.456C>T c.(454-456)TAC>TAT p.Y152Y CES8_uc010vix.1_Silent_p.Y152Y|CES8_uc002eqw.2_Silent_p.Y152Y|CES8_uc002eqy.2_Silent_p.Y54Y|CES8_uc002eqx.2_Translation_Start_Site|CES8_uc010viy.1_Silent_p.Y54Y|CES8_uc010viz.1_Silent_p.Y54Y NM_173815 NP_776176 Q5XG92 EST4A_HUMAN carboxylesterase 8 (putative) 152 extracellular region carboxylesterase activity 0 CTTCTTCGTACGAGGGCTCTG 0.667 CES8 283848 broad.mit.edu 37 16 67035233 67035233 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:67035233G>T uc002eqv.2 + 5 602 c.559G>T c.(559-561)GGG>TGG p.G187W CES8_uc010vix.1_Missense_Mutation_p.G187W|CES8_uc002eqw.2_Missense_Mutation_p.G187W|CES8_uc002eqy.2_Missense_Mutation_p.G89W|CES8_uc002eqx.2_5'UTR|CES8_uc010viy.1_Missense_Mutation_p.G93W|CES8_uc010viz.1_Missense_Mutation_p.G89W NM_173815 NP_776176 Q5XG92 EST4A_HUMAN carboxylesterase 8 (putative) 187 extracellular region carboxylesterase activity 0 CCACGCGCGCGGGAACTGGGG 0.697 LRRC29 26231 broad.mit.edu 37 16 67241525 67241525 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:67241525G>T uc002esd.2 - 4 1552 c.655C>A c.(655-657)CTG>ATG p.L219M LRRC29_uc002ese.2_Missense_Mutation_p.L219M|LRRC29_uc002esf.2_Missense_Mutation_p.L219M|LRRC29_uc002esg.2_Missense_Mutation_p.L219M NM_012163 NP_036295 Q8WV35 LRC29_HUMAN F-box and leucine-rich repeat protein 9 219 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GTTAGGGTCAGGTCAGCCCCT 0.637 KCTD19 146212 broad.mit.edu 37 16 67323584 67323584 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:67323584A>C uc002esu.2 - 16 2720 c.2669T>G c.(2668-2670)CTT>CGT p.L890R KCTD19_uc002est.2_Missense_Mutation_p.L662R|KCTD19_uc010vjj.1_Missense_Mutation_p.L633R NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 890 voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906) GGGCAGTGTAAGCTGGAAGGA 0.552 RLTPR 146206 broad.mit.edu 37 16 67688258 67688258 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:67688258C>T uc002etn.2 + 31 3365 c.3245C>T c.(3244-3246)GCC>GTC p.A1082V RLTPR_uc010vjr.1_Missense_Mutation_p.A1046V NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 1082 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) GAGGACCCGGCCACTGAGGGG 0.662 RANBP10 57610 broad.mit.edu 37 16 67768880 67768880 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:67768880C>T uc002eud.2 - 6 773 c.657G>A c.(655-657)CAG>CAA p.Q219Q RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Silent_p.Q163Q|RANBP10_uc010vjv.1_Silent_p.Q102Q|RANBP10_uc010vjx.1_Silent_p.Q219Q|RANBP10_uc010vjy.1_Silent_p.Q87Q NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 219 B30.2/SPRY. ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) GGAAGGGCTGCTGCCCAAAGT 0.602 NRN1L 123904 broad.mit.edu 37 16 67918831 67918831 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:67918831T>C uc002euu.2 + 1 51 c.25T>C c.(25-27)TGC>CGC p.C9R EDC4_uc002eut.1_3'UTR NM_198443 NP_940845 Q496H8 NRN1L_HUMAN neuritin 1-like precursor 9 anchored to membrane|plasma membrane central_nervous_system(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119) CCGCCGCCGCTGCTGCTGCCG 0.721 DPEP2 64174 broad.mit.edu 37 16 68026858 68026858 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:68026858C>A uc010cey.2 - 1 422 c.258G>T c.(256-258)GTG>GTT p.V86V DPEP2_uc002evd.3_Silent_p.V86V|DPEP2_uc002eve.2_Silent_p.V86V|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_Silent_p.V86V NM_022355 NP_071750 Q9H4A9 DPEP2_HUMAN dipeptidase 2 precursor 86 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) CGCACCCGTCCACGAGCGGGA 0.662 TERF2 7014 broad.mit.edu 37 16 69391422 69391422 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:69391422T>C uc002exd.2 - 9 1468 c.1343A>G c.(1342-1344)CAG>CGG p.Q448R NM_005652 NP_005643 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 448 HTH myb-type. age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity lung(1) 1 Ovarian(137;0.101) TTAAATTACCTGCTTTTTTGT 0.393 WWP2 11060 broad.mit.edu 37 16 69965738 69965738 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:69965738C>T uc002exu.1 + 17 1716 c.1627C>T c.(1627-1629)CGG>TGG p.R543W WWP2_uc002exv.1_Missense_Mutation_p.R543W|WWP2_uc010vlm.1_Missense_Mutation_p.R427W|WWP2_uc010vln.1_Missense_Mutation_p.R161W|WWP2_uc002exw.1_Missense_Mutation_p.R104W|uc002exx.1_5'Flank|MIR140_hsa-mir-140|MI0000456_5'Flank NM_007014 NP_008945 O00308 WWP2_HUMAN WW domain containing E3 ubiquitin protein ligase 543 HECT. entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity lung(3)|ovary(1)|breast(1)|skin(1) 6 CCTGCGCCGCCGGCTCTACAT 0.647 AARS 16 broad.mit.edu 37 16 70293086 70293086 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:70293086G>T uc002eyn.1 - 14 1899 c.1789C>A c.(1789-1791)CGA>AGA p.R597R AARS_uc010vlu.1_Silent_p.R427R NM_001605 NP_001596 P49588 SYAC_HUMAN alanyl-tRNA synthetase 597 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding pancreas(1) 1 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) GGTCTTCGTCGGGGCTGGAAA 0.398 MARVELD3 91862 broad.mit.edu 37 16 71674501 71674501 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:71674501C>T uc002fau.2 + 3 867 c.804C>T c.(802-804)TAC>TAT p.Y268Y PHLPP2_uc002fav.2_RNA|MARVELD3_uc010cge.2_3'UTR NM_001017967 NP_001017967 Q96A59 MALD3_HUMAN MARVEL domain containing 3 isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment integral to membrane skin(1) 1 Ovarian(137;0.125) CCCTGATATACGGTGGCGTGG 0.567 ZFHX3 463 broad.mit.edu 37 16 72821094 72821094 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:72821094G>A uc002fck.2 - 10 11754 c.11081C>T c.(11080-11082)ACC>ATC p.T3694I uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Missense_Mutation_p.T2780I NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3694 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) TCCTACACTGGTCAGACCACT 0.463 ATMIN 23300 broad.mit.edu 37 16 81075980 81075980 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:81075980A>G uc002ffz.1 + 3 575 c.557A>G c.(556-558)GAC>GGC p.D186G ATMIN_uc002fga.2_Missense_Mutation_p.D28G|ATMIN_uc010vnn.1_Intron|ATMIN_uc002fgb.1_Missense_Mutation_p.D28G NM_015251 NP_056066 O43313 ATMIN_HUMAN ATM interactor 186 response to DNA damage stimulus nucleus zinc ion binding 0 CATGCAGAGGACTGTGGCAAG 0.498 CMIP 80790 broad.mit.edu 37 16 81735407 81735407 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:81735407T>C uc002fgp.2 + 16 1968 c.1896_splice c.e16+2 p.L632_splice CMIP_uc002fgq.1_Splice_Site_p.L538_splice|CMIP_uc010vnq.1_Splice_Site_p.L445_splice|CMIP_uc002fgr.1_Splice_Site_p.L479_splice NM_198390 NP_938204 Q8IY22 CMIP_HUMAN c-Maf-inducing protein isoform C-mip cytoplasm|nucleus 0 AAGGAGCTGGTGAGTCCCCGG 0.652 KLHL36 79786 broad.mit.edu 37 16 84690621 84690621 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:84690621T>C uc002fig.2 + 3 349 c.208T>C c.(208-210)TAC>CAC p.Y70H KLHL36_uc010chl.2_Missense_Mutation_p.Y69H NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN kelch-like 36 70 BTB. skin(2) 2 GTGCAGCGACTACTTCAACTC 0.622 ZCCHC14 23174 broad.mit.edu 37 16 87451111 87451111 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:87451111A>G uc002fjz.1 - 8 954 c.927T>C c.(925-927)CGT>CGC p.R309R ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Silent_p.R85R NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 309 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) ACTTGTGCAAACGCAGTTTCC 0.507 OREG0024030 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SNAI3 333929 broad.mit.edu 37 16 88744893 88744893 + Missense_Mutation SNP G G A rs147688628 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:88744893G>A uc002flj.2 - 3 910 c.842C>T c.(841-843)GCG>GTG p.A281V MGC23284_uc002fli.3_Intron NM_178310 NP_840101 Q3KNW1 SNAI3_HUMAN snail homolog 3 281 C2H2-type 5; degenerate. oxidation-reduction process copper ion binding|DNA binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.048) CTCATGCCGCGCCAGGAGGGA 0.677 CDT1 81620 broad.mit.edu 37 16 88873791 88873791 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:88873791G>A uc002flu.2 + 9 1432 c.1378G>A c.(1378-1380)GTG>ATG p.V460M NM_030928 NP_112190 Q9H211 CDT1_HUMAN chromatin licensing and DNA replication factor 460 DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0476) GCTGGCCCGCGTGCTGCGGAG 0.652 RPH3AL 9501 broad.mit.edu 37 17 63666 63666 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:63666C>T uc002frd.1 - 8 969 c.925G>A c.(925-927)GGC>AGC p.G309S RPH3AL_uc010vpy.1_3'UTR|RPH3AL_uc002fre.1_Missense_Mutation_p.G309S|RPH3AL_uc002frf.1_Missense_Mutation_p.G280S|RPH3AL_uc010cjl.1_Missense_Mutation_p.G280S NM_006987 NP_008918 Q9UNE2 RPH3L_HUMAN rabphilin 3A-like (without C2 domains) 309 exocytosis|intracellular protein transport transport vesicle membrane cytoskeletal protein binding|Rab GTPase binding|zinc ion binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) CTGGAGGGGCCTGCTGGAGCT 0.637 NXN 64359 broad.mit.edu 37 17 704255 704255 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:704255G>A uc002fsa.2 - 8 1334 c.1242C>T c.(1240-1242)ACC>ACT p.T414T NXN_uc010vqd.1_Silent_p.T105T|NXN_uc002frz.2_Silent_p.T165T|NXN_uc010vqe.1_Silent_p.T306T NM_022463 NP_071908 Q6DKJ4 NXN_HUMAN nucleoredoxin 414 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) CGATGGCGGGGGTGATCTCCT 0.577 SCARF1 8578 broad.mit.edu 37 17 1538704 1538704 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:1538704C>T uc002fsz.1 - 11 1891 c.1841G>A c.(1840-1842)CGA>CAA p.R614Q SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R528Q NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 614 Pro/Ser-rich.|Cytoplasmic (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CTTGGGCTTTCGGAGCGGGCT 0.662 SCARF1 8578 broad.mit.edu 37 17 1543228 1543228 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:1543228T>C uc002fsz.1 - 6 1167 c.1117A>G c.(1117-1119)AGT>GGT p.S373G SCARF1_uc002fsy.1_Missense_Mutation_p.S373G|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Intron NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 373 Extracellular (Potential).|EGF-like 6. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TAGCCGGCACTGCAGACACAG 0.632 RPA1 6117 broad.mit.edu 37 17 1798335 1798335 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:1798335T>C uc002fto.2 + 16 1807 c.1692T>C c.(1690-1692)AAT>AAC p.N564N NM_002945 NP_002936 P27694 RFA1_HUMAN replication protein A1 564 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|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 actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding 0 TTTTCCAGAATGCCAACTTCC 0.443 NER DPH1 1801 broad.mit.edu 37 17 1944878 1944878 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:1944878G>A uc002fts.2 + 11 1223 c.1205G>A c.(1204-1206)CGC>CAC p.R402H DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Missense_Mutation_p.R386H|DPH1_uc010cjx.2_Missense_Mutation_p.R262H|DPH1_uc010vqs.1_Missense_Mutation_p.R412H|DPH1_uc002ftu.2_Missense_Mutation_p.R158H|DPH1_uc002ftv.2_Missense_Mutation_p.R158H|DPH1_uc002ftw.2_Missense_Mutation_p.R130H|OVCA2_uc002ftx.2_5'Flank NM_001383 NP_001374 Q9BZG8 DPH1_HUMAN diptheria toxin resistance protein required for 402 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus pancreas(1) 1 GGCCAGGACCGCCGTCCCCAc 0.612 SGSM2 9905 broad.mit.edu 37 17 2265420 2265420 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:2265420G>A uc002fun.3 + 4 489 c.314G>A c.(313-315)AGC>AAC p.S105N SGSM2_uc002fum.3_Missense_Mutation_p.S105N|SGSM2_uc010vqw.1_Missense_Mutation_p.S105N NM_001098509 NP_001091979 O43147 SGSM2_HUMAN RUN and TBC1 domain containing 1 isoform 2 105 RUN. intracellular Rab GTPase activator activity 0 Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115) TCAGGGGTCAGCCAGGAGGCC 0.652 PAFAH1B1 5048 broad.mit.edu 37 17 2583573 2583573 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:2583573T>C uc002fuw.3 + 10 1686 c.1118T>C c.(1117-1119)ATG>ACG p.M373T PAFAH1B1_uc010ckb.1_Intron|PAFAH1B1_uc010vqz.1_Missense_Mutation_p.M168T NM_000430 NP_000421 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase, 373 Interaction with dynein and dynactin.|Interaction with DCX.|WD 6. 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 AAGCGATGCATGAAGACCCTC 0.473 ATP2A3 489 broad.mit.edu 37 17 3854680 3854680 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:3854680G>A uc002fxb.1 - 5 479 c.328C>T c.(328-330)CGC>TGC p.R110C ATP2A3_uc002fwx.1_Missense_Mutation_p.R110C|ATP2A3_uc002fwy.1_Missense_Mutation_p.R110C|ATP2A3_uc002fwz.1_Missense_Mutation_p.R110C|ATP2A3_uc002fxa.1_Missense_Mutation_p.R110C|ATP2A3_uc002fxc.1_Missense_Mutation_p.R110C|ATP2A3_uc002fxd.1_Missense_Mutation_p.R110C NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 110 Helical; Name=2; (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) TCGGCGTTGCGTTCCTGCAGA 0.652 ZZEF1 23140 broad.mit.edu 37 17 3992073 3992073 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:3992073C>T uc002fxe.2 - 13 2204 c.2140G>A c.(2140-2142)GTC>ATC p.V714I ZZEF1_uc002fxk.1_Missense_Mutation_p.V714I NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 714 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCACAGGTGACGCTCTGTTCT 0.587 ZZEF1 23140 broad.mit.edu 37 17 3992159 3992159 + Missense_Mutation SNP C C T rs80233645 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:3992159C>T uc002fxe.2 - 13 2118 c.2054G>A c.(2053-2055)CGT>CAT p.R685H ZZEF1_uc002fxk.1_Missense_Mutation_p.R685H NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 685 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGACTCCTGACGGGTGCAGAG 0.502 MINK1 50488 broad.mit.edu 37 17 4796056 4796056 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:4796056C>T uc010vsl.1 + 19 2500 c.2304C>T c.(2302-2304)CGC>CGT p.R768R MINK1_uc010vsk.1_Silent_p.R731R|MINK1_uc010vsm.1_Silent_p.R748R|MINK1_uc010vsn.1_Silent_p.R731R|MINK1_uc010vso.1_Silent_p.R676R|MINK1_uc010vsp.1_Silent_p.R221R NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 isoform 3 768 JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1) 6 AGCGGAACCGCGTGGGAGGTA 0.677 USP6 9098 broad.mit.edu 37 17 5042837 5042837 + Missense_Mutation SNP C C T rs61745111 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:5042837C>T uc002gau.1 + 22 3596 c.1366C>T c.(1366-1368)CGG>TGG p.R456W USP6_uc002gav.1_Missense_Mutation_p.R456W|USP6_uc010ckz.1_Missense_Mutation_p.R139W|uc002gbd.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 456 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.R456W(1) skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 GTCAATGCCCCGGCTCCCAAC 0.612 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts KIAA0753 9851 broad.mit.edu 37 17 6493254 6493254 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:6493254G>A uc002gde.3 - 18 2990 c.2631C>T c.(2629-2631)GCC>GCT p.A877A KIAA0753_uc010vtd.1_Silent_p.A333A|KIAA0753_uc010clo.2_Silent_p.A578A|KIAA0753_uc010vte.1_Silent_p.A578A NM_014804 NP_055619 Q2KHM9 K0753_HUMAN hypothetical protein LOC9851 877 centrosome 0 COAD - Colon adenocarcinoma(228;0.157) GAGAATCTTCGGCTAGGGAGA 0.488 FBXO39 162517 broad.mit.edu 37 17 6690225 6690225 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:6690225C>T uc010vtg.1 + 3 1270 c.1150C>T c.(1150-1152)CGG>TGG p.R384W FBXO39_uc010cls.1_RNA NM_153230 NP_694962 Q8N4B4 FBX39_HUMAN F-box protein 39 384 ovary(1)|skin(1) 2 TTTTGTGGAGCGGATCCTGAA 0.522 C17orf74 201243 broad.mit.edu 37 17 7329861 7329861 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:7329861A>G uc002ggw.2 + 3 624 c.551A>G c.(550-552)TAC>TGC p.Y184C FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 184 integral to membrane 0 Prostate(122;0.157) CCGGATTCCTACCTGGAGGAG 0.582 TRAPPC1 58485 broad.mit.edu 37 17 7835194 7835194 + Translation_Start_Site SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:7835194C>A uc002gjo.1 - 1 70 c.-46G>T c.(-48--44)AAGGA>AATGA KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank|CNTROB_uc002gjr.2_5'Flank NM_021210 NP_067033 Q9Y5R8 TPPC1_HUMAN trafficking protein particle complex 1 ER to Golgi vesicle-mediated transport endoplasmic reticulum 0 Prostate(122;0.173) GCCCCCACTCCTTGGGCTCGG 0.637 ARHGEF15 22899 broad.mit.edu 37 17 8219438 8219438 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:8219438G>A uc002glc.2 + 9 1797 c.1676G>A c.(1675-1677)CGC>CAC p.R559H ARHGEF15_uc002gld.2_Missense_Mutation_p.R559H|ARHGEF15_uc010vuw.1_Missense_Mutation_p.R448H NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 559 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CCCTTCCAGCGCATCACCCGG 0.672 MYH3 4621 broad.mit.edu 37 17 10549160 10549160 + Silent SNP G G A rs142547724 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:10549160G>A uc002gmq.1 - 11 1082 c.1005C>T c.(1003-1005)AGC>AGT p.S335S NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 335 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 TGTCAATGGCGCTCTGGCATG 0.562 OREG0024181 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DNAH9 1770 broad.mit.edu 37 17 11827202 11827202 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:11827202G>A uc002gne.2 + 62 11889 c.11821G>A c.(11821-11823)GTG>ATG p.V3941M DNAH9_uc010coo.2_Missense_Mutation_p.V3235M|DNAH9_uc002gnf.2_Missense_Mutation_p.V253M|DNAH9_uc010vvh.1_Missense_Mutation_p.V294M NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3941 AAA 6 (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) ACAGGAAGTGGTGGCTGAGGC 0.478 RAI1 10743 broad.mit.edu 37 17 17700893 17700893 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:17700893G>A uc002grm.2 + 3 5100 c.4631G>A c.(4630-4632)CGG>CAG p.R1544Q RAI1_uc002grn.1_Missense_Mutation_p.R1544Q NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1544 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) ACTCGGGGCCGGGCCAAGAAC 0.652 RAI1 10743 broad.mit.edu 37 17 17707165 17707165 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:17707165T>C uc002grm.2 + 4 6128 c.5659_splice c.e4+2 p.G1887_splice NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) GCGATGCAGGTACGAGCCCGC 0.632 CYTSB 92521 broad.mit.edu 37 17 20149335 20149335 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:20149335G>A uc002gwq.2 + 8 2593 c.2448G>A c.(2446-2448)TCG>TCA p.S816S CYTSB_uc002gws.2_Silent_p.S816S|CYTSB_uc002gwv.2_Silent_p.S735S|CYTSB_uc010vzf.1_Silent_p.S156S|CYTSB_uc002gww.2_Silent_p.S592S NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 816 nucleus 0 CCCCAGAGTCGGCAACCACCG 0.493 TMEM97 27346 broad.mit.edu 37 17 26653775 26653775 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:26653775C>T uc002hat.2 + 3 632 c.487C>T c.(487-489)CGG>TGG p.R163W NM_014573 NP_055388 Q5BJF2 TMM97_HUMAN transmembrane protein 97 163 Cytoplasmic (Potential). cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding 0 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) TTTCATGTTGCGGAGCCCCTA 0.438 VTN 7448 broad.mit.edu 37 17 26696686 26696686 + Missense_Mutation SNP G G A rs144093348 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:26696686G>A uc002hbc.2 - 3 520 c.371C>T c.(370-372)GCG>GTG p.A124V SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank NM_000638 NP_000629 P04004 VTNC_HUMAN vitronectin precursor 124 cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity ovary(1)|kidney(1) 2 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) CACCTCAGGCGCAGGGGCCTC 0.627 UNC119 9094 broad.mit.edu 37 17 26875065 26875065 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:26875065C>T uc002hbk.2 - 3 460 c.389G>A c.(388-390)CGC>CAC p.R130H UNC119_uc002hbm.2_Missense_Mutation_p.R130H|UNC119_uc002hbl.1_5'Flank NM_005148 NP_005139 Q13432 U119A_HUMAN unc119 (C.elegans) homolog isoform a 130 phototransduction|synaptic transmission|visual perception cytosol|soluble fraction 0 Lung NSC(42;0.00431) GAACTGGTAGCGGACAAAGCG 0.542 OREG0024277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) MYO18A 399687 broad.mit.edu 37 17 27448659 27448659 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:27448659C>T uc002hdt.1 - 5 1435 c.1277G>A c.(1276-1278)CGC>CAC p.R426H MYO18A_uc010wbc.1_5'UTR|MYO18A_uc002hds.2_5'UTR|MYO18A_uc010csa.1_Missense_Mutation_p.R426H|MYO18A_uc002hdu.1_Missense_Mutation_p.R426H|MYO18A_uc010wbd.1_Missense_Mutation_p.R95H NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 426 Myosin head-like. 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) ATAGCGCTGGCGCAAGGTGTG 0.637 TP53I13 90313 broad.mit.edu 37 17 27898873 27898873 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:27898873A>G uc002hee.2 + 5 351 c.313_splice c.e5-2 p.P105_splice NM_138349 NP_612358 Q8NBR0 P5I13_HUMAN tumor protein p53 inducible protein 13 cytoplasm|integral to membrane|plasma membrane 0 READ - Rectum adenocarcinoma(3;0.236) CTCCTCTCGTAGCCCCTGGTG 0.602 CPD 1362 broad.mit.edu 37 17 28712232 28712232 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:28712232C>T uc002hfb.1 + 2 987 c.972C>T c.(970-972)GGC>GGT p.G324G CPD_uc010wbo.1_Silent_p.G77G|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 324 Extracellular (Potential).|Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 TCACAAACGGCGCACATTGGT 0.408 UTP6 55813 broad.mit.edu 37 17 30192396 30192396 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:30192396G>A uc002hgr.2 - 18 1708 c.1625C>T c.(1624-1626)TCC>TTC p.S542F UTP6_uc002hgq.2_Missense_Mutation_p.S358F|UTP6_uc010cst.2_Missense_Mutation_p.S391F NM_018428 NP_060898 Q9NYH9 UTP6_HUMAN hepatocellular carcinoma-associated antigen 66 542 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) AGAATCTGCGGATCCAAACTC 0.303 UNC45B 146862 broad.mit.edu 37 17 33513405 33513405 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:33513405C>A uc002hja.2 + 20 2720 c.2623C>A c.(2623-2625)CTA>ATA p.L875I UNC45B_uc002hjb.2_Missense_Mutation_p.L873I|UNC45B_uc002hjc.2_Missense_Mutation_p.L873I|UNC45B_uc010cto.2_Missense_Mutation_p.L794I NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN cardiomyopathy associated 4 isoform 1 875 cell differentiation|muscle organ development cytosol binding ovary(3)|central_nervous_system(2)|breast(1) 6 Ovarian(249;0.17) TGCCTACAACCTACTGGCAGC 0.597 AMAC1 146861 broad.mit.edu 37 17 33520761 33520761 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:33520761G>C uc002hjd.2 - 1 652 c.566C>G c.(565-567)ACC>AGC p.T189S NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 189 Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) GCCCAGGGCGGTGTAGACACC 0.597 SLFN11 91607 broad.mit.edu 37 17 33689952 33689952 + Missense_Mutation SNP G G A rs142137401 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:33689952G>A uc010ctp.2 - 4 1317 c.875C>T c.(874-876)CCG>CTG p.P292L SLFN11_uc010ctq.2_Missense_Mutation_p.P292L|SLFN11_uc002hjh.3_Missense_Mutation_p.P292L|SLFN11_uc002hjg.3_Missense_Mutation_p.P292L|SLFN11_uc010ctr.2_Missense_Mutation_p.P292L NM_001104588 NP_001098058 Q7Z7L1 SLN11_HUMAN schlafen family member 11 292 nucleus ATP binding large_intestine(1)|ovary(1)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GAAGGTTATCGGGCGTTGGGG 0.418 PIGW 284098 broad.mit.edu 37 17 34893363 34893363 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:34893363C>T uc002hmy.1 + 2 456 c.413C>T c.(412-414)GCG>GTG p.A138V MYO19_uc002hmw.2_5'Flank|MYO19_uc010cuu.2_5'Flank|MYO19_uc010wcy.1_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Missense_Mutation_p.A138V NM_178517 NP_848612 Q7Z7B1 PIGW_HUMAN phosphatidylinositol glycan, class W 138 Helical; (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane O-acyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ATTACCAGTGCGTTTACTGCT 0.418 GGNBP2 79893 broad.mit.edu 37 17 34942390 34942390 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:34942390A>G uc002hnb.2 + 11 1736 c.1487A>G c.(1486-1488)GAA>GGA p.E496G GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.E325G NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 496 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) AATCATGATGAACACGGTAGG 0.418 NEUROD2 4761 broad.mit.edu 37 17 37761804 37761804 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:37761804C>T uc002hry.2 - 2 1249 c.1049G>A c.(1048-1050)CGC>CAC p.R350H NM_006160 NP_006151 Q15784 NDF2_HUMAN neurogenic differentiation 2 350 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) GACGCCCCCGCGCACAGCCGA 0.602 KRT38 8687 broad.mit.edu 37 17 39594763 39594763 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:39594763G>A uc002hwq.1 - 5 1423 c.1000C>T c.(1000-1002)CGC>TGC p.R334C NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 334 Coil 2.|Rod. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) TGGGCTTGGCGCTCCACCTCC 0.577 KRT32 3882 broad.mit.edu 37 17 39623442 39623442 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:39623442A>G uc002hwr.2 - 1 197 c.136T>C c.(136-138)TGC>CGC p.C46R NM_002278 NP_002269 Q14532 K1H2_HUMAN keratin 32 46 Head. epidermis development intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000812) GAAGGCAGGCATGCCATGGGC 0.652 KRT36 8689 broad.mit.edu 37 17 39643875 39643875 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:39643875G>T uc002hwt.2 - 4 814 c.814C>A c.(814-816)CTG>ATG p.L272M NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 272 Rod.|Coil 2. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) TTCTCCACCAGGGCCTCGTAC 0.612 ATP6V0A1 535 broad.mit.edu 37 17 40660596 40660596 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:40660596G>A uc002hzr.2 + 19 2286 c.2119G>A c.(2119-2121)GAG>AAG p.E707K ATP6V0A1_uc002hzq.2_Intron|ATP6V0A1_uc002hzs.2_Intron|ATP6V0A1_uc010wgj.1_Missense_Mutation_p.E664K|ATP6V0A1_uc010wgk.1_Intron|ATP6V0A1_uc010cyg.2_Missense_Mutation_p.E353K|ATP6V0A1_uc010wgl.1_Missense_Mutation_p.E566K|ATP6V0A1_uc002hzt.2_Intron NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 707 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) CAAGCCTTCCGAGGACGAAGT 0.517 CNTNAP1 8506 broad.mit.edu 37 17 40845418 40845418 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:40845418T>C uc002iay.2 + 18 3072 c.2856T>C c.(2854-2856)GGT>GGC p.G952G CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 952 Laminin G-like 3.|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) CCTCTGAGGGTACCTCACCCA 0.607 WNK4 65266 broad.mit.edu 37 17 40948206 40948206 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:40948206G>A uc002ibj.2 + 17 3518 c.3497G>A c.(3496-3498)CGG>CAG p.R1166Q WNK4_uc010wgx.1_Missense_Mutation_p.R830Q|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1166 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TTGTACAGCCGGCTGGGGAAG 0.597 DHX8 1659 broad.mit.edu 37 17 41570258 41570258 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:41570258G>A uc002idu.1 + 6 786 c.713G>A c.(712-714)CGG>CAG p.R238Q DHX8_uc010wif.1_Missense_Mutation_p.R147Q|DHX8_uc010wig.1_Missense_Mutation_p.R238Q NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 238 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) CGGAAGGACCGGGACAAATAT 0.537 PPY 5539 broad.mit.edu 37 17 42018946 42018946 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:42018946C>T uc002iep.2 - 2 122 c.77G>A c.(76-78)GGT>GAT p.G26D NM_002722 NP_002713 P01298 PAHO_HUMAN pancreatic polypeptide preproprotein 26 digestion|protein secretion extracellular region hormone activity 0 Breast(137;0.00314)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) TCCCTGGGCACCCAGCAGTGG 0.612 GPATCH8 23131 broad.mit.edu 37 17 42512489 42512489 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:42512489G>A uc002igw.1 - 5 356 c.292C>T c.(292-294)CGC>TGC p.R98C GPATCH8_uc002igv.1_Missense_Mutation_p.R20C|GPATCH8_uc010wiz.1_Missense_Mutation_p.R20C NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 98 Potential. intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) AGGACACGGCGCCGTTCGGTA 0.383 FMNL1 752 broad.mit.edu 37 17 43311489 43311489 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:43311489A>G uc002iin.2 + 6 736 c.536A>G c.(535-537)AAG>AGG p.K179R FMNL1_uc002iio.2_Missense_Mutation_p.K124R NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 179 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 GAGAAAAACAAGCCCCTGGAG 0.587 PLEKHM1 9842 broad.mit.edu 37 17 43552823 43552823 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:43552823G>A uc002ija.2 - 4 736 c.566C>T c.(565-567)ACG>ATG p.T189M PLEKHM1_uc010wjm.1_Missense_Mutation_p.T161M|PLEKHM1_uc002ijb.2_Translation_Start_Site|PLEKHM1_uc010wjn.1_Missense_Mutation_p.T138M|hsa-mir-4315-1|MI0015844_5'Flank NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 189 intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) TGGGGTGAGCGTCCACTCATT 0.567 MAPT 4137 broad.mit.edu 37 17 44101483 44101483 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:44101483G>A uc002ijr.3 + 14 2543 c.2223G>A c.(2221-2223)CAG>CAA p.Q741Q MAPT_uc010dau.2_Silent_p.Q759Q|MAPT_uc002ijs.3_Silent_p.Q424Q|MAPT_uc002ijx.3_Silent_p.Q395Q|MAPT_uc002ijt.3_Silent_p.Q366Q|MAPT_uc002iju.3_Silent_p.Q335Q|MAPT_uc002ijv.3_Silent_p.Q342Q NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 741 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton pancreas(1) 1 Melanoma(429;0.216) ACTCGCCCCAGCTCGCCACGC 0.592 C17orf57 124989 broad.mit.edu 37 17 45421629 45421629 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:45421629A>G uc002iln.2 + 7 816 c.405A>G c.(403-405)TCA>TCG p.S135S ITGB3_uc010wkr.1_RNA|C17orf57_uc002ilm.2_Silent_p.S135S|C17orf57_uc002ill.1_5'UTR|C17orf57_uc010daz.1_Silent_p.S135S NM_152347 NP_689560 Q8IY85 CQ057_HUMAN hypothetical protein LOC124989 135 calcium ion binding breast(1)|central_nervous_system(1)|skin(1) 3 AGACTTCATCACCTCTTTGTA 0.383 MRPL10 124995 broad.mit.edu 37 17 45904455 45904455 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:45904455C>T uc002ilz.2 - 3 364 c.338G>A c.(337-339)CGA>CAA p.R113Q MRPL10_uc010wky.1_Missense_Mutation_p.R74Q|MRPL10_uc002ily.2_Missense_Mutation_p.R123Q NM_145255 NP_660298 Q7Z7H8 RM10_HUMAN mitochondrial ribosomal protein L10 precursor 113 ribosome biogenesis|translation mitochondrial large ribosomal subunit structural constituent of ribosome ovary(1) 1 CAGCTGGTGTCGCATAAGAAG 0.577 SKAP1 8631 broad.mit.edu 37 17 46257474 46257474 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:46257474C>A uc002ini.1 - 9 880 c.768G>T c.(766-768)GTG>GTT p.V256V SKAP1_uc002inj.1_Silent_p.V256V|SKAP1_uc010dbd.1_Silent_p.V162V|SKAP1_uc010dbe.1_Silent_p.V256V NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 isoform 256 positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding 0 CTTTTATCCCCACACTCCCAG 0.373 COL1A1 1277 broad.mit.edu 37 17 48267440 48267440 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:48267440G>A uc002iqm.2 - 36 2607 c.2481C>T c.(2479-2481)GGC>GGT p.G827G NM_000088 NP_000079 P02452 CO1A1_HUMAN alpha 1 type I collagen preproprotein 827 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(372) soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1) 382 Collagenase(DB00048)|Palifermin(DB00039) CACCAGGTTCGCCTTTAGCAC 0.652 T PDGFB|USP6 dermatofibrosarcoma protuberans|aneurysmal bone cyst Osteogenesis imperfecta MYCBPAP 84073 broad.mit.edu 37 17 48603286 48603286 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:48603286G>A uc010wmr.1 + 14 2118 c.1956G>A c.(1954-1956)TGG>TGA p.W652* MYCBPAP_uc002iqz.2_RNA NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Myc-binding protein-associated protein 615 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding urinary_tract(2)|skin(2)|ovary(1)|pancreas(1) 6 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) ACCAACTGTGGCGCCAGTACA 0.592 HLF 3131 broad.mit.edu 37 17 53342893 53342893 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:53342893G>A uc002iug.1 + 1 573 c.48G>A c.(46-48)CCG>CCA p.P16P HLF_uc010dce.1_5'Flank|HLF_uc002iuh.2_5'Flank|HLF_uc010wni.1_5'Flank NM_002126 NP_002117 Q16534 HLF_HUMAN hepatic leukemia factor 16 multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter nucleus double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 CCTTTATCCCGCCTCCCTACG 0.572 T TCF3 ALL SCPEP1 59342 broad.mit.edu 37 17 55058503 55058503 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:55058503G>A uc002iuv.3 + 2 190 c.137G>A c.(136-138)CGC>CAC p.R46H SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_5'UTR NM_021626 NP_067639 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 precursor 46 proteolysis extracellular region serine-type carboxypeptidase activity skin(1) 1 Breast(9;2.86e-08) GTGACGGTCCGCAAGGATGCC 0.498 MKS1 54903 broad.mit.edu 37 17 56288385 56288385 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:56288385T>C uc002ivr.1 - 10 991 c.916_splice c.e10-1 p.T306_splice MKS1_uc010wnq.1_Splice_Site_p.T103_splice|MKS1_uc002ivs.1_Splice_Site_p.T306_splice NM_017777 NP_060247 Q9NXB0 MKS1_HUMAN Meckel syndrome type 1 protein isoform 1 cilium assembly centrosome|cilium|microtubule basal body protein binding ovary(1) 1 TGGGACAGTCTAAGGTGAAGA 0.537 C17orf71 55181 broad.mit.edu 37 17 57290863 57290863 + Silent SNP A A G rs140931963 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:57290863A>G uc002ixi.2 + 3 2721 c.2679A>G c.(2677-2679)TCA>TCG p.S893S NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 893 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) ATATTCTGTCATCCTCTCAAG 0.428 DHX40 79665 broad.mit.edu 37 17 57654713 57654713 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:57654713A>T uc002ixn.1 + 8 1207 c.1060A>T c.(1060-1062)ATA>TTA p.I354L DHX40_uc010woe.1_Missense_Mutation_p.I277L|DHX40_uc002ixo.1_Missense_Mutation_p.I255L NM_024612 NP_078888 Q8IX18 DHX40_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 40 354 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GTCTTTGACAATAGATGGAAT 0.353 LRRC37A3 374819 broad.mit.edu 37 17 62856347 62856347 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:62856347C>T uc002jey.2 - 11 4448 c.3917G>A c.(3916-3918)CGC>CAC p.R1306H LRRC37A3_uc010wqg.1_Missense_Mutation_p.R424H|LRRC37A3_uc002jex.1_Missense_Mutation_p.R283H|LRRC37A3_uc010wqf.1_Missense_Mutation_p.R344H|LRRC37A3_uc010dek.1_Missense_Mutation_p.R312H NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1306 Extracellular (Potential). integral to membrane 0 TTTGTGAAAGCGGTATTTTTT 0.403 CACNG1 786 broad.mit.edu 37 17 65050148 65050148 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:65050148G>A uc002jfu.2 + 2 337 c.266G>A c.(265-267)GGC>GAC p.G89D NM_000727 NP_000718 Q06432 CCG1_HUMAN voltage-dependent calcium channel gamma-1 89 muscle contraction voltage-gated calcium channel complex voltage-gated calcium channel activity 0 all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12) Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661) TTTAACCCCGGCGAGAGCTCG 0.557 BPTF 2186 broad.mit.edu 37 17 65900946 65900946 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:65900946G>A uc002jgf.2 + 9 2863 c.2802G>A c.(2800-2802)TCG>TCA p.S934S BPTF_uc002jge.2_Silent_p.S1060S|BPTF_uc010wqm.1_Silent_p.S997S NM_182641 NP_872579 Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1060 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) ACAGAAAGTCGTTAGAAGGAA 0.303 ABCA10 10349 broad.mit.edu 37 17 67178331 67178331 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:67178331G>A uc010dfa.1 - 23 3611 c.2732C>T c.(2731-2733)ACG>ATG p.T911M ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.T512M NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 911 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) AATAAGCTCCGTGAAGTTAAA 0.294 KCNJ2 3759 broad.mit.edu 37 17 68171276 68171276 + Silent SNP C C T rs67120636 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:68171276C>T uc010dfg.2 + 2 497 c.96C>T c.(94-96)AAC>AAT p.N32N KCNJ2_uc002jir.2_Silent_p.N32N NM_000891 NP_000882 P63252 IRK2_HUMAN potassium inwardly-rectifying channel J2 32 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding 0 Breast(10;1.64e-08) GCTTTGGGAACGGGAAGAGTA 0.517 FDXR 2232 broad.mit.edu 37 17 72860081 72860081 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:72860081C>T uc002jly.2 - 10 1198 c.1111G>A c.(1111-1113)GTG>ATG p.V371M FDXR_uc010wri.1_Missense_Mutation_p.V319M|FDXR_uc010wrj.1_Missense_Mutation_p.V369M|FDXR_uc002jlw.2_Missense_Mutation_p.V128M|FDXR_uc002jlx.2_Missense_Mutation_p.V377M|FDXR_uc002jmc.2_Missense_Mutation_p.V343M|FDXR_uc010wrk.1_Missense_Mutation_p.V402M|FDXR_uc010wrl.1_Missense_Mutation_p.V414M|FDXR_uc002jma.2_Missense_Mutation_p.V372M|FDXR_uc010wrm.1_Missense_Mutation_p.V331M|FDXR_uc002jlz.2_Missense_Mutation_p.V363M|FDXR_uc002jmb.2_Intron NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 371 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding 0 all_lung(278;0.172)|Lung NSC(278;0.207) TCAAAGGGCACGCTTGGGTCG 0.607 OTOP2 92736 broad.mit.edu 37 17 72926394 72926394 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:72926394G>A uc010wrp.1 + 7 753 c.664G>A c.(664-666)GGA>AGA p.G222R NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN otopetrin 2 222 integral to membrane ovary(3)|large_intestine(1) 4 all_lung(278;0.172)|Lung NSC(278;0.207) CAACCCGGTCGGAGGAGACTC 0.572 C17orf28 283987 broad.mit.edu 37 17 72951939 72951939 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:72951939C>T uc002jmj.3 - 13 1733 c.1584G>A c.(1582-1584)CTG>CTA p.L528L C17orf28_uc002jmi.2_5'Flank|C17orf28_uc010wrs.1_Silent_p.L327L NM_030630 NP_085133 Q8IV36 CQ028_HUMAN hypothetical protein LOC283987 528 integral to membrane|plasma membrane protein binding 0 all_lung(278;0.151)|Lung NSC(278;0.185) GGAAGAAGACCAGGTGGTGGT 0.592 CDR2L 30850 broad.mit.edu 37 17 72998316 72998316 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:72998316A>G uc002jml.3 + 4 911 c.499A>G c.(499-501)AGC>GGC p.S167G NM_014603 NP_055418 Q86X02 CDR2L_HUMAN cerebellar degeneration-related protein 2-like 167 0 all_lung(278;0.226) GCTGTGCACCAGCCCCCGGTA 0.627 CASKIN2 57513 broad.mit.edu 37 17 73501711 73501711 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:73501711A>G uc002joc.2 - 10 1407 c.857T>C c.(856-858)GTC>GCC p.V286A CASKIN2_uc010wsc.1_Missense_Mutation_p.V204A|CASKIN2_uc002jod.2_Missense_Mutation_p.V286A NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 286 SH3. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GAGCGCTCGGACCTTCAGGAT 0.582 ITGB4 3691 broad.mit.edu 37 17 73728020 73728020 + Missense_Mutation SNP C C T rs144804175 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:73728020C>T uc002jpg.2 + 11 1530 c.1343C>T c.(1342-1344)GCG>GTG p.A448V ITGB4_uc002jph.2_Missense_Mutation_p.A448V|ITGB4_uc010dgo.2_Missense_Mutation_p.A448V|ITGB4_uc002jpi.3_Missense_Mutation_p.A448V|ITGB4_uc010dgp.1_Missense_Mutation_p.A448V|ITGB4_uc002jpj.2_Missense_Mutation_p.A448V|ITGB4_uc010wsh.1_Missense_Mutation_p.A3V NM_000213 NP_000204 P16144 ITB4_HUMAN integrin beta 4 isoform 1 precursor 448 Extracellular (Potential). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity lung(4) 4 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AAGATGGACGCGGGCATCATC 0.627 UNK 85451 broad.mit.edu 37 17 73805997 73805997 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:73805997C>T uc002jpm.2 + 3 489 c.489C>T c.(487-489)GAC>GAT p.D163D NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN zinc finger CCCH-type domain containing 5 87 C3H1-type 1. nucleic acid binding|zinc ion binding 0 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) ACAGCCCTGACGTCTACTGCA 0.652 EXOC7 23265 broad.mit.edu 37 17 74079765 74079765 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:74079765G>A uc002jqs.2 - 20 2267 c.2172C>T c.(2170-2172)GGC>GGT p.G724G EXOC7_uc002jqp.1_Missense_Mutation_p.A186V|EXOC7_uc010dgv.1_Silent_p.G598G|EXOC7_uc002jqq.2_Silent_p.G673G|EXOC7_uc010wsw.1_Silent_p.G696G|EXOC7_uc010wsx.1_Silent_p.G665G|EXOC7_uc002jqr.2_Silent_p.G642G|EXOC7_uc010wsv.1_Silent_p.G645G NM_001145297 NP_001138769 Q9UPT5 EXOC7_HUMAN exocyst complex component 7 isoform 4 724 exocytosis|protein transport centriolar satellite|cytosol|exocyst|plasma membrane protein binding 0 LUSC - Lung squamous cell carcinoma(166;0.187) CGATCATGTCGCCCACCTGCT 0.587 CBX2 84733 broad.mit.edu 37 17 77757794 77757794 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:77757794G>T uc002jxc.2 + 5 594 c.552G>T c.(550-552)AAG>AAT p.K184N NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 184 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GCCTGGCCAAGGTGCTGAAGA 0.677 CCDC40 55036 broad.mit.edu 37 17 78039298 78039298 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:78039298C>T uc010dht.2 + 10 1482 c.1455C>T c.(1453-1455)ATC>ATT p.I485I CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Silent_p.I268I NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 485 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCACCGAGATCGACGCCATCA 0.622 CCDC40 55036 broad.mit.edu 37 17 78063670 78063670 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:78063670T>C uc010dht.2 + 17 2846 c.2819T>C c.(2818-2820)ATC>ACC p.I940T CCDC40_uc002jxm.3_Missense_Mutation_p.I723T|CCDC40_uc002jxn.3_Missense_Mutation_p.I336T NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 940 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AAGGGCGAGATCCACAGGATG 0.597 RNF213 57674 broad.mit.edu 37 17 78346440 78346440 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:78346440C>T uc002jyh.1 + 23 7099 c.6876C>T c.(6874-6876)AAC>AAT p.N2292N uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.N674N NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_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) AGCCTGCCAACGAGGCCTCGG 0.577 RNF213 57674 broad.mit.edu 37 17 78346893 78346893 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:78346893G>C uc002jyh.1 + 24 7312 c.7089G>C c.(7087-7089)GAG>GAC p.E2363D uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.E745D 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) GGGGGATGGAGTTCGTGCAGG 0.637 NPTX1 4884 broad.mit.edu 37 17 78449519 78449519 + Splice_Site SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:78449519C>T uc002jyp.1 - 2 603 c.445_splice c.e2-1 p.Q149_splice NM_002522 NP_002513 Q15818 NPTX1_HUMAN neuronal pentraxin I precursor central nervous system development|synaptic transmission|transport transport vesicle metal ion binding 0 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) GGCTGTACTGCTGCGGGGTGC 0.682 BAIAP2 10458 broad.mit.edu 37 17 79077743 79077743 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:79077743G>A uc002jzg.2 + 9 1009 c.901G>A c.(901-903)GGC>AGC p.G301S BAIAP2_uc002jyz.3_Missense_Mutation_p.G301S|BAIAP2_uc002jza.2_Missense_Mutation_p.G301S|BAIAP2_uc002jzc.2_Missense_Mutation_p.G301S|BAIAP2_uc002jzb.2_Missense_Mutation_p.G58S|BAIAP2_uc002jzd.2_Missense_Mutation_p.G301S|BAIAP2_uc002jzf.2_Missense_Mutation_p.G301S|BAIAP2_uc002jze.2_Missense_Mutation_p.G334S|BAIAP2_uc010wuh.1_Missense_Mutation_p.G223S|BAIAP2_uc002jzh.2_Missense_Mutation_p.G302S|BAIAP2_uc010wui.1_Missense_Mutation_p.G164S NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 301 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CATCATGAACGGCGTCACAGG 0.652 ASPSCR1 79058 broad.mit.edu 37 17 79954320 79954320 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:79954320C>T uc002kcx.2 + 7 628 c.531C>T c.(529-531)CCC>CCT p.P177P ASPSCR1_uc002kcw.1_Silent_p.P177P|ASPSCR1_uc002kcy.2_Silent_p.P177P|ASPSCR1_uc002kcz.2_Intron|ASPSCR1_uc002kda.2_Silent_p.P100P|ASPSCR1_uc002kdb.1_Silent_p.P100P NM_024083 NP_076988 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, 177 protein binding ASPSCR1/TFE3(161) soft_tissue(118)|kidney(43)|breast(1) 162 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GCTACGACCCCGTGGGCAAGA 0.582 T TFE3 alveolar soft part sarcoma ASPSCR1 79058 broad.mit.edu 37 17 79974836 79974836 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:79974836G>A uc002kcx.2 + 15 1592 c.1495G>A c.(1495-1497)GGG>AGG p.G499R ASPSCR1_uc002kcw.1_Missense_Mutation_p.G499R|ASPSCR1_uc002kcy.2_Missense_Mutation_p.G593R|ASPSCR1_uc002kcz.2_Missense_Mutation_p.G393R|ASPSCR1_uc002kda.2_Missense_Mutation_p.G447R NM_024083 NP_076988 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, 499 protein binding ASPSCR1/TFE3(161) soft_tissue(118)|kidney(43)|breast(1) 162 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CAGGGCCGCCGGGTCCCCTTC 0.692 T TFE3 alveolar soft part sarcoma FASN 2194 broad.mit.edu 37 17 80037389 80037389 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:80037389C>A uc002kdu.2 - 42 7359 c.7242G>T c.(7240-7242)CAG>CAT p.Q2414H FASN_uc002kdv.1_RNA NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 2414 Thioesterase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) AGCTCAGCTCCTGGCGGTCCA 0.642 C17orf62 79415 broad.mit.edu 37 17 80402350 80402350 + Missense_Mutation SNP G G A rs139347006 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:80402350G>A uc002kez.2 - 5 464 c.416C>T c.(415-417)ACG>ATG p.T139M C17orf62_uc002kex.2_Translation_Start_Site|C17orf62_uc002key.2_Translation_Start_Site|C17orf62_uc002kfa.2_Missense_Mutation_p.T139M|C17orf62_uc010dir.2_Missense_Mutation_p.T139M|C17orf62_uc002kfb.3_Missense_Mutation_p.T139M|C17orf62_uc002kfc.3_Missense_Mutation_p.T125M|C17orf62_uc002kfd.3_Translation_Start_Site|C17orf62_uc002kfe.3_Translation_Start_Site NM_001100407 NP_001093877 Q9BQA9 CQ062_HUMAN hypothetical protein LOC79415 isoform a 139 integral to membrane protein binding 0 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) TGCACTCTGCGTGAGGGGGTG 0.627 FN3K 64122 broad.mit.edu 37 17 80708552 80708552 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:80708552A>C uc010wvs.1 + 6 912 c.851A>C c.(850-852)AAC>ACC p.N284T TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank NM_022158 NP_071441 Q9H479 FN3K_HUMAN fructosamine 3 kinase 284 fructoselysine metabolic process fructosamine-3-kinase activity 0 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) CAGCTGTTTAACTACCTGAAC 0.572 MYOM1 8736 broad.mit.edu 37 18 3067480 3067480 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:3067480A>G uc002klp.2 - 38 5172 c.4838T>C c.(4837-4839)CTG>CCG p.L1613P MYOM1_uc002klq.2_Missense_Mutation_p.L1517P NM_003803 NP_003794 P52179 MYOM1_HUMAN myomesin 1 isoform a 1613 Ig-like C2-type 5. striated muscle myosin thick filament structural constituent of muscle ovary(3)|central_nervous_system(1)|pancreas(1) 5 GTCTGAGGCCAGGGCCTTCTC 0.587 LAMA1 284217 broad.mit.edu 37 18 7013850 7013850 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:7013850G>A uc002knm.2 - 23 3421 c.3327C>T c.(3325-3327)TGC>TGT p.C1109C LAMA1_uc010wzj.1_Silent_p.C585C NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1109 Laminin EGF-like 13. 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) CCACACAGCCGCAGAGACCCT 0.577 LAMA1 284217 broad.mit.edu 37 18 7036027 7036027 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:7036027C>T uc002knm.2 - 13 1892 c.1798G>A c.(1798-1800)GTA>ATA p.V600I LAMA1_uc010wzj.1_Missense_Mutation_p.V76I NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 600 Laminin IV type A 1. 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) TTACTGTCTACCGTCTCTACC 0.448 APCDD1 147495 broad.mit.edu 37 18 10471815 10471815 + Silent SNP C C T rs149506112 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:10471815C>T uc002kom.3 + 3 885 c.531C>T c.(529-531)GAC>GAT p.D177D NM_153000 NP_694545 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 177 Extracellular (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) TCCTCGCAGACGGGGGTCCCT 0.627 NAPG 8774 broad.mit.edu 37 18 10548342 10548342 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:10548342T>C uc002kon.2 + 10 859 c.632T>C c.(631-633)GTA>GCA p.V211A NAPG_uc010wzr.1_Missense_Mutation_p.V129A|NAPG_uc002koo.2_Missense_Mutation_p.V124A|NAPG_uc002kop.2_Missense_Mutation_p.V124A NM_003826 NP_003817 Q99747 SNAG_HUMAN N-ethylmaleimide-sensitive factor attachment 211 cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization membrane|membrane fraction|mitochondrion protein binding 0 AATGACTATGTAGCTGCAGAA 0.403 ROCK1 6093 broad.mit.edu 37 18 18562783 18562783 + Nonsense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:18562783C>A uc002kte.2 - 21 3441 c.2500G>T c.(2500-2502)GGA>TGA p.G834* NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 834 Glu-rich. 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) CCTTCATTTCCTCTATACTGT 0.338 CTAGE1 64693 broad.mit.edu 37 18 19997740 19997740 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:19997740C>A uc002ktv.1 - 1 139 c.35G>T c.(34-36)TGG>TTG p.W12L NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 12 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) CACCAATTCCCATGGAAAACC 0.488 NPC1 4864 broad.mit.edu 37 18 21121037 21121037 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:21121037T>A uc002kum.3 - 16 2783 c.2509A>T c.(2509-2511)ATT>TTT p.I837F NPC1_uc010xaz.1_Missense_Mutation_p.I570F|NPC1_uc010xba.1_Missense_Mutation_p.I682F NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 837 Helical; (Potential). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) CATACCACAATTGGTCTCATC 0.448 AQP4 361 broad.mit.edu 37 18 24441102 24441102 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:24441102A>G uc002kwa.2 - 3 668 c.605T>C c.(604-606)TTA>TCA p.L202S AQP4_uc002kvz.2_Missense_Mutation_p.L180S NM_001650 NP_001641 P55087 AQP4_HUMAN aquaporin 4 isoform a 202 Helical; (Potential). cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity 0 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) TACTGCAAATAAATGTCCAAT 0.393 KLHL14 57565 broad.mit.edu 37 18 30349891 30349891 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:30349891G>A uc002kxm.1 - 2 1052 c.664C>T c.(664-666)CGC>TGC p.R222C NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 222 BACK. cytosol|endoplasmic reticulum membrane ovary(1) 1 AGCAGGGCGCGCATCTCCTCG 0.657 NOL4 8715 broad.mit.edu 37 18 31803204 31803204 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:31803204C>A uc010dmi.2 - 1 243 c.14G>T c.(13-15)CGC>CTC p.R5L NOL4_uc002kxr.3_5'Flank|NOL4_uc010xbt.1_5'Flank|NOL4_uc010dmh.2_5'Flank|NOL4_uc010xbu.1_Missense_Mutation_p.R5L|NOL4_uc002kxt.3_Missense_Mutation_p.R5L NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 5 nucleolus RNA binding ovary(3) 3 GTACATGTCGCGCTCGCTCTC 0.612 SLC39A6 25800 broad.mit.edu 37 18 33694199 33694199 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:33694199G>A uc010dmy.2 - 7 1994 c.1704C>T c.(1702-1704)CAC>CAT p.H568H SLC39A6_uc002kzj.2_Silent_p.H293H NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 568 His-rich.|Cytoplasmic (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 tttggtggtggtgatgatgga 0.313 KIAA1632 57724 broad.mit.edu 37 18 43495561 43495561 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:43495561C>T uc002lbm.2 - 20 3708 c.3608G>A c.(3607-3609)CGG>CAG p.R1203Q KIAA1632_uc002lbo.1_Missense_Mutation_p.R1203Q|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.R78Q NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1203 autophagy 0 GAGCAGACTCCGGTCACAGTG 0.498 ST8SIA5 29906 broad.mit.edu 37 18 44336461 44336461 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:44336461G>A uc002lcj.1 - 1 579 c.11C>T c.(10-12)GCG>GTG p.A4V ST8SIA5_uc010xcy.1_Missense_Mutation_p.A4V|ST8SIA5_uc010xcz.1_Missense_Mutation_p.A4V|ST8SIA5_uc010dno.1_Missense_Mutation_p.A4V NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 4 Cytoplasmic (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 CGAGGGGTCCGCGTAGCGCAT 0.448 HDHD2 84064 broad.mit.edu 37 18 44660950 44660950 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:44660950A>G uc002lcs.2 - 3 360 c.227T>C c.(226-228)CTG>CCG p.L76P HDHD2_uc002lct.2_5'UTR NM_032124 NP_115500 Q9H0R4 HDHD2_HUMAN haloacid dehalogenase-like hydrolase domain 76 hydrolase activity 0 GGCTGCAGTCAGAGATGTGAA 0.413 KIAA0427 9811 broad.mit.edu 37 18 46163044 46163044 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:46163044C>A uc002ldc.2 + 3 525 c.240C>A c.(238-240)GCC>GCA p.A80A KIAA0427_uc002ldd.2_Silent_p.A80A NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 80 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 GAGGGCGAGCCCCCCCACAGC 0.642 DYM 54808 broad.mit.edu 37 18 46808386 46808386 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:46808386C>T uc002ldi.1 - 10 1471 c.1106G>A c.(1105-1107)CGC>CAC p.R369H DYM_uc010xdf.1_Missense_Mutation_p.R179H|DYM_uc002ldj.3_Missense_Mutation_p.R191H NM_017653 NP_060123 Q7RTS9 DYM_HUMAN dymeclin 369 Golgi apparatus 0 CATATCTGTGCGAGCCAACAT 0.284 DCC 1630 broad.mit.edu 37 18 50592432 50592432 + Missense_Mutation SNP G G A rs140711456 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:50592432G>A uc002lfe.1 + 7 1744 c.1157G>A c.(1156-1158)CGG>CAG p.R386Q DCC_uc010xdr.1_Missense_Mutation_p.R234Q|DCC_uc010dpf.1_Missense_Mutation_p.R41Q NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 386 Extracellular (Potential).|Ig-like C2-type 4. 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) AGCAACTTACGGATACTTGGG 0.418 ALPK2 115701 broad.mit.edu 37 18 56202918 56202918 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:56202918C>T uc002lhj.3 - 5 4715 c.4501G>A c.(4501-4503)GGT>AGT p.G1501S ALPK2_uc002lhk.1_Missense_Mutation_p.G832S NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1501 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 ATTCTTTCACCGCCTTCGCTG 0.483 ZNF516 9658 broad.mit.edu 37 18 74092152 74092152 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:74092152C>T uc010dqx.1 - 3 2153 c.1918G>A c.(1918-1920)GGC>AGC p.G640S ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 640 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) TTGGACTCGCCGGTGTCTCTT 0.537 ZNF236 7776 broad.mit.edu 37 18 74639294 74639294 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:74639294C>T uc002lmi.2 + 24 4427 c.4229C>T c.(4228-4230)ACG>ATG p.T1410M ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1410 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) CAGCAGCTCACGGGGGAGCCT 0.552 LPPR3 79948 broad.mit.edu 37 19 815829 815829 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:815829A>T uc002lpx.1 - 3 162 c.98T>A c.(97-99)ATC>AAC p.I33N LPPR3_uc010dru.1_5'Flank|LPPR3_uc002lpw.1_Missense_Mutation_p.I33N|LPPR3_uc002lpy.1_5'UTR NM_024888 NP_079164 Q6T4P5 LPPR3_HUMAN plasticity-related protein 2 33 Helical; (Potential). integral to membrane phosphatidate phosphatase activity 0 CAAGGATACGATGGAAGAAGC 0.602 HMHA1 23526 broad.mit.edu 37 19 1074618 1074618 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:1074618C>T uc002lqz.1 + 9 1230 c.999C>T c.(997-999)CAC>CAT p.H333H HMHA1_uc010xgd.1_Silent_p.H349H|HMHA1_uc010xge.1_Silent_p.H173H|HMHA1_uc002lra.1_Silent_p.H173H|HMHA1_uc002lrb.1_Silent_p.H216H|HMHA1_uc002lrc.1_5'Flank NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 333 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 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) CACAGCCCCACATGCCGCTCC 0.697 HMHA1 23526 broad.mit.edu 37 19 1080043 1080043 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:1080043C>T uc002lqz.1 + 13 1860 c.1629C>T c.(1627-1629)CAC>CAT p.H543H HMHA1_uc010xgd.1_Silent_p.H559H|HMHA1_uc010xge.1_Silent_p.H383H|HMHA1_uc002lra.1_Silent_p.H383H|HMHA1_uc002lrb.1_Silent_p.H426H|HMHA1_uc002lrc.1_Silent_p.H178H|HMHA1_uc002lrd.1_5'Flank|HMHA1_uc010dsd.1_5'Flank NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 543 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 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) ACGCCTCCCACGTGCGCCAGC 0.647 APC2 10297 broad.mit.edu 37 19 1460273 1460273 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:1460273C>T uc002lsr.1 + 11 1605 c.1397C>T c.(1396-1398)GCG>GTG p.A466V APC2_uc002lss.1_Missense_Mutation_p.A48V|APC2_uc002lst.1_Missense_Mutation_p.A466V|APC2_uc002lsu.1_Missense_Mutation_p.A465V|uc002lsv.2_5'Flank NM_005883 NP_005874 O95996 APC2_HUMAN adenomatosis polyposis coli 2 466 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) CGCCGCTACGCGGGCATGACC 0.642 TMPRSS9 360200 broad.mit.edu 37 19 2422184 2422184 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:2422184T>C uc010xgx.1 + 13 2385 c.2385T>C c.(2383-2385)ACT>ACC p.T795T NM_182973 NP_892018 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 795 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) TGAGCACCACTGCTAGGGGAC 0.662 ZNF77 58492 broad.mit.edu 37 19 2934127 2934127 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:2934127A>G uc002lws.3 - 4 1129 c.998T>C c.(997-999)TTC>TCC p.F333S NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 333 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding 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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) GTAACAAGTGAACGCTTTTCC 0.478 ZNF77 58492 broad.mit.edu 37 19 2934175 2934175 + Missense_Mutation SNP G G A rs151130031 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:2934175G>A uc002lws.3 - 4 1081 c.950C>T c.(949-951)ACG>ATG p.T317M NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 317 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding 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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) TCCAGTGTGCGTCCTCACGTG 0.458 C19orf29 58509 broad.mit.edu 37 19 3624114 3624114 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:3624114G>A uc002lyh.2 - 2 267 c.214C>T c.(214-216)CGG>TGG p.R72W C19orf29_uc002lyi.3_Missense_Mutation_p.R72W|C19orf29_uc010dto.2_RNA NM_001080543 NP_001074012 Q8WUQ7 CS029_HUMAN chromosome 19 open reading frame 29 72 catalytic step 2 spliceosome protein binding 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGGGCTCCGGCTTCGCATC 0.632 PIP5K1C 23396 broad.mit.edu 37 19 3653477 3653477 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:3653477G>A uc002lyj.1 - 7 789 c.732C>T c.(730-732)CGC>CGT p.R244R PIP5K1C_uc010xhq.1_Silent_p.R244R|PIP5K1C_uc010xhr.1_Silent_p.R244R NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 244 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) TCTTGACCACGCGGGGCAGGA 0.602 TJP3 27134 broad.mit.edu 37 19 3746525 3746525 + Missense_Mutation SNP C C T rs142262857 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:3746525C>T uc010xhv.1 + 16 2152 c.2152C>T c.(2152-2154)CGC>TGC p.R718C TJP3_uc010xhs.1_Missense_Mutation_p.R685C|TJP3_uc010xht.1_Missense_Mutation_p.R649C|TJP3_uc010xhu.1_Missense_Mutation_p.R694C|TJP3_uc010xhw.1_Missense_Mutation_p.R704C NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 699 Guanylate kinase-like. tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCATCGAGCGCCTCAACTA 0.652 DAPK3 1613 broad.mit.edu 37 19 3959614 3959614 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:3959614G>A uc002lzc.1 - 8 943 c.850C>T c.(850-852)CGT>TGT p.R284C DAPK3_uc002lzb.1_Missense_Mutation_p.R21C|DAPK3_uc002lzd.1_Missense_Mutation_p.R284C NM_001348 NP_001339 O43293 DAPK3_HUMAN death-associated protein kinase 3 284 apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|ovary(1)|large_intestine(1) 7 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) TCCTCACCACGCACGTTCCGC 0.682 ANKRD24 170961 broad.mit.edu 37 19 4216637 4216637 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:4216637G>A uc010dtt.1 + 18 1756 c.1480G>A c.(1480-1482)GCC>ACC p.A494T ANKRD24_uc002lzs.2_Missense_Mutation_p.A465T|ANKRD24_uc002lzt.2_Missense_Mutation_p.A466T NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 494 Potential. 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CTCTCTCCGGGCCGAGTTTGA 0.607 ZNRF4 148066 broad.mit.edu 37 19 5456055 5456055 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:5456055G>A uc002mca.3 + 1 630 c.553G>A c.(553-555)GTG>ATG p.V185M NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 185 Extracellular (Potential).|PA. integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) GGCGGCCATCGTGCACAACGT 0.657 ZNF358 140467 broad.mit.edu 37 19 7585009 7585009 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:7585009C>T uc002mgn.2 + 2 1051 c.881C>T c.(880-882)CCG>CTG p.P294L MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 294 C2H2-type 6. embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 TACCCGTGTCCGCAGTGCGGC 0.726 ZNF358 140467 broad.mit.edu 37 19 7585714 7585714 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:7585714A>T uc002mgn.2 + 2 1756 c.1586A>T c.(1585-1587)AAC>ATC p.N529I MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 529 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CCTGATCCCAACCCTGTGTCC 0.657 MCOLN1 57192 broad.mit.edu 37 19 7591756 7591756 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:7591756G>A uc002mgo.2 + 4 640 c.515G>A c.(514-516)CGA>CAA p.R172Q MCOLN1_uc002mgp.2_Missense_Mutation_p.E59K NM_020533 NP_065394 Q9GZU1 MCLN1_HUMAN mucolipin 1 172 ALCQRYYHRGHVDPANDTFDIDPMVVTD -> LSASGTTTE ATWTRPTTHLTLIRWWLLVN (in Ref. 3; AAG42242). calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(1) 1 TACTACCACCGAGGCCACGTG 0.607 PNPLA6 10908 broad.mit.edu 37 19 7607555 7607555 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:7607555G>A uc010xjq.1 + 13 1583 c.1388G>A c.(1387-1389)CGG>CAG p.R463Q PNPLA6_uc002mgq.1_Missense_Mutation_p.R415Q|PNPLA6_uc010xjp.1_Missense_Mutation_p.R415Q|PNPLA6_uc002mgr.1_Missense_Mutation_p.R415Q|PNPLA6_uc002mgs.2_Missense_Mutation_p.R454Q NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 454 Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 GCCCCCGCTCGGGTAAGGCTT 0.701 EVI5L 115704 broad.mit.edu 37 19 7911452 7911452 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:7911452C>T uc002min.2 + 2 178 c.24C>T c.(22-24)CCC>CCT p.P8P EVI5L_uc010xjz.1_Silent_p.P8P NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform 8 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 CTCTGAGCCCCGACTCCTCAT 0.662 CD320 51293 broad.mit.edu 37 19 8369983 8369983 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:8369983C>T uc002mjj.1 - 2 265 c.200G>A c.(199-201)TGC>TAC p.C67Y CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Intron NM_016579 NP_057663 Q9NPF0 CD320_HUMAN 8D6 antigen isoform 1 precursor 67 Extracellular (Potential).|LDL-receptor class A 1. regulation of cell growth endoplasmic reticulum|integral to membrane growth factor activity 0 GAGGGGCACGCATAAGCCACT 0.647 HNRNPM 4670 broad.mit.edu 37 19 8550759 8550759 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:8550759G>A uc010dwe.2 + 14 1527 c.1447G>A c.(1447-1449)GTG>ATG p.V483M HNRNPM_uc010xke.1_Missense_Mutation_p.V429M|HNRNPM_uc010dwd.2_Missense_Mutation_p.V444M|HNRNPM_uc002mka.2_Missense_Mutation_p.V348M|HNRNPM_uc002mkb.1_5'Flank NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 483 27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|12. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 TGGCTCTGGCGTGGAGCGCAT 0.677 MBD3L1 85509 broad.mit.edu 37 19 8953929 8953929 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:8953929A>T uc002mko.2 + 1 661 c.575A>T c.(574-576)GAA>GTA p.E192V NM_145208 NP_660209 Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 GGCCGTCCTGAAAAACGCTAA 0.423 MUC16 94025 broad.mit.edu 37 19 8993496 8993496 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:8993496G>A uc002mkp.2 - 66 41797 c.41593C>T c.(41593-41595)CGC>TGC p.R13865C MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.R682C|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13868 Extracellular (Potential).|SEA 12. 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 GGGTCAGGGCGGTGGGTGCAG 0.592 MUC16 94025 broad.mit.edu 37 19 9000464 9000464 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:9000464G>A uc002mkp.2 - 54 40724 c.40520C>T c.(40519-40521)ACG>ATG p.T13507M MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.T324M|MUC16_uc010xki.1_RNA NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13509 SEA 10.|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 GACTCTCTCCGTGGTGTTAAA 0.507 ICAM1 3383 broad.mit.edu 37 19 10385679 10385679 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:10385679A>G uc002mnq.2 + 2 625 c.306A>G c.(304-306)ACA>ACG p.T102T ICAM1_uc010xle.1_Intron NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 102 Extracellular (Potential).|Ig-like C2-type 1. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) GGCAGTCAACAGCTAAAACCT 0.557 FDX1L 112812 broad.mit.edu 37 19 10421567 10421567 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:10421567A>G uc002mny.1 - 4 376 c.357T>C c.(355-357)AGT>AGC p.S119S ZGLP1_uc002mnw.3_5'Flank|FDX1L_uc002mnx.1_RNA NM_001031734 NP_001026904 Q6P4F2 ADXL_HUMAN ferredoxin 1-like precursor 119 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) GGTGGTCTTCACTCACATACA 0.632 TYK2 7297 broad.mit.edu 37 19 10463634 10463634 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:10463634G>A uc002moc.3 - 22 3546 c.3168C>T c.(3166-3168)CGC>CGT p.R1056R TYK2_uc010dxe.2_Silent_p.R871R NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 1056 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CCTCGCGCACGCGGTAGTACT 0.657 TYK2 7297 broad.mit.edu 37 19 10463657 10463657 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:10463657G>A uc002moc.3 - 22 3523 c.3145C>T c.(3145-3147)CCC>TCC p.P1049S TYK2_uc010dxe.2_Missense_Mutation_p.P864S NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 1049 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) TGGCCTTCGGGCACGGCCTTG 0.662 DNM2 1785 broad.mit.edu 37 19 10893692 10893692 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:10893692C>T uc002mps.1 + 6 909 c.745C>T c.(745-747)CGT>TGT p.R249C DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.R249C|DNM2_uc002mpv.1_Missense_Mutation_p.R249C|DNM2_uc002mpu.1_Missense_Mutation_p.R249C|DNM2_uc010dxl.1_Missense_Mutation_p.R249C|DNM2_uc002mpw.2_5'UTR NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 249 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) GAAGGACATCCGTGCAGCACT 0.607 KANK2 25959 broad.mit.edu 37 19 11289278 11289278 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:11289278C>T uc010dxv.2 - 7 1926 c.1368G>A c.(1366-1368)GAG>GAA p.E456E KANK2_uc002mqm.2_Silent_p.E456E|KANK2_uc002mqo.3_Silent_p.E456E|KANK2_uc002mqp.1_Silent_p.E265E NM_015493 NP_056308 Q63ZY3 KANK2_HUMAN ankyrin repeat domain 25 isoform 1 456 0 GCCTGGTGGGCTCCCTGTGGG 0.692 CCDC159 126075 broad.mit.edu 37 19 11465355 11465355 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:11465355G>A uc010xlw.1 + 11 1200 c.1121G>A c.(1120-1122)GGC>GAC p.G374D CCDC159_uc010xlt.1_Missense_Mutation_p.G291D|LPPR2_uc002mre.1_5'Flank|LPPR2_uc002mrf.1_5'Flank NM_001080503 NP_001073972 P0C7I6 CC159_HUMAN coiled-coil domain-containing-like 406 ovary(1) 1 AGCAAGAGCGGCCGCTCCTTC 0.647 ELAVL3 1995 broad.mit.edu 37 19 11577437 11577437 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:11577437C>T uc002mry.1 - 2 595 c.215G>A c.(214-216)CGG>CAG p.R72Q ELAVL3_uc002mrx.1_Missense_Mutation_p.R72Q NM_001420 NP_001411 Q14576 ELAV3_HUMAN ELAV-like protein 3 isoform 1 72 RRM 1. cell differentiation|nervous system development AU-rich element binding|nucleotide binding ovary(1)|breast(1)|skin(1) 3 GATCTTGTCCCGAACCAACTT 0.562 ZNF653 115950 broad.mit.edu 37 19 11598444 11598444 + Silent SNP G G A rs142746343 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:11598444G>A uc002mrz.1 - 4 887 c.834C>T c.(832-834)TGC>TGT p.C278C NM_138783 NP_620138 Q96CK0 ZN653_HUMAN zinc finger protein 653 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCACCGGCACGCACACCACTG 0.677 ACP5 54 broad.mit.edu 37 19 11687248 11687248 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:11687248C>T uc002msg.3 - 4 691 c.545G>A c.(544-546)CGC>CAC p.R182H ACP5_uc002msh.3_Missense_Mutation_p.R182H|ACP5_uc002msi.3_Missense_Mutation_p.R182H|ACP5_uc002msj.3_Missense_Mutation_p.R182H NM_001611 NP_001602 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 182 water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding central_nervous_system(1) 1 CAGCTGTGTGCGGGCCAGCTT 0.612 WDR83 84292 broad.mit.edu 37 19 12783928 12783928 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:12783928C>T uc002mue.3 + 9 1016 c.681C>T c.(679-681)GGC>GGT p.G227G WDR83_uc002muc.2_RNA|WDR83_uc010dyw.2_Silent_p.G227G NM_001099737 NP_001093207 Q9BRX9 WDR83_HUMAN mitogen-activated protein kinase organizer 1 227 WD 5. nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|cytoplasm lung(1)|breast(1) 2 AGCTGCTGGGCGAGTGAGTCC 0.637 FBXW9 84261 broad.mit.edu 37 19 12800607 12800607 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:12800607C>T uc010dyx.2 - 7 1174 c.1174G>A c.(1174-1176)GCC>ACC p.A392T FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Missense_Mutation_p.A372T|FBXW9_uc002mun.1_Missense_Mutation_p.A209T NM_032301 NP_115677 Q5XUX1 FBXW9_HUMAN F-box and WD-40 domain protein 9 402 WD 5. protein binding ovary(1) 1 TTGCGGTTGGCGAAGACGTGC 0.647 JUNB 3726 broad.mit.edu 37 19 12902771 12902771 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:12902771C>T uc002mvc.2 + 1 462 c.186C>T c.(184-186)GGC>GGT p.G62G JUNB_uc002mvb.2_RNA NM_002229 NP_002220 P17275 JUNB_HUMAN jun B proto-oncogene 62 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity lung(2)|central_nervous_system(1) 3 GCCCAGAGGGCGGCGGTGGCG 0.652 DAND5 199699 broad.mit.edu 37 19 13080609 13080609 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:13080609A>G uc002mwc.1 + 1 178 c.135A>G c.(133-135)CCA>CCG p.P45P DAND5_uc010dyz.1_Silent_p.P75P NM_152654 NP_689867 Q8N907 DAND5_HUMAN dante precursor 45 extracellular region ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(19;1.87e-18) CTCTGGGCCCAGGGGCCCTGC 0.677 CACNA1A 773 broad.mit.edu 37 19 13414693 13414693 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:13414693C>T uc010dze.2 - 16 2231 c.1995G>A c.(1993-1995)CTG>CTA p.L665L CACNA1A_uc010dzc.2_Silent_p.L190L|CACNA1A_uc002mwy.3_Silent_p.L664L|CACNA1A_uc010xne.1_Silent_p.L190L NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 665 Extracellular (Potential).|II. 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) CTTCGCCCGTCAGGATCTGAA 0.602 CCDC105 126402 broad.mit.edu 37 19 15133898 15133898 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:15133898G>A uc002nae.2 + 7 1566 c.1467G>A c.(1465-1467)CCG>CCA p.P489P NM_173482 NP_775753 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 489 microtubule cytoskeleton organization microtubule ovary(1) 1 CGCGCACGCCGCCGCCGCGCA 0.711 C19orf44 84167 broad.mit.edu 37 19 16620476 16620476 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:16620476G>A uc002neh.1 + 5 1389 c.1316G>A c.(1315-1317)AGC>AAC p.S439N MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S439N|C19orf44_uc002neg.2_Missense_Mutation_p.S439N|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 439 0 CTCAGTGCCAGCTCGGCTTCT 0.612 SLC27A1 376497 broad.mit.edu 37 19 17597507 17597507 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:17597507C>T uc002ngu.1 + 2 353 c.303C>T c.(301-303)GGC>GGT p.G101G SLC27A1_uc002ngt.1_Intron|SLC27A1_uc010xpp.1_5'UTR NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN solute carrier family 27, member 1 101 Cytoplasmic (Potential). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding 0 CCGGGACCGGCGAGTGCTGGA 0.697 FAM129C 199786 broad.mit.edu 37 19 17641670 17641670 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:17641670C>A uc010xpr.1 + 3 393 c.255C>A c.(253-255)ACC>ACA p.T85T FAM129C_uc010xpq.1_Silent_p.T85T|FAM129C_uc010xps.1_Silent_p.T54T|FAM129C_uc010xpt.1_Intron NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 85 0 AGGAGCCGACCGGAAGCCAGT 0.632 UNC13A 23025 broad.mit.edu 37 19 17752292 17752292 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:17752292G>C uc002nhd.2 - 21 2810 c.2810C>G c.(2809-2811)GCC>GGC p.A937G NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 849 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 AACCTTCCAGGCATCGTCACC 0.547 UNC13A 23025 broad.mit.edu 37 19 17785510 17785510 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:17785510G>A uc002nhd.2 - 4 372 c.372C>T c.(370-372)ATC>ATT p.I124I NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 36 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 CCCGCACCGCGATGGTCGTGC 0.592 SFRS14 10147 broad.mit.edu 37 19 19135651 19135651 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:19135651G>A uc002nkx.2 - 3 1652 c.1506C>T c.(1504-1506)GTC>GTT p.V502V SFRS14_uc002nkz.1_Silent_p.V516V|SFRS14_uc002nla.1_Silent_p.V502V|SFRS14_uc002nlb.2_Silent_p.V502V|SFRS14_uc010xqk.1_Silent_p.V271V NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 502 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) CTTGCAGGCCGACAGCTTCTA 0.507 TSSK6 83983 broad.mit.edu 37 19 19625628 19625628 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:19625628G>A uc002nmr.2 - 1 842 c.609C>T c.(607-609)TAC>TAT p.Y203Y TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank NM_032037 NP_114426 Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 203 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity stomach(1) 1 TGACCATGACGTAGAGCACGA 0.662 CILP2 148113 broad.mit.edu 37 19 19655446 19655446 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:19655446C>T uc002nmv.3 + 8 2177 c.2092C>T c.(2092-2094)CGG>TGG p.R698W CILP2_uc002nmw.3_Missense_Mutation_p.R704W NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 698 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 GAGCGGCTTCCGGCGCGAGGG 0.706 ZNF208 7757 broad.mit.edu 37 19 22157258 22157258 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:22157258C>A uc002nqp.2 - 4 727 c.578G>T c.(577-579)AGA>ATA p.R193I 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) AGTATAAATTCTTTTATGTTG 0.353 ZNF507 22847 broad.mit.edu 37 19 32845589 32845589 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:32845589A>G uc002nte.2 + 3 2125 c.1853A>G c.(1852-1854)CAA>CGA p.Q618R ZNF507_uc002ntc.2_Missense_Mutation_p.Q618R|ZNF507_uc010xrn.1_Missense_Mutation_p.Q618R|ZNF507_uc002ntd.2_Missense_Mutation_p.Q618R NM_001136156 NP_001129628 Q8TCN5 ZN507_HUMAN zinc finger protein 507 618 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) GCCCAGTGCCAACCCAACAGC 0.483 UBA2 10054 broad.mit.edu 37 19 34919408 34919408 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:34919408G>T uc002nvk.2 + 1 141 c.71G>T c.(70-72)GGG>GTG p.G24V UBA2_uc010xrx.1_5'UTR|UBA2_uc002nvl.2_5'Flank NM_005499 NP_005490 Q9UBT2 SAE2_HUMAN SUMO-1 activating enzyme subunit 2 24 ATP. protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) CTGGTGGTGGGGGCGGGCGGC 0.746 GRAMD1A 57655 broad.mit.edu 37 19 35510163 35510163 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:35510163C>A uc010xse.1 + 12 1419 c.1282C>A c.(1282-1284)CCC>ACC p.P428T GRAMD1A_uc002nxk.2_Missense_Mutation_p.P421T|GRAMD1A_uc002nxl.2_Missense_Mutation_p.P194T|GRAMD1A_uc010xsf.1_Missense_Mutation_p.P433T|GRAMD1A_uc002nxm.1_RNA|GRAMD1A_uc002nxn.1_Missense_Mutation_p.P43T NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 428 integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GTACACCATCCCCATCAGCAA 0.677 USF2 7392 broad.mit.edu 37 19 35770093 35770093 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:35770093C>T uc002nyq.1 + 10 1084 c.975C>T c.(973-975)AAC>AAT p.N325N USF2_uc010xss.1_3'UTR|USF2_uc002nyr.1_Silent_p.N258N|USF2_uc002nys.1_Silent_p.N127N|USF2_uc002nyt.1_Silent_p.N194N|USF2_uc002nyu.1_Silent_p.N127N|USF2_uc002nyv.1_Silent_p.N119N NM_003367 NP_003358 Q15853 USF2_HUMAN upstream stimulatory factor 2 isoform 1 325 Leucine-zipper. lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) AGAATGAGAACGCCCTGCTTC 0.697 FFAR2 2867 broad.mit.edu 37 19 35940753 35940753 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:35940753T>C uc002nzg.2 + 2 217 c.137T>C c.(136-138)ATC>ACC p.I46T FFAR2_uc010eea.2_Missense_Mutation_p.I46T NM_005306 NP_005297 O15552 FFAR2_HUMAN free fatty acid receptor 2 46 Helical; Name=2; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding central_nervous_system(1) 1 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTGTGCACATCCTCCTGCTG 0.642 UPK1A 11045 broad.mit.edu 37 19 36166831 36166831 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:36166831G>A uc002oaw.2 + 5 558 c.558G>A c.(556-558)TGG>TGA p.W186* UPK1A_uc010eeh.2_Nonsense_Mutation_p.W186*|uc002oax.1_5'Flank NM_007000 NP_008931 O00322 UPK1A_HUMAN uroplakin 1A 186 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) TGTTCCCCTGGCCCCCACTGT 0.622 ZBTB32 27033 broad.mit.edu 37 19 36205601 36205601 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:36205601C>T uc002oay.2 + 2 283 c.73C>T c.(73-75)CGG>TGG p.R25W ZBTB32_uc002oaz.2_RNA NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 25 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) AGCCAGGCTCCGGCCAGCACT 0.632 LRFN3 79414 broad.mit.edu 37 19 36435548 36435548 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:36435548C>T uc002oco.2 + 3 1966 c.1514C>T c.(1513-1515)ACG>ATG p.T505M NM_024509 NP_078785 Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III 505 Extracellular (Potential).|Fibronectin type-III. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane 0 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GACAGCGCCACGGGGCTCACG 0.721 THAP8 199745 broad.mit.edu 37 19 36530862 36530862 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:36530862C>T uc002oda.1 - 2 805 c.260G>A c.(259-261)CGG>CAG p.R87Q uc002ocy.2_Intron|THAP8_uc010xtb.1_Missense_Mutation_p.R44Q|THAP8_uc010xtc.1_Intron NM_152658 NP_689871 Q8NA92 THAP8_HUMAN THAP domain containing 8 87 DNA binding|metal ion binding 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AGGTGGTCCCCGGGAGAAGAT 0.627 ZFP14 57677 broad.mit.edu 37 19 36831891 36831891 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:36831891A>C uc002odx.1 - 4 930 c.837T>G c.(835-837)ACT>ACG p.T279T ZFP14_uc010xtd.1_Silent_p.T280T|ZFP14_uc010eex.1_Silent_p.T279T NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) GTTTCTCACCAGTGTGAATTC 0.433 ZNF420 147923 broad.mit.edu 37 19 37619900 37619900 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:37619900A>G uc002ofl.2 + 5 2222 c.2007A>G c.(2005-2007)AAA>AAG p.K669K NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN zinc finger protein 420 669 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) TCAGTGAGAAATCTTTTGAAT 0.373 ZNF607 84775 broad.mit.edu 37 19 38190550 38190550 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:38190550T>C uc002ohc.1 - 5 1078 c.482A>G c.(481-483)CAG>CGG p.Q161R ZNF607_uc002ohb.1_Missense_Mutation_p.Q160R NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 161 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) ATTAATTTTCTGATGCTTTCT 0.388 RYR1 6261 broad.mit.edu 37 19 38951087 38951087 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:38951087T>C uc002oit.2 + 20 2563 c.2433T>C c.(2431-2433)CAT>CAC p.H811H RYR1_uc002oiu.2_Silent_p.H811H NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 811 Cytoplasmic. 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) CTCCATGCCATGAGGCTGTGC 0.627 ACTN4 81 broad.mit.edu 37 19 39219765 39219765 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:39219765G>A uc002oja.1 + 20 2607 c.2548G>A c.(2548-2550)GCT>ACT p.A850T ACTN4_uc002ojb.1_Missense_Mutation_p.A172T NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 850 A -> T (in Ref. 3; AAC17470). platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCAGGTCATCGCTTCCTTCAA 0.637 ECH1 1891 broad.mit.edu 37 19 39306597 39306597 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:39306597G>A uc002oji.2 - 9 867 c.782C>T c.(781-783)GCG>GTG p.A261V LGALS4_uc002ojg.2_5'Flank|LGALS4_uc010xuj.1_5'Flank|ECH1_uc002ojh.2_Missense_Mutation_p.A141V NM_001398 NP_001389 Q13011 ECH1_HUMAN peroxisomal enoyl-coenzyme A hydratase-like 261 fatty acid beta-oxidation|generation of precursor metabolites and energy mitochondrion|peroxisome enoyl-CoA hydratase activity|isomerase activity|protein binding ovary(1) 1 all_cancers(60;9.36e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) AATCTCGGCCGCCAGCGCTAA 0.617 RINL 126432 broad.mit.edu 37 19 39361234 39361234 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:39361234G>A uc002ojq.2 - 8 1046 c.658C>T c.(658-660)CTC>TTC p.L220F RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Missense_Mutation_p.L334F NM_198445 NP_940847 Q6ZS11 RINL_HUMAN Ras and Rab interactor-like 220 GTPase activator activity pancreas(1) 1 TTCTTGGGGAGCCCAGGACCC 0.592 SELV 348303 broad.mit.edu 37 19 40006574 40006574 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:40006574T>C uc010xvc.1 + 1 822 c.722T>C c.(721-723)ATC>ACC p.I241T NM_182704 NP_874363 P59797 SELV_HUMAN selenoprotein V 241 cell redox homeostasis selenium binding 0 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCGTCGGCCATCTCCTTACAG 0.617 C19orf47 126526 broad.mit.edu 37 19 40832287 40832287 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:40832287G>A uc002oni.3 - 7 658 c.657C>T c.(655-657)ACC>ACT p.T219T C19orf47_uc002ong.2_Silent_p.T78T|C19orf47_uc002onh.2_Silent_p.T152T NM_178830 NP_849152 Q8N9M1 CS047_HUMAN hypothetical protein LOC126526 219 ovary(1)|skin(1) 2 Lung(22;0.000636) TGCGGGGTGTGGTGCCTTTGG 0.652 LTBP4 8425 broad.mit.edu 37 19 41135394 41135394 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:41135394G>A uc002ooh.1 + 34 4814 c.4814G>A c.(4813-4815)CGC>CAC p.R1605H LTBP4_uc002oog.1_Missense_Mutation_p.R1568H|LTBP4_uc002ooi.1_Missense_Mutation_p.R1538H|LTBP4_uc002ooj.1_Missense_Mutation_p.R478H|LTBP4_uc002ool.1_Missense_Mutation_p.R617H|LTBP4_uc010xvp.1_Missense_Mutation_p.R365H NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1605 EGF-like 16. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGCATCTGCCGCCCGGGATTC 0.721 AXL 558 broad.mit.edu 37 19 41759598 41759598 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:41759598C>T uc010ehj.2 + 17 2211 c.2021C>T c.(2020-2022)GCG>GTG p.A674V CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.A665V NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 674 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 CGGGACCTGGCGGCCAGGAAC 0.582 AXL 558 broad.mit.edu 37 19 41763458 41763458 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:41763458G>A uc010ehj.2 + 19 2447 c.2257G>A c.(2257-2259)GTG>ATG p.V753M CYP2F1_uc010xvw.1_Intron|AXL_uc010ehk.2_Missense_Mutation_p.V744M NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 753 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 ATATCCGGGCGTGGAGAACAG 0.567 HNRNPUL1 11100 broad.mit.edu 37 19 41782157 41782157 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:41782157G>A uc002oqb.3 + 5 1029 c.740G>A c.(739-741)CGT>CAT p.R247H CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.R147H|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.R147H|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.R247H|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.R204H|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.R147H|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.R147H|HNRNPUL1_uc010eho.2_Missense_Mutation_p.R147H|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.R147H|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.R103H|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.R147H NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 247 B30.2/SPRY.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 TCAGGAGCCCGTGCCAGCTAT 0.532 B9D2 80776 broad.mit.edu 37 19 41869382 41869382 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:41869382C>T uc002oqj.2 - 2 263 c.43G>A c.(43-45)GGT>AGT p.G15S CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Intron|TMEM91_uc010ehq.2_5'Flank NM_030578 NP_085055 Q9BPU9 B9D2_HUMAN B9 protein domain 2 15 B9. cilium assembly|mitotic prometaphase centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus gamma-tubulin binding ovary(1) 1 TCCGAGAAACCGCTGGCCCCT 0.463 TMEM91 641649 broad.mit.edu 37 19 41888686 41888686 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:41888686T>C uc002oqk.3 + 3 571 c.220T>C c.(220-222)TCC>CCC p.S74P CYP2F1_uc010xvw.1_Intron|TMEM91_uc002oqi.2_Missense_Mutation_p.S74P|TMEM91_uc010ehq.2_Missense_Mutation_p.S74P|TMEM91_uc002oql.2_Missense_Mutation_p.S74P|TMEM91_uc010ehr.2_Missense_Mutation_p.S74P|TMEM91_uc010ehs.2_Missense_Mutation_p.S74P|TMEM91_uc010eht.2_Missense_Mutation_p.S74P|BCKDHA_uc002oqm.3_Intron|TMEM91_uc002oqn.2_Missense_Mutation_p.S74P NM_001098821 NP_001092291 Q6ZNR0 TMM91_HUMAN transmembrane protein 91 isoform a 74 response to biotic stimulus integral to membrane 0 GGACATGTCATCCAGTGACAG 0.557 ARHGEF1 9138 broad.mit.edu 37 19 42406950 42406950 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:42406950C>T uc002orx.2 + 18 1749 c.1640C>T c.(1639-1641)CCG>CTG p.P547L ARHGEF1_uc002ory.2_Missense_Mutation_p.P514L|ARHGEF1_uc002orz.2_Missense_Mutation_p.P385L|ARHGEF1_uc002osa.2_Missense_Mutation_p.P562L|ARHGEF1_uc002osb.2_Missense_Mutation_p.P529L|ARHGEF1_uc002osc.2_Missense_Mutation_p.P301L|ARHGEF1_uc002osd.2_Missense_Mutation_p.P206L|ARHGEF1_uc002ose.2_5'UTR NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 547 DH. 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) GAGAGCCGCCCGCGGTGCCGC 0.587 ZNF574 64763 broad.mit.edu 37 19 42585031 42585031 + Missense_Mutation SNP G G A rs142044419 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:42585031G>A uc002osm.3 + 2 2442 c.2273G>A c.(2272-2274)CGC>CAC p.R758H ZNF574_uc002osk.3_Missense_Mutation_p.R848H NM_022752 NP_073589 Q6ZN55 ZN574_HUMAN zinc finger protein 574 758 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.059) GTGCACCGGCGCATCCACACA 0.637 GSK3A 2931 broad.mit.edu 37 19 42738768 42738768 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:42738768G>A uc002otb.1 - 5 848 c.729C>T c.(727-729)CGC>CGT p.R243R GSK3A_uc002ota.1_Silent_p.R161R|GSK3A_uc002otc.2_RNA NM_019884 NP_063937 P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 243 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity ovary(2)|lung(2) 4 Prostate(69;0.00682) GCTTGATGTCGCGGTGACACA 0.602 ZNF227 7770 broad.mit.edu 37 19 44740652 44740652 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:44740652G>C uc002oyu.2 + 6 2274 c.2069G>C c.(2068-2070)TGT>TCT p.C690S ZNF227_uc010xwu.1_Missense_Mutation_p.C639S|ZNF227_uc002oyv.2_Missense_Mutation_p.C690S|ZNF227_uc010xwv.1_Missense_Mutation_p.C639S|ZNF227_uc010xww.1_Missense_Mutation_p.C611S|ZNF227_uc002oyw.2_Missense_Mutation_p.C662S|ZNF227_uc010ejh.2_Missense_Mutation_p.C683S|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_3'UTR NM_182490 NP_872296 Q86WZ6 ZN227_HUMAN zinc finger protein 227 690 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0435) CCTTACAAATGTGAAGAGTGT 0.453 ZNF229 7772 broad.mit.edu 37 19 44947008 44947008 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:44947008A>G uc002oze.1 - 3 458 c.24T>C c.(22-24)CAT>CAC p.H8H ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.H8H NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN zinc finger protein 229 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 Prostate(69;0.0352) CTCTTTTCTCATGCCTTGAGG 0.473 CLPTM1 1209 broad.mit.edu 37 19 45493718 45493718 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:45493718G>A uc002pai.2 + 10 1213 c.1198G>A c.(1198-1200)GTT>ATT p.V400I CLPTM1_uc010xxf.1_Missense_Mutation_p.V298I|CLPTM1_uc010xxg.1_Missense_Mutation_p.V386I NM_001294 NP_001285 O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane 400 Helical; (Potential). cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane ovary(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CTTCTTCGGCGTTTTCCAGTC 0.597 ZNF296 162979 broad.mit.edu 37 19 45575703 45575703 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:45575703G>A uc002pao.2 - 3 641 c.584C>T c.(583-585)CCG>CTG p.P195L NM_145288 NP_660331 Q8WUU4 ZN296_HUMAN zinc finger protein 296 195 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCCCAGGAGCGGGGCCTCCGG 0.682 KLC3 147700 broad.mit.edu 37 19 45852769 45852769 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:45852769A>G uc002pbf.1 + 8 1167 c.1052A>G c.(1051-1053)GAC>GGC p.D351G KLC3_uc010ejy.1_Missense_Mutation_p.D350G|KLC3_uc002pbg.1_Missense_Mutation_p.D365G NM_177417 NP_803136 Q6P597 KLC3_HUMAN kinesin light chain 3 351 TPR 4. cytoplasm|kinesin complex|microtubule microtubule motor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) AAGTTTGAGGACGTGGAGCGG 0.647 KLC3 147700 broad.mit.edu 37 19 45854275 45854275 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:45854275G>T uc002pbf.1 + 12 1558 c.1443G>T c.(1441-1443)CAG>CAT p.Q481H KLC3_uc010ejy.1_Missense_Mutation_p.Q480H|KLC3_uc002pbg.1_Missense_Mutation_p.Q495H NM_177417 NP_803136 Q6P597 KLC3_HUMAN kinesin light chain 3 481 cytoplasm|kinesin complex|microtubule microtubule motor activity ovary(1) 1 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CTGGGACTCAGGTGAGGGGGA 0.567 CD3EAP 10849 broad.mit.edu 37 19 45912587 45912587 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:45912587G>T uc002pbq.1 + 3 1849 c.1361G>T c.(1360-1362)AGG>ATG p.R454M PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.R456M NM_012099 NP_036231 O15446 RPA34_HUMAN CD3E antigen, epsilon polypeptide associated 454 rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway chromosome|RNA polymerase I transcription factor complex DNA-directed RNA polymerase activity large_intestine(2)|ovary(2) 4 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0251) CCTGAAGCCAGGGCAACTCCG 0.517 PPP5C 5536 broad.mit.edu 37 19 46879730 46879730 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:46879730G>A uc002pem.2 + 4 592 c.532G>A c.(532-534)GGA>AGA p.G178R PPP5C_uc010xya.1_Missense_Mutation_p.G45R|PPP5C_uc002pen.2_Missense_Mutation_p.G178R NM_006247 NP_006238 P53041 PPP5_HUMAN protein phosphatase 5, catalytic subunit 178 mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent Golgi apparatus|nucleus metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity lung(1)|pancreas(1) 2 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504) TGAGTACAGCGGACCCAAGCT 0.537 DHX34 9704 broad.mit.edu 37 19 47883099 47883099 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:47883099C>T uc010xyn.1 + 14 3180 c.2839C>T c.(2839-2841)CGT>TGT p.R947C DHX34_uc010xyo.1_Missense_Mutation_p.R76C NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 947 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCTGCGGCTCCGTGCCCGCTG 0.672 SLC8A2 6543 broad.mit.edu 37 19 47969321 47969321 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:47969321C>T uc002pgx.2 - 2 618 c.340G>A c.(340-342)GGT>AGT p.G114S SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.G114S NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 114 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CTGGTCTCACCGTTGGCCTTG 0.577 KPTN 11133 broad.mit.edu 37 19 47986421 47986421 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:47986421G>A uc002pgy.2 - 4 550 c.446C>T c.(445-447)GCG>GTG p.A149V KPTN_uc010xys.1_RNA|uc002pgz.1_5'Flank NM_007059 NP_008990 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 149 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) CACTCACTCCGCATGGCACAG 0.537 NAPA 8775 broad.mit.edu 37 19 47996224 47996224 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:47996224G>A uc002pha.1 - 7 855 c.555C>T c.(553-555)TAC>TAT p.Y185Y uc002pgz.1_Intron|NAPA_uc002phb.1_Silent_p.Y146Y|NAPA_uc002phc.1_Silent_p.Y72Y|NAPA_uc002phd.1_Silent_p.Y185Y|NAPA_uc010elf.1_Silent_p.Y79Y NM_003827 NP_003818 P54920 SNAA_HUMAN N-ethylmaleimide-sensitive factor attachment 185 cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport cytosol 0 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;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049) CCACCTGTTCGTAGATGTCAA 0.612 FUT2 2524 broad.mit.edu 37 19 49206646 49206646 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:49206646G>A uc002pke.3 + 2 544 c.433G>A c.(433-435)GTC>ATC p.V145I FUT2_uc010emc.2_Missense_Mutation_p.V145I NM_001097638 NP_001091107 Q10981 FUT2_HUMAN fucosyltransferase 2 145 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity central_nervous_system(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) GGGGGAGTACGTCCGCTTCAC 0.657 RASIP1 54922 broad.mit.edu 37 19 49230076 49230076 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:49230076C>T uc002pki.2 - 8 2290 c.2093G>A c.(2092-2094)TGT>TAT p.C698Y RASIP1_uc002pkh.2_5'Flank NM_017805 NP_060275 Q5U651 RAIN_HUMAN Ras-interacting protein 1 698 Dilute. signal transduction Golgi stack|perinuclear region of cytoplasm pancreas(1) 1 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CTGGAAGGTACACATGATGAC 0.493 FUT1 2523 broad.mit.edu 37 19 49253922 49253922 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:49253922C>T uc002pkk.2 - 4 1592 c.617G>A c.(616-618)CGC>CAC p.R206H NM_000148 NP_000139 P19526 FUT1_HUMAN fucosyltransferase 1 206 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to plasma membrane|membrane fraction galactoside 2-alpha-L-fucosyltransferase activity ovary(1) 1 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222) GTCCCCTGTGCGGCCCAGGCG 0.657 PLEKHA4 57664 broad.mit.edu 37 19 49340773 49340773 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:49340773C>T uc002pkx.2 - 20 2664 c.2113G>A c.(2113-2115)GGT>AGT p.G705S HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_3'UTR|PLEKHA4_uc010eml.2_3'UTR NM_020904 NP_065955 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing family A 705 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) AGCGGCACACCGGGAAGAGGG 0.537 PPFIA3 8541 broad.mit.edu 37 19 49641625 49641625 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:49641625G>A uc002pmr.2 + 16 2349 c.2017G>A c.(2017-2019)GGC>AGC p.G673S PPFIA3_uc010yai.1_Intron|PPFIA3_uc010yaj.1_Intron|PPFIA3_uc002pms.2_Missense_Mutation_p.G541S NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 673 cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) TCCCAGCTCTGGCCACTCAAC 0.682 TRPM4 54795 broad.mit.edu 37 19 49692316 49692316 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:49692316G>A uc002pmw.2 + 14 2059 c.1987G>A c.(1987-1989)GCC>ACC p.A663T TRPM4_uc010emu.2_Missense_Mutation_p.A663T|TRPM4_uc010yak.1_Missense_Mutation_p.A127T|TRPM4_uc002pmx.2_Missense_Mutation_p.A489T|TRPM4_uc010emv.2_Missense_Mutation_p.A548T|TRPM4_uc010yal.1_Missense_Mutation_p.A309T|TRPM4_uc002pmy.2_Missense_Mutation_p.A5T NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 663 Cytoplasmic (Potential). dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GCAAGCTGACGCCCGTGCCTT 0.622 PRMT1 3276 broad.mit.edu 37 19 50188254 50188254 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:50188254T>C uc010enf.1 + 8 761 c.719T>C c.(718-720)GTG>GCG p.V240A PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.V216A|PRMT1_uc002ppe.2_Missense_Mutation_p.V222A|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.V187A|PRMT1_uc010yba.1_RNA|PRMT1_uc010ybb.1_5'Flank NM_001536 NP_001527 Q8WUW5 Q8WUW5_HUMAN HMT1 hnRNP methyltransferase-like 2 isoform 1 221 cytoplasm protein methyltransferase activity ovary(1) 1 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;0.00103)|GBM - Glioblastoma multiforme(134;0.012) GTGGATGTCGTGGACCCCAAA 0.592 OREG0025627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PRMT1 3276 broad.mit.edu 37 19 50189419 50189419 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:50189419C>T uc010enf.1 + 9 871 c.829C>T c.(829-831)CGG>TGG p.R277W PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.R253W|PRMT1_uc002ppe.2_Missense_Mutation_p.R259W|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.R224W|PRMT1_uc010yba.1_RNA|PRMT1_uc010ybb.1_5'Flank|C19orf76_uc002pph.2_5'Flank NM_001536 NP_001527 Q8WUW5 Q8WUW5_HUMAN HMT1 hnRNP methyltransferase-like 2 isoform 1 258 cytoplasm protein methyltransferase activity ovary(1) 1 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;0.00103)|GBM - Glioblastoma multiforme(134;0.012) GCAAGTGAAGCGGAATGACTA 0.602 ACPT 93650 broad.mit.edu 37 19 51298304 51298304 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:51298304A>G uc002pta.1 + 11 1170 c.1170A>G c.(1168-1170)CCA>CCG p.P390P NM_033068 NP_149059 Q9BZG2 PPAT_HUMAN testicular acid phosphatase precursor 390 Extracellular (Potential). integral to membrane acid phosphatase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CTGCAGCTCCAGTGGTGCCCC 0.687 SIGLEC9 27180 broad.mit.edu 37 19 51628959 51628959 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:51628959C>A uc002pvu.2 + 2 594 c.527C>A c.(526-528)CCT>CAT p.P176H SIGLEC9_uc010yct.1_Missense_Mutation_p.P176H NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 176 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) GGGACACCCCCTATGATCTCC 0.667 IGLON5 402665 broad.mit.edu 37 19 51826934 51826934 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:51826934C>T uc002pwc.2 + 3 177 c.177C>T c.(175-177)CAC>CAT p.H59H NM_001101372 NP_001094842 A6NGN9 IGLO5_HUMAN IgLON family member 5 precursor 59 Ig-like C2-type 1. extracellular region 0 TCGACGAGCACGTGACCCGCG 0.652 SIGLEC12 89858 broad.mit.edu 37 19 52004970 52004970 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:52004970T>C uc002pwx.1 - 1 74 c.18A>G c.(16-18)CTA>CTG p.L6L SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 6 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) gtggcagcagtagcagcagca 0.453 ZNF321 399669 broad.mit.edu 37 19 53432346 53432346 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:53432346T>G uc010eqj.2 - 4 634 c.464A>C c.(463-465)CAG>CCG p.Q155P ZNF321_uc002qaj.1_Missense_Mutation_p.Q102P|ZNF321_uc002qak.1_Missense_Mutation_p.Q155P NM_203307 NP_976052 zinc finger protein 321 0 GBM - Glioblastoma multiforme(134;0.0305) CCATTCAGGCTGAAATATGTG 0.403 CNOT3 4849 broad.mit.edu 37 19 54652128 54652128 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:54652128C>A uc002qdj.1 + 11 1451 c.1140C>A c.(1138-1140)CCC>CCA p.P380P CNOT3_uc010yel.1_Silent_p.P380P|CNOT3_uc002qdi.2_Silent_p.P293P|CNOT3_uc002qdk.1_Silent_p.P380P|CNOT3_uc010ere.1_RNA|CNOT3_uc002qdl.2_5'Flank NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 380 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CACCAGCTCCCAGTGGGCCCA 0.532 LILRA4 23547 broad.mit.edu 37 19 54848404 54848404 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:54848404A>G uc002qfj.2 - 6 1020 c.963T>C c.(961-963)TCT>TCC p.S321S LILRA4_uc002qfi.2_Silent_p.S255S NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 321 Extracellular (Potential). integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) AGGGTCTGTCAGAGATCTGTC 0.607 LILRB4 11006 broad.mit.edu 37 19 55179347 55179347 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:55179347G>A uc002qgp.2 + 12 1586 c.1224G>A c.(1222-1224)CAG>CAA p.Q408Q LILRB4_uc002qgq.2_Silent_p.Q407Q|LILRB4_uc002qgr.2_Silent_p.Q450Q|LILRB4_uc010ert.2_Silent_p.Q449Q|LILRB4_uc010eru.2_Silent_p.Q438Q NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 408 Cytoplasmic (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) AAGCCCCCCAGGATGTGACCT 0.642 TMEM190 147744 broad.mit.edu 37 19 55889086 55889086 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:55889086G>A uc002qkt.1 + 3 238 c.220G>A c.(220-222)GAA>AAA p.E74K NM_139172 NP_631911 Q8WZ59 TM190_HUMAN transmembrane protein 190 precursor 74 Extracellular (Potential). integral to membrane 0 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GCGTCCAGACGGTGAGGGCTC 0.682 ZSCAN5A 79149 broad.mit.edu 37 19 56736258 56736258 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:56736258G>A uc002qmq.2 - 2 324 c.158C>T c.(157-159)CCG>CTG p.P53L ZSCAN5A_uc010ygi.1_Intron|ZSCAN5A_uc002qmr.2_Missense_Mutation_p.P53L|ZSCAN5A_uc002qms.1_Missense_Mutation_p.P53L NM_024303 NP_077279 Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 53 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 CGACTCCTTCGGGCAGCTGAA 0.552 ZNF667 63934 broad.mit.edu 37 19 56953952 56953952 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:56953952G>A uc002qnd.2 - 5 574 c.412C>T c.(412-414)CAT>TAT p.H138Y ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.H138Y|ZNF667_uc010etm.2_Missense_Mutation_p.H81Y NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 138 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) TTCCCTGAATGCCCTTTCTTA 0.398 ZNF71 58491 broad.mit.edu 37 19 57133564 57133564 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:57133564C>T uc002qnm.3 + 3 1147 c.909C>T c.(907-909)TGC>TGT p.C303C NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 303 C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GCAAGGAGTGCGGCAAGGCCT 0.662 ZNF71 58491 broad.mit.edu 37 19 57133847 57133847 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:57133847A>G uc002qnm.3 + 3 1430 c.1192A>G c.(1192-1194)ATC>GTC p.I398V NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 398 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CTCGTCCCTCATCGTGCACCA 0.632 ZNF835 90485 broad.mit.edu 37 19 57176308 57176308 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:57176308C>A uc010ygo.1 - 2 325 c.325G>T c.(325-327)GGG>TGG p.G109W ZNF835_uc010ygn.1_Missense_Mutation_p.G87W NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 GGGCTCTCCCCAGGCGCGCTG 0.642 PEG3 5178 broad.mit.edu 37 19 57328006 57328006 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:57328006G>A uc002qnu.2 - 7 2155 c.1804C>T c.(1804-1806)CGT>TGT p.R602C ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R573C|PEG3_uc002qnv.2_Missense_Mutation_p.R602C|PEG3_uc002qnw.2_Missense_Mutation_p.R478C|PEG3_uc002qnx.2_Missense_Mutation_p.R476C|PEG3_uc010etr.2_Missense_Mutation_p.R602C NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 602 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) CCGCGCtcacgttcacgttca 0.378 ZNF749 388567 broad.mit.edu 37 19 57956100 57956100 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:57956100G>A uc002qoq.2 + 3 1838 c.1584G>A c.(1582-1584)CAG>CAA p.Q528Q ZNF547_uc002qpm.3_Intron NM_001023561 NP_001018855 O43361 ZN749_HUMAN zinc finger protein 749 528 C2H2-type 12. 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) ACCTAGTTCAGCATGAGAAAA 0.453 ZNF419 79744 broad.mit.edu 37 19 58005254 58005254 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:58005254G>A uc002qov.2 + 5 1569 c.1329G>A c.(1327-1329)ATG>ATA p.M443I ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.M444I|ZNF419_uc010etz.1_Missense_Mutation_p.M431I|ZNF419_uc010eua.1_Missense_Mutation_p.M430I|ZNF419_uc002qow.2_Missense_Mutation_p.M411I|ZNF419_uc010eub.1_Missense_Mutation_p.M398I|ZNF419_uc010euc.1_Missense_Mutation_p.M397I NM_024691 NP_078967 Q96HQ0 ZN419_HUMAN zinc finger protein 419 isoform 2 443 C2H2-type 9. 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) CAACCCTCATGCAACATCGAA 0.423 ZNF549 256051 broad.mit.edu 37 19 58048899 58048899 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:58048899C>A uc002qpb.1 + 4 776 c.527C>A c.(526-528)CCT>CAT p.P176H ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF549_uc002qpa.1_Missense_Mutation_p.P163H NM_153263 NP_694995 Q6P9A3 ZN549_HUMAN zinc finger protein 549 176 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;0.026) TGCAAAATTCCTCTGTCAGAC 0.473 ZNF417 147687 broad.mit.edu 37 19 58420052 58420052 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:58420052A>G uc002qqq.2 - 3 1793 c.1594T>C c.(1594-1596)TGT>CGT p.C532R ZNF417_uc010yhm.1_Missense_Mutation_p.C489R|ZNF417_uc002qqr.2_Missense_Mutation_p.C531R NM_152475 NP_689688 Q8TAU3 ZN417_HUMAN zinc finger protein 417 532 C2H2-type 12. 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)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151) AGACTGGAACATTCAGCAAAG 0.398 ZNF132 7691 broad.mit.edu 37 19 58946192 58946192 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:58946192G>T uc002qst.3 - 3 1020 c.619C>A c.(619-621)CTC>ATC p.L207I NM_003433 NP_003424 P52740 ZN132_HUMAN zinc finger protein 132 207 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) AGCTGGAGGAGGTCACAGCTG 0.527 TRIM28 10155 broad.mit.edu 37 19 59058826 59058826 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:59058826T>C uc002qtg.1 + 4 959 c.670T>C c.(670-672)TGT>CGT p.C224R TRIM28_uc010eut.1_Missense_Mutation_p.C142R|TRIM28_uc002qth.1_5'Flank NM_005762 NP_005753 Q13263 TIF1B_HUMAN tripartite motif-containing 28 protein 224 RBCC domain.|B box-type 2. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 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;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TTGTGAGAGCTGTGATACTCT 0.567 TPO 7173 broad.mit.edu 37 2 1418179 1418179 + Splice_Site SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:1418179G>T uc002qww.2 + 2 91 c.0_splice c.e2-1 TPO_uc010ewj.2_Intron|TPO_uc010yin.1_Splice_Site|TPO_uc002qwu.2_Splice_Site|TPO_uc002qwr.2_Splice_Site|TPO_uc002qwx.2_Splice_Site|TPO_uc010yio.1_5'Flank|TPO_uc010yip.1_5'Flank NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GTTAATTTTAGAATGAGAGCG 0.532 MYT1L 23040 broad.mit.edu 37 2 1890322 1890322 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:1890322G>T uc002qxe.2 - 18 3527 c.2700C>A c.(2698-2700)TCC>TCA p.S900S MYT1L_uc002qxd.2_Silent_p.S898S|MYT1L_uc010ewl.1_RNA NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 900 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|central_nervous_system(1) 6 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TGAGTTCTTGGGAGCTGGTGG 0.433 COLEC11 78989 broad.mit.edu 37 2 3691067 3691067 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:3691067C>A uc002qya.2 + 6 510 c.362C>A c.(361-363)GCC>GAC p.A121D COLEC11_uc002qxz.2_Missense_Mutation_p.A118D|COLEC11_uc002qyb.2_Missense_Mutation_p.A97D|COLEC11_uc002qyc.2_Missense_Mutation_p.A97D|COLEC11_uc010ewo.2_Missense_Mutation_p.A73D|COLEC11_uc010ewp.2_Missense_Mutation_p.A95D|COLEC11_uc010ewq.2_Missense_Mutation_p.A71D|COLEC11_uc010ewr.2_Missense_Mutation_p.A71D|COLEC11_uc010ews.2_Missense_Mutation_p.A47D NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 121 Potential. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) CTGCGCAAGGCCATCGGGGAG 0.637 NBAS 51594 broad.mit.edu 37 2 15415814 15415814 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:15415814T>C uc002rcc.1 - 44 5544 c.5518A>G c.(5518-5520)ATG>GTG p.M1840V NBAS_uc010exl.1_Missense_Mutation_p.M912V|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1840 ovary(2)|liver(1)|skin(1) 4 GGGGAAAGCATCTGTCCATCC 0.443 NBAS 51594 broad.mit.edu 37 2 15601418 15601418 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:15601418C>T uc002rcc.1 - 21 2272 c.2246G>A c.(2245-2247)GGT>GAT p.G749D NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 749 ovary(2)|liver(1)|skin(1) 4 CAGGTCGGAACCATGGTAAGT 0.418 RAD51AP2 729475 broad.mit.edu 37 2 17698684 17698684 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:17698684T>C uc002rcl.1 - 1 1023 c.999A>G c.(997-999)TCA>TCG p.S333S RAD51AP2_uc010exn.1_Silent_p.S324S NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 333 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GGCTACTGAGTGATGGGTAGT 0.323 OSR1 130497 broad.mit.edu 37 2 19552979 19552979 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:19552979C>T uc002rdc.2 - 2 891 c.588G>A c.(586-588)ACG>ACA p.T196T NM_145260 NP_660303 Q8TAX0 OSR1_HUMAN odd-skipped related 1 196 C2H2-type 1. chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) CGTCGGTGTGCGTCCGCTCAT 0.592 C2orf39 92749 broad.mit.edu 37 2 26671649 26671649 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:26671649T>C uc002rhg.2 + 11 1561 c.1487T>C c.(1486-1488)CTG>CCG p.L496P NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 496 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGAGGATCCTGATGCTCCTG 0.597 OTOF 9381 broad.mit.edu 37 2 26683839 26683839 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:26683839T>C uc002rhk.2 - 44 5720 c.5593A>G c.(5593-5595)ACC>GCC p.T1865A OTOF_uc010yla.1_Missense_Mutation_p.T595A|OTOF_uc002rhh.2_Missense_Mutation_p.T1098A|OTOF_uc002rhi.2_Missense_Mutation_p.T1175A|OTOF_uc002rhj.2_Missense_Mutation_p.T1098A NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1865 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCTCCATGGTGCACTGCTTG 0.632 OTOF 9381 broad.mit.edu 37 2 26693574 26693574 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:26693574C>T uc002rhk.2 - 32 4037 c.3910G>A c.(3910-3912)GAG>AAG p.E1304K OTOF_uc010yla.1_Missense_Mutation_p.E34K|OTOF_uc002rhh.2_Missense_Mutation_p.E537K|OTOF_uc002rhi.2_Missense_Mutation_p.E614K|OTOF_uc002rhj.2_Missense_Mutation_p.E537K NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1304 Cytoplasmic (Potential).|Poly-Lys. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ttcttcttctccttctcctcc 0.512 OTOF 9381 broad.mit.edu 37 2 26696067 26696067 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:26696067G>A uc002rhk.2 - 29 3793 c.3666C>T c.(3664-3666)GCC>GCT p.A1222A OTOF_uc010yla.1_5'UTR|OTOF_uc002rhh.2_Silent_p.A475A|OTOF_uc002rhi.2_Silent_p.A532A|OTOF_uc002rhj.2_Silent_p.A475A NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 1222 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGAGCTGACGGCATGGGAGC 0.672 C2orf53 339779 broad.mit.edu 37 2 27361028 27361028 + Missense_Mutation SNP C C T rs149337790 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:27361028C>T uc002rjb.2 - 3 750 c.170G>A c.(169-171)CGT>CAT p.R57H NM_178553 NP_848648 Q53SZ7 CB053_HUMAN hypothetical protein LOC339779 57 Pro-rich. 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAGGGACGACGGGACTGAGT 0.562 CAD 790 broad.mit.edu 37 2 27459279 27459279 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:27459279G>T uc002rji.2 + 26 4364 c.4202G>T c.(4201-4203)GGG>GTG p.G1401V CAD_uc010eyw.2_Missense_Mutation_p.G1338V NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 1401 CPSase B.|CPSase (Carbamoyl-phosphate synthase). '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) CGTGGAGCTGGGGGCCGGCGT 0.572 UCN 7349 broad.mit.edu 37 2 27530432 27530432 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:27530432C>T uc002rjp.1 - 2 448 c.332G>A c.(331-333)CGC>CAC p.R111H NM_003353 NP_003344 P55089 UCN1_HUMAN urocortin preproprotein 111 extracellular region neuropeptide hormone activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGCTCGGCGCGCTCCCGCTG 0.652 IFT172 26160 broad.mit.edu 37 2 27684208 27684208 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:27684208C>A uc002rku.2 - 22 2421 c.2370G>T c.(2368-2370)GAG>GAT p.E790D NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 790 cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) CTAGCAGTTCCTCTCGGGTCA 0.562 GALNT14 79623 broad.mit.edu 37 2 31215790 31215790 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:31215790G>A uc002rnr.2 - 2 832 c.213C>T c.(211-213)GAC>GAT p.D71D GALNT14_uc002rnq.2_Silent_p.D51D|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Silent_p.D36D|GALNT14_uc010ezo.1_Silent_p.D71D|GALNT14_uc010ezp.1_Silent_p.D42D NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 71 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) TATAGGGGTCGTCACCAACGC 0.577 VIT 5212 broad.mit.edu 37 2 37008909 37008909 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:37008909A>G uc002rpl.2 + 10 1063 c.842A>G c.(841-843)GAT>GGT p.D281G VIT_uc002rpm.2_Intron|VIT_uc010ezv.2_Intron|VIT_uc010ezw.2_Intron NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) GTCCTTTTAGATGAAGGTAAT 0.433 CEBPZ 10153 broad.mit.edu 37 2 37450518 37450518 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:37450518G>A uc002rpz.2 - 3 1706 c.1676C>T c.(1675-1677)ACG>ATG p.T559M NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 559 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) CTTGGAACACGTCATCAACCC 0.393 SLC3A1 6519 broad.mit.edu 37 2 44539884 44539884 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:44539884T>C uc002ruc.3 + 8 1570 c.1492T>C c.(1492-1494)TAT>CAT p.Y498H SLC3A1_uc002rtz.2_Missense_Mutation_p.Y498H|SLC3A1_uc002rua.2_Missense_Mutation_p.Y498H|SLC3A1_uc002rub.2_Missense_Mutation_p.Y498H|SLC3A1_uc002rud.3_Missense_Mutation_p.Y220H|SLC3A1_uc002rue.3_Missense_Mutation_p.Y118H NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 498 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) CAATGAAAGCTATGATATTGT 0.333 EPAS1 2034 broad.mit.edu 37 2 46611727 46611727 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:46611727C>T uc002ruv.2 + 16 3029 c.2541C>T c.(2539-2541)AAC>AAT p.N847N EPAS1_uc002ruw.2_Silent_p.N313N NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 847 CTAD. N -> K (in Ref. 2; AAC51212). angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) GTGAGGTGAACGTGCCCGTGC 0.622 FBXO11 80204 broad.mit.edu 37 2 48050427 48050427 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:48050427T>C uc010fbl.2 - 12 1333 c.1219A>G c.(1219-1221)ACA>GCA p.T407A FBXO11_uc002rwe.2_Missense_Mutation_p.T407A|FBXO11_uc002rwf.2_Missense_Mutation_p.T407A|FBXO11_uc002rwg.1_Missense_Mutation_p.T407A|FBXO11_uc010fbk.2_5'UTR NM_025133 NP_079409 Q86XK2 FBX11_HUMAN F-box only protein 11 isoform 1 491 PbH1 5. ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CGAACCACTGTAGGGTTAGCA 0.358 KLRAQ1 129285 broad.mit.edu 37 2 48701860 48701860 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:48701860C>T uc002rwm.2 + 12 1312 c.1127C>T c.(1126-1128)GCG>GTG p.A376V KLRAQ1_uc002rwj.2_Missense_Mutation_p.A376V|KLRAQ1_uc002rwl.2_Missense_Mutation_p.A330V|KLRAQ1_uc002rwk.2_Missense_Mutation_p.A376V|KLRAQ1_uc010yok.1_Missense_Mutation_p.A376V NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN KLRAQ motif containing 1 isoform 1 376 ovary(1) 1 TGCACATCTGCGTTAAGAGCC 0.413 PSME4 23198 broad.mit.edu 37 2 54127128 54127128 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:54127128C>T uc002rxp.2 - 29 3368 c.3312G>A c.(3310-3312)GCG>GCA p.A1104A PSME4_uc010yop.1_Silent_p.A990A|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.A479A|PSME4_uc010fbv.1_Silent_p.A248A NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 1104 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) GAAGTAATTCCGCTATTTCAA 0.274 PSME4 23198 broad.mit.edu 37 2 54150493 54150493 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:54150493G>A uc002rxp.2 - 15 1929 c.1873C>T c.(1873-1875)CGC>TGC p.R625C PSME4_uc010yop.1_Missense_Mutation_p.R511C|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator 625 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) GCCACCATGCGACCTGCTACT 0.338 REL 5966 broad.mit.edu 37 2 61118941 61118941 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:61118941G>A uc002sam.1 + 2 358 c.134G>A c.(133-135)CGA>CAA p.R45Q REL_uc002san.1_Missense_Mutation_p.R45Q NM_002908 NP_002899 Q04864 REL_HUMAN v-rel reticuloendotheliosis viral oncogene 45 RHD. positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) GACAACAACCGAACATACCCT 0.433 A Hodgkin Lymphoma PROKR1 10887 broad.mit.edu 37 2 68882559 68882559 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:68882559G>A uc010yqj.1 + 2 1033 c.1033G>A c.(1033-1035)GTC>ATC p.V345I PROKR1_uc002ses.2_RNA NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN G protein-coupled receptor 73 345 Cytoplasmic (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(1) 1 CTTCGTGACCGTCAAGAACGA 0.502 ADD2 119 broad.mit.edu 37 2 70923451 70923451 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:70923451G>A uc002sgz.2 - 5 865 c.400C>T c.(400-402)CGG>TGG p.R134W ADD2_uc010fds.1_RNA|ADD2_uc002sgy.2_Missense_Mutation_p.R134W|ADD2_uc002sha.2_Missense_Mutation_p.R134W|ADD2_uc002sgx.2_Missense_Mutation_p.R134W|ADD2_uc010fdt.1_Missense_Mutation_p.R134W|ADD2_uc002shc.1_Missense_Mutation_p.R134W|ADD2_uc002shd.1_Missense_Mutation_p.R134W|ADD2_uc010fdu.1_Missense_Mutation_p.R150W NM_001617 NP_001608 P35612 ADDB_HUMAN adducin 2 isoform a 134 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding ovary(2)|pancreas(1) 3 ATCTTGCACCGCATGAGCCGC 0.572 NAT8 9027 broad.mit.edu 37 2 73868563 73868563 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:73868563C>T uc002sji.1 - 2 360 c.193G>A c.(193-195)GTG>ATG p.V65M NM_003960 NP_003951 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 65 Helical; (Potential).|N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity ovary(1) 1 ATGCTGAACACGAGGGCTAGA 0.552 LBX2 85474 broad.mit.edu 37 2 74725186 74725186 + Silent SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:74725186G>C uc002slv.3 - 2 470 c.465C>G c.(463-465)CGC>CGG p.R155R LBX2_uc002slw.2_Silent_p.R151R NM_001009812 NP_001009812 Q6XYB7 LBX2_HUMAN ladybird homeobox 2 155 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGGACAACGCGCGTAGCGAGG 0.697 LOXL3 84695 broad.mit.edu 37 2 74777345 74777345 + Silent SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:74777345G>C uc002smp.1 - 3 516 c.444C>G c.(442-444)CGC>CGG p.R148R LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Silent_p.R148R|LOXL3_uc002smq.1_Silent_p.R148R|LOXL3_uc010ffn.1_Silent_p.R148R|DOK1_uc002smr.2_Intron NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 148 extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 AGCCAGGGAGGCGCTGGTCTT 0.567 CTNNA2 1496 broad.mit.edu 37 2 80101333 80101333 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:80101333C>T uc010ysh.1 + 5 722 c.717C>T c.(715-717)AAC>AAT p.N239N CTNNA2_uc010yse.1_Silent_p.N239N|CTNNA2_uc010ysf.1_Silent_p.N239N|CTNNA2_uc010ysg.1_Silent_p.N239N NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 239 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 CGAGAGCCAACCGAGATTATG 0.592 CTNNA2 1496 broad.mit.edu 37 2 80801404 80801404 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:80801404G>A uc010ysh.1 + 12 1863 c.1858G>A c.(1858-1860)GTT>ATT p.V620I CTNNA2_uc010yse.1_Missense_Mutation_p.V620I|CTNNA2_uc010ysf.1_Missense_Mutation_p.V620I|CTNNA2_uc010ysg.1_Missense_Mutation_p.V620I|CTNNA2_uc010ysi.1_Missense_Mutation_p.V252I NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 620 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GTATGATGGCGTTCGGGACAT 0.502 PROM2 150696 broad.mit.edu 37 2 95952569 95952569 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:95952569C>T uc002suh.1 + 18 2191 c.2058C>T c.(2056-2058)AGC>AGT p.S686S PROM2_uc002sui.2_Silent_p.S686S|PROM2_uc002suj.2_Silent_p.S340S|PROM2_uc002suk.2_Silent_p.S686S|PROM2_uc002sul.2_Silent_p.S212S|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 686 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 TCAACCTCAGCGTCAGGGCCC 0.448 CIAO1 9391 broad.mit.edu 37 2 96936850 96936850 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:96936850T>C uc002svs.2 + 7 986 c.781T>C c.(781-783)TGT>CGT p.C261R NM_004804 NP_004795 O76071 CIAO1_HUMAN WD repeat domain 39 261 WD 6. chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter MMXD complex protein binding 0 TCCTTCCAGGTGTCAGCTGAC 0.557 REV1 51455 broad.mit.edu 37 2 100055712 100055712 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:100055712A>G uc002tad.2 - 6 776 c.564T>C c.(562-564)AGT>AGC p.S188S REV1_uc002tac.2_Silent_p.S188S|REV1_uc002tae.1_Silent_p.S167S NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 188 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 CTTCATTCCAACTGTTCATGC 0.373 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage IL18R1 8809 broad.mit.edu 37 2 102984300 102984300 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:102984300G>A uc002tbw.3 + 3 224 c.74G>A c.(73-75)CGT>CAT p.R25H IL18R1_uc010ywb.1_Missense_Mutation_p.R25H|IL18R1_uc010ywc.1_Missense_Mutation_p.R25H|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.R25H NM_003855 NP_003846 Q13478 IL18R_HUMAN interleukin 18 receptor 1 precursor 25 Extracellular (Potential). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity ovary(2)|pancreas(1) 3 TGTACTTCACGTCCCCACATT 0.353 SLC9A4 389015 broad.mit.edu 37 2 103136407 103136407 + Missense_Mutation SNP G G A rs144537340 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:103136407G>A uc002tbz.3 + 9 2268 c.1811G>A c.(1810-1812)CGG>CAG p.R604Q NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 604 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 TACCAAGTTCGGCAAAGGGTG 0.468 POU3F3 5455 broad.mit.edu 37 2 105473227 105473227 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:105473227C>T uc010ywg.1 + 1 1259 c.1259C>T c.(1258-1260)GCG>GTG p.A420V NM_006236 NP_006227 P20264 PO3F3_HUMAN POU class 3 homeobox 3 420 Homeobox. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding ovary(1) 1 GTCAAGGGCGCGCTGGAGAGC 0.662 RANBP2 5903 broad.mit.edu 37 2 109381510 109381510 + Silent SNP G G A rs140837223 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:109381510G>A uc002tem.3 + 20 4641 c.4515G>A c.(4513-4515)CCG>CCA p.P1505P NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1505 RanBP2-type 3. 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 GTCAGAATCCGAGAAAACAGA 0.403 POLR1B 84172 broad.mit.edu 37 2 113332867 113332867 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:113332867C>T uc002thw.2 + 15 3549 c.2969C>T c.(2968-2970)GCA>GTA p.A990V POLR1B_uc010fkn.2_Missense_Mutation_p.A934V|POLR1B_uc002thx.2_Missense_Mutation_p.A851V|POLR1B_uc010fko.2_Missense_Mutation_p.A807V|POLR1B_uc010fkp.2_Missense_Mutation_p.A429V|POLR1B_uc010yxn.1_Missense_Mutation_p.A1028V|POLR1B_uc002thy.2_Missense_Mutation_p.A851V|POLR1B_uc010yxo.1_Missense_Mutation_p.A767V NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN RNA polymerase I polypeptide B isoform 1 990 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 GAACTGGAAGCAGACATCTTC 0.458 PAX8 7849 broad.mit.edu 37 2 114004377 114004377 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:114004377G>A uc010yxt.1 - 3 311 c.145C>T c.(145-147)CGC>TGC p.R49C PAX8_uc010yxu.1_Missense_Mutation_p.R49C|PAX8_uc010yxv.1_Missense_Mutation_p.R49C|PAX8_uc002tjm.2_Missense_Mutation_p.R49C|PAX8_uc002tjn.2_Missense_Mutation_p.R49C|PAX8_uc010fku.1_Missense_Mutation_p.R49C|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 49 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 CGGAGCTGGCGAGAGATGTCG 0.637 T PPARG follicular thyroid Thyroid dysgenesis MARCO 8685 broad.mit.edu 37 2 119727888 119727888 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:119727888G>A uc002tln.1 + 3 530 c.398G>A c.(397-399)CGG>CAG p.R133Q MARCO_uc010yyf.1_Missense_Mutation_p.R55Q NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 133 Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 TTGCTGCAGCGGGTAGACAAC 0.602 STEAP3 55240 broad.mit.edu 37 2 120020715 120020715 + Missense_Mutation SNP G G A rs144758696 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:120020715G>A uc002tlp.2 + 6 1425 c.1268G>A c.(1267-1269)CGC>CAC p.R423H STEAP3_uc002tlq.2_Missense_Mutation_p.R433H|STEAP3_uc002tlr.2_Missense_Mutation_p.R423H|STEAP3_uc010fle.2_3'UTR NM_018234 NP_060704 Q658P3 STEA3_HUMAN dudulin 2 isoform b 423 Vesicular (Potential). apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding central_nervous_system(2)|skin(1) 3 GAGGAGAGCCGCTACAAGTTC 0.622 MYO7B 4648 broad.mit.edu 37 2 128366301 128366301 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:128366301G>A uc002top.2 + 22 2715 c.2662G>A c.(2662-2664)GCC>ACC p.A888T NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 888 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) GGTCATCCCGGCCGAGGGGCA 0.652 WDR33 55339 broad.mit.edu 37 2 128520648 128520648 + Nonsense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:128520648T>A uc002tpg.1 - 7 895 c.712A>T c.(712-714)AGA>TGA p.R238* WDR33_uc002tph.1_Nonsense_Mutation_p.R238* NM_018383 NP_060853 Q9C0J8 WDR33_HUMAN WD repeat domain 33 isoform 1 238 WD 3. postreplication repair|spermatogenesis collagen|nucleus protein binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) CGGAGAATTCTTTCCTCATGG 0.393 SAP130 79595 broad.mit.edu 37 2 128757640 128757640 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:128757640C>T uc002tpp.2 - 9 1308 c.1176G>A c.(1174-1176)GCG>GCA p.A392A SAP130_uc002tpn.2_Silent_p.A153A|SAP130_uc002tpo.2_Silent_p.A137A|SAP130_uc010fmd.2_Silent_p.A392A|SAP130_uc002tpq.1_Silent_p.A365A NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 392 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CAGCTGTGGTCGCTGAAGGAA 0.493 SMPD4 55627 broad.mit.edu 37 2 130911877 130911877 + Silent SNP C C T rs2599983 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:130911877C>T uc002tqq.1 - 16 2269 c.1749G>A c.(1747-1749)CCG>CCA p.P583P SMPD4_uc002tqo.1_Silent_p.P115P|SMPD4_uc002tqp.1_Silent_p.P322P|SMPD4_uc010yzy.1_Silent_p.P332P|SMPD4_uc010yzz.1_Silent_p.P247P|SMPD4_uc002tqr.1_Silent_p.P554P|SMPD4_uc002tqs.1_Silent_p.P451P|SMPD4_uc002tqt.1_Silent_p.P432P|SMPD4_uc010zaa.1_Silent_p.P441P|SMPD4_uc010zab.1_Silent_p.P481P|SMPD4_uc010zac.1_Silent_p.P324P|SMPD4_uc010zad.1_Silent_p.P219P NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 544 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) GCCCAAACATCGGGGTGTACT 0.652 TUBA3E 112714 broad.mit.edu 37 2 130951527 130951527 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:130951527G>A uc002tqv.2 - 4 989 c.888C>T c.(886-888)TTC>TTT p.F296F NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 296 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) TGGCTGGCTCGAAGCAGGCAT 0.597 PTPN18 26469 broad.mit.edu 37 2 131130796 131130796 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:131130796A>G uc002trc.2 + 15 1483 c.1382A>G c.(1381-1383)TAA>TGA p.*461* PTPN18_uc002trd.2_Intron|PTPN18_uc002trb.2_Silent_p.*354*|PTPN18_uc002tre.2_Silent_p.*112* NM_014369 NP_055184 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 461 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity ovary(3)|kidney(1) 4 Colorectal(110;0.1) ACCCGGGTGTAAGTCTAACGC 0.637 CFC1B 653275 broad.mit.edu 37 2 131356243 131356243 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:131356243C>T uc002tro.1 - 3 610 c.219G>A c.(217-219)CCG>CCA p.P73P NM_001079530 NP_001072998 P0CG36 CFC1B_HUMAN cripto, FRL-1, cryptic family 1B 73 gastrulation extracellular region 0 Colorectal(110;0.1) AGTAGGGGAGCGGCTCCTCCG 0.622 TUBA3D 113457 broad.mit.edu 37 2 132237951 132237951 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:132237951C>T uc002tsu.3 + 4 792 c.685C>T c.(685-687)CGC>TGC p.R229C NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 229 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) CAACCTCAATCGCCTGATTGG 0.527 NCKAP5 344148 broad.mit.edu 37 2 133538706 133538706 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:133538706G>A uc002ttp.2 - 15 5342 c.4968C>T c.(4966-4968)ATC>ATT p.I1656I NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1656 protein binding 0 TAGAGCTGCCGATGAGACAGG 0.458 LRP1B 53353 broad.mit.edu 37 2 141751585 141751585 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:141751585C>T uc002tvj.1 - 16 3595 c.2623G>A c.(2623-2625)GAT>AAT p.D875N LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 875 Extracellular (Potential).|LDL-receptor class A 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) GAATCCTCATCGCTTCCGTCT 0.433 TSP Lung(27;0.18) NEB 4703 broad.mit.edu 37 2 152394412 152394412 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:152394412G>A uc010fnx.2 - 112 16164 c.15973C>T c.(15973-15975)CGA>TGA p.R5325* NEB_uc002txr.2_Nonsense_Mutation_p.R1748* NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 5325 Nebulin 145. 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) GTGACTGCTCGGTGGTGGAAA 0.393 CACNB4 785 broad.mit.edu 37 2 152732944 152732944 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:152732944C>T uc002tya.2 - 5 585 c.517G>A c.(517-519)GGA>AGA p.G173R CACNB4_uc002txy.2_Missense_Mutation_p.G139R|CACNB4_uc002txz.2_Missense_Mutation_p.G155R|CACNB4_uc010fnz.2_Missense_Mutation_p.G173R|CACNB4_uc002tyb.2_Missense_Mutation_p.G139R NM_000726 NP_000717 O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 173 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) ACGTACCCTCCGTGAAAACGT 0.403 ACVR1C 130399 broad.mit.edu 37 2 158395174 158395174 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:158395174G>A uc002tzk.3 - 8 1510 c.1267C>T c.(1267-1269)CCT>TCT p.P423S ACVR1C_uc002tzl.3_Missense_Mutation_p.P343S|ACVR1C_uc010fof.2_Missense_Mutation_p.P266S|ACVR1C_uc010foe.2_Missense_Mutation_p.P373S NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 423 Protein kinase.|Cytoplasmic (Potential). apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 GGATCTGAAGGCACCATGTCA 0.373 UPP2 151531 broad.mit.edu 37 2 158974403 158974403 + Missense_Mutation SNP G G A rs148283386 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:158974403G>A uc002tzp.2 + 4 601 c.407G>A c.(406-408)CGG>CAG p.R136Q UPP2_uc002tzo.2_Missense_Mutation_p.R193Q NM_173355 NP_775491 O95045 UPP2_HUMAN uridine phosphorylase 2 isoform a 136 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity 0 CACCATGCACGGTGCTGCGAT 0.428 ITGB6 3694 broad.mit.edu 37 2 161052032 161052032 + Silent SNP G G A rs61758144 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:161052032G>A uc002ubh.2 - 4 457 c.441C>T c.(439-441)GAC>GAT p.D147D ITGB6_uc010fow.1_RNA|ITGB6_uc010fou.2_Silent_p.D147D|ITGB6_uc010zcq.1_Silent_p.D105D|ITGB6_uc010fov.1_Silent_p.D147D NM_000888 NP_000879 P18564 ITB6_HUMAN integrin, beta 6 precursor 147 Extracellular (Potential).|VWFA. 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 TGTTGAGGTCGTCATCCATGG 0.512 CSRNP3 80034 broad.mit.edu 37 2 166536156 166536156 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:166536156A>G uc002udf.2 + 7 2027 c.1651A>G c.(1651-1653)AGT>GGT p.S551G CSRNP3_uc002udg.2_Missense_Mutation_p.S551G NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 551 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 GAATGGTGACAGTCACATTTC 0.448 XIRP2 129446 broad.mit.edu 37 2 168101881 168101881 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:168101881C>T uc002udx.2 + 8 3997 c.3979C>T c.(3979-3981)CGA>TGA p.R1327* XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.R1152*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.R1105*|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1152 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AATTCAAGACCGAGAAGGGTC 0.398 XIRP2 129446 broad.mit.edu 37 2 168102837 168102837 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:168102837T>C uc002udx.2 + 8 4953 c.4935T>C c.(4933-4935)ACT>ACC p.T1645T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T1470T|XIRP2_uc010fpq.2_Silent_p.T1423T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1470 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 ACAGATCAACTGAATTTCATG 0.323 GORASP2 26003 broad.mit.edu 37 2 171822431 171822431 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:171822431C>T uc002ugk.2 + 10 1290 c.1150C>T c.(1150-1152)CTG>TTG p.L384L GORASP2_uc002ugj.2_Silent_p.L316L|GORASP2_uc010zdl.1_Silent_p.L396L|GORASP2_uc010zdm.1_Silent_p.L340L|GORASP2_uc002ugl.2_Silent_p.L316L|GORASP2_uc002ugm.2_Silent_p.L166L NM_015530 NP_056345 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2 384 Golgi membrane breast(1)|central_nervous_system(1) 2 AGGAGAGCTGCTGTCTTCCCT 0.607 KIAA1715 80856 broad.mit.edu 37 2 176857133 176857133 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:176857133A>G uc002ukc.1 - 4 276 c.83T>C c.(82-84)TTG>TCG p.L28S KIAA1715_uc010zer.1_Missense_Mutation_p.L28S|KIAA1715_uc010fqw.1_Missense_Mutation_p.L94S|KIAA1715_uc010zes.1_Intron|KIAA1715_uc002ukd.1_Intron|KIAA1715_uc010zet.1_RNA NM_030650 NP_085153 Q9C0E8 LNP_HUMAN Lunapark 28 Potential.|Cytoplasmic (Potential). integral to membrane protein binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.0793) AAATTCTTCCAATGCTTGAAT 0.259 HOXD1 3231 broad.mit.edu 37 2 177053568 177053568 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:177053568C>T uc002ukv.3 + 1 262 c.39C>T c.(37-39)AGC>AGT p.S13S HOXD1_uc010fqy.2_Silent_p.S13S|HOXD1_uc010zez.1_Silent_p.S13S NM_024501 NP_078777 Q9GZZ0 HXD1_HUMAN homeobox D1 13 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.0226) GCAGCAGCAGCGGCGGGGTCG 0.716 OSBPL6 114880 broad.mit.edu 37 2 179214012 179214012 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179214012C>T uc002ulx.2 + 12 1427 c.1049C>T c.(1048-1050)GCA>GTA p.A350V OSBPL6_uc002ulw.2_Missense_Mutation_p.A319V|OSBPL6_uc002uly.2_Missense_Mutation_p.A375V|OSBPL6_uc010zfe.1_Missense_Mutation_p.A319V|OSBPL6_uc002ulz.2_Missense_Mutation_p.A350V|OSBPL6_uc002uma.2_Missense_Mutation_p.A354V NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 350 A -> V (in Ref. 4; BAG62123). lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AACCTTTGTGCAGATATTGAA 0.438 TTN 7273 broad.mit.edu 37 2 179409151 179409151 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179409151G>A uc010zfg.1 - 294 88325 c.88101C>T c.(88099-88101)TAC>TAT p.Y29367Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.Y23062Y|TTN_uc010zfi.1_Silent_p.Y22995Y|TTN_uc010zfj.1_Silent_p.Y22870Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30294 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) TACCACCATCGTACATGGGTT 0.443 TTN 7273 broad.mit.edu 37 2 179410269 179410269 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179410269A>C uc010zfg.1 - 293 88088 c.87864T>G c.(87862-87864)CGT>CGG p.R29288R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R22983R|TTN_uc010zfi.1_Silent_p.R22916R|TTN_uc010zfj.1_Silent_p.R22791R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30215 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) CTTTGTTGACACGTGTCCAGC 0.483 TTN 7273 broad.mit.edu 37 2 179410765 179410765 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179410765T>C uc010zfg.1 - 292 87718 c.87494A>G c.(87493-87495)CAG>CGG p.Q29165R uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q22860R|TTN_uc010zfi.1_Missense_Mutation_p.Q22793R|TTN_uc010zfj.1_Missense_Mutation_p.Q22668R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30092 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) TCCGTCTTCCTGCGGAAGGCT 0.527 TTN 7273 broad.mit.edu 37 2 179413514 179413514 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179413514T>C uc010zfg.1 - 288 85359 c.85135A>G c.(85135-85137)ATT>GTT p.I28379V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I22074V|TTN_uc010zfi.1_Missense_Mutation_p.I22007V|TTN_uc010zfj.1_Missense_Mutation_p.I21882V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29306 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) TGGTAGGCAATGAAGAGGCGA 0.463 TTN 7273 broad.mit.edu 37 2 179414314 179414314 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179414314A>G uc010zfg.1 - 287 84655 c.84431T>C c.(84430-84432)GTT>GCT p.V28144A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V21839A|TTN_uc010zfi.1_Missense_Mutation_p.V21772A|TTN_uc010zfj.1_Missense_Mutation_p.V21647A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29071 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) TATTTGAGCAACCACTGGATC 0.373 TTN 7273 broad.mit.edu 37 2 179433561 179433561 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179433561T>C uc010zfg.1 - 275 69818 c.69594A>G c.(69592-69594)GAA>GAG p.E23198E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.E16893E|TTN_uc010zfi.1_Silent_p.E16826E|TTN_uc010zfj.1_Silent_p.E16701E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24125 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) TAAAAAGATATTCTTCCCCTT 0.418 TTN 7273 broad.mit.edu 37 2 179466820 179466820 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179466820C>T uc010zfg.1 - 233 47698 c.47474G>A c.(47473-47475)GGC>GAC p.G15825D uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G9520D|TTN_uc010zfi.1_Missense_Mutation_p.G9453D|TTN_uc010zfj.1_Missense_Mutation_p.G9328D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16752 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) AATCTGTGAGCCAGCTTTACA 0.408 TTN 7273 broad.mit.edu 37 2 179566903 179566903 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179566903G>A uc010zfg.1 - 105 26995 c.26771C>T c.(26770-26772)ACG>ATG p.T8924M TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T5585M|TTN_uc010fre.1_Missense_Mutation_p.T35M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9851 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) ACCTTTCGTCGTTAGGTACAG 0.458 TTN 7273 broad.mit.edu 37 2 179650794 179650794 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179650794G>T uc010zfg.1 - 14 2375 c.2151C>A c.(2149-2151)CCC>CCA p.P717P TTN_uc010zfh.1_Silent_p.P671P|TTN_uc010zfi.1_Silent_p.P671P|TTN_uc010zfj.1_Silent_p.P671P|TTN_uc002unb.2_Silent_p.P717P|TTN_uc010frg.1_Silent_p.P299P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 717 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) CAGGCTCTCTGGGCTCTCTGA 0.517 TTN 7273 broad.mit.edu 37 2 179666974 179666974 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179666974G>A uc002und.2 - 3 411 c.186C>T c.(184-186)CGC>CGT p.R62R TTN_uc010zfg.1_Silent_p.R62R|TTN_uc010zfh.1_Silent_p.R62R|TTN_uc010zfi.1_Silent_p.R62R|TTN_uc010zfj.1_Silent_p.R62R|TTN_uc002unb.2_Silent_p.R62R Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 62 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) TCAGTTTAGCGCGGCCATCGC 0.542 CCDC141 285025 broad.mit.edu 37 2 179734013 179734013 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179734013T>C uc002unf.1 - 5 557 c.500A>G c.(499-501)CAG>CGG p.Q167R NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 167 protein binding p.Q167R(1) ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CATAATGTACTGAACCTCATC 0.328 ITGA4 3676 broad.mit.edu 37 2 182322503 182322503 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:182322503C>T uc002unu.2 + 1 885 c.122C>T c.(121-123)GCG>GTG p.A41V ITGA4_uc002unt.2_Missense_Mutation_p.A41V|ITGA4_uc010zfl.1_Missense_Mutation_p.A41V NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 41 FG-GAP 1.|Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ACTGAGAGCGCGCTGCTTTAC 0.677 ITGA4 3676 broad.mit.edu 37 2 182360664 182360664 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:182360664G>T uc002unu.2 + 14 2303 c.1540G>T c.(1540-1542)GTT>TTT p.V514F ITGA4_uc010frj.1_5'Flank NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 514 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) AGGTTACATTGGTGGGTATGC 0.438 ZNF804A 91752 broad.mit.edu 37 2 185802533 185802533 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:185802533G>A uc002uph.2 + 4 3004 c.2410G>A c.(2410-2412)GCT>ACT p.A804T NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 804 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TACTTCAGTTGCTCCCTGCAA 0.383 ITGAV 3685 broad.mit.edu 37 2 187523819 187523819 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:187523819C>T uc002upq.2 + 18 2050 c.1774C>T c.(1774-1776)CGG>TGG p.R592W ITGAV_uc010frs.2_Missense_Mutation_p.R556W|ITGAV_uc010zfv.1_Missense_Mutation_p.R546W NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 592 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) TATGGAATATCGGTTGGATTA 0.368 GULP1 51454 broad.mit.edu 37 2 189348173 189348173 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:189348173A>G uc010fru.2 + 4 505 c.44A>G c.(43-45)CAT>CGT p.H15R GULP1_uc002uqc.3_Missense_Mutation_p.H15R|GULP1_uc002uqd.2_Missense_Mutation_p.H15R|GULP1_uc010zfw.1_Missense_Mutation_p.H15R|GULP1_uc002uqe.2_Missense_Mutation_p.H15R|GULP1_uc002uqf.2_Missense_Mutation_p.H15R|GULP1_uc002uqg.2_Missense_Mutation_p.H15R NM_016315 NP_057399 Q9UBP9 GULP1_HUMAN GULP, engulfment adaptor PTB domain containing 15 apoptosis|lipid transport|phagocytosis, engulfment cytoplasm|intracellular membrane-bounded organelle signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158) ACATGGATGCATACACCTGAA 0.274 SLC40A1 30061 broad.mit.edu 37 2 190430308 190430308 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:190430308G>A uc002uqp.3 - 6 883 c.532C>T c.(532-534)CGA>TGA p.R178* NM_014585 NP_055400 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated 178 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) TCAATCCTTCGTATTGTGGCA 0.463 SDPR 8436 broad.mit.edu 37 2 192700907 192700907 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:192700907C>T uc002utb.2 - 2 1350 c.1020G>A c.(1018-1020)GCG>GCA p.A340A NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 340 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TGGCGAGGGACGCTTCGGAAT 0.567 SDPR 8436 broad.mit.edu 37 2 192711619 192711619 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:192711619G>A uc002utb.2 - 1 363 c.33C>T c.(31-33)TTC>TTT p.F11F NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 11 caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) CAGGGTGCTGGAACTTTTCGG 0.612 CCDC150 284992 broad.mit.edu 37 2 197597197 197597197 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:197597197T>C uc002utp.1 + 28 3352 c.3217T>C c.(3217-3219)TCC>CCC p.S1073P CCDC150_uc010zgs.1_Missense_Mutation_p.S720P NM_001080539 NP_001074008 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 1073 0 TGATGTCATGTCCAACCAATC 0.443 C2orf66 401027 broad.mit.edu 37 2 197672223 197672223 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:197672223C>T uc002utv.2 - 2 1187 c.298G>A c.(298-300)GCA>ACA p.A100T NM_213608 NP_998773 Q6UXQ4 CB066_HUMAN hypothetical protein LOC401027 precursor 100 extracellular region 0 TCTGCAGATGCAGAAGCAGTA 0.408 RFTN2 130132 broad.mit.edu 37 2 198498533 198498533 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:198498533G>A uc002uuo.3 - 4 1029 c.627C>T c.(625-627)AGC>AGT p.S209S NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 209 plasma membrane 0 CCTCAATTCCGCTTTCAGATG 0.413 FAM126B 285172 broad.mit.edu 37 2 201846041 201846041 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:201846041C>T uc002uws.3 - 12 1733 c.1545G>A c.(1543-1545)AAG>AAA p.K515K FAM126B_uc002uwu.2_Silent_p.K489K|FAM126B_uc002uwv.2_Silent_p.K515K NM_173822 NP_776183 Q8IXS8 F126B_HUMAN hypothetical protein LOC285172 515 intracellular ovary(1) 1 ATCGAGACTGCTTGGTCAAGG 0.473 ABI2 10152 broad.mit.edu 37 2 204267367 204267367 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:204267367T>A uc002vaa.2 + 9 1337 c.1102T>A c.(1102-1104)TCG>ACG p.S368T ABI2_uc002uzz.2_Missense_Mutation_p.S301T|ABI2_uc010zih.1_Missense_Mutation_p.S16T|ABI2_uc010zii.1_Missense_Mutation_p.S362T|ABI2_uc010zij.1_Missense_Mutation_p.S245T|ABI2_uc002vab.2_Missense_Mutation_p.S256T|ABI2_uc010zik.1_Missense_Mutation_p.S93T|ABI2_uc010zil.1_Missense_Mutation_p.S203T|ABI2_uc010zim.1_Missense_Mutation_p.S154T|ABI2_uc002vac.2_Missense_Mutation_p.S154T|ABI2_uc010zin.1_Missense_Mutation_p.S16T NM_005759 NP_005750 Q9NYB9 ABI2_HUMAN abl interactor 2 368 Pro-rich. actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation cytoskeleton|cytosol|filopodium|lamellipodium cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding 0 AATAGGGGGCTCGTTGCCCTA 0.443 ZDBF2 57683 broad.mit.edu 37 2 207169506 207169506 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:207169506C>A uc002vbp.2 + 5 504 c.254C>A c.(253-255)GCT>GAT p.A85D NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 85 nucleic acid binding|zinc ion binding ovary(3) 3 TTGGATGATGCTTTTTCTGAA 0.423 ADAM23 8745 broad.mit.edu 37 2 207436508 207436508 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:207436508G>A uc002vbq.2 + 17 1847 c.1624G>A c.(1624-1626)GAC>AAC p.D542N ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 542 Disintegrin.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TCACTGCAGCGACGGGCCCTG 0.443 PTH2R 5746 broad.mit.edu 37 2 209308074 209308074 + Nonsense_Mutation SNP C C T rs149710383 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:209308074C>T uc002vdb.2 + 6 724 c.511C>T c.(511-513)CGA>TGA p.R171* PTH2R_uc010zjb.1_Nonsense_Mutation_p.R182* NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 171 Cytoplasmic (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) TCTCCGTAGACGATTGCATTG 0.433 VWC2L 402117 broad.mit.edu 37 2 215279080 215279080 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:215279080G>A uc002vet.2 + 2 293 c.163G>A c.(163-165)GAT>AAT p.D55N VWC2L_uc010zjl.1_Missense_Mutation_p.D55N NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain-containing 55 VWFC 1. extracellular region 0 AGGGTGTGTCGATGACAGCGG 0.473 ABCA12 26154 broad.mit.edu 37 2 215843555 215843555 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:215843555G>A uc002vew.2 - 32 5170 c.4950C>T c.(4948-4950)TAC>TAT p.Y1650Y ABCA12_uc002vev.2_Silent_p.Y1332Y|ABCA12_uc010zjn.1_Silent_p.Y577Y NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1650 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) CTGAAATGCCGTAGCACCCGA 0.458 TNS1 7145 broad.mit.edu 37 2 218713378 218713378 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:218713378C>T uc002vgt.2 - 17 1885 c.1487G>A c.(1486-1488)CGG>CAG p.R496Q TNS1_uc002vgr.2_Missense_Mutation_p.R496Q|TNS1_uc002vgs.2_Missense_Mutation_p.R496Q|TNS1_uc010zjv.1_Missense_Mutation_p.R496Q|TNS1_uc010fvj.1_Missense_Mutation_p.R564Q|TNS1_uc010fvk.1_Missense_Mutation_p.R621Q|TNS1_uc010fvi.1_Missense_Mutation_p.R183Q NM_022648 NP_072174 Q9HBL0 TENS1_HUMAN tensin 496 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) GTCTGTCTCCCGCTCAGATGC 0.617 CXCR1 3577 broad.mit.edu 37 2 219029505 219029505 + Missense_Mutation SNP G G A rs111741549 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:219029505G>A uc002vhc.2 - 2 549 c.430C>T c.(430-432)CGC>TGC p.R144C NM_000634 NP_000625 P25024 CXCR1_HUMAN interleukin 8 receptor alpha 144 Cytoplasmic (Potential). dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity lung(2) 2 GTCAGTGTGCGTGTGGCATGG 0.542 PNKD 25953 broad.mit.edu 37 2 219209550 219209550 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:219209550A>G uc002vhn.2 + 10 1148 c.1004A>G c.(1003-1005)GAG>GGG p.E335G PNKD_uc002vhq.2_Missense_Mutation_p.E311G NM_015488 NP_056303 Q8N490 PNKD_HUMAN myofibrillogenesis regulator 1 isoform 1 335 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding 0 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACCCTGGGAGAGGAGCGCTCC 0.642 SLC11A1 6556 broad.mit.edu 37 2 219251369 219251369 + Silent SNP C C T rs145880987 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:219251369C>T uc002vhv.2 + 5 745 c.405C>T c.(403-405)ACC>ACT p.T135T SLC11A1_uc010zkb.1_Missense_Mutation_p.P160L|SLC11A1_uc010fvp.1_Silent_p.T135T|SLC11A1_uc010fvq.1_Silent_p.T68T|SLC11A1_uc010zkc.1_Silent_p.T68T|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_Silent_p.T17T|SLC11A1_uc010fvr.2_5'UTR NM_000578 NP_000569 P49279 NRAM1_HUMAN natural resistance-associated macrophage protein 135 Cytoplasmic (Potential). activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity ovary(3)|central_nervous_system(1) 4 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCCCCGCACCGTCCTCTGGC 0.552 VIL1 7429 broad.mit.edu 37 2 219295597 219295597 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:219295597C>T uc002via.2 + 10 1163 c.1098C>T c.(1096-1098)TCC>TCT p.S366S VIL1_uc010zke.1_Silent_p.S55S|VIL1_uc002vib.2_Silent_p.S366S|VIL1_uc002vic.1_Silent_p.S366S NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 366 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGTGGGCTCCGTGGGTGAGG 0.642 ZNF142 7701 broad.mit.edu 37 2 219509452 219509452 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:219509452T>C uc002vin.2 - 8 2223 c.1787A>G c.(1786-1788)CAT>CGT p.H596R ZNF142_uc002vil.2_Missense_Mutation_p.H557R|ZNF142_uc010fvt.2_Missense_Mutation_p.H433R|ZNF142_uc002vim.2_Missense_Mutation_p.H433R NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 596 C2H2-type 14. 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) TACATAGCCATGGGCCTTGCG 0.597 CCDC108 255101 broad.mit.edu 37 2 219868992 219868992 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:219868992G>A uc002vjl.1 - 33 5321 c.5237C>T c.(5236-5238)CCG>CTG p.P1746L uc010fvz.1_5'Flank|MIR375_hsa-mir-375|MI0000783_5'Flank NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 1746 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) GTCTTCCTTCGGCTGCTTGCC 0.368 OBSL1 23363 broad.mit.edu 37 2 220416499 220416499 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:220416499C>T uc010fwk.2 - 20 5492 c.5435G>A c.(5434-5436)CGC>CAC p.R1812H hsa-mir-3132|MI0014152_5'Flank NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 1812 Ig-like 14. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) AGGGGGGTGGCGGCACATCTG 0.682 OBSL1 23363 broad.mit.edu 37 2 220432923 220432923 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:220432923C>T uc010fwk.2 - 2 1193 c.1136G>A c.(1135-1137)CGG>CAG p.R379Q OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.R379Q|OBSL1_uc002vmj.2_5'UTR NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 379 Ig-like 4. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GGGCAGCAGCCGCTGGTCCTC 0.627 OREG0003988 type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay DOCK10 55619 broad.mit.edu 37 2 225638013 225638013 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:225638013G>A uc010fwz.1 - 53 6304 c.6065C>T c.(6064-6066)TCG>TTG p.S2022L DOCK10_uc002vob.2_Missense_Mutation_p.S2016L|DOCK10_uc002voa.2_Missense_Mutation_p.S678L NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 2022 DHR-2. GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) TTCTGTGCTCGATTGGCTAAT 0.423 SP140 11262 broad.mit.edu 37 2 231120198 231120198 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:231120198T>C uc002vql.2 + 12 1306 c.1191T>C c.(1189-1191)GAT>GAC p.D397D SP140_uc010zma.1_RNA|SP140_uc002vqk.2_Silent_p.D363D|SP140_uc002vqn.2_Silent_p.D283D|SP140_uc002vqm.2_Silent_p.D337D|SP140_uc010fxl.2_Intron NM_007237 NP_009168 Q13342 LY10_HUMAN SP140 nuclear body protein isoform 1 397 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|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) AAATGTGTGATGGAGAAGAGC 0.527 HDAC4 9759 broad.mit.edu 37 2 240078381 240078381 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:240078381C>T uc002vyk.3 - 7 1492 c.700G>A c.(700-702)GAC>AAC p.D234N HDAC4_uc010fyz.1_Missense_Mutation_p.D229N|HDAC4_uc010zoa.1_Missense_Mutation_p.D229N|HDAC4_uc010fza.2_Missense_Mutation_p.D234N|HDAC4_uc010fyy.2_Missense_Mutation_p.D186N|HDAC4_uc010znz.1_Missense_Mutation_p.D117N|HDAC4_uc010fzb.1_5'Flank NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 234 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|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)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) TCTTTGGCGTCGTACATTCCC 0.592 OR6B3 150681 broad.mit.edu 37 2 240984767 240984767 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:240984767G>A uc010zoe.1 - 1 723 c.723C>T c.(721-723)TGC>TGT p.C241C PRR21_uc010zod.1_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, 241 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) GGTGAGAGGCGCAGGTGAAGA 0.587 PASK 23178 broad.mit.edu 37 2 242047655 242047655 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:242047655A>G uc002wao.1 - 16 3686 c.3594T>C c.(3592-3594)TTT>TTC p.F1198F PASK_uc010zol.1_Silent_p.F1012F|PASK_uc010zom.1_Silent_p.F1163F|PASK_uc010fzl.1_Silent_p.F1205F|PASK_uc010zon.1_Silent_p.F979F NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 1198 Protein kinase. regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GGTTCTCCTCAAAGACCAGCG 0.597 ANO7 50636 broad.mit.edu 37 2 242128052 242128052 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:242128052C>T uc002wax.2 + 1 129 c.26C>T c.(25-27)GCG>GTG p.A9V ANO7_uc002waw.2_Missense_Mutation_p.A9V NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 9 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 ACTGCCTGGGCGGGGCTCCAA 0.682 TMC2 117532 broad.mit.edu 37 20 2616615 2616615 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:2616615C>T uc002wgf.1 + 18 2365 c.2350C>T c.(2350-2352)CGA>TGA p.R784* TMC2_uc002wgg.1_Nonsense_Mutation_p.R768* NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 784 Cytoplasmic (Potential). integral to membrane ovary(3) 3 AAGCCTTTCCCGAGCTAATGC 0.453 PTPRA 5786 broad.mit.edu 37 20 3018724 3018724 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:3018724A>G uc010zqd.1 + 23 2704 c.2387A>G c.(2386-2388)TAC>TGC p.Y796C PTPRA_uc002whj.2_Missense_Mutation_p.Y785C|PTPRA_uc002whk.2_Missense_Mutation_p.Y776C|PTPRA_uc002whl.2_Missense_Mutation_p.Y776C|PTPRA_uc002whm.2_Missense_Mutation_p.Y552C|PTPRA_uc002whn.2_Missense_Mutation_p.Y776C|PTPRA_uc002who.2_Missense_Mutation_p.Y448C NM_002836 NP_002827 P18433 PTPRA_HUMAN protein tyrosine phosphatase, receptor type, A 785 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. axon guidance|protein phosphorylation integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity upper_aerodigestive_tract(1) 1 GAGTTCTGCTACAAGGTGGTG 0.423 FERMT1 55612 broad.mit.edu 37 20 6096601 6096601 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:6096601C>G uc002wmr.2 - 3 1031 c.242G>C c.(241-243)GGG>GCG p.G81A FERMT1_uc010gbt.2_5'UTR|FERMT1_uc002wms.2_Missense_Mutation_p.G81A NM_017671 NP_060141 Q9BQL6 FERM1_HUMAN kindlin-1 81 cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding ovary(1)|pancreas(1)|skin(1) 3 TGCCTGGACCCCATATTTGTC 0.488 SEL1L2 80343 broad.mit.edu 37 20 13847354 13847354 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:13847354A>G uc010gcf.2 - 15 1480 c.1398T>C c.(1396-1398)GCT>GCC p.A466A SEL1L2_uc002woq.3_Silent_p.A327A|SEL1L2_uc010zrl.1_Silent_p.A466A|SEL1L2_uc002wor.2_RNA NM_025229 NP_079505 Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 precursor 466 Extracellular (Potential).|Sel1-like 9. integral to membrane binding ovary(2) 2 TTACCTCCACAGCAGTTCTGC 0.398 FLRT3 23767 broad.mit.edu 37 20 14306860 14306860 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:14306860T>C uc002wov.1 - 3 1760 c.1293A>G c.(1291-1293)CTA>CTG p.L431L MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Silent_p.L431L NM_198391 NP_938205 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 431 Extracellular (Potential).|Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity kidney(1) 1 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) CAGTCATAGGTAGAGCAAGTT 0.438 KIF16B 55614 broad.mit.edu 37 20 16488665 16488665 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:16488665C>A uc002wpg.1 - 7 795 c.637G>T c.(637-639)GCG>TCG p.A213S KIF16B_uc010gch.1_Missense_Mutation_p.A213S|KIF16B_uc010gci.1_Missense_Mutation_p.A213S|KIF16B_uc010gcj.1_Missense_Mutation_p.A213S NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 213 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 ATCCCAGTCGCTGCGGTGGTC 0.488 OTOR 56914 broad.mit.edu 37 20 16729553 16729553 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:16729553C>A uc002wpj.2 + 2 201 c.157C>A c.(157-159)CCG>ACG p.P53T OTOR_uc002wpk.2_5'Flank NM_020157 NP_064542 Q9NRC9 OTOR_HUMAN otoraplin precursor 53 SH3. sensory perception of sound extracellular region ovary(1)|central_nervous_system(1) 2 TTATAATGCCCCGGACTGTAG 0.358 RRBP1 6238 broad.mit.edu 37 20 17614161 17614161 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:17614161G>A uc002wpv.1 - 9 1609 c.1255C>T c.(1255-1257)CGG>TGG p.R419W RRBP1_uc002wpu.2_Missense_Mutation_p.R193W|RRBP1_uc002wpw.1_Missense_Mutation_p.R419W|RRBP1_uc010gcl.1_Missense_Mutation_p.R193W|RRBP1_uc010gcm.1_Silent_p.S4S NM_001042576 NP_001036041 Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 852 Cytoplasmic (Potential). protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity ovary(1) 1 AGAGCTTTCCGCTGCTGCTCA 0.622 ZNF133 7692 broad.mit.edu 37 20 18297204 18297204 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:18297204G>A uc010gcq.2 + 5 2014 c.1709G>A c.(1708-1710)CGG>CAG p.R570Q ZNF133_uc010zrv.1_Missense_Mutation_p.R573Q|ZNF133_uc010zrw.1_Missense_Mutation_p.R507Q|ZNF133_uc010gcr.2_Missense_Mutation_p.R570Q|ZNF133_uc010zrx.1_Missense_Mutation_p.R475Q|ZNF133_uc002wql.3_Missense_Mutation_p.R569Q|ZNF133_uc010gcs.2_Missense_Mutation_p.R569Q|ZNF133_uc010zry.1_Missense_Mutation_p.R475Q|ZNF133_uc002wqm.2_Missense_Mutation_p.R570Q NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 570 C2H2-type 13. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 ACACACAAGCGGGCTCACTCG 0.527 RBBP9 10741 broad.mit.edu 37 20 18477806 18477806 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:18477806A>C uc002wqy.2 - 1 82 c.6T>G c.(4-6)GCT>GCG p.A2A NM_006606 NP_006597 O75884 RBBP9_HUMAN retinoblastoma binding protein 9 2 A -> V (in Ref. 1; AAC63498). cytoplasm|nucleus hydrolase activity haematopoietic_and_lymphoid_tissue(1) 1 TGCTAGGAGAAGCCATGAGTG 0.652 SSTR4 6754 broad.mit.edu 37 20 23016551 23016551 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:23016551G>A uc002wsr.2 + 1 495 c.431G>A c.(430-432)CGC>CAC p.R144H NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 144 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) AGCGTGGACCGCTACGTGGCC 0.682 THBD 7056 broad.mit.edu 37 20 23029062 23029062 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:23029062G>A uc002wss.2 - 1 1240 c.1080C>T c.(1078-1080)GGC>GGT p.G360G THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Silent_p.G301G NM_000361 NP_000352 P07204 TRBM_HUMAN thrombomodulin precursor 360 EGF-like 3; calcium-binding (Potential).|Extracellular (Potential). blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity 0 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) CCACACACTCGCCGTCCACCA 0.617 GZF1 64412 broad.mit.edu 37 20 23346139 23346139 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:23346139C>T uc010gdb.2 + 3 1293 c.1119C>T c.(1117-1119)AGC>AGT p.S373S GZF1_uc002wsy.2_Silent_p.S373S|GZF1_uc010zsq.1_Intron|GZF1_uc010zsr.1_Intron|GZF1_uc002wsz.2_Silent_p.S373S NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 373 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) TGCACAGCAGCGAGCGCCATT 0.667 GZF1 64412 broad.mit.edu 37 20 23350333 23350333 + Silent SNP C C T rs145353404 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:23350333C>T uc010gdb.2 + 6 1914 c.1740C>T c.(1738-1740)TGC>TGT p.C580C GZF1_uc002wsy.2_Silent_p.C580C|GZF1_uc010zsq.1_Silent_p.C104C|GZF1_uc010zsr.1_Silent_p.C89C|GZF1_uc002wsz.2_Silent_p.C580C NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 580 C2H2-type 10. transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) GCAATGCGTGCGGACGGACAT 0.587 NINL 22981 broad.mit.edu 37 20 25481580 25481580 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:25481580G>A uc002wux.1 - 8 1002 c.928C>T c.(928-930)CGC>TGC p.R310C NINL_uc010gdn.1_Missense_Mutation_p.R310C|NINL_uc010gdo.1_Intron|NINL_uc010ztf.1_Missense_Mutation_p.R326C NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 310 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GAGAAGAGGCGCAGGCTGGAG 0.592 MYLK2 85366 broad.mit.edu 37 20 30408301 30408301 + Missense_Mutation SNP G G C rs56385445 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:30408301G>C uc002wwq.2 + 3 527 c.425G>C c.(424-426)GGC>GCC p.G142A NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 142 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCCAGGAGGGGCTCACCTGCC 0.627 HCK 3055 broad.mit.edu 37 20 30689272 30689272 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:30689272C>T uc002wxh.2 + 13 1702 c.1531C>T c.(1531-1533)CTG>TTG p.L511L HCK_uc010gdy.2_Silent_p.L490L|HCK_uc002wxi.2_Silent_p.L489L NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 511 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCAGAGTGTGCTGGATGACTT 0.602 ASXL1 171023 broad.mit.edu 37 20 31021647 31021647 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:31021647G>A uc002wxs.2 + 11 2072 c.1646G>A c.(1645-1647)CGT>CAT p.R549H ASXL1_uc010geb.2_Missense_Mutation_p.R440H NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 isoform 1 549 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1) 248 CAGTCCTTTCGTAACACAATT 0.527 F|N|Mis MDS|CMML ZNF341 84905 broad.mit.edu 37 20 32354674 32354674 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:32354674C>T uc002wzy.2 + 9 1260 c.1240C>T c.(1240-1242)CCG>TCG p.P414S ZNF341_uc002wzx.2_Missense_Mutation_p.P407S|ZNF341_uc010geq.2_Missense_Mutation_p.P324S|ZNF341_uc010ger.2_RNA NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 CCAGCCCCTGCCGGGTGCGCC 0.637 MYH7B 57644 broad.mit.edu 37 20 33582119 33582119 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:33582119C>T uc002xbi.1 + 25 2833 c.2741C>T c.(2740-2742)GCG>GTG p.A914V NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 872 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) GCGCTGGCTGCGGCCGAGGCC 0.672 MYH7B 57644 broad.mit.edu 37 20 33589767 33589767 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:33589767C>A uc002xbi.1 + 42 5911 c.5819C>A c.(5818-5820)ACC>AAC p.T1940N NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1898 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) CAGGCCAACACCAACCTGGCC 0.627 NFS1 9054 broad.mit.edu 37 20 34286424 34286424 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:34286424A>G uc002xdw.1 - 2 250 c.186T>C c.(184-186)GAT>GAC p.D62D NFS1_uc002xdt.1_Silent_p.D2D|NFS1_uc002xdu.1_Silent_p.D2D|NFS1_uc002xdv.1_RNA|NFS1_uc010zvk.1_5'UTR|NFS1_uc010zvl.1_Silent_p.D62D|NFS1_uc002xdx.2_Silent_p.D62D|ROMO1_uc002xdy.2_5'Flank|ROMO1_uc010gfm.2_5'Flank NM_021100 NP_066923 Q9Y697 NFS1_HUMAN NFS1 nitrogen fixation 1 precursor 62 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding ovary(1)|skin(1) 2 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TAGCTTGCACATCCATATAGA 0.522 DLGAP4 22839 broad.mit.edu 37 20 35060240 35060240 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:35060240C>T uc002xff.2 + 3 555 c.120C>T c.(118-120)TTC>TTT p.F40F DLGAP4_uc010zvp.1_Silent_p.F40F NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 40 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGGAGGCCTTCGCCCGCGAGG 0.706 DLGAP4 22839 broad.mit.edu 37 20 35128744 35128744 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:35128744G>A uc002xff.2 + 10 2668 c.2233G>A c.(2233-2235)GGT>AGT p.G745S DLGAP4_uc010zvp.1_Missense_Mutation_p.G745S|DLGAP4_uc002xfg.2_Missense_Mutation_p.G41S|DLGAP4_uc002xfh.2_Missense_Mutation_p.G209S|DLGAP4_uc002xfi.2_Missense_Mutation_p.G54S|DLGAP4_uc002xfj.2_Missense_Mutation_p.G41S NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 748 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CATCGATGCCGGTCCCCGGCA 0.612 NDRG3 57446 broad.mit.edu 37 20 35288785 35288785 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:35288785G>A uc002xfw.2 - 13 895 c.813C>T c.(811-813)GTC>GTT p.V271V NDRG3_uc002xfx.2_Silent_p.V259V|NDRG3_uc010zvq.1_Silent_p.V176V|NDRG3_uc010zvr.1_Silent_p.V159V NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN N-myc downstream regulated gene 3 isoform a 271 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm ovary(1) 1 Myeloproliferative disorder(115;0.00878) AATTGCATTCGACCTAAAATT 0.353 KIAA1755 85449 broad.mit.edu 37 20 36868110 36868110 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:36868110T>C uc002xhy.1 - 4 1839 c.1567A>G c.(1567-1569)AAA>GAA p.K523E KIAA1755_uc002xhz.1_Missense_Mutation_p.K523E NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 523 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) CCAGATGTTTTGGTCTGAGTT 0.527 DHX35 60625 broad.mit.edu 37 20 37634851 37634851 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:37634851C>T uc002xjh.2 + 12 1085 c.1074C>T c.(1072-1074)ATC>ATT p.I358I DHX35_uc010zwa.1_Silent_p.I203I|DHX35_uc010zwb.1_Silent_p.I203I|DHX35_uc010zwc.1_Silent_p.I327I NM_021931 NP_068750 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 358 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) TGTATGTGATCGACTGTGGCT 0.483 TTPAL 79183 broad.mit.edu 37 20 43109069 43109069 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:43109069G>A uc002xmc.1 + 3 554 c.430G>A c.(430-432)GTC>ATC p.V144I TTPAL_uc002xmd.1_Missense_Mutation_p.V144I|TTPAL_uc010ggr.1_Silent_p.S21S NM_024331 NP_077307 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 144 CRAL-TRIO. intracellular transporter activity breast(1) 1 CTGCCATGTCGTCTGCATCCG 0.557 SERINC3 10955 broad.mit.edu 37 20 43129883 43129883 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:43129883C>T uc002xme.2 - 9 1248 c.1114G>A c.(1114-1116)GTC>ATC p.V372I SERINC3_uc002xmf.1_Missense_Mutation_p.V372I|SERINC3_uc010ggs.1_Missense_Mutation_p.V365I|SERINC3_uc010zwp.1_Missense_Mutation_p.V317I NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 372 Extracellular (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) CCAAGGATGACGCTGTCACTC 0.517 SEMG1 6406 broad.mit.edu 37 20 43836312 43836312 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:43836312G>T uc002xni.2 + 2 431 c.374G>T c.(373-375)AGG>ATG p.R125M SEMG1_uc002xnj.2_Missense_Mutation_p.R125M|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.R125M NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 125 insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) CATTTTCACAGGGTAGTTATA 0.418 ZSWIM3 140831 broad.mit.edu 37 20 44505588 44505588 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:44505588C>T uc002xqd.2 + 2 594 c.391C>T c.(391-393)CAG>TAG p.Q131* ZSWIM3_uc010zxg.1_Nonsense_Mutation_p.Q125* NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 131 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) CCAGCCTGTGCAGCCCACAAC 0.507 EYA2 2139 broad.mit.edu 37 20 45618724 45618724 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:45618724T>C uc002xsm.2 + 2 449 c.75T>C c.(73-75)GCT>GCC p.A25A EYA2_uc010ghp.2_Silent_p.A25A|EYA2_uc002xsn.2_Silent_p.A30A|EYA2_uc002xso.2_Silent_p.A25A|EYA2_uc002xsp.2_Silent_p.A25A|EYA2_uc002xsq.2_Silent_p.A25A NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a 25 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) TTAACCGTGCTGACGCTGCTG 0.478 EYA2 2139 broad.mit.edu 37 20 45702897 45702897 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:45702897C>T uc002xsm.2 + 7 958 c.584C>T c.(583-585)TCG>TTG p.S195L EYA2_uc010ghp.2_Missense_Mutation_p.S195L|EYA2_uc002xsn.2_Missense_Mutation_p.S200L|EYA2_uc002xso.2_Missense_Mutation_p.S195L|EYA2_uc002xsp.2_Missense_Mutation_p.S195L|EYA2_uc002xsq.2_Missense_Mutation_p.S195L NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a 195 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) ATCTGCCCTTCGCCCCTCTCC 0.617 ZMYND8 23613 broad.mit.edu 37 20 45850103 45850103 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:45850103C>T uc002xta.1 - 20 3473 c.3219G>A c.(3217-3219)GCG>GCA p.A1073A ZMYND8_uc010ghq.1_Silent_p.A704A|ZMYND8_uc010ghr.1_Silent_p.A975A|ZMYND8_uc002xst.1_Silent_p.A955A|ZMYND8_uc002xsu.1_Silent_p.A946A|ZMYND8_uc002xsv.1_Silent_p.A1001A|ZMYND8_uc002xsw.1_Silent_p.A779A|ZMYND8_uc002xsx.1_Silent_p.A779A|ZMYND8_uc002xsy.1_Silent_p.A1002A|ZMYND8_uc002xsz.1_Silent_p.A964A|ZMYND8_uc010zxy.1_Silent_p.A1100A|ZMYND8_uc002xtb.1_Silent_p.A1047A|ZMYND8_uc002xss.2_Silent_p.A1073A|ZMYND8_uc010zxz.1_Silent_p.A941A|ZMYND8_uc002xtc.1_Silent_p.A1047A|ZMYND8_uc002xtd.1_Silent_p.A1022A|ZMYND8_uc002xte.1_Silent_p.A1027A|ZMYND8_uc010zya.1_Silent_p.A1073A|ZMYND8_uc002xtf.1_Silent_p.A1093A|ZMYND8_uc002xsr.1_Silent_p.A172A NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 1073 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) CCTCAGCATCCGCTTCCTGCT 0.532 KCNB1 3745 broad.mit.edu 37 20 47991404 47991404 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:47991404G>A uc002xur.1 - 2 857 c.693C>T c.(691-693)CAC>CAT p.H231H KCNB1_uc002xus.1_Silent_p.H231H NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 231 Helical; Name=Segment S2; (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CGGCCTCCACGTGGGCCAGCT 0.592 BCAS1 8537 broad.mit.edu 37 20 52645510 52645510 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:52645510G>A uc002xws.2 - 4 482 c.144C>T c.(142-144)GTC>GTT p.V48V BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Silent_p.V48V|BCAS1_uc010gil.1_Silent_p.V48V|BCAS1_uc010zzc.1_5'UTR NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 48 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TTCCCAAGTCGACTGTAAACA 0.443 DOK5 55816 broad.mit.edu 37 20 53260110 53260110 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:53260110C>T uc002xwy.2 + 7 1069 c.849C>T c.(847-849)CGC>CGT p.R283R DOK5_uc010gin.2_Silent_p.R175R|DOK5_uc002xwz.2_Silent_p.R145R NM_018431 NP_060901 Q9P104 DOK5_HUMAN docking protein 5 283 insulin receptor binding ovary(1) 1 Colorectal(105;0.202) AGCTCTACCGCTTGCAAGGTA 0.667 C20orf106 200232 broad.mit.edu 37 20 55100071 55100071 + Silent SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:55100071G>C uc002xxx.2 + 1 287 c.207G>C c.(205-207)CCG>CCC p.P69P GCNT7_uc010zzg.1_Intron|C20orf107_uc010zzh.1_Silent_p.P69P NM_001012971 NP_001012989 Q5JX71 CT106_HUMAN hypothetical protein LOC200232 precursor 69 Helical; (Potential). integral to membrane 0 Colorectal(105;0.202) TTGTTGTGCCGTTTGTGATAC 0.458 RAB22A 57403 broad.mit.edu 37 20 56929305 56929305 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:56929305A>G uc002xyz.2 + 6 733 c.471A>G c.(469-471)GAA>GAG p.E157E NM_020673 NP_065724 Q9UL26 RB22A_HUMAN RAS-related protein RAB-22A 157 endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction early endosome|endosome membrane|plasma membrane GTP binding|GTPase activity|protein binding 0 all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07) ACATAAATGAACTCTTTATAG 0.398 PPP1R3D 5509 broad.mit.edu 37 20 58514222 58514222 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:58514222G>A uc002ybb.2 - 1 1131 c.765C>T c.(763-765)TTC>TTT p.F255F C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank NM_006242 NP_006233 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 255 CBM21. glycogen metabolic process protein binding|protein serine/threonine phosphatase activity 0 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) AGCGCACCGCGAAGTGCACGC 0.672 PPP1R3D 5509 broad.mit.edu 37 20 58514292 58514292 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:58514292G>A uc002ybb.2 - 1 1061 c.695C>T c.(694-696)ACG>ATG p.T232M C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank NM_006242 NP_006233 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 232 CBM21. glycogen metabolic process protein binding|protein serine/threonine phosphatase activity 0 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) AACGTCCTCCGTGCCCTCGGG 0.697 CDH4 1002 broad.mit.edu 37 20 60504830 60504830 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:60504830C>T uc002ybn.1 + 13 2183 c.2169C>T c.(2167-2169)GGC>GGT p.G723G CDH4_uc002ybp.1_Silent_p.G649G NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 723 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CCACCATTGGCGCAGTGGCAG 0.597 COL9A3 1299 broad.mit.edu 37 20 61471962 61471962 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:61471962G>A uc002ydm.2 + 32 1936 c.1933G>A c.(1933-1935)GGA>AGA p.G645R COL9A3_uc002ydn.2_Missense_Mutation_p.G139R NM_001853 NP_001844 Q14050 CO9A3_HUMAN alpha 3 type IX collagen precursor 645 Triple-helical region 1 (COL1). axon guidance collagen type IX 0 Breast(26;5.68e-08) TGGGCCTCCCGGAGATCCTGG 0.677 DIDO1 11083 broad.mit.edu 37 20 61541334 61541334 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:61541334T>C uc002ydr.1 - 4 1142 c.878A>G c.(877-879)CAT>CGT p.H293R DIDO1_uc002yds.1_Missense_Mutation_p.H293R|DIDO1_uc002ydt.1_Missense_Mutation_p.H293R|DIDO1_uc002ydu.1_Missense_Mutation_p.H293R|DIDO1_uc002ydv.1_Missense_Mutation_p.H293R|DIDO1_uc002ydw.1_Missense_Mutation_p.H293R|DIDO1_uc002ydx.1_Missense_Mutation_p.H293R|DIDO1_uc011aao.1_Missense_Mutation_p.H293R NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 293 PHD-type. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) ACAATCGCCATGAAACCATTC 0.443 BIRC7 79444 broad.mit.edu 37 20 61870887 61870887 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:61870887C>T uc002yej.2 + 6 1000 c.827C>T c.(826-828)GCC>GTC p.A276V BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.2_Missense_Mutation_p.A258V NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN livin inhibitor of apoptosis isoform alpha 276 RING-type. activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change cytoplasm|nucleus enzyme binding|zinc ion binding ovary(1)|lung(1)|kidney(1) 3 all_cancers(38;2.72e-09) GCTGAGTGTGCCCCCGGCCTG 0.706 RTEL1 51750 broad.mit.edu 37 20 62311267 62311267 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:62311267C>T uc002yfu.1 + 13 1446 c.1103C>T c.(1102-1104)TCG>TTG p.S368L RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.S368L|RTEL1_uc011abd.1_Missense_Mutation_p.S392L|RTEL1_uc011abe.1_Missense_Mutation_p.S145L|RTEL1_uc002yfw.2_RNA NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 368 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) ATCCTGGACTCGCTGGACCAG 0.602 ZGPAT 84619 broad.mit.edu 37 20 62366609 62366609 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:62366609C>T uc002ygk.2 + 6 1328 c.1150C>T c.(1150-1152)CAG>TAG p.Q384* ZGPAT_uc002ygi.2_Nonsense_Mutation_p.Q364*|ZGPAT_uc002ygj.2_Nonsense_Mutation_p.Q364*|ZGPAT_uc010gkk.1_5'UTR|ZGPAT_uc010gkl.1_Nonsense_Mutation_p.Q364*|ZGPAT_uc002ygm.2_Nonsense_Mutation_p.Q355*|ZGPAT_uc002ygn.3_RNA|LIME1_uc011abi.1_5'Flank|LIME1_uc002ygp.3_5'Flank NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 384 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) CCTGCAGAAGCAGACCAGGGT 0.657 NCAM2 4685 broad.mit.edu 37 21 22696804 22696804 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:22696804G>A uc002yld.1 + 6 970 c.721G>A c.(721-723)GCC>ACC p.A241T NCAM2_uc011acb.1_Missense_Mutation_p.A99T|NCAM2_uc011acc.1_Missense_Mutation_p.A266T NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 241 Ig-like C2-type 3.|Extracellular (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) TCCAGAACCCGCCATCTCCTG 0.493 CCT8 10694 broad.mit.edu 37 21 30433672 30433672 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:30433672C>T uc002ynb.2 - 13 1450 c.1351G>A c.(1351-1353)GCA>ACA p.A451T CCT8_uc002ymz.2_Missense_Mutation_p.A67T|CCT8_uc011acp.1_Missense_Mutation_p.A432T|CCT8_uc002yna.2_Missense_Mutation_p.A400T|CCT8_uc002ync.2_Missense_Mutation_p.A450T|CCT8_uc010glm.2_Missense_Mutation_p.A392T|CCT8_uc011acq.1_Missense_Mutation_p.A378T NM_006585 NP_006576 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 451 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding 0 TCTGCCAGTGCGCGGGGAATA 0.368 KRTAP27-1 643812 broad.mit.edu 37 21 31709741 31709741 + Silent SNP G G A rs139729864 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:31709741G>A uc002ynx.1 - 1 272 c.246C>T c.(244-246)CCC>CCT p.P82P NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 82 intermediate filament ovary(2) 2 GGACAACTCCGGGGAAGCAGT 0.478 SFRS15 57466 broad.mit.edu 37 21 33057745 33057745 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:33057745A>G uc002ypd.2 - 18 2688 c.2262T>C c.(2260-2262)CCT>CCC p.P754P SFRS15_uc002ype.2_Silent_p.P754P|SFRS15_uc010glu.2_Silent_p.P739P|SFRS15_uc002ypf.1_Silent_p.P428P NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 754 nucleus nucleotide binding|RNA binding 0 TGTGAGGAGGAGGAATGGATA 0.448 IFNGR2 3460 broad.mit.edu 37 21 34793838 34793838 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:34793838T>C uc002yrp.3 + 3 906 c.258T>C c.(256-258)TGT>TGC p.C86C IFNGR2_uc002yrq.3_Silent_p.C105C|IFNGR2_uc010gma.2_Silent_p.C7C|IFNGR2_uc002yrr.3_Silent_p.C7C NM_005534 NP_005525 P38484 INGR2_HUMAN interferon gamma receptor 2 precursor 86 Extracellular (Potential).|Fibronectin type-III 1. regulation of interferon-gamma-mediated signaling pathway|response to virus endoplasmic reticulum|integral to plasma membrane interferon-gamma receptor activity 0 Interferon gamma-1b(DB00033) GGGTGAATTGTACACAGATCA 0.488 SON 6651 broad.mit.edu 37 21 34927110 34927110 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:34927110G>A uc002yse.1 + 3 5622 c.5573G>A c.(5572-5574)CGC>CAC p.R1858H SON_uc002ysb.1_Missense_Mutation_p.R1858H|SON_uc002ysc.2_Missense_Mutation_p.R1858H|SON_uc002ysd.2_Missense_Mutation_p.R849H|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.R849H NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 1858 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 AAGTCTCATCGCTCTCAGACA 0.463 KCNE1 3753 broad.mit.edu 37 21 35821548 35821548 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:35821548G>T uc010gmp.2 - 2 815 c.385C>A c.(385-387)CCA>ACA p.P129T KCNE1_uc002ytz.2_Missense_Mutation_p.P129T|KCNE1_uc010gmq.2_Missense_Mutation_p.P129T|KCNE1_uc010gmr.2_Missense_Mutation_p.P129T|KCNE1_uc010gms.2_Missense_Mutation_p.P129T|KCNE1_uc002yua.2_RNA NM_001127670 NP_001121142 P15382 KCNE1_HUMAN potassium voltage-gated channel, Isk-related 129 Cytoplasmic (Potential). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound lysosome delayed rectifier potassium channel activity|potassium channel regulator activity ovary(2) 2 Indapamide(DB00808) GGGGTTCATGGGGAAGGCTTC 0.507 DOPEY2 9980 broad.mit.edu 37 21 37617519 37617519 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:37617519C>T uc002yvg.2 + 19 3320 c.3241C>T c.(3241-3243)CGA>TGA p.R1081* DOPEY2_uc011aeb.1_Nonsense_Mutation_p.R1030*|DOPEY2_uc002yvh.2_5'UTR NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1081 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 GTACCCGCTGCGAGGCGAGCT 0.642 DOPEY2 9980 broad.mit.edu 37 21 37649359 37649359 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:37649359G>A uc002yvg.2 + 28 5752 c.5673G>A c.(5671-5673)CCG>CCA p.P1891P DOPEY2_uc011aeb.1_Silent_p.P1840P NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 1891 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 CATCCGCCCCGTCGGTGTACA 0.493 PSMG1 8624 broad.mit.edu 37 21 40550521 40550521 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:40550521C>T uc002yxi.2 - 5 638 c.509G>A c.(508-510)CGA>CAA p.R170Q PSMG1_uc002yxj.2_Missense_Mutation_p.R149Q|PSMG1_uc010gob.2_Missense_Mutation_p.R83Q NM_003720 NP_003711 O95456 PSMG1_HUMAN Down syndrome critical region protein 2 isoform 170 proteasome assembly endoplasmic reticulum protein binding 0 Prostate(19;8.44e-08) GGTAACATGTCGACATGTGAG 0.353 PRDM15 63977 broad.mit.edu 37 21 43246337 43246337 + Silent SNP G G A rs139811499 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:43246337G>A uc002yzq.1 - 20 2817 c.2706C>T c.(2704-2706)TCC>TCT p.S902S PRDM15_uc002yzo.2_Silent_p.S573S|PRDM15_uc002yzp.2_Silent_p.S593S|PRDM15_uc002yzr.1_Silent_p.S593S NM_022115 NP_071398 P57071 PRD15_HUMAN PR domain containing 15 isoform 1 902 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CCGGGCACCCGGAAGGCTCCT 0.557 ABCG1 9619 broad.mit.edu 37 21 43702466 43702466 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:43702466G>A uc002zaq.2 + 6 777 c.671G>A c.(670-672)CGC>CAC p.R224H ABCG1_uc002zan.2_Missense_Mutation_p.R226H|ABCG1_uc002zam.2_Missense_Mutation_p.R202H|ABCG1_uc002zao.2_Missense_Mutation_p.R221H|ABCG1_uc002zap.2_Missense_Mutation_p.R224H|ABCG1_uc002zar.2_Missense_Mutation_p.R235H|ABCG1_uc011aev.1_Missense_Mutation_p.R235H NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 224 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) CAGCGCAAGCGCCTGGCCATC 0.617 AGPAT3 56894 broad.mit.edu 37 21 45379596 45379596 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:45379596G>A uc002zdv.2 + 3 256 c.34G>A c.(34-36)GTG>ATG p.V12M AGPAT3_uc002zdw.2_Missense_Mutation_p.V12M|AGPAT3_uc002zdx.2_Missense_Mutation_p.V99M|AGPAT3_uc002zdy.2_Translation_Start_Site NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 12 Cytoplasmic (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) GACCCAGTTCGTGCTGCACCT 0.642 ICOSLG 23308 broad.mit.edu 37 21 45657004 45657004 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:45657004T>C uc002zee.2 - 3 286 c.152A>G c.(151-153)TAC>TGC p.Y51C ICOSLG_uc011afc.1_Intron|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Missense_Mutation_p.Y51C NM_015259 NP_056074 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand precursor 51 Ig-like V-type.|Extracellular (Potential). B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding 0 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) CCAATATACGTAAACATCATT 0.527 KRTAP10-4 386672 broad.mit.edu 37 21 45994801 45994801 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:45994801C>G uc002zfk.1 + 1 1196 c.1166C>G c.(1165-1167)CCC>CGC p.P389R C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198687 NP_941960 P60372 KR104_HUMAN keratin associated protein 10-4 389 36 X 5 AA repeats of C-C-X(3). keratin filament 0 TCCTGCCAACCCAGCTGCTGC 0.716 ITGB2 3689 broad.mit.edu 37 21 46320286 46320286 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:46320286G>A uc002zgd.2 - 6 890 c.846C>T c.(844-846)AAC>AAT p.N282N ITGB2_uc002zge.2_Silent_p.N282N|ITGB2_uc002zgf.3_Silent_p.N282N|ITGB2_uc011afl.1_Silent_p.N204N|ITGB2_uc010gpw.2_Silent_p.N225N|ITGB2_uc002zgg.2_Silent_p.N282N NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 282 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) AGCGGCCGTCGTTGGGGGTCA 0.632 DIP2A 23181 broad.mit.edu 37 21 47966903 47966903 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr21:47966903G>A uc002zjo.2 + 21 2653 c.2470G>A c.(2470-2472)GTT>ATT p.V824I DIP2A_uc011afy.1_Missense_Mutation_p.V760I|DIP2A_uc011afz.1_Missense_Mutation_p.V820I|DIP2A_uc002zjm.2_Missense_Mutation_p.V824I|DIP2A_uc010gql.2_Missense_Mutation_p.V781I|DIP2A_uc002zjn.2_Missense_Mutation_p.V824I|DIP2A_uc002zjq.2_Missense_Mutation_p.V216I NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 824 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) TGCAGATGACGTTGTGGCCAC 0.577 TBX1 6899 broad.mit.edu 37 22 19752522 19752522 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:19752522C>T uc002zqb.2 + 6 855 c.726C>T c.(724-726)CAC>CAT p.H242H TBX1_uc002zqa.1_Silent_p.H242H|TBX1_uc002zqc.2_Silent_p.H242H NM_080646 NP_542377 O43435 TBX1_HUMAN T-box 1 isoform A 242 T-box. embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development nucleus protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|breast(1) 2 Colorectal(54;0.0993) all_lung(157;3.05e-06) CCCGCTTCCACGTGGTCTATG 0.542 PI4KA 5297 broad.mit.edu 37 22 21153546 21153546 + Silent SNP G G A rs143198544 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:21153546G>A uc002zsz.3 - 16 1896 c.1665C>T c.(1663-1665)CCC>CCT p.P555P PI4KA_uc010gsq.1_Silent_p.P613P NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 555 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) TTGTGTGGTCGGGAATCAAGT 0.542 LZTR1 8216 broad.mit.edu 37 22 21350083 21350083 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:21350083C>T uc002zto.2 + 17 2094 c.1991C>T c.(1990-1992)GCG>GTG p.A664V LZTR1_uc002ztn.2_Missense_Mutation_p.A623V|LZTR1_uc011ahy.1_Missense_Mutation_p.A645V|LZTR1_uc002ztp.2_5'Flank NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 664 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-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;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GGAGCGGGCGCGGAATTCTGT 0.642 PRAME 23532 broad.mit.edu 37 22 22892728 22892728 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:22892728G>A uc002zwf.2 - 4 529 c.373C>T c.(373-375)CGG>TGG p.R125W LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.R109W|PRAME_uc010gtr.2_Missense_Mutation_p.R125W|PRAME_uc002zwg.2_Missense_Mutation_p.R125W|PRAME_uc002zwh.2_Missense_Mutation_p.R125W|PRAME_uc002zwi.2_Missense_Mutation_p.R125W|PRAME_uc002zwj.2_Missense_Mutation_p.R125W|PRAME_uc002zwk.2_Missense_Mutation_p.R125W NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 125 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) GAGTTCTTCCGTAAATCCAGC 0.448 GNAZ 2781 broad.mit.edu 37 22 23438485 23438485 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:23438485C>T uc002zwu.1 + 2 1140 c.603C>T c.(601-603)GAC>GAT p.D201D RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 201 GTP (By similarity). endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) AGATGGTGGACGTGGGGGGGC 0.572 SLC2A11 66035 broad.mit.edu 37 22 24224957 24224957 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:24224957C>T uc002zyn.3 + 8 984 c.885C>T c.(883-885)TAC>TAT p.Y295Y SLC2A11_uc002zyl.1_Silent_p.Y302Y|SLC2A11_uc002zym.3_Silent_p.Y302Y|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Silent_p.Y302Y|SLC2A11_uc002zyp.3_Silent_p.Y298Y NM_001024938 NP_001020109 Q9BYW1 GTR11_HUMAN glucose transporter protein 10 isoform c 295 Extracellular (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity ovary(1) 1 TGTACGCCTACGCCTCCTCCG 0.662 UPB1 51733 broad.mit.edu 37 22 24896163 24896163 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:24896163C>T uc003aaf.2 + 2 314 c.193C>T c.(193-195)CAG>TAG p.Q65* UPB1_uc003aae.2_Intron|UPB1_uc011ajt.1_Nonsense_Mutation_p.Q65* NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN beta-ureidopropionase 65 pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding ovary(2) 2 Colorectal(2;0.0339) AGCGGAGGAGCAGCTGAGACG 0.567 SNRPD3 6634 broad.mit.edu 37 22 24953655 24953655 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:24953655G>A uc003aam.1 + 2 453 c.13G>A c.(13-15)GTG>ATG p.V5M C22orf13_uc003aah.2_5'Flank|C22orf13_uc003aal.2_5'Flank|C22orf13_uc003aai.3_5'Flank|C22orf13_uc003aaj.3_5'Flank|C22orf13_uc003aak.3_5'Flank|SNRPD3_uc011aju.1_Missense_Mutation_p.V5M NM_004175 NP_004166 P62318 SMD3_HUMAN small nuclear ribonucleoprotein polypeptide D3 5 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP enzyme binding|histone pre-mRNA DCP binding ovary(1) 1 GTCTATTGGTGTGCCGATTAA 0.478 KREMEN1 83999 broad.mit.edu 37 22 29533341 29533341 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:29533341G>A uc011akm.1 + 6 656 c.643G>A c.(643-645)GCC>ACC p.A215T KREMEN1_uc003ael.2_Missense_Mutation_p.A215T|KREMEN1_uc011akn.1_Missense_Mutation_p.A98T NM_032045 NP_114434 Q96MU8 KREM1_HUMAN kringle-containing transmembrane protein 1 213 Extracellular (Potential). cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane|membrane fraction protein binding ovary(3)|lung(2) 5 TCTCGTGGGCGCCTGCGGTGG 0.592 GAL3ST1 9514 broad.mit.edu 37 22 30951994 30951994 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:30951994T>C uc003aig.1 - 4 358 c.218A>G c.(217-219)CAG>CGG p.Q73R GAL3ST1_uc003aih.1_Missense_Mutation_p.Q73R|GAL3ST1_uc003aii.1_Missense_Mutation_p.Q73R|GAL3ST1_uc010gvz.1_Missense_Mutation_p.Q73R NM_004861 NP_004852 Q99999 G3ST1_HUMAN galactose-3-O-sulfotransferase 1 73 Lumenal (Potential). protein N-linked glycosylation Golgi membrane|integral to plasma membrane|membrane fraction galactosylceramide sulfotransferase activity 0 GCGCCGCGGCTGGCACTCCCC 0.662 EIF4ENIF1 56478 broad.mit.edu 37 22 31837925 31837925 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:31837925C>T uc003akz.1 - 17 2550 c.2386G>A c.(2386-2388)GCA>ACA p.A796T EIF4ENIF1_uc003akx.1_Missense_Mutation_p.A451T|EIF4ENIF1_uc003aky.1_Missense_Mutation_p.A476T|EIF4ENIF1_uc003ala.1_Missense_Mutation_p.A796T|EIF4ENIF1_uc003alb.1_Missense_Mutation_p.A622T|EIF4ENIF1_uc003akw.1_Missense_Mutation_p.A286T NM_019843 NP_062817 Q9NRA8 4ET_HUMAN eukaryotic translation initiation factor 4E 796 nucleus protein binding|protein transporter activity ovary(1) 1 ACTGGGGATGCCAAGGTGGGT 0.542 SFI1 9814 broad.mit.edu 37 22 31969137 31969137 + Missense_Mutation SNP C C T rs76914885 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:31969137C>T uc003ale.2 + 9 1252 c.859C>T c.(859-861)CGG>TGG p.R287W SFI1_uc003ald.1_Missense_Mutation_p.R263W|SFI1_uc003alf.2_Missense_Mutation_p.R287W|SFI1_uc003alg.2_Missense_Mutation_p.R205W|SFI1_uc011alp.1_Missense_Mutation_p.R205W|SFI1_uc011alq.1_Missense_Mutation_p.R263W|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 287 HAT 3. G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 CTGGCAAAAACGGAGATTTCT 0.493 OREG0003525 type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay DEPDC5 9681 broad.mit.edu 37 22 32198810 32198810 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:32198810G>A uc003als.2 + 15 1209 c.1067G>A c.(1066-1068)CGG>CAG p.R356Q DEPDC5_uc011als.1_Missense_Mutation_p.R356Q|DEPDC5_uc011alu.1_Missense_Mutation_p.R356Q|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.R356Q|DEPDC5_uc003alr.1_Missense_Mutation_p.R356Q|DEPDC5_uc011alt.1_Missense_Mutation_p.R328Q NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 356 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 ACCAAGCAGCGGATGATAGAT 0.512 MCM5 4174 broad.mit.edu 37 22 35806781 35806781 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:35806781T>C uc003anu.3 + 7 891 c.797T>C c.(796-798)ATG>ACG p.M266T MCM5_uc010gwr.2_Missense_Mutation_p.M75T|MCM5_uc003anv.3_Missense_Mutation_p.M223T|MCM5_uc010gws.1_RNA|MCM5_uc003anw.1_Missense_Mutation_p.M50T NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 266 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 GTTACCATCATGGGCATCTAC 0.557 ELFN2 114794 broad.mit.edu 37 22 37769879 37769879 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:37769879C>T uc003asq.3 - 3 2482 c.1696G>A c.(1696-1698)GGC>AGC p.G566S NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 566 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) CTGCTGCTGCCGCCTCCCAGA 0.637 GGA1 26088 broad.mit.edu 37 22 38016834 38016834 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:38016834G>A uc003atc.2 + 6 807 c.442G>A c.(442-444)GAC>AAC p.D148N GGA1_uc003atd.2_Missense_Mutation_p.D148N|GGA1_uc003ate.2_Missense_Mutation_p.D148N|GGA1_uc003atf.2_Missense_Mutation_p.D75N NM_013365 NP_037497 Q9UJY5 GGA1_HUMAN golgi associated, gamma adaptin ear containing, 148 Interaction with ARF3. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|Golgi apparatus part protein binding breast(2)|ovary(1) 3 Melanoma(58;0.0574) TGTAAAGTCCGACCCCAAGCT 0.532 BAIAP2L2 80115 broad.mit.edu 37 22 38484859 38484859 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:38484859G>A uc003auw.2 - 10 1158 c.1014C>T c.(1012-1014)GGC>GGT p.G338G BAIAP2L2_uc003auv.2_5'Flank NM_025045 NP_079321 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 338 SH3. filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding pancreas(1) 1 Melanoma(58;0.045) TGTGGTTGGCGCCCTCCGAGT 0.602 BAIAP2L2 80115 broad.mit.edu 37 22 38505175 38505175 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:38505175A>G uc003auw.2 - 2 236 c.92T>C c.(91-93)GTG>GCG p.V31A NM_025045 NP_079321 Q6UXY1 BI2L2_HUMAN BAI1-associated protein 2-like 2 31 IMD. filopodium assembly|signal transduction cytoskeletal adaptor activity|SH3 domain binding pancreas(1) 1 Melanoma(58;0.045) GCCCAGGTACACCAGGTTCTC 0.642 MKL1 57591 broad.mit.edu 37 22 40859226 40859226 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:40859226C>T uc003ayv.1 - 1 213 c.6G>A c.(4-6)CCG>CCA p.P2P MKL1_uc003ayw.1_Silent_p.P2P|MKL1_uc010gye.1_Silent_p.P2P|MKL1_uc010gyf.1_Silent_p.P2P|MKL1_uc003ayy.1_RNA NM_020831 NP_065882 Q969V6 MKL1_HUMAN megakaryoblastic leukemia 1 protein 2 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 GGCACTTACGCGGCATGATCC 0.527 T RBM15 acute megakaryocytic leukemia MCHR1 2847 broad.mit.edu 37 22 41077483 41077483 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:41077483C>A uc003ayz.2 + 2 1088 c.820C>A c.(820-822)CTC>ATC p.L274I MCHR1_uc003aza.2_Missense_Mutation_p.L163I NM_005297 NP_005288 Q99705 MCHR1_HUMAN G protein-coupled receptor 24 274 Extracellular (Potential). elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity 0 AGACACTGACCTCTACTGGTT 0.582 ZC3H7B 23264 broad.mit.edu 37 22 41738549 41738549 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:41738549C>A uc003azw.2 + 12 1430 c.1214C>A c.(1213-1215)CCC>CAC p.P405H ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 421 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 CCCTGCATGCCCAACACTGCC 0.602 ZC3H7B 23264 broad.mit.edu 37 22 41751493 41751493 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:41751493G>A uc003azw.2 + 18 2271 c.2055G>A c.(2053-2055)GGG>GGA p.G685G ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 701 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 GGACACATGGGCCCAGCACCT 0.612 ZC3H7B 23264 broad.mit.edu 37 22 41753409 41753409 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:41753409T>C uc003azw.2 + 23 3126 c.2910T>C c.(2908-2910)GCT>GCC p.A970A ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 986 Poly-Ala. interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 CTGCTGCTGCTGCCACCGCCA 0.652 NHP2L1 4809 broad.mit.edu 37 22 42071182 42071182 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:42071182T>C uc003bat.2 - 3 336 c.142A>G c.(142-144)AGG>GGG p.R48G NHP2L1_uc003bau.2_Missense_Mutation_p.R48G|NHP2L1_uc003bav.2_Missense_Mutation_p.R48G|NHP2L1_uc003baw.2_Missense_Mutation_p.R48G NM_005008 NP_004999 P55769 NH2L1_HUMAN NHP2 non-histone chromosome protein 2-like 1 48 nuclear mRNA splicing, via spliceosome|ribosome biogenesis box C/D snoRNP complex|nucleoplasm|spliceosomal complex protein binding|RNA binding 0 GAGATGCCCCTGTTGAGGGTT 0.557 CYP2D6 1565 broad.mit.edu 37 22 42522581 42522581 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:42522581G>A uc003bce.2 - 9 1579 c.1489C>T c.(1489-1491)CGC>TGC p.R497C uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.R191C|CYP2D6_uc003bcf.2_Missense_Mutation_p.R446C NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, 497 electron carrier activity|heme binding|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 breast(1)|skin(1) 2 CCATTCTAGCGGGGCACAGCA 0.587 PACSIN2 11252 broad.mit.edu 37 22 43275116 43275116 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:43275116G>A uc010gzg.2 - 8 1188 c.966C>T c.(964-966)GAC>GAT p.D322D PACSIN2_uc003bdg.3_Silent_p.D322D|PACSIN2_uc003bde.3_Silent_p.D322D|PACSIN2_uc003bdf.3_Silent_p.D322D NM_007229 NP_009160 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in 322 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity 0 Glioma(61;0.222) GGGTGACGCCGTCAGTGGCCT 0.602 EFCAB6 64800 broad.mit.edu 37 22 43933296 43933296 + Missense_Mutation SNP C C T rs142679598 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:43933296C>T uc003bdy.1 - 29 4224 c.4009G>A c.(4009-4011)GTG>ATG p.V1337M EFCAB6_uc003bdz.1_Missense_Mutation_p.V1185M|EFCAB6_uc010gzi.1_Missense_Mutation_p.V1185M NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1337 Interaction with PARK7. 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) TGTCTGGCCACGTCCTTCTCC 0.557 PPARA 5465 broad.mit.edu 37 22 46627911 46627911 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:46627911G>A uc003bgw.1 + 8 1200 c.934G>A c.(934-936)GGA>AGA p.G312R PPARA_uc003bgx.1_Missense_Mutation_p.G312R|PPARA_uc010hab.1_Missense_Mutation_p.G312R|PPARA_uc003bhb.1_Missense_Mutation_p.G312R|PPARA_uc010hac.1_Missense_Mutation_p.G109R NM_005036 NP_005027 Q07869 PPARA_HUMAN peroxisome proliferative activated receptor, 312 Ligand-binding.|Required for heterodimerization with RXRA. fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) GCTAAAATACGGAGTTTATGA 0.483 ALG12 79087 broad.mit.edu 37 22 50301550 50301550 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:50301550C>T uc003biy.2 - 7 1085 c.811G>A c.(811-813)GGC>AGC p.G271S NM_024105 NP_077010 Q9BV10 ALG12_HUMAN alpha-1,6-mannosyltransferase ALG12 271 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane 0 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247) CAGCCCAGGCCGCGGGGCAGG 0.662 PLXNB2 23654 broad.mit.edu 37 22 50716655 50716655 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:50716655C>A uc003bkv.3 - 31 4884 c.4778G>T c.(4777-4779)CGG>CTG p.R1593L PLXNB2_uc003bkt.1_Missense_Mutation_p.R385L|PLXNB2_uc003bku.1_Missense_Mutation_p.R578L NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 1593 Cytoplasmic (Potential). 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) GTCGGTCGGCCGCACCAGGTG 0.672 SAPS2 9701 broad.mit.edu 37 22 50882364 50882364 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:50882364A>G uc003blb.1 + 24 3092 c.2670A>G c.(2668-2670)CCA>CCG p.P890P SAPS2_uc003bky.1_Silent_p.P857P|SAPS2_uc003bkz.1_Silent_p.P856P|SAPS2_uc003blc.2_Silent_p.P883P|SAPS2_uc003bla.1_Silent_p.P857P|SAPS2_uc003bld.1_Silent_p.P416P NM_014678 NP_055493 O75170 PP6R2_HUMAN SAPS domain family, member 2 890 cytoplasm|intracellular membrane-bounded organelle protein binding 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;0.222) CTGCTGCCCCAGCCGTGGCTG 0.662 CHKB 1120 broad.mit.edu 37 22 51020280 51020280 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:51020280G>A uc003bms.2 - 3 563 c.345C>T c.(343-345)TCC>TCT p.S115S CHKB-CPT1B_uc003bmp.2_5'Flank|CHKB-CPT1B_uc003bmt.1_Intron|CHKB-CPT1B_uc003bmu.2_5'UTR|CHKB_uc003bmv.2_Silent_p.S115S|LOC100144603_uc003bmw.3_5'Flank NM_005198 NP_005189 Q9Y259 CHKB_HUMAN choline kinase beta 115 phosphatidylethanolamine biosynthetic process ATP binding|choline kinase activity|ethanolamine kinase activity 0 all_cancers(38;8.8e-15)|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) all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205) Choline(DB00122) CTAGCACCAGGGAGTCCACGC 0.612 SHANK3 85358 broad.mit.edu 37 22 51117231 51117231 + Silent SNP C C T rs79762996 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:51117231C>T uc003bne.1 + 5 483 c.483C>T c.(481-483)AAC>AAT p.N161N NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 161 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) AGCTGGACAACGCCACGGACC 0.652 SHANK3 85358 broad.mit.edu 37 22 51133315 51133315 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:51133315G>A uc003bne.1 + 10 1143 c.1143G>A c.(1141-1143)GGG>GGA p.G381G SHANK3_uc003bnf.1_5'Flank NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 381 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) ACCTGAAGGGGGAGGCACAGC 0.652 SHANK3 85358 broad.mit.edu 37 22 51143260 51143260 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:51143260C>T uc003bne.1 + 16 1914 c.1914C>T c.(1912-1914)GCC>GCT p.A638A SHANK3_uc003bnf.1_Silent_p.A93A NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 638 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) CCTGGAGGGCCGGGCTGCGCA 0.687 CHL1 10752 broad.mit.edu 37 3 382479 382479 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:382479G>A uc003bou.2 + 6 659 c.388G>A c.(388-390)GTT>ATT p.V130I CHL1_uc003bot.2_Missense_Mutation_p.V130I|CHL1_uc003bow.1_Missense_Mutation_p.V130I|CHL1_uc011asi.1_Missense_Mutation_p.V130I NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 130 Ig-like C2-type 2.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TACACCAGGTGTTCCAAAATT 0.333 CNTN6 27255 broad.mit.edu 37 3 1444070 1444070 + Silent SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:1444070T>A uc003boz.2 + 22 3153 c.2886T>A c.(2884-2886)CTT>CTA p.L962L CNTN6_uc011asj.1_Silent_p.L890L|CNTN6_uc003bpa.2_Silent_p.L962L NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 962 Fibronectin type-III 4. 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) CAGCTGAGCTTCTGGTTCCAT 0.363 LMCD1 29995 broad.mit.edu 37 3 8579008 8579008 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:8579008G>A uc003bqq.2 + 3 383 c.269G>A c.(268-270)GGC>GAC p.G90D LMCD1_uc011atd.1_Missense_Mutation_p.G17D|LMCD1_uc011ate.1_Intron|LMCD1_uc011atf.1_Missense_Mutation_p.G17D NM_014583 NP_055398 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 90 positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(96;0.124) GGCGGGGACGGCATCCGGATT 0.532 OXTR 5021 broad.mit.edu 37 3 8809681 8809681 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:8809681G>A uc003brc.2 - 3 815 c.193C>T c.(193-195)CGC>TGC p.R65C NM_000916 NP_000907 P30559 OXYR_HUMAN oxytocin receptor 65 Cytoplasmic (Potential). female pregnancy|lactation|muscle contraction integral to plasma membrane oxytocin receptor activity|vasopressin receptor activity 0 OV - Ovarian serous cystadenocarcinoma(96;0.15) Carbetocin(DB01282) CGTGTGGTGCGCAGCGCCAGC 0.662 TTLL3 26140 broad.mit.edu 37 3 9855027 9855027 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:9855027A>G uc003btg.2 + 4 529 c.313A>G c.(313-315)ATG>GTG p.M105V ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.M105V|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_5'UTR|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_5'Flank NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 105 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) ACATGCTCTGATGGTGAGGGC 0.423 CAND2 23066 broad.mit.edu 37 3 12859303 12859303 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:12859303G>A uc003bxk.2 + 10 2921 c.2872G>A c.(2872-2874)GAG>AAG p.E958K CAND2_uc003bxj.2_Missense_Mutation_p.E865K NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 958 HEAT 20. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 GGTGGTGGCCGAGTGCATTGG 0.657 CAND2 23066 broad.mit.edu 37 3 12872989 12872989 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:12872989G>A uc003bxk.2 + 14 3450 c.3401G>A c.(3400-3402)CGG>CAG p.R1134Q CAND2_uc003bxj.2_Missense_Mutation_p.R1017Q NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 1134 HEAT 24. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 ATGGTTGCCCGGCTGGCCACC 0.597 KCNH8 131096 broad.mit.edu 37 3 19295379 19295379 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:19295379G>A uc003cbk.1 + 2 505 c.310G>A c.(310-312)GGG>AGG p.G104R KCNH8_uc011awe.1_Missense_Mutation_p.G104R|KCNH8_uc010hex.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 104 PAC.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CAAGAAAAACGGTGAGTTGGC 0.413 TRANK1 9881 broad.mit.edu 37 3 36873742 36873742 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:36873742T>C uc003cgj.2 - 12 5852 c.5550A>G c.(5548-5550)CCA>CCG p.P1850P NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2400 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TGGGGATGAGTGGTTCTTTGC 0.488 DLEC1 9940 broad.mit.edu 37 3 38080825 38080825 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:38080825A>G uc003cho.1 + 1 130 c.109A>G c.(109-111)AGC>GGC p.S37G DLEC1_uc003chp.1_Missense_Mutation_p.S37G|DLEC1_uc010hgv.1_Missense_Mutation_p.S37G NM_007335 NP_031361 Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 isoform 37 negative regulation of cell proliferation cytoplasm ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CAGCAGCCCCAGCCAGCCCAC 0.657 SCN11A 11280 broad.mit.edu 37 3 38913774 38913774 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:38913774G>A uc011ays.1 - 20 3604 c.3405C>T c.(3403-3405)ACC>ACT p.T1135T NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1135 III.|Helical; Name=S3 of repeat III; (By similarity). 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) TAATGAGGGTGGTCACAGAGA 0.478 XIRP1 165904 broad.mit.edu 37 3 39226759 39226759 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:39226759C>T uc003cjk.1 - 2 4399 c.4178G>A c.(4177-4179)GGA>GAA p.G1393E XIRP1_uc003cji.2_3'UTR|XIRP1_uc003cjj.2_Missense_Mutation_p.G76E NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1393 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) CTGGCTATGTCCACTGGGACA 0.602 XIRP1 165904 broad.mit.edu 37 3 39227402 39227402 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:39227402G>A uc003cjk.1 - 2 3756 c.3535C>T c.(3535-3537)CGC>TGC p.R1179C XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1179 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) TGGAGTGGGCGGGGAGCCTGG 0.672 XIRP1 165904 broad.mit.edu 37 3 39229837 39229837 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:39229837G>A uc003cjk.1 - 2 1321 c.1100C>T c.(1099-1101)GCC>GTC p.A367V XIRP1_uc003cji.2_Missense_Mutation_p.A367V|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 367 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) CTTGGGTGGGGCCTCTGCTCC 0.577 CCR8 1237 broad.mit.edu 37 3 39374056 39374056 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:39374056C>A uc010hhr.2 + 2 372 c.234C>A c.(232-234)GCC>GCA p.A78A CCR8_uc003cjm.2_Intron NM_005201 NP_005192 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 78 Helical; Name=2; (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) TGAACCTGGCCCTGTCTGACC 0.498 CTNNB1 1499 broad.mit.edu 37 3 41266654 41266654 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:41266654C>T uc010hia.1 + 5 607 c.451C>T c.(451-453)CGT>TGT p.R151C CTNNB1_uc003ckp.2_Missense_Mutation_p.R151C|CTNNB1_uc003ckq.2_Missense_Mutation_p.R151C|CTNNB1_uc003ckr.2_Missense_Mutation_p.R151C|CTNNB1_uc011azf.1_Missense_Mutation_p.R144C|CTNNB1_uc011azg.1_Missense_Mutation_p.R79C|uc010hib.1_5'Flank NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 151 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)|p.A20_R151del(1)|p.A13_R151del(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) ACTTGCCACACGTGCAATCCC 0.428 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of CTNNB1 1499 broad.mit.edu 37 3 41275088 41275088 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:41275088C>A uc010hia.1 + 10 1410 c.1254C>A c.(1252-1254)ACC>ACA p.T418T CTNNB1_uc003ckp.2_Silent_p.T418T|CTNNB1_uc003ckq.2_Silent_p.T418T|CTNNB1_uc003ckr.2_Silent_p.T418T|CTNNB1_uc011azf.1_Silent_p.T411T|CTNNB1_uc011azg.1_Silent_p.T346T|CTNNB1_uc003cks.2_Silent_p.T21T|CTNNB1_uc003ckt.1_5'Flank NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 418 ARM 7. 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) ATGTGGTCACCTGTGCAGCTG 0.443 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of HHATL 57467 broad.mit.edu 37 3 42735237 42735237 + Missense_Mutation SNP C C T rs149595115 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:42735237C>T uc003clw.2 - 11 1267 c.1120G>A c.(1120-1122)GCC>ACC p.A374T HHATL_uc003clx.2_Missense_Mutation_p.A374T NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 374 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.215) GTGGTGATGGCAAATGTGGCC 0.522 ZNF445 353274 broad.mit.edu 37 3 44489074 44489074 + Missense_Mutation SNP C C T rs146656660 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:44489074C>T uc003cnf.2 - 8 2437 c.2089G>A c.(2089-2091)GTT>ATT p.V697I ZNF445_uc011azv.1_Missense_Mutation_p.V685I|ZNF445_uc011azw.1_Missense_Mutation_p.V697I NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 697 C2H2-type 6. 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) TGGTGGTCAACGAGAGTTTTC 0.463 LTF 4057 broad.mit.edu 37 3 46484979 46484979 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:46484979G>A uc003cpq.2 - 13 1646 c.1608C>T c.(1606-1608)TGC>TGT p.C536C LTF_uc003fzr.2_Silent_p.C492C|LTF_uc010hjh.2_Silent_p.C534C|LTF_uc003cpr.2_Silent_p.C523C NM_002343 NP_002334 P02788 TRFL_HUMAN lactotransferrin precursor 536 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity central_nervous_system(2)|ovary(1)|lung(1) 4 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) TGTTGGGCACGCACTTATTCT 0.532 DHX30 22907 broad.mit.edu 37 3 47888257 47888257 + Silent SNP C C T rs151184284 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:47888257C>T uc003cru.2 + 11 2121 c.1695C>T c.(1693-1695)GAC>GAT p.D565D DHX30_uc003crt.2_Silent_p.D526D|MIR1226_hsa-mir-1226|MI0006313_5'Flank NM_138615 NP_619520 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 30 565 Helicase ATP-binding. 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) ATGAGCGGGACGTGAACACAG 0.617 CDC25A 993 broad.mit.edu 37 3 48207221 48207221 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:48207221C>T uc003csh.1 - 12 1460 c.1096G>A c.(1096-1098)GCA>ACA p.A366T CDC25A_uc003csi.1_Missense_Mutation_p.A326T NM_001789 NP_001780 P30304 MPIP1_HUMAN cell division cycle 25A isoform a 366 cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity lung(3)|kidney(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) AAAACAGATGCCATCTGTTGA 0.423 COL7A1 1294 broad.mit.edu 37 3 48629340 48629340 + Missense_Mutation SNP G G A rs139434755 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:48629340G>A uc003ctz.2 - 10 1349 c.1348C>T c.(1348-1350)CGT>TGT p.R450C NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 450 Nonhelical region (NC1).|Fibronectin type-III 3. 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) CCAGTCTCACGCCGCCATTCC 0.632 COL7A1 1294 broad.mit.edu 37 3 48630626 48630626 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:48630626G>A uc003ctz.2 - 5 592 c.591C>T c.(589-591)TTC>TTT p.F197F NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 197 Nonhelical region (NC1).|VWFA 1. FFF -> EFR (in Ref. 4; BAA02853). 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) AGTCATTGACGAAGAAGAAGA 0.562 TMEM89 440955 broad.mit.edu 37 3 48659143 48659143 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:48659143G>A uc011bbo.1 - 1 47 c.47C>T c.(46-48)ACG>ATG p.T16M NM_001008269 NP_001008270 A2RUT3 TMM89_HUMAN transmembrane protein 89 precursor 16 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GGAGGCAGACGTCACCAGCAG 0.672 CELSR3 1951 broad.mit.edu 37 3 48668546 48668546 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:48668546G>A uc003cuf.1 - 45 11229 c.11229C>T c.(11227-11229)ACC>ACT p.T3743T SLC26A6_uc003cug.2_Silent_p.T317T|SLC26A6_uc003cuh.2_Silent_p.T338T|SLC26A6_uc010hke.2_Silent_p.T189T|SLC26A6_uc003cuk.2_Silent_p.T231T|SLC26A6_uc003cui.2_Silent_p.T338T|SLC26A6_uc003cuj.2_Silent_p.T338T|SLC26A6_uc011bbp.1_Silent_p.T302T NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 Error:Variant_position_missing_in_Q9NYQ7_after_alignment 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) AGAACAGCTGGGTGTTGGGGG 0.617 CELSR3 1951 broad.mit.edu 37 3 48669116 48669116 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:48669116T>A uc003cuf.1 - 43 11084 c.11084A>T c.(11083-11085)CAG>CTG p.Q3695L SLC26A6_uc003cug.2_Missense_Mutation_p.Q269L|SLC26A6_uc003cuh.2_Missense_Mutation_p.Q290L|SLC26A6_uc010hke.2_Missense_Mutation_p.Q141L|SLC26A6_uc003cuk.2_Missense_Mutation_p.Q183L|SLC26A6_uc003cui.2_Missense_Mutation_p.Q290L|SLC26A6_uc003cuj.2_Missense_Mutation_p.Q290L|SLC26A6_uc011bbp.1_Missense_Mutation_p.Q254L NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 Error:Variant_position_missing_in_Q9NYQ7_after_alignment 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) CATGGGCAGCTGCTGCTGCAG 0.652 CELSR3 1951 broad.mit.edu 37 3 48696563 48696563 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:48696563G>A uc003cul.2 - 1 3786 c.3505C>T c.(3505-3507)CTC>TTC p.L1169F CELSR3_uc003cuf.1_Missense_Mutation_p.L1239F NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 1169 Extracellular (Potential).|Cadherin 8. 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) AAGTTGTTGAGCACAGGGCTG 0.537 USP19 10869 broad.mit.edu 37 3 49152280 49152280 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:49152280C>T uc003cwd.1 - 14 2060 c.1899G>A c.(1897-1899)CGG>CGA p.R633R USP19_uc003cwa.2_Silent_p.R441R|USP19_uc003cvz.3_Silent_p.R736R|USP19_uc011bcg.1_Silent_p.R724R|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Silent_p.R391R|USP19_uc011bch.1_Silent_p.R734R NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 633 Cytoplasmic (Potential). ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TCATCTTGTGCCGCTGCCATG 0.567 LAMB2 3913 broad.mit.edu 37 3 49159654 49159654 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:49159654G>A uc003cwe.2 - 28 5022 c.4723C>T c.(4723-4725)CGT>TGT p.R1575C USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1575 Domain I. 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) CCTACAGTACGTGCCAGGATC 0.617 MST1R 4486 broad.mit.edu 37 3 49935593 49935593 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:49935593C>A uc003cxy.3 - 5 2035 c.1771G>T c.(1771-1773)GGC>TGC p.G591C MST1R_uc011bdd.1_Missense_Mutation_p.G591C|MST1R_uc011bde.1_Missense_Mutation_p.G591C|MST1R_uc011bdf.1_Missense_Mutation_p.G485C|MST1R_uc011bdc.1_5'Flank NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 591 IPT/TIG 1.|Extracellular (Potential). cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) AAGTTGGAGCCACACAGGGTC 0.597 HYAL2 8692 broad.mit.edu 37 3 50355829 50355829 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:50355829T>C uc003czu.2 - 4 1373 c.1153A>G c.(1153-1155)ACC>GCC p.T385A HYAL2_uc003czx.2_Missense_Mutation_p.T385A|HYAL2_uc003czv.2_Missense_Mutation_p.T385A|HYAL2_uc003czw.2_Missense_Mutation_p.T385A NM_033158 NP_149348 Q12891 HYAL2_HUMAN hyaluronoglucosaminidase 2 precursor 385 EGF-like. anchored to membrane|lysosome|plasma membrane hyalurononglucosaminidase activity|receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) Hyaluronidase(DB00070) TGCAGGAAGGTACTGGCACTG 0.637 TEX264 51368 broad.mit.edu 37 3 51733580 51733580 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:51733580G>T uc010hls.2 + 5 808 c.639G>T c.(637-639)GTG>GTT p.V213V TEX264_uc003dbk.3_Silent_p.V213V|TEX264_uc010hlt.2_Silent_p.V33V|TEX264_uc003dbl.3_Silent_p.V213V|TEX264_uc003dbm.3_Silent_p.V252V NM_001129884 NP_001123356 Q9Y6I9 TX264_HUMAN testis expressed 264 precursor 213 extracellular region 0 BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759) ACACCCAGGTGGATGGCACAG 0.597 DNAH1 25981 broad.mit.edu 37 3 52417962 52417962 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:52417962C>T uc011bef.1 + 52 8498 c.8237C>T c.(8236-8238)CCG>CTG p.P2746L DNAH1_uc003ddv.2_5'Flank NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2746 AAA 4 (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) AACGAGTGGCCGGCAGAAGCC 0.562 STAB1 23166 broad.mit.edu 37 3 52529484 52529484 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:52529484G>T uc003dej.2 + 1 129 c.55G>T c.(55-57)GGC>TGC p.G19C STAB1_uc003dei.1_Missense_Mutation_p.G19C NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 19 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) CTGCCTGGCAGGCTTCAGCTT 0.697 PBRM1 55193 broad.mit.edu 37 3 52623161 52623161 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:52623161C>T uc003des.2 - 18 2902 c.2890G>A c.(2890-2892)GTC>ATC p.V964I PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.V964I|PBRM1_uc003der.2_Missense_Mutation_p.V932I|PBRM1_uc003det.2_Missense_Mutation_p.V979I|PBRM1_uc003deu.2_Missense_Mutation_p.V979I|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.V964I|PBRM1_uc010hmk.1_Missense_Mutation_p.V964I|PBRM1_uc003dey.2_Missense_Mutation_p.V964I|PBRM1_uc003dez.1_Missense_Mutation_p.V963I|PBRM1_uc003dfb.1_Missense_Mutation_p.V876I|PBRM1_uc003dfa.1_Missense_Mutation_p.V310I NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 964 BAH 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCCACATAGACGTAATCTCCA 0.458 Mis|N|F|S|D|O clear cell renal carcinoma|breast ITIH4 3700 broad.mit.edu 37 3 52861147 52861147 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:52861147G>A uc003dfz.2 - 3 354 c.318C>T c.(316-318)AGC>AGT p.S106S ITIH4_uc011bel.1_5'Flank|ITIH4_uc003dfy.2_5'Flank|ITIH4_uc011bem.1_Silent_p.S106S|ITIH4_uc011ben.1_Silent_p.S106S NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 106 VIT. 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) CCACTGCTGCGCTGTACTGTG 0.602 SFMBT1 51460 broad.mit.edu 37 3 52945125 52945125 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:52945125G>A uc003dgf.2 - 18 2369 c.1800C>T c.(1798-1800)TGC>TGT p.C600C SFMBT1_uc010hmr.2_Silent_p.C547C|SFMBT1_uc003dgg.2_Silent_p.C600C|SFMBT1_uc003dgh.2_Silent_p.C600C NM_001005159 NP_001005159 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 600 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) AGGTTTGCCGGCAGAATTCAG 0.438 CACNA1D 776 broad.mit.edu 37 3 53835443 53835443 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:53835443G>C uc003dgv.3 + 42 5562 c.5399G>C c.(5398-5400)AGT>ACT p.S1800T CACNA1D_uc003dgu.3_Missense_Mutation_p.S1820T|CACNA1D_uc003dgy.3_Missense_Mutation_p.S1785T|CACNA1D_uc003dgw.3_Missense_Mutation_p.S1467T|CACNA1D_uc011bes.1_RNA NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1800 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) AGAAGGTCCAGTGTGAAAAGG 0.542 PDE12 201626 broad.mit.edu 37 3 57543207 57543207 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:57543207C>A uc003diw.3 + 1 1227 c.1101C>A c.(1099-1101)GCC>GCA p.A367A PDE12_uc003div.2_Silent_p.A367A NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 367 hydrolase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) CCCTAGAGGCCTTCGGGCTCG 0.532 PTPRG 5793 broad.mit.edu 37 3 61975362 61975362 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:61975362C>A uc003dlb.2 + 3 973 c.254C>A c.(253-255)CCT>CAT p.P85H PTPRG_uc003dlc.2_Missense_Mutation_p.P85H NM_002841 NP_002832 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 85 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) CACCAGTCTCCTATTGACATT 0.488 CADPS 8618 broad.mit.edu 37 3 62385187 62385187 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:62385187C>T uc003dll.2 - 30 4316 c.3956G>A c.(3955-3957)CGG>CAG p.R1319Q CADPS_uc003dlj.1_Missense_Mutation_p.R274Q|CADPS_uc003dlk.1_Missense_Mutation_p.R767Q|CADPS_uc003dlm.2_Missense_Mutation_p.R1280Q|CADPS_uc003dln.2_Missense_Mutation_p.R1240Q NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 1319 Mediates targeting and association with DCVs (By similarity). 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) GAGACGGTTCCGGATCGTTTC 0.498 GPR27 2850 broad.mit.edu 37 3 71804132 71804132 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:71804132G>A uc011bge.1 + 1 932 c.932G>A c.(931-933)CGG>CAG p.R311Q EIF4E3_uc003dox.2_5'Flank|EIF4E3_uc011bgd.1_5'Flank|EIF4E3_uc010hoc.2_5'Flank NM_018971 NP_061844 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 311 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) GTCCTGGTGCGGCCCGGCGCC 0.672 PROS1 5627 broad.mit.edu 37 3 93603719 93603719 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:93603719A>G uc003drb.3 - 12 1686 c.1345T>C c.(1345-1347)TGT>CGT p.C449R PROS1_uc010hoo.2_Missense_Mutation_p.C318R|PROS1_uc003dqz.3_Missense_Mutation_p.C318R NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 449 Laminin G-like 1. C -> S (in PROS1D). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CTTCGTATACATCCATCTAGA 0.348 DCBLD2 131566 broad.mit.edu 37 3 98538224 98538224 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:98538224G>A uc003dtd.2 - 8 1272 c.909C>T c.(907-909)ATC>ATT p.I303I DCBLD2_uc003dte.2_Silent_p.I303I NM_080927 NP_563615 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 303 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 GAGGATCCGCGATCACACCAG 0.443 IMPG2 50939 broad.mit.edu 37 3 100949925 100949925 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:100949925C>T uc003duq.1 - 16 3501 c.3298G>A c.(3298-3300)GTG>ATG p.V1100M IMPG2_uc011bhe.1_Missense_Mutation_p.V963M|IMPG2_uc010hpj.1_Intron NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1100 Helical; (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 CCTATGATCACGGGCTCAGAC 0.502 CBLB 868 broad.mit.edu 37 3 105422838 105422838 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:105422838T>C uc003dwc.2 - 11 1909 c.1587A>G c.(1585-1587)TCA>TCG p.S529S CBLB_uc011bhi.1_Silent_p.S551S|CBLB_uc003dwd.1_Silent_p.S529S|CBLB_uc003dwe.1_Silent_p.S529S NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 529 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 CTACCTTTGGTGAACCCGTTG 0.403 Mis S AML TRAT1 50852 broad.mit.edu 37 3 108572699 108572699 + Missense_Mutation SNP G G A rs79029897 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:108572699G>A uc003dxi.1 + 6 680 c.536G>A c.(535-537)CGT>CAT p.R179H TRAT1_uc010hpx.1_Missense_Mutation_p.R142H NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 179 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 GGATTGATCCGTGCTAAGAGA 0.428 C3orf17 25871 broad.mit.edu 37 3 112732150 112732150 + Missense_Mutation SNP G G A rs34351095 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:112732150G>A uc003dzr.2 - 4 503 c.442C>T c.(442-444)CGC>TGC p.R148C GTPBP8_uc011bhy.1_Intron|C3orf17_uc011bhz.1_Intron|C3orf17_uc010hqh.2_Intron|C3orf17_uc003dzt.2_Missense_Mutation_p.R51C|C3orf17_uc003dzs.2_Missense_Mutation_p.R12C|C3orf17_uc010hqg.2_5'UTR|C3orf17_uc011bia.1_Missense_Mutation_p.P25L|C3orf17_uc003dzu.2_Intron|C3orf17_uc011bib.1_Missense_Mutation_p.R37C|C3orf17_uc011bic.1_Intron|C3orf17_uc011bid.1_Intron NM_015412 NP_056227 Q6NW34 CC017_HUMAN hypothetical protein LOC25871 148 integral to membrane 0 TCCAACAAGCGGAGCAACAAC 0.398 WDR52 55779 broad.mit.edu 37 3 113118803 113118803 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:113118803G>A uc003eae.1 - 13 1565 c.1519C>T c.(1519-1521)CAG>TAG p.Q507* NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 507 WD 5. central_nervous_system(1) 1 AATTTCATCTGGGCCAAAGGA 0.318 GRAMD1C 54762 broad.mit.edu 37 3 113658739 113658739 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:113658739G>A uc003eaq.3 + 16 1774 c.1698G>A c.(1696-1698)TTG>TTA p.L566L GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc003ear.2_Silent_p.L399L|GRAMD1C_uc003eas.2_Silent_p.L361L|GRAMD1C_uc003eat.2_Silent_p.L225L NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 566 Helical; (Potential). integral to membrane ovary(2)|skin(1) 3 CTAGTGTGTTGTTATTAGTTT 0.373 UPK1B 7348 broad.mit.edu 37 3 118909885 118909885 + Silent SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:118909885T>G uc003ecc.2 + 5 491 c.402T>G c.(400-402)CCT>CCG p.P134P UPK1B_uc011bix.1_Silent_p.P54P|UPK1B_uc003ecd.2_Silent_p.P126P NM_006952 NP_008883 O75841 UPK1B_HUMAN uroplakin 1B 134 Extracellular (Potential). epithelial cell differentiation integral to membrane structural molecule activity 0 GBM - Glioblastoma multiforme(114;0.222) ACAACAGCCCTCCAAACAATG 0.483 CD80 941 broad.mit.edu 37 3 119263411 119263411 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:119263411G>A uc003ecq.2 - 3 799 c.404C>T c.(403-405)ACG>ATG p.T135M CD80_uc010hqt.1_Missense_Mutation_p.T135M|CD80_uc010hqu.1_Missense_Mutation_p.T135M|CD80_uc003ecr.1_Missense_Mutation_p.T135M NM_005191 NP_005182 P33681 CD80_HUMAN CD80 antigen precursor 135 Extracellular (Potential).|Ig-like V-type. interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Abatacept(DB01281) GACTGATAACGTCACTTCAGC 0.453 FBXO40 51725 broad.mit.edu 37 3 121341781 121341781 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:121341781G>A uc003eeg.2 + 3 1715 c.1505G>A c.(1504-1506)TGT>TAT p.C502Y NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 502 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) ATTCAGTCATGTCTCAATGGC 0.478 GOLGB1 2804 broad.mit.edu 37 3 121410577 121410577 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:121410577A>G uc003eei.3 - 14 7745 c.7619T>C c.(7618-7620)CTG>CCG p.L2540P GOLGB1_uc010hrc.2_Missense_Mutation_p.L2545P|GOLGB1_uc003eej.3_Missense_Mutation_p.L2506P NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2540 Cytoplasmic (Potential).|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) CACTTGGTTCAGGTCTTCTCT 0.363 CD86 942 broad.mit.edu 37 3 121828183 121828183 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:121828183T>C uc003eet.2 + 5 891 c.775T>C c.(775-777)TGT>CGT p.C259R CD86_uc011bjo.1_Missense_Mutation_p.C177R|CD86_uc011bjp.1_Missense_Mutation_p.C147R|CD86_uc003eeu.2_Missense_Mutation_p.C253R NM_175862 NP_787058 P42081 CD86_HUMAN CD86 antigen isoform 1 259 Helical; (Potential). interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding pancreas(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) AGTTATTATATGTGTGATGGT 0.443 SEMA5B 54437 broad.mit.edu 37 3 122631808 122631808 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:122631808G>A uc003efz.1 - 18 2911 c.2607C>T c.(2605-2607)TGC>TGT p.C869C SEMA5B_uc011bju.1_Silent_p.C811C|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.C869C|SEMA5B_uc003efy.1_5'Flank NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 869 Extracellular (Potential).|TSP type-1 3. 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) AGCCCAGCTCGCAGTCCCGGG 0.731 SEC22A 26984 broad.mit.edu 37 3 122942522 122942522 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:122942522T>C uc003ege.2 + 3 378 c.299T>C c.(298-300)ATG>ACG p.M100T SEC22A_uc003egf.2_Missense_Mutation_p.M100T NM_012430 NP_036562 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A 100 Cytoplasmic (Potential).|Longin. ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.0548) ACTTATAACATGATGAAGACA 0.383 RUVBL1 8607 broad.mit.edu 37 3 127816210 127816210 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:127816210G>A uc003ekh.2 - 8 1053 c.949C>T c.(949-951)CGC>TGC p.R317C RUVBL1_uc003eke.2_Missense_Mutation_p.R58C|RUVBL1_uc003ekf.2_Missense_Mutation_p.R257C|RUVBL1_uc010hss.2_Missense_Mutation_p.R317C NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 317 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) TCCAGGGCGCGGTGCAGGTAG 0.552 RUVBL1 8607 broad.mit.edu 37 3 127816299 127816299 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:127816299A>G uc003ekh.2 - 8 964 c.860T>C c.(859-861)ATC>ACC p.I287T RUVBL1_uc003eke.2_Missense_Mutation_p.I28T|RUVBL1_uc003ekf.2_Missense_Mutation_p.I227T|RUVBL1_uc010hss.2_Missense_Mutation_p.I287T NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 287 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) GCCCTGGTCGATGTACTTGTT 0.562 PLXND1 23129 broad.mit.edu 37 3 129278498 129278498 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:129278498G>A uc003emx.2 - 32 5362 c.5262C>T c.(5260-5262)TCC>TCT p.S1754S PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Silent_p.S422S NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1754 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 TGTCGGGGTCGGAGATTCCCC 0.542 TMCC1 23023 broad.mit.edu 37 3 129373844 129373844 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:129373844C>T uc003emz.3 - 6 2115 c.1614G>A c.(1612-1614)GCG>GCA p.A538A TMCC1_uc003emy.3_Silent_p.A214A|TMCC1_uc011blc.1_Silent_p.A359A|TMCC1_uc010htg.2_Silent_p.A424A NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 538 Potential. integral to membrane skin(1) 1 AGGACTGATACGCGATTTTTT 0.428 CLSTN2 64084 broad.mit.edu 37 3 140277498 140277498 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:140277498G>A uc003etn.2 + 12 2030 c.1840G>A c.(1840-1842)GTA>ATA p.V614I NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 614 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TGGGGAAGACGTATGCATCAG 0.542 HNSCC(16;0.037) SPSB4 92369 broad.mit.edu 37 3 140785500 140785500 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:140785500A>C uc003ett.2 + 2 808 c.554A>C c.(553-555)GAG>GCG p.E185A SPSB4_uc010hum.2_Missense_Mutation_p.E185A NM_080862 NP_543138 Q96A44 SPSB4_HUMAN splA/ryanodine receptor domain and SOCS box 185 B30.2/SPRY. intracellular signal transduction cytoplasm protein binding 0 GACATGGATGAGGGCACACTC 0.662 ACPL2 92370 broad.mit.edu 37 3 141011448 141011448 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:141011448G>A uc003etu.2 + 8 1143 c.844G>A c.(844-846)GTG>ATG p.V282M ACPL2_uc003etv.2_Missense_Mutation_p.V282M|ACPL2_uc011bna.1_Missense_Mutation_p.V244M|ACPL2_uc011bnb.1_Missense_Mutation_p.V265M NM_152282 NP_689495 Q8TE99 ACPL2_HUMAN acid phosphatase-like 2 precursor 282 extracellular region acid phosphatase activity skin(1) 1 GGCCAAGATCGTGGATGTCCC 0.527 GRK7 131890 broad.mit.edu 37 3 141526518 141526518 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:141526518T>C uc011bnd.1 + 3 1166 c.1082T>C c.(1081-1083)ATC>ACC p.I361T NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 361 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 GCTCCTGAGATCCTAATGGAA 0.393 CHST2 9435 broad.mit.edu 37 3 142840728 142840728 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:142840728G>A uc003evm.2 + 2 1959 c.1070G>A c.(1069-1071)CGC>CAC p.R357H NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 357 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 CAGGTGGTGCGCAGCCGAGAC 0.687 ZIC1 7545 broad.mit.edu 37 3 147128224 147128224 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:147128224G>A uc003ewe.2 + 1 1044 c.325G>A c.(325-327)GAC>AAC p.D109N NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 109 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GGGTTTTGGCGACGCGGCGGC 0.706 CP 1356 broad.mit.edu 37 3 148904461 148904461 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:148904461C>T uc003ewy.3 - 11 2176 c.1923G>A c.(1921-1923)TCG>TCA p.S641S CP_uc011bnr.1_Intron|CP_uc003ewx.3_Silent_p.S422S|CP_uc003ewz.2_Silent_p.S641S|CP_uc010hvf.1_Silent_p.S367S NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 641 Plastocyanin-like 4.|F5/8 type A 2. 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) ACCACACGACCGAATCTCCTT 0.438 IGSF10 285313 broad.mit.edu 37 3 151154496 151154496 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:151154496G>A uc011bod.1 - 6 7853 c.7853C>T c.(7852-7854)ACG>ATG p.T2618M IGSF10_uc011bob.1_Missense_Mutation_p.T645M|IGSF10_uc011boc.1_Missense_Mutation_p.T597M NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2618 Ig-like C2-type 12. 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) TTGAATATACGTTGCTGCATA 0.383 PLCH1 23007 broad.mit.edu 37 3 155301352 155301352 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:155301352C>T uc011bok.1 - 5 921 c.644G>A c.(643-645)CGA>CAA p.R215Q PLCH1_uc011boj.1_Missense_Mutation_p.R215Q|PLCH1_uc011bol.1_Missense_Mutation_p.R197Q NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 215 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) ATAAAGGTCTCGTCTCAAAGA 0.383 SHOX2 6474 broad.mit.edu 37 3 157823674 157823674 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:157823674C>T uc003fbr.2 - 1 279 c.140G>A c.(139-141)GGC>GAC p.G47D SHOX2_uc003fbs.2_Missense_Mutation_p.G47D|SHOX2_uc010hvw.2_Missense_Mutation_p.G47D NM_006884 NP_006875 O60902 SHOX2_HUMAN short stature homeobox 2 isoform a 47 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) GTCGTCGCGGCCCGCCTCGGT 0.468 SI 6476 broad.mit.edu 37 3 164709251 164709251 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:164709251G>A uc003fei.2 - 44 5060 c.4998C>T c.(4996-4998)GGC>GGT p.G1666G NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1666 Sucrase.|Lumenal. 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) GTCCTCTGACGCCAATATCTT 0.403 HNSCC(35;0.089) SLITRK3 22865 broad.mit.edu 37 3 164906063 164906063 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:164906063T>C uc003fej.3 - 2 3000 c.2556A>G c.(2554-2556)GGA>GGG p.G852G SLITRK3_uc003fek.2_Silent_p.G852G NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 852 Cytoplasmic (Potential). integral to membrane p.G852E(1) ovary(6)|skin(3)|pancreas(1) 10 CTCCCCCAGTTCCCCCAACTA 0.572 HNSCC(40;0.11) ZBBX 79740 broad.mit.edu 37 3 167000177 167000177 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:167000177A>G uc003fep.2 - 19 2309 c.1986T>C c.(1984-1986)GCT>GCC p.A662A ZBBX_uc011bpc.1_Silent_p.A701A|ZBBX_uc003feq.2_Silent_p.A633A NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 662 Ser-rich. intracellular zinc ion binding ovary(2) 2 ATGATTGAGCAGCTGCACTTC 0.388 WDR49 151790 broad.mit.edu 37 3 167246889 167246889 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:167246889T>C uc003fev.1 - 10 1607 c.1301A>G c.(1300-1302)TAC>TGC p.Y434C WDR49_uc003feu.1_Missense_Mutation_p.Y259C|WDR49_uc011bpd.1_Missense_Mutation_p.Y498C|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 434 WD 7. large_intestine(1)|ovary(1)|skin(1) 3 TGTGGTAAGGTATCGATTCAT 0.343 LRRIQ4 344657 broad.mit.edu 37 3 169546704 169546704 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:169546704A>G uc003fgb.2 + 2 1178 c.1178A>G c.(1177-1179)CAC>CGC p.H393R NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 393 LRR 16. 0 GTGCCAGAACACATTAGGAAA 0.443 EIF5A2 56648 broad.mit.edu 37 3 170625432 170625432 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:170625432T>C uc003fhd.2 - 2 294 c.164A>G c.(163-165)AAG>AGG p.K55R NM_020390 NP_065123 Q9GZV4 IF5A2_HUMAN eIF-5A2 protein 55 mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport cytosol|endoplasmic reticulum membrane|nuclear pore protein binding|ribosome binding|translation elongation factor activity 0 all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15) GGTACTTACCTTGGCATGACC 0.443 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). 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.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(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) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) FXR1 8087 broad.mit.edu 37 3 180669105 180669105 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:180669105C>T uc003fkq.2 + 8 672 c.650C>T c.(649-651)GCA>GTA p.A217V FXR1_uc003fkp.2_Missense_Mutation_p.A132V|FXR1_uc003fkr.2_Missense_Mutation_p.A217V|FXR1_uc011bqj.1_Missense_Mutation_p.A131V|FXR1_uc003fks.2_Missense_Mutation_p.A131V|FXR1_uc011bqk.1_Missense_Mutation_p.A168V|FXR1_uc011bql.1_Missense_Mutation_p.A204V NM_005087 NP_005078 P51114 FXR1_HUMAN fragile X mental retardation-related protein 1 217 apoptosis|cell differentiation|muscle organ development nucleolus|polysome breast(1) 1 all_cancers(143;6.07e-14)|Ovarian(172;0.0212) Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22) CAACTTGCAGCAGCTTTTCAT 0.333 ATP11B 23200 broad.mit.edu 37 3 182631688 182631688 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:182631688A>G uc003flb.2 + 29 3615 c.3358A>G c.(3358-3360)ATG>GTG p.M1120V ATP11B_uc003flc.2_Missense_Mutation_p.M704V|ATP11B_uc010hxg.2_RNA|ATP11B_uc010hxh.1_3'UTR NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 1120 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) CTTGGACTCCATGTGCTGTTT 0.453 DCUN1D1 54165 broad.mit.edu 37 3 182679028 182679028 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:182679028C>T uc003fld.1 - 4 555 c.506G>A c.(505-507)GGA>GAA p.G169E DCUN1D1_uc011bqn.1_Missense_Mutation_p.G26E NM_020640 NP_065691 Q96GG9 DCNL1_HUMAN RP42 homolog 169 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) TCCTTTTTGTCCTGGATTCTT 0.299 EIF2B5 8893 broad.mit.edu 37 3 183858374 183858374 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:183858374T>C uc003fmp.2 + 7 1376 c.1012T>C c.(1012-1014)TCC>CCC p.S338P EIF2B5_uc003fmq.2_Missense_Mutation_p.S59P|EIF2B5_uc003fmr.2_5'Flank NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, 338 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) CTGCACTCATTCCCGGCACAA 0.587 FAM131A 131408 broad.mit.edu 37 3 184062596 184062596 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:184062596C>A uc003fog.2 + 3 2210 c.846C>A c.(844-846)TCC>TCA p.S282S FAM131A_uc003fob.1_Intron|FAM131A_uc003foc.2_Silent_p.S228S|FAM131A_uc003foe.2_Silent_p.S228S NM_144635 NP_653236 Q6UXB0 F131A_HUMAN hypothetical protein LOC131408 precursor 282 extracellular region breast(1) 1 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TCACAGAGTCCTGCCTTTCCC 0.672 THPO 7066 broad.mit.edu 37 3 184093704 184093704 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:184093704C>T uc003fol.1 - 3 328 c.113G>A c.(112-114)CGT>CAT p.R38H THPO_uc003fom.1_Missense_Mutation_p.R38H|THPO_uc003fon.2_Missense_Mutation_p.R38H|THPO_uc011bro.1_Missense_Mutation_p.R38H|THPO_uc003fop.2_Missense_Mutation_p.R38H|THPO_uc011brp.1_Missense_Mutation_p.R38H|THPO_uc011brq.1_Missense_Mutation_p.R38H|THPO_uc003for.1_5'Flank|THPO_uc003fos.1_5'Flank|THPO_uc003fot.1_Missense_Mutation_p.R38H|THPO_uc003fou.1_Missense_Mutation_p.R38H NM_000460 NP_000451 P40225 TPO_HUMAN thrombopoietin precursor 38 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) ATGGGAGTCACGAAGCAGTTT 0.532 LIPH 200879 broad.mit.edu 37 3 185252860 185252860 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:185252860G>A uc003fpm.2 - 2 220 c.110C>T c.(109-111)ACG>ATG p.T37M LIPH_uc010hyh.2_Missense_Mutation_p.T37M NM_139248 NP_640341 Q8WWY8 LIPH_HUMAN lipase, member H precursor 37 lipid catabolic process extracellular space|plasma membrane heparin binding|phospholipase activity ovary(1)|pancreas(1) 2 all_cancers(143;8.87e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) ATTTAGTCCCGTACCAACCAC 0.453 RTP1 132112 broad.mit.edu 37 3 186917853 186917853 + Missense_Mutation SNP G G A rs144665722 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:186917853G>A uc003frg.2 + 2 817 c.787G>A c.(787-789)GTA>ATA p.V263I NM_153708 NP_714919 P59025 RTP1_HUMAN receptor transporting protein 1 263 Extracellular (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding ovary(2)|breast(1) 3 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) CCGTAGCTCCGTATAAGATTC 0.547 RTP2 344892 broad.mit.edu 37 3 187416493 187416493 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:187416493G>T uc003fro.1 - 2 900 c.471C>A c.(469-471)GCC>GCA p.A157A NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 157 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) CCTCCTGGCAGGCCTCACAGA 0.672 LRRC15 131578 broad.mit.edu 37 3 194080099 194080099 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:194080099G>A uc003ftu.2 - 2 1760 c.1674C>T c.(1672-1674)TGC>TGT p.C558C LRRC15_uc003ftt.2_Silent_p.C564C NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 558 Helical; (Potential). integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) AACAGCCGACGCAGGCAGCCA 0.612 FAM43A 131583 broad.mit.edu 37 3 194407692 194407692 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:194407692C>T uc003fuj.2 + 1 1071 c.137C>T c.(136-138)GCG>GTG p.A46V NM_153690 NP_710157 Q8N2R8 FA43A_HUMAN hypothetical protein LOC131583 46 central_nervous_system(1) 1 all_cancers(143;2.04e-08)|Ovarian(172;0.0634) Lung NSC(153;0.147) OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.78e-05) CCCGAAGGCGCGCTTAGCCGG 0.682 MUC4 4585 broad.mit.edu 37 3 195516403 195516403 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:195516403G>A uc011bto.1 - 2 2508 c.2048C>T c.(2047-2049)CCT>CTT p.P683L MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.P565L NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 688 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGCGTCCTGAGGAACAATTTC 0.602 TNK2 10188 broad.mit.edu 37 3 195595140 195595140 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:195595140C>T uc003fvu.1 - 12 2527 c.1984G>A c.(1984-1986)GGG>AGG p.G662R TNK2_uc003fvq.1_Missense_Mutation_p.G69R|TNK2_uc003fvr.1_Missense_Mutation_p.G187R|TNK2_uc003fvs.1_Missense_Mutation_p.G694R|TNK2_uc003fvt.1_Missense_Mutation_p.G740R|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR NM_005781 NP_005772 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 isoform 1 662 Pro-rich. Missing (in Ref. 4; AAH08884). 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) TGGCTGGGCCCGGCAGGGACC 0.706 WHSC1 7468 broad.mit.edu 37 4 1953859 1953859 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:1953859C>T uc003gdz.3 + 11 2214 c.2038C>T c.(2038-2040)CTG>TTG p.L680L WHSC1_uc003geb.3_Silent_p.L680L|WHSC1_uc003gec.3_Silent_p.L680L|WHSC1_uc003ged.3_Silent_p.L680L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_5'UTR|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_5'UTR NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 680 PHD-type 1. 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) GGGCAGCCTCCTGCTCTGTGA 0.657 T IGH@ MM WHSC1 7468 broad.mit.edu 37 4 1957027 1957027 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:1957027C>T uc003gdz.3 + 13 2654 c.2478C>T c.(2476-2478)CAC>CAT p.H826H WHSC1_uc003geb.3_Silent_p.H826H|WHSC1_uc003gec.3_Silent_p.H826H|WHSC1_uc003ged.3_Silent_p.H826H|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Silent_p.H45H|WHSC1_uc011bvh.1_Translation_Start_Site|WHSC1_uc010icf.2_Silent_p.H174H NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 826 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) AGCGACACCACGCCCACGTCA 0.612 T IGH@ MM POLN 353497 broad.mit.edu 37 4 2073999 2073999 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:2073999C>T uc003ger.2 - 24 2545 c.2545G>A c.(2545-2547)GGC>AGC p.G849S POLN_uc010icg.1_Missense_Mutation_p.G288S NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 849 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) CATGAGCGGCCGGCACTCAGG 0.706 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage ZFYVE28 57732 broad.mit.edu 37 4 2273491 2273491 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:2273491C>T uc003gex.1 - 11 2658 c.2339G>A c.(2338-2340)CGG>CAG p.R780Q ZFYVE28_uc011bvk.1_Missense_Mutation_p.R710Q|ZFYVE28_uc011bvl.1_Missense_Mutation_p.R750Q|ZFYVE28_uc003gew.1_Missense_Mutation_p.R666Q NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 780 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 GGCCGCACTCCGCAGAGTCTG 0.627 MFSD10 10227 broad.mit.edu 37 4 2934080 2934080 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:2934080G>A uc003gfw.2 - 5 1005 c.691C>T c.(691-693)CGG>TGG p.R231W MFSD10_uc003gfv.2_5'Flank|MFSD10_uc003gfx.2_Missense_Mutation_p.R55W|MFSD10_uc003gfz.2_Missense_Mutation_p.R231W|MFSD10_uc003gfy.2_RNA|MFSD10_uc003gga.2_Missense_Mutation_p.R231W|MFSD10_uc003ggb.1_Missense_Mutation_p.R231W|MFSD10_uc003ggc.2_Missense_Mutation_p.R231W|C4orf10_uc003ggd.1_5'Flank|C4orf10_uc003gge.1_5'Flank NM_001120 NP_001111 Q14728 MFS10_HUMAN major facilitator superfamily domain containing 231 apoptosis integral to membrane tetracycline transporter activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) AGCCCTACCCGTTTCTCCAGG 0.622 RGS12 6002 broad.mit.edu 37 4 3319330 3319330 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:3319330C>T uc003ggw.2 + 2 2337 c.1433C>T c.(1432-1434)CCG>CTG p.P478L RGS12_uc003ggu.2_Missense_Mutation_p.P478L|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.P478L|RGS12_uc003ggx.1_Missense_Mutation_p.P478L NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 478 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CCCTTCTGTCCGGACCCCGAA 0.687 HGFAC 3083 broad.mit.edu 37 4 3443797 3443797 + Silent SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:3443797C>G uc003ghc.2 + 1 72 c.69C>G c.(67-69)CTC>CTG p.L23L HGFAC_uc010icw.2_Silent_p.L23L NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 23 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TCCTCCTCCTCCTGCTGCTGC 0.716 HGFAC 3083 broad.mit.edu 37 4 3450979 3450979 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:3450979C>G uc003ghc.2 + 14 1804 c.1801C>G c.(1801-1803)CCC>GCC p.P601A HGFAC_uc010icw.2_Missense_Mutation_p.P608A NM_001528 NP_001519 Q04756 HGFA_HUMAN HGF activator preproprotein 601 Peptidase S1. proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(2) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CTCAGGGGGGCCCCTGGCCTG 0.692 EVC 2121 broad.mit.edu 37 4 5733255 5733255 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:5733255G>T uc003gil.1 + 4 672 c.488G>T c.(487-489)AGC>ATC p.S163I EVC_uc003gim.1_RNA NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 163 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) AGTCTGGGGAGCCTGAGCCAG 0.607 MAN2B2 23324 broad.mit.edu 37 4 6599981 6599981 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:6599981C>T uc003gjf.1 + 9 1341 c.1305C>T c.(1303-1305)TAC>TAT p.Y435Y MAN2B2_uc003gje.1_Silent_p.Y435Y|MAN2B2_uc011bwf.1_Silent_p.Y384Y NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 435 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 GAGACATGTACGCAACGCACC 0.632 MAN2B2 23324 broad.mit.edu 37 4 6610942 6610942 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:6610942G>T uc003gjf.1 + 12 1959 c.1923G>T c.(1921-1923)AAG>AAT p.K641N MAN2B2_uc003gje.1_Missense_Mutation_p.K641N|MAN2B2_uc011bwf.1_Missense_Mutation_p.K590N NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 641 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 CACCGGGCAAGGCCGCGGTGC 0.592 SORCS2 57537 broad.mit.edu 37 4 7533275 7533275 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:7533275G>A uc003gkb.3 + 3 567 c.567G>A c.(565-567)ACG>ACA p.T189T SORCS2_uc011bwi.1_Silent_p.T17T NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 189 BNR 1.|Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 ATTTCGGGACGTCCTACACCA 0.602 CPEB2 132864 broad.mit.edu 37 4 15054156 15054156 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:15054156A>G uc003gni.1 + 6 1071 c.984A>G c.(982-984)GAA>GAG p.E328E CPEB2_uc003gnj.1_Silent_p.E298E|CPEB2_uc003gnk.1_Silent_p.E336E|CPEB2_uc003gnl.1_Silent_p.E309E|CPEB2_uc003gnm.1_Silent_p.E306E|CPEB2_uc003gnn.1_Silent_p.E301E NM_182485 NP_872291 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding 328 regulation of translation cytoplasm nucleotide binding|RNA binding skin(1) 1 AGCGAATAGAACGCTTCTCTC 0.368 FGFBP1 9982 broad.mit.edu 37 4 15938205 15938205 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:15938205C>A uc003gom.2 - 2 169 c.51G>T c.(49-51)CAG>CAT p.Q17H NM_005130 NP_005121 Q14512 FGFP1_HUMAN fibroblast growth factor binding protein 1 17 cell-cell signaling|negative regulation of cell proliferation|signal transduction extracellular space|plasma membrane heparin binding 0 CCAGGAGCACCTGAGCAGCCA 0.512 GPR125 166647 broad.mit.edu 37 4 22389706 22389706 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:22389706C>T uc003gqm.1 - 19 3853 c.3588G>A c.(3586-3588)ACG>ACA p.T1196T GPR125_uc010ieo.1_Silent_p.T1052T|GPR125_uc003gql.1_Silent_p.T323T NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 1196 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) CTTCCACGCTCGTTGGGACAT 0.517 DHX15 1665 broad.mit.edu 37 4 24534668 24534668 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:24534668G>A uc003gqx.2 - 12 2087 c.1919C>T c.(1918-1920)TCG>TTG p.S640L DHX15_uc003gqv.2_Missense_Mutation_p.S46L|DHX15_uc003gqw.2_Missense_Mutation_p.S63L NM_001358 NP_001349 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 15 640 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) CCACTGAACCGATTCATGATC 0.388 TLR1 7096 broad.mit.edu 37 4 38799940 38799940 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:38799940T>C uc003gtl.2 - 4 787 c.513A>G c.(511-513)TTA>TTG p.L171L NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 171 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 AAGTCTCTCCTAAGACCAGCA 0.418 BEND4 389206 broad.mit.edu 37 4 42119657 42119657 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:42119657G>A uc003gwn.2 - 6 2063 c.1483C>T c.(1483-1485)CGA>TGA p.R495* BEND4_uc003gwm.2_3'UTR NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 495 BEN. 0 CGCCCCTGTCGGGCGTGACCG 0.522 PDGFRA 5156 broad.mit.edu 37 4 54250025 54250025 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:54250025C>T uc003haa.2 + 5 500 c.314C>T c.(313-315)ACG>ATG p.T105M FIP1L1_uc003gzx.3_Missense_Mutation_p.T90M|FIP1L1_uc011bzt.1_Missense_Mutation_p.T105M|FIP1L1_uc003gzy.2_Missense_Mutation_p.T105M|FIP1L1_uc011bzu.1_Missense_Mutation_p.T90M|FIP1L1_uc003gzz.2_Missense_Mutation_p.T90M|FIP1L1_uc003hab.2_Missense_Mutation_p.T93M|FIP1L1_uc003hac.2_Intron NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha Error:Variant_position_missing_in_P16234_after_alignment 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) GACATTAAAACGGGAGCACCA 0.274 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) REST 5978 broad.mit.edu 37 4 57796802 57796802 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:57796802G>A uc003hch.2 + 4 2125 c.1778G>A c.(1777-1779)AGT>AAT p.S593N REST_uc003hci.2_Missense_Mutation_p.S593N|REST_uc010ihf.2_Missense_Mutation_p.S267N NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 593 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) AAGAAAAGCAGTAAGCCTCCT 0.453 EPHA5 2044 broad.mit.edu 37 4 66233108 66233108 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:66233108C>T uc003hcy.2 - 10 2084 c.1891G>A c.(1891-1893)GAA>AAA p.E631K EPHA5_uc003hcx.2_Missense_Mutation_p.E563K|EPHA5_uc003hcz.2_Missense_Mutation_p.E609K|EPHA5_uc011cah.1_Missense_Mutation_p.E632K|EPHA5_uc011cai.1_Missense_Mutation_p.E610K|EPHA5_uc003hda.2_Missense_Mutation_p.E632K NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 631 Cytoplasmic (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 TTTTCCTCTTCTGGATCTTGT 0.358 TSP Lung(17;0.13) UGT2B11 10720 broad.mit.edu 37 4 70070285 70070285 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:70070285C>A uc003heh.2 - 5 1182 c.1173G>T c.(1171-1173)GTG>GTT p.V391V uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 391 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 ATGGAATGCCCACCATAGGGA 0.438 UTP3 57050 broad.mit.edu 37 4 71554418 71554418 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:71554418C>T uc003hfo.2 + 1 223 c.24C>T c.(22-24)CGC>CGT p.R8R NM_020368 NP_065101 Q9NQZ2 SAS10_HUMAN UTP3, small subunit processome component 8 brain development|chromatin modification|gene silencing nucleolus 0 Lung(101;0.235) CCCGGCGGCGCGGAGCAGCTA 0.612 SHROOM3 57619 broad.mit.edu 37 4 77678005 77678005 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:77678005C>T uc011cbx.1 + 8 6066 c.5113C>T c.(5113-5115)CGA>TGA p.R1705* SHROOM3_uc003hkg.2_Nonsense_Mutation_p.R1483* NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN shroom family member 3 protein 1705 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) TTTGTTTCCCCGAGATGTGAA 0.473 CNOT6L 246175 broad.mit.edu 37 4 78669516 78669516 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:78669516C>T uc011ccd.1 - 6 644 c.513G>A c.(511-513)CCG>CCA p.P171P CNOT6L_uc003hks.2_Silent_p.P171P|CNOT6L_uc003hkt.1_Silent_p.P14P|CNOT6L_uc011cce.1_Silent_p.P171P NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 171 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding large_intestine(1) 1 TCCATGGCCTCGGAGGAAGCT 0.303 BMP2K 55589 broad.mit.edu 37 4 79832739 79832739 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:79832739G>A uc003hlk.2 + 16 3204 c.3038G>A c.(3037-3039)CGC>CAC p.R1013H PAQR3_uc003hlm.2_Intron|PAQR3_uc003hln.2_Intron|uc010ijm.1_5'Flank NM_198892 NP_942595 Q9NSY1 BMP2K_HUMAN BMP-2 inducible kinase isoform a 1013 nucleus ATP binding|protein serine/threonine kinase activity lung(1) 1 CCTACCTATCGCACTCCAGAG 0.488 C4orf22 255119 broad.mit.edu 37 4 81256977 81256977 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:81256977G>A uc003hmf.2 + 1 104 c.55G>A c.(55-57)GCC>ACC p.A19T C4orf22_uc010ijp.2_Missense_Mutation_p.A19T NM_152770 NP_689983 Q6V702 CD022_HUMAN hypothetical protein LOC255119 19 skin(2) 2 TCAATTCAACGCCTATGAAGA 0.582 OREG0016247 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) COQ2 27235 broad.mit.edu 37 4 84194759 84194759 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:84194759T>C uc003hog.2 - 3 479 c.471A>G c.(469-471)ACA>ACG p.T157T COQ2_uc011ccp.1_RNA|COQ2_uc003hof.2_RNA|COQ2_uc003hoh.1_Silent_p.T157T NM_015697 NP_056512 Q96H96 COQ2_HUMAN para-hydroxybenzoate-polyprenyltransferase, 144 glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrial membrane 4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity ovary(1)|central_nervous_system(1) 2 Hepatocellular(203;0.114) GACGATTGGCTGTTCTTGTAA 0.403 NHEDC1 150159 broad.mit.edu 37 4 103832695 103832695 + Splice_Site SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:103832695C>A uc003hww.2 - 8 952 c.830_splice c.e8-1 p.G277_splice NHEDC1_uc003hwu.2_Splice_Site_p.G277_splice|NHEDC1_uc010ilm.2_Splice_Site_p.G44_splice|NHEDC1_uc003hwv.2_Splice_Site|NHEDC1_uc011cev.1_Splice_Site_p.G50_splice NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) AGTATACCACCTGTAGGGGCA 0.358 COL25A1 84570 broad.mit.edu 37 4 110223028 110223028 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:110223028G>T uc003hze.1 - 2 679 c.148C>A c.(148-150)CTG>ATG p.L50M COL25A1_uc003hzg.2_Missense_Mutation_p.L50M|COL25A1_uc003hzh.1_Missense_Mutation_p.L50M NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 50 Helical; Signal-anchor for type II membrane protein; (Potential). collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) CCCAGGTACAGGCAAGACACC 0.642 PITX2 5308 broad.mit.edu 37 4 111539685 111539685 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:111539685G>T uc003iad.2 - 5 1132 c.550C>A c.(550-552)CTT>ATT p.L184I PITX2_uc003iac.2_Missense_Mutation_p.L191I|PITX2_uc003iae.2_Missense_Mutation_p.L138I|PITX2_uc010iml.2_Missense_Mutation_p.L55I|PITX2_uc003iaf.2_Missense_Mutation_p.L184I NM_153426 NP_700475 Q99697 PITX2_HUMAN paired-like homeodomain transcription factor 2 184 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) GCGGATGTAAGGCCCTTGGCG 0.542 C4orf21 55345 broad.mit.edu 37 4 113524697 113524697 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:113524697G>A uc003iau.2 - 10 3170 c.2959C>T c.(2959-2961)CAG>TAG p.Q987* C4orf21_uc003iaw.2_Nonsense_Mutation_p.Q987* 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) AAGTCAATCTGCATACACGTG 0.353 ANK2 287 broad.mit.edu 37 4 114275426 114275426 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:114275426G>A uc003ibe.3 + 38 5752 c.5652G>A c.(5650-5652)TCG>TCA p.S1884S ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.S1899S NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1851 Repeat A.|Repeat-rich region. 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) TATCACCCTCGACAAAAACTG 0.468 ANK2 287 broad.mit.edu 37 4 114294462 114294462 + Missense_Mutation SNP C C T rs121912706 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:114294462C>T uc003ibe.3 + 45 11816 c.11716C>T c.(11716-11718)CGG>TGG p.R3906W ANK2_uc003ibd.3_Missense_Mutation_p.R1812W|ANK2_uc003ibf.3_Missense_Mutation_p.R1821W|ANK2_uc011cgc.1_Missense_Mutation_p.R997W|ANK2_uc003ibg.3_Missense_Mutation_p.R836W|ANK2_uc003ibh.3_Missense_Mutation_p.R526W|ANK2_uc011cgd.1_Missense_Mutation_p.R1208W|ANK2_uc010imr.2_5'UTR|ANK2_uc010ims.2_5'UTR NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3873 R -> W (in LQT4; loss of function). axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding p.R3906Q(1) 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) AATCATTAGGCGGTATGTATC 0.388 TNIP3 79931 broad.mit.edu 37 4 122078256 122078256 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:122078256C>T uc010ing.2 - 4 552 c.356G>A c.(355-357)CGG>CAG p.R119Q TNIP3_uc010inh.2_Missense_Mutation_p.R119Q|TNIP3_uc011cgj.1_Missense_Mutation_p.R177Q|TNIP3_uc010ini.2_Missense_Mutation_p.R119Q NM_024873 NP_079149 Q96KP6 TNIP3_HUMAN TNFAIP3 interacting protein 3 119 Potential. ovary(1) 1 CACCTCCTCCCGCTGCAGCCG 0.612 SPRY1 10252 broad.mit.edu 37 4 124323694 124323694 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:124323694T>C uc003ifa.2 + 2 1136 c.948T>C c.(946-948)GGT>GGC p.G316G SPRY1_uc003ifb.2_Silent_p.G316G NM_199327 NP_955359 O43609 SPY1_HUMAN sprouty homolog 1, antagonist of FGF signaling 316 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane skin(2)|ovary(1) 3 GGGGTCAGGGTAAACCATCAT 0.428 FAT4 79633 broad.mit.edu 37 4 126238513 126238513 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:126238513G>A uc003ifj.3 + 1 947 c.947G>A c.(946-948)CGG>CAG p.R316Q NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 316 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TTCGAAGCTCGGCGCCAATAC 0.632 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SCLT1 132320 broad.mit.edu 37 4 129891618 129891618 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:129891618G>T uc003igp.2 - 10 1198 c.692C>A c.(691-693)GCC>GAC p.A231D SCLT1_uc003ign.2_5'UTR|SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Intron|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 231 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 CTCTAATTTGGCTTGCCTAAA 0.303 PCDH10 57575 broad.mit.edu 37 4 134071702 134071702 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:134071702C>T uc003iha.2 + 1 1233 c.407C>T c.(406-408)ACG>ATG p.T136M uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.T136M NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 136 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GAGAGCGCCACGCCAGGCACT 0.602 PCDH10 57575 broad.mit.edu 37 4 134071743 134071743 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:134071743G>A uc003iha.2 + 1 1274 c.448G>A c.(448-450)GAC>AAC p.D150N uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.D150N NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 150 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) ATTCGACCCAGACGTGGGCAC 0.622 PCDH10 57575 broad.mit.edu 37 4 134073210 134073210 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:134073210C>T uc003iha.2 + 1 2741 c.1915C>T c.(1915-1917)CGC>TGC p.R639C uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R639C NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 639 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CGGGGAGCTGCGCACAGCACG 0.677 PCDH10 57575 broad.mit.edu 37 4 134073362 134073362 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:134073362C>T uc003iha.2 + 1 2893 c.2067C>T c.(2065-2067)GGC>GGT p.G689G PCDH10_uc003igz.2_Silent_p.G689G NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 689 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) Agggcgggggcgggagcggag 0.582 DCLK2 166614 broad.mit.edu 37 4 151141893 151141893 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:151141893C>T uc003ilm.3 + 6 1195 c.1095C>T c.(1093-1095)AAC>AAT p.N365N DCLK2_uc003iln.3_Silent_p.N364N|DCLK2_uc003ilo.3_Silent_p.N382N|DCLK2_uc003ilp.3_RNA NM_001040260 NP_001035350 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 isoform a 365 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity ovary(3) 3 all_hematologic(180;0.151) CCAATGTAAACGGTGGACCTG 0.418 MAB21L2 10586 broad.mit.edu 37 4 151504537 151504537 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:151504537C>T uc003ilw.2 + 1 1461 c.356C>T c.(355-357)GCG>GTG p.A119V LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN mab-21-like protein 2 119 nervous system development nucleus ovary(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) TTCATCACGGCGTCGGGCTAT 0.612 FBXW7 55294 broad.mit.edu 37 4 153258955 153258955 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:153258955T>A uc003ims.2 - 5 1009 c.860A>T c.(859-861)GAG>GTG p.E287V FBXW7_uc011cii.1_Missense_Mutation_p.E287V|FBXW7_uc003imt.2_Missense_Mutation_p.E287V|FBXW7_uc011cih.1_Missense_Mutation_p.E111V|FBXW7_uc003imq.2_Missense_Mutation_p.E207V|FBXW7_uc003imr.2_Missense_Mutation_p.E169V NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 287 F-box. 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) AATCTTTACCTCTTTAGGGAG 0.343 Mis|N|D|F colorectal|endometrial|T-ALL TMEM154 201799 broad.mit.edu 37 4 153573938 153573938 + Missense_Mutation SNP G G A rs147009220 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:153573938G>A uc003imw.1 - 2 312 c.206C>T c.(205-207)CCG>CTG p.P69L NM_152680 NP_689893 Q6P9G4 TM154_HUMAN transmembrane protein 154 precursor 69 Extracellular (Potential). integral to membrane 0 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) ATTTTCATCCGGAGCAAAGTT 0.338 SFRP2 6423 broad.mit.edu 37 4 154709514 154709514 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:154709514G>A uc003inv.1 - 1 715 c.474C>T c.(472-474)AGC>AGT p.S158S NM_003013 NP_003004 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 precursor 158 brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.093) Renal(120;0.117) GGAGGTGGTCGCTGCTAGCGA 0.667 PLRG1 5356 broad.mit.edu 37 4 155458475 155458475 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:155458475T>C uc003iny.2 - 14 1511 c.1448A>G c.(1447-1449)GAT>GGT p.D483G PLRG1_uc003inz.2_Missense_Mutation_p.D474G NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 483 WD 7. catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) AATGGTTTTATCAGCTTCAGC 0.403 CTSO 1519 broad.mit.edu 37 4 156849509 156849509 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:156849509T>C uc003ipg.2 - 7 959 c.910A>G c.(910-912)AAA>GAA p.K304E NM_001334 NP_001325 P43234 CATO_HUMAN cathepsin O preproprotein 304 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) CTTCCCATTTTGACATGGGCA 0.343 GRIA2 2891 broad.mit.edu 37 4 158254082 158254082 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:158254082G>T uc003ipm.3 + 7 1453 c.994G>T c.(994-996)GCA>TCA p.A332S GRIA2_uc011cit.1_Missense_Mutation_p.A285S|GRIA2_uc003ipl.3_Missense_Mutation_p.A332S|GRIA2_uc003ipk.3_Missense_Mutation_p.A285S|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 332 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) AGACTGTCTGGCAAACCCAGC 0.473 NAF1 92345 broad.mit.edu 37 4 164050264 164050264 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:164050264A>G uc003iqj.2 - 8 1464 c.1270T>C c.(1270-1272)TTT>CTT p.F424L NAF1_uc010iqw.1_Intron NM_138386 NP_612395 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 homolog isoform a 424 Pro-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding ovary(2) 2 all_hematologic(180;0.166) Prostate(90;0.109) GGAAGAGGAAAGGGGTATTGT 0.378 TKTL2 84076 broad.mit.edu 37 4 164393458 164393458 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:164393458T>C uc003iqp.3 - 1 1590 c.1429A>G c.(1429-1431)AGC>GGC p.S477G NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 477 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) TCTGGTTGGCTGGTTCGAATG 0.443 TKTL2 84076 broad.mit.edu 37 4 164394838 164394838 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:164394838G>A uc003iqp.3 - 1 210 c.49C>T c.(49-51)CGG>TGG p.R17W NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 17 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) GCTGTGTCCCGCAGCACCTGC 0.632 SH3RF1 57630 broad.mit.edu 37 4 170038835 170038835 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:170038835G>T uc003isa.1 - 9 1951 c.1616C>A c.(1615-1617)CCT>CAT p.P539H SH3RF1_uc010irc.1_Missense_Mutation_p.P239H NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 539 Interaction with AKT2 (By similarity). Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CTTCTGGGCAGGCCCTCCTGC 0.587 GPM6A 2823 broad.mit.edu 37 4 176594945 176594945 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:176594945C>T uc003iuf.2 - 3 1077 c.273G>A c.(271-273)GCG>GCA p.A91A GPM6A_uc011ckj.1_Silent_p.A84A|GPM6A_uc003iug.2_Silent_p.A91A|GPM6A_uc003iuh.2_Silent_p.A80A NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 91 Helical; (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) ACACAAAGAACGCAGCTGCGA 0.408 NEIL3 55247 broad.mit.edu 37 4 178262744 178262744 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:178262744A>T uc003iut.2 + 6 934 c.817A>T c.(817-819)ACA>TCA p.T273S NEIL3_uc010irs.2_Intron NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 273 FPG-type. base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) TAACAGAATGACATATTTCTG 0.388 BER_DNA_glycosylases PDLIM3 27295 broad.mit.edu 37 4 186444541 186444541 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:186444541T>C uc003ixw.3 - 3 429 c.305A>G c.(304-306)AAA>AGA p.K102R PDLIM3_uc003ixx.3_Missense_Mutation_p.K102R|PDLIM3_uc010isi.2_RNA|PDLIM3_uc003ixy.2_Missense_Mutation_p.K102R|PDLIM3_uc003ixz.2_Missense_Mutation_p.K102R NM_014476 NP_055291 Q53GG5 PDLI3_HUMAN PDZ and LIM domain protein 3 isoform a 102 sarcomere zinc ion binding ovary(2) 2 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) TAAGTTGATTTTGAAAGGATG 0.373 SORBS2 8470 broad.mit.edu 37 4 186544768 186544768 + Silent SNP G G A rs140964722 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:186544768G>A uc003iyl.2 - 13 2661 c.1803C>T c.(1801-1803)GAC>GAT p.D601D SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.D701D|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.D505D|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.D715D|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 601 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) ACACAACCCCGTCCTGGTCGC 0.552 TUBB4Q 56604 broad.mit.edu 37 4 190905501 190905501 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:190905501G>A uc011clg.1 - 3 186 c.183C>T c.(181-183)CGC>CGT p.R61R NM_020040 NP_064424 Q99867 TBB4Q_HUMAN tubulin, beta polypeptide 4, member Q 62 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155) CGAGCACAGCGCGGGACACGT 0.701 SLC6A18 348932 broad.mit.edu 37 5 1242892 1242892 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:1242892G>A uc003jby.1 + 8 1168 c.1045G>A c.(1045-1047)GTC>ATC p.V349I NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 349 Extracellular (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTACCCAGCCGTCCTCATGCA 0.597 KIAA0947 23379 broad.mit.edu 37 5 5461196 5461196 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:5461196C>T uc003jdm.3 + 13 1971 c.1749C>T c.(1747-1749)GGC>GGT p.G583G NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 583 ovary(1)|central_nervous_system(1) 2 CAGTTTCTGGCCATTTTCACA 0.398 SEMA5A 9037 broad.mit.edu 37 5 9136666 9136666 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:9136666C>G uc003jek.2 - 13 2261 c.1549G>C c.(1549-1551)GAG>CAG p.E517Q NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 517 Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 AGGCTCTCCTCCAGGCTTGTG 0.552 DNAH5 1767 broad.mit.edu 37 5 13781014 13781014 + Missense_Mutation SNP C C T rs147443285 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:13781014C>T uc003jfd.2 - 53 8917 c.8875G>A c.(8875-8877)GGA>AGA p.G2959R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2959 AAA 4 (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) TTTCCTGATCCGCCCACCCCG 0.458 Kartagener_syndrome FBXL7 23194 broad.mit.edu 37 5 15928421 15928421 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:15928421G>A uc003jfn.1 + 3 1031 c.550G>A c.(550-552)GTG>ATG p.V184M NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 184 LRR 1. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CACCCCCAACGTGTGTCTCAT 0.647 RNASEN 29102 broad.mit.edu 37 5 31401627 31401627 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:31401627C>T uc003jhg.2 - 35 4396 c.4037G>A c.(4036-4038)CGG>CAG p.R1346Q RNASEN_uc003jhh.2_Missense_Mutation_p.R1309Q NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 1346 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 TCTGTACTTCCGTTCGATGAA 0.368 PDZD2 23037 broad.mit.edu 37 5 32058054 32058054 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:32058054C>T uc003jhl.2 + 12 2433 c.2045C>T c.(2044-2046)TCG>TTG p.S682L PDZD2_uc003jhm.2_Missense_Mutation_p.S682L|PDZD2_uc011cnx.1_Missense_Mutation_p.S508L NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 682 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 ACACCCTGCTCGACACCCACA 0.547 OREG0016543 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ADAMTS12 81792 broad.mit.edu 37 5 33614441 33614441 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:33614441T>C uc003jia.1 - 16 2592 c.2429A>G c.(2428-2430)TAC>TGC p.Y810C ADAMTS12_uc010iuq.1_Missense_Mutation_p.Y725C NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 810 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CTGGATTGTGTACTCATACTT 0.478 HNSCC(64;0.19) RXFP3 51289 broad.mit.edu 37 5 33936796 33936796 + Translation_Start_Site SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:33936796G>A uc003jic.1 + 1 308 c.-49G>A c.(-51--47)CCGTG>CCATG NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GGGGTAAACCGTGTTATCTTA 0.557 NIPBL 25836 broad.mit.edu 37 5 36962233 36962233 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:36962233T>C uc003jkl.3 + 6 966 c.467T>C c.(466-468)GTG>GCG p.V156A NIPBL_uc003jkk.3_Missense_Mutation_p.V156A|NIPBL_uc003jkm.1_Missense_Mutation_p.V35A NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 156 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) AGCCGGTTTGTGCCACCACAG 0.428 LIFR 3977 broad.mit.edu 37 5 38482286 38482286 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:38482286G>T uc010ive.1 - 20 3037 c.2705C>A c.(2704-2706)CCT>CAT p.P902H LIFR_uc003jli.2_Missense_Mutation_p.P902H NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 902 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) TGGGGTACAAGGATTCATTTC 0.363 T PLAG1 salivary adenoma OSMR 9180 broad.mit.edu 37 5 38876360 38876360 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:38876360C>T uc003jln.1 + 3 498 c.131C>T c.(130-132)ACG>ATG p.T44M OSMR_uc003jlm.1_Missense_Mutation_p.T44M NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 44 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) ACCAATTCTACGCGTCAGAGT 0.368 FYB 2533 broad.mit.edu 37 5 39202444 39202444 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:39202444C>T uc003jls.2 - 1 686 c.619G>A c.(619-621)GAG>AAG p.E207K FYB_uc003jlt.2_Missense_Mutation_p.E207K|FYB_uc003jlu.2_Missense_Mutation_p.E207K|FYB_uc011cpl.1_Missense_Mutation_p.E217K NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 207 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) TGGGAGTTCTCGGTACTTAGG 0.527 FGF10 2255 broad.mit.edu 37 5 44388464 44388464 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:44388464C>T uc003jog.1 - 1 321 c.321G>A c.(319-321)CCG>CCA p.P107P NM_004465 NP_004456 O15520 FGF10_HUMAN fibroblast growth factor 10 precursor 107 actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding lung(3) 3 Lung NSC(6;1.12e-06) ACTTACTGTACGGGCAGTTCT 0.488 HCN1 348980 broad.mit.edu 37 5 45262443 45262443 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:45262443C>T uc003jok.2 - 8 2278 c.2253G>A c.(2251-2253)CCG>CCA p.P751P NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 751 Gln-rich.|Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 GCTGCGGGGACGgctgctgtg 0.428 HCN1 348980 broad.mit.edu 37 5 45462087 45462087 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:45462087A>C uc003jok.2 - 3 897 c.872T>G c.(871-873)CTC>CGC p.L291R NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 291 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TGCACTGGCGAGATCATATGT 0.383 GZMK 3003 broad.mit.edu 37 5 54320634 54320634 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:54320634C>T uc003jpl.1 + 2 255 c.211C>T c.(211-213)CGG>TGG p.R71W NM_002104 NP_002095 P49863 GRAK_HUMAN granzyme K precursor 71 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) CTGCCAATATCGGTGAGTCCT 0.458 TRIM23 373 broad.mit.edu 37 5 64905171 64905171 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:64905171G>A uc003jty.2 - 6 1029 c.943C>T c.(943-945)CGT>TGT p.R315C TRIM23_uc003jtw.2_Missense_Mutation_p.R315C|TRIM23_uc003jtx.2_Missense_Mutation_p.R315C NM_001656 NP_001647 P36406 TRI23_HUMAN ADP-ribosylation factor domain protein 1 isoform 315 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) AATTTTTCACGAACATGAGCA 0.413 MAST4 375449 broad.mit.edu 37 5 66462647 66462647 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:66462647G>A uc003jut.1 + 28 7141 c.7073G>A c.(7072-7074)CGG>CAG p.R2358Q MAST4_uc003juw.2_Missense_Mutation_p.R2286Q|MAST4_uc003jux.2_Missense_Mutation_p.R111Q NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 2550 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) GCCAGCCACCGGGACAGGGCT 0.647 BDP1 55814 broad.mit.edu 37 5 70798603 70798603 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:70798603C>T uc003kbp.1 + 15 2489 c.2226C>T c.(2224-2226)TCC>TCT p.S742S BDP1_uc003kbn.1_Silent_p.S742S|BDP1_uc003kbo.2_Silent_p.S742S NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 742 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) AAAATGAATCCTGTGCTGATA 0.368 CARTPT 9607 broad.mit.edu 37 5 71015134 71015134 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:71015134G>A uc003kbv.1 + 1 141 c.14G>A c.(13-15)CGC>CAC p.R5H NM_004291 NP_004282 Q16568 CART_HUMAN cocaine- and amphetamine-regulated transcript 5 activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission extracellular space ovary(1) 1 Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;8.4e-56) Amphetamine(DB00182) GAGAGCTCCCGCGTGAGGCTG 0.672 SV2C 22987 broad.mit.edu 37 5 75428079 75428079 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:75428079G>T uc003kei.1 + 2 638 c.504G>T c.(502-504)GAG>GAT p.E168D NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 168 Helical; (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) ACGGTGTAGAGGTGTTTGTCG 0.527 PDE8B 8622 broad.mit.edu 37 5 76707503 76707503 + Silent SNP C C T rs148282450 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:76707503C>T uc003kfa.2 + 15 1578 c.1533C>T c.(1531-1533)GAC>GAT p.D511D PDE8B_uc003kfb.2_Silent_p.D491D|PDE8B_uc003kfc.2_Silent_p.D456D|PDE8B_uc003kfd.2_Silent_p.D464D|PDE8B_uc003kfe.2_Silent_p.D414D NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 511 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TATTCCAGGACGGCTTGAGAA 0.358 THBS4 7060 broad.mit.edu 37 5 79368169 79368169 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:79368169G>T uc003kgh.2 + 15 2112 c.1789G>T c.(1789-1791)GGT>TGT p.G597C uc003kgi.3_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 597 TSP type-3 5. 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) GGATGGTGATGGTGTGGGGGA 0.473 SERINC5 256987 broad.mit.edu 37 5 79446741 79446741 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:79446741G>A uc003kgj.2 - 9 1146 c.1017C>T c.(1015-1017)GAC>GAT p.D339D SERINC5_uc003kgk.2_Silent_p.D337D|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Silent_p.D339D|SERINC5_uc011ctj.1_Silent_p.D339D NM_178276 NP_840060 Q86VE9 SERC5_HUMAN developmentally regulated protein TPO1 339 Extracellular (Potential). phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) CCTGCAGAGCGTCAGAACTCG 0.453 SERINC5 256987 broad.mit.edu 37 5 79498851 79498851 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:79498851C>T uc003kgj.2 - 2 178 c.49G>A c.(49-51)GCA>ACA p.A17T SERINC5_uc003kgk.2_Missense_Mutation_p.A17T|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.A17T|SERINC5_uc011ctj.1_Missense_Mutation_p.A17T NM_178276 NP_840060 Q86VE9 SERC5_HUMAN developmentally regulated protein TPO1 17 Extracellular (Potential).|Cys-rich. phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity endoplasmic reticulum membrane|integral to membrane ovary(1) 1 Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34) GAGCAGCCTGCAGACCCACAG 0.483 MSH3 4437 broad.mit.edu 37 5 79966006 79966006 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:79966006C>T uc003kgz.2 + 4 923 c.670C>T c.(670-672)CGG>TGG p.R224W NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 224 Interaction with EXO1. 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) AGCTAACAAACGGTCCAAAAG 0.378 MMR VCAN 1462 broad.mit.edu 37 5 82836308 82836308 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:82836308A>G uc003kii.3 + 8 7842 c.7486A>G c.(7486-7488)AAC>GAC p.N2496D VCAN_uc003kij.3_Missense_Mutation_p.N1509D|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.N1160D NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2496 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) TTCAGAGCAGAACAAAAGCTC 0.483 GPR98 84059 broad.mit.edu 37 5 90086922 90086922 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:90086922A>G uc003kju.2 + 70 14372 c.14276A>G c.(14275-14277)GAC>GGC p.D4759G GPR98_uc003kjt.2_Missense_Mutation_p.D2465G|GPR98_uc003kjw.2_Missense_Mutation_p.D420G NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4759 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) GCAAATGATGACCCACATGGA 0.438 NR2F1 7025 broad.mit.edu 37 5 92923984 92923984 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:92923984G>A uc003kkj.2 + 2 2512 c.825G>A c.(823-825)CCG>CCA p.P275P NM_005654 NP_005645 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 275 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding urinary_tract(1)|ovary(1)|lung(1) 3 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) ACGTGGCGCCGTTGCTGGCCG 0.662 ELL2 22936 broad.mit.edu 37 5 95233979 95233979 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:95233979G>A uc003klr.3 - 8 1840 c.1490C>T c.(1489-1491)GCC>GTC p.A497V NM_012081 NP_036213 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 497 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex central_nervous_system(1) 1 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) ATTTAGCTTGGCAATTTCCTC 0.348 ERAP1 51752 broad.mit.edu 37 5 96116880 96116880 + Nonsense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:96116880C>A uc003kmm.2 - 17 2817 c.2470G>T c.(2470-2472)GGA>TGA p.G824* ERAP1_uc003kml.2_Nonsense_Mutation_p.G824*|ERAP1_uc010jbm.1_Nonsense_Mutation_p.G636*|ERAP1_uc003kmn.2_Nonsense_Mutation_p.G824* NM_001040458 NP_001035548 Q9NZ08 ERAP1_HUMAN type 1 tumor necrosis factor receptor shedding 824 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) ATTTTATCTCCCTTAAAGCTT 0.368 LNPEP 4012 broad.mit.edu 37 5 96358076 96358076 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:96358076C>T uc003kmv.1 + 14 2963 c.2449C>T c.(2449-2451)CGA>TGA p.R817* LNPEP_uc003kmw.1_Nonsense_Mutation_p.R803* NM_005575 NP_005566 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase isoform 1 817 Extracellular (Potential). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) TCCATCTATGCGAGAGCTTCG 0.438 TSSK1B 83942 broad.mit.edu 37 5 112770134 112770134 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:112770134G>A uc003kqm.2 - 1 595 c.403C>T c.(403-405)CGG>TGG p.R135W MCC_uc003kql.3_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1 135 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) TTGAGGTCCCGGTGGACGACG 0.562 KCNN2 3781 broad.mit.edu 37 5 113698896 113698896 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:113698896G>A uc003kqo.2 + 1 881 c.424G>A c.(424-426)GGC>AGC p.G142S NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 142 Helical; Name=Segment S1; (Potential). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) GCTCATCTTCGGCATGTTCGG 0.607 FEM1C 56929 broad.mit.edu 37 5 114878754 114878754 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:114878754T>C uc003krb.1 - 2 999 c.437A>G c.(436-438)AAC>AGC p.N146S NM_020177 NP_064562 Q96JP0 FEM1C_HUMAN feminization 1 homolog a 146 cytoplasm breast(2)|ovary(1) 3 all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05) CCCATGTCGGTTTGACACTTC 0.393 AQPEP 206338 broad.mit.edu 37 5 115336319 115336319 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:115336319C>T uc003kro.2 + 9 1775 c.1611C>T c.(1609-1611)AAC>AAT p.N537N AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 537 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 CCTACTCAAACGCTGAGCAAG 0.348 PHAX 51808 broad.mit.edu 37 5 125939415 125939415 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:125939415C>T uc003kua.1 + 2 272 c.250C>T c.(250-252)CGA>TGA p.R84* NM_032177 NP_115553 Q9H814 PHAX_HUMAN RNA U, small nuclear RNA export adaptor 84 Necessary for interaction with CBP80 (By similarity).|Nuclear localization signal (By similarity). ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding 0 GAAACGCAAACGACAGAAATG 0.418 FBN2 2201 broad.mit.edu 37 5 127624846 127624846 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:127624846G>A uc003kuu.2 - 52 7049 c.6610C>T c.(6610-6612)CTT>TTT p.L2204F NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2204 EGF-like 36; 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) GTGTAGTCAAGGTTGTAGCCC 0.423 SLC22A5 6584 broad.mit.edu 37 5 131721153 131721153 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:131721153G>A uc003kww.3 + 4 1050 c.786G>A c.(784-786)GCG>GCA p.A262A SLC22A5_uc003kwx.3_Silent_p.A286A|SLC22A5_uc010jdr.1_5'UTR NM_003060 NP_003051 O76082 S22A5_HUMAN solute carrier family 22 member 5 262 Helical; Name=6; (Potential). positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity 0 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) TGCTGGTGGCGCTGACGATGC 0.537 OREG0016766 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) AFF4 27125 broad.mit.edu 37 5 132223801 132223801 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:132223801A>G uc003kyd.2 - 15 3192 c.2784T>C c.(2782-2784)AAT>AAC p.N928N AFF4_uc011cxk.1_Silent_p.N606N NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 928 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) ATGCATCTGCATTGTGCTTTA 0.274 SEC24A 10802 broad.mit.edu 37 5 134022491 134022491 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:134022491T>C uc003kzs.2 + 10 1791 c.1503T>C c.(1501-1503)CCT>CCC p.P501P SEC24A_uc011cxu.1_Silent_p.P265P NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 501 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 zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TACGACCACCTCAGCCTCCAG 0.348 H2AFY 9555 broad.mit.edu 37 5 134724631 134724631 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:134724631G>A uc003lam.1 - 2 363 c.153C>T c.(151-153)GCC>GCT p.A51A H2AFY_uc003lao.1_Silent_p.A51A|H2AFY_uc003lan.1_Silent_p.A51A|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Silent_p.A51A|H2AFY_uc003las.1_Silent_p.A51A|H2AFY_uc003lat.1_Silent_p.A51A NM_138610 NP_613258 O75367 H2AY_HUMAN H2A histone family, member Y isoform 3 51 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ATTCCAGGACGGCGGCCATGT 0.532 CTNNA1 1495 broad.mit.edu 37 5 138269587 138269587 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:138269587C>T uc003ldh.2 + 18 2625 c.2530C>T c.(2530-2532)CAA>TAA p.Q844* CTNNA1_uc011cyx.1_Nonsense_Mutation_p.Q741*|CTNNA1_uc011cyy.1_Nonsense_Mutation_p.Q721*|CTNNA1_uc003ldi.2_Nonsense_Mutation_p.Q542*|CTNNA1_uc003ldj.2_3'UTR|CTNNA1_uc003ldl.2_Nonsense_Mutation_p.Q474* NM_001903 NP_001894 P35221 CTNA1_HUMAN catenin, alpha 1 844 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) TACCAAATACCAAAAGTCACA 0.507 PSD2 84249 broad.mit.edu 37 5 139192937 139192937 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:139192937G>A uc003leu.1 + 3 620 c.415G>A c.(415-417)GCC>ACC p.A139T NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 139 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) TGGCTTCAGCGCCACGTTTGA 0.617 CD14 929 broad.mit.edu 37 5 140011861 140011861 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140011861C>T uc003lgi.1 - 2 1062 c.708G>A c.(706-708)ACG>ACA p.T236T CD14_uc003lgj.1_Silent_p.T236T NM_000591 NP_000582 P08571 CD14_HUMAN CD14 antigen precursor 236 LRR 7. apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway anchored to membrane|plasma membrane lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCTGTGGGCGTCTCCATTC 0.652 PCDHA4 56144 broad.mit.edu 37 5 140188395 140188395 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140188395C>T uc003lhi.2 + 1 1724 c.1623C>T c.(1621-1623)GGC>GGT p.G541G PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhh.1_Silent_p.G541G|PCDHA4_uc011daa.1_Silent_p.G541G NM_018907 NP_061730 Q9UN74 PCDA4_HUMAN protocadherin alpha 4 isoform 1 precursor 541 Cadherin 5.|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) GCGATGCCGGCGTGCCACCTC 0.657 PCDHA5 56143 broad.mit.edu 37 5 140203028 140203028 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140203028C>T uc003lhl.2 + 1 1668 c.1668C>T c.(1666-1668)GAC>GAT p.D556D 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_Silent_p.D556D|PCDHA5_uc003lhj.1_Silent_p.D556D NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 556 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGCTGGACGAGAACGACA 0.706 PCDHA8 56140 broad.mit.edu 37 5 140222193 140222193 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140222193C>T uc003lhs.2 + 1 1287 c.1287C>T c.(1285-1287)GAC>GAT p.D429D 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_Silent_p.D429D NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 429 Cadherin 4.|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) CCGCGCGGGACGGGGGCTCGC 0.637 PCDHA9 9752 broad.mit.edu 37 5 140229559 140229559 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140229559G>A uc003lhu.2 + 1 2203 c.1479G>A c.(1477-1479)TCG>TCA p.S493S 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_Silent_p.S493S NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 493 Cadherin 5.|Extracellular (Potential). 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) TGTCCTACTCGCTGGTGGAGC 0.667 PCDHAC1 56135 broad.mit.edu 37 5 140307102 140307102 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140307102G>A uc003lih.2 + 1 801 c.625G>A c.(625-627)GGG>AGG p.G209R 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.G209R NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 209 Cadherin 2.|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) TCGGGACGGCGGGCTACCTGC 0.602 PCDHAC1 56135 broad.mit.edu 37 5 140308685 140308685 + Nonsense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140308685C>A uc003lih.2 + 1 2384 c.2208C>A c.(2206-2208)TGC>TGA p.C736* 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_Nonsense_Mutation_p.C736* NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 736 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) CAAATCCTTGCATGACATCAG 0.478 PCDHB10 56126 broad.mit.edu 37 5 140573799 140573799 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140573799G>A uc003lix.2 + 1 1848 c.1674G>A c.(1672-1674)TCG>TCA p.S558S NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 558 Cadherin 5.|Extracellular (Potential). 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) ACGACAACTCGCCCTTCGTGC 0.721 PCDHB15 56121 broad.mit.edu 37 5 140625739 140625739 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140625739C>T uc003lje.2 + 1 593 c.593C>T c.(592-594)ACA>ATA p.T198I NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 198 Extracellular (Potential).|Cadherin 2. 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) GTGCTGGACACAGAACTGGAT 0.527 PCDHGA6 56109 broad.mit.edu 37 5 140753888 140753888 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140753888C>T uc003ljy.1 + 1 238 c.238C>T c.(238-240)CGA>TGA p.R80* 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_uc011dau.1_Nonsense_Mutation_p.R80* NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 80 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGAATCCGCGAAACGGCAG 0.577 PCDHGA9 56107 broad.mit.edu 37 5 140782735 140782735 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140782735G>A uc003lkh.1 + 1 216 c.216G>A c.(214-216)ACG>ACA p.T72T 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_uc011dax.1_Silent_p.T72T NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 72 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) GAGGTAGGACGCAGCTTTTCT 0.622 PCDHGB6 56100 broad.mit.edu 37 5 140789448 140789448 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140789448C>T uc003lkj.1 + 1 1679 c.1679C>T c.(1678-1680)CCG>CTG p.P560L 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.P560L NM_018926 NP_061749 Q9Y5F9 PCDGI_HUMAN protocadherin gamma subfamily B, 6 isoform 1 560 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) GACAACGCACCGCGGGTGCTG 0.662 PCDHGC3 5098 broad.mit.edu 37 5 140856586 140856586 + Silent SNP C C T rs148675327 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140856586C>T uc003lkv.1 + 1 1018 c.903C>T c.(901-903)ACC>ACT p.T301T 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_uc003lku.1_Silent_p.T301T|PCDHGC3_uc003lkw.1_Intron NM_002588 NP_002579 Q9UN70 PCDGK_HUMAN protocadherin gamma subfamily C, 3 isoform 1 301 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTTGTAACCGGGATGCTGA 0.552 PCDH12 51294 broad.mit.edu 37 5 141335577 141335577 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:141335577G>A uc003llx.2 - 1 3051 c.1840C>T c.(1840-1842)CGG>TGG p.R614W NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 614 Cadherin 6.|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) AGGAATGGCCGGGAGCTGTGA 0.592 SH3RF2 153769 broad.mit.edu 37 5 145439648 145439648 + Missense_Mutation SNP G G A rs112543445 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:145439648G>A uc003lnt.2 + 9 2013 c.1775G>A c.(1774-1776)CGG>CAG p.R592Q SH3RF2_uc011dbl.1_Nonsense_Mutation_p.W592*|SH3RF2_uc011dbm.1_Nonsense_Mutation_p.W77*|SH3RF2_uc003lnu.2_Nonsense_Mutation_p.W83*|SH3RF2_uc011dbn.1_Nonsense_Mutation_p.W83*|SH3RF2_uc011dbo.1_Nonsense_Mutation_p.W49* NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 592 ligase activity|protein phosphatase 1 binding|zinc ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGTGAGGCCTGGATCCACTCC 0.637 TCERG1 10915 broad.mit.edu 37 5 145838593 145838593 + Silent SNP G G A rs140816235 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:145838593G>A uc003lob.2 + 4 625 c.585G>A c.(583-585)GCG>GCA p.A195A TCERG1_uc003loc.2_Silent_p.A195A|TCERG1_uc011dbt.1_Silent_p.A195A NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 195 Potential.|Ala/Gln-rich. 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) aggcccaggcgcaggctcagg 0.104 TCERG1 10915 broad.mit.edu 37 5 145838596 145838596 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:145838596G>A uc003lob.2 + 4 628 c.588G>A c.(586-588)CAG>CAA p.Q196Q TCERG1_uc003loc.2_Silent_p.Q196Q|TCERG1_uc011dbt.1_Silent_p.Q196Q NM_006706 NP_006697 O14776 TCRG1_HUMAN transcription elongation regulator 1 isoform 1 196 Potential.|Ala/Gln-rich. 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) cccaggcgcaggctcaggccc 0.095 SLC36A3 285641 broad.mit.edu 37 5 150660642 150660642 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:150660642G>A uc003ltw.2 - 9 1496 c.1077C>T c.(1075-1077)TCC>TCT p.S359S GM2A_uc011dcs.1_Intron|SLC36A3_uc003ltv.2_Silent_p.S344S|SLC36A3_uc003ltx.2_Silent_p.S400S NM_181774 NP_861439 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 isoform 2 359 Cytoplasmic (Potential). integral to membrane ovary(2)|skin(1) 3 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGACACTTGGGAGATGGCAA 0.507 FAT2 2196 broad.mit.edu 37 5 150891874 150891874 + Silent SNP G G A rs138511375 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:150891874G>A uc003lue.3 - 20 11770 c.11757C>T c.(11755-11757)AAC>AAT p.N3919N GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Silent_p.N526N NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3919 Extracellular (Potential).|Laminin G-like. 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) GAGCCTCTTCGTTGACCACGA 0.602 GEMIN5 25929 broad.mit.edu 37 5 154287348 154287348 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:154287348C>T uc003lvx.3 - 16 2281 c.2198G>A c.(2197-2199)CGG>CAG p.R733Q GEMIN5_uc011ddk.1_Missense_Mutation_p.R732Q NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 733 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTGAGAGAGCCGTTTTTTCTC 0.378 CCNJL 79616 broad.mit.edu 37 5 159738888 159738888 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:159738888C>T uc003lyb.1 - 2 295 c.43G>A c.(43-45)GTC>ATC p.V15I CCNJL_uc011dee.1_Missense_Mutation_p.V15I|CCNJL_uc003lyc.1_Intron|CCNJL_uc011def.1_Missense_Mutation_p.V15I NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN cyclin J-like 15 Cyclin N-terminal. nucleus 0 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) GTGCAGTGGACGTCCGAGGCG 0.647 GABRB2 2561 broad.mit.edu 37 5 160763740 160763740 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:160763740C>T uc003lys.1 - 7 796 c.578G>A c.(577-579)CGT>CAT p.R193H GABRB2_uc011deh.1_Missense_Mutation_p.R32H|GABRB2_uc003lyr.1_Missense_Mutation_p.R193H|GABRB2_uc003lyt.1_Missense_Mutation_p.R193H|GABRB2_uc010jiu.1_Missense_Mutation_p.R130H NM_021911 NP_068711 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 193 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity 0 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATCATCGCCACGCCAGTAAAA 0.279 ODZ2 57451 broad.mit.edu 37 5 167673928 167673928 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:167673928C>T uc010jjd.2 + 27 5957 c.5957C>T c.(5956-5958)TCG>TTG p.S1986L ODZ2_uc003lzr.3_Missense_Mutation_p.S1756L|ODZ2_uc003lzt.3_Missense_Mutation_p.S1359L|ODZ2_uc010jje.2_Missense_Mutation_p.S1250L 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) AGCAATGCTTCGGTCATCTTT 0.537 DOCK2 1794 broad.mit.edu 37 5 169116325 169116325 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:169116325G>C uc003maf.2 + 9 911 c.831G>C c.(829-831)AAG>AAC p.K277N DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 277 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) ACAATCTGAAGGTGGTCTTCA 0.542 FOXI1 2299 broad.mit.edu 37 5 169533117 169533117 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:169533117C>T uc003mai.3 + 1 201 c.156C>T c.(154-156)GGC>GGT p.G52G FOXI1_uc003maj.3_Silent_p.G52G NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 52 Pro-rich. epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCGAGGGGGGCGGCGAGTATG 0.687 Pendred_syndrome FGF18 8817 broad.mit.edu 37 5 170883662 170883662 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:170883662G>A uc003mbk.2 + 5 1014 c.477G>A c.(475-477)CCG>CCA p.P159P NM_003862 NP_003853 O76093 FGF18_HUMAN fibroblast growth factor 18 precursor 159 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGGGGCGGCCGCGGAAGGGCC 0.592 FBXW11 23291 broad.mit.edu 37 5 171337640 171337640 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:171337640C>T uc003mbm.1 - 3 680 c.309G>A c.(307-309)CAG>CAA p.Q103Q FBXW11_uc011dey.1_Silent_p.Q71Q|FBXW11_uc003mbl.1_Silent_p.Q90Q|FBXW11_uc003mbn.1_Silent_p.Q69Q NM_012300 NP_036432 Q9UKB1 FBW1B_HUMAN F-box and WD repeat domain containing 11 isoform 103 Homodimerization domain D (By similarity). 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 p.N260_I262(1) 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) TATGTCCATGCTGATAATGAC 0.373 BOD1 91272 broad.mit.edu 37 5 173036293 173036293 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:173036293A>G uc003mcq.2 - 3 734 c.507T>C c.(505-507)CCT>CCC p.P169P BOD1_uc003mcr.2_Intron NM_138369 NP_612378 Q96IK1 BOD1_HUMAN biorientation of chromosomes in cell division 1 169 cell division|mitosis condensed chromosome kinetochore|microtubule organizing center ovary(2) 2 CGGGCTCTGGAGGGGGTGCTG 0.527 CDHR2 54825 broad.mit.edu 37 5 175998265 175998265 + Missense_Mutation SNP G G A rs142176546 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:175998265G>A uc003mem.1 + 6 433 c.367G>A c.(367-369)GTT>ATT p.V123I CDHR2_uc003men.1_Missense_Mutation_p.V123I NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 123 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 CAACGCACCCGTTTTCCAGAA 0.522 CDHR2 54825 broad.mit.edu 37 5 176004426 176004426 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:176004426G>A uc003mem.1 + 13 1287 c.1221G>A c.(1219-1221)TCG>TCA p.S407S CDHR2_uc003men.1_Silent_p.S407S NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 407 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 ovary(2) 2 TCCTGTTGTCGCTGGGGGGCC 0.657 CDHR2 54825 broad.mit.edu 37 5 176011888 176011888 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:176011888C>T uc003mem.1 + 19 2672 c.2606C>T c.(2605-2607)GCG>GTG p.A869V CDHR2_uc003men.1_Missense_Mutation_p.A869V NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 869 Extracellular (Potential).|Cadherin 8. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 TTCTCAGTGGCGGCCAACGGC 0.607 CDHR2 54825 broad.mit.edu 37 5 176016106 176016106 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:176016106C>T uc003mem.1 + 22 2997 c.2931C>T c.(2929-2931)GAC>GAT p.D977D CDHR2_uc003men.1_Silent_p.D977D NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 977 Extracellular (Potential).|Cadherin 9. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 TCTCTAAGGACGGGGCCACCA 0.577 B4GALT7 11285 broad.mit.edu 37 5 177031390 177031390 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:177031390C>T uc003mhy.2 + 2 301 c.261C>T c.(259-261)GAC>GAT p.D87D B4GALT7_uc003mhz.2_Translation_Start_Site NM_007255 NP_009186 Q9UBV7 B4GT7_HUMAN xylosylprotein beta 1,4-galactosyltransferase 7 87 Lumenal (Potential). fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process Golgi cisterna membrane|integral to membrane metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity pancreas(1) 1 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) 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) GGGAAGAAGACGCATCCTGGG 0.711 FLT4 2324 broad.mit.edu 37 5 180057684 180057684 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:180057684G>A uc003mma.3 - 3 350 c.271C>T c.(271-273)CCC>TCC p.P91S FLT4_uc003mlz.3_Missense_Mutation_p.P91S|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.1_Missense_Mutation_p.P91S|FLT4_uc011dgz.1_Missense_Mutation_p.P91S|FLT4_uc011dha.1_Missense_Mutation_p.P91S NM_002020 NP_002011 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 isoform 2 91 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) TTGCAGTAGGGCCTGGCGTCT 0.632 Congenital_Hereditary_Lymphedema IRF4 3662 broad.mit.edu 37 6 394848 394848 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:394848C>T uc003msz.3 + 3 357 c.244C>T c.(244-246)CGA>TGA p.R82* IRF4_uc010jne.1_Nonsense_Mutation_p.R82*|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Nonsense_Mutation_p.R82*|IRF4_uc003mtc.1_5'Flank NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 82 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) AGGAAAGTTCCGAGAAGGCAT 0.463 T IGH@ MM MYLK4 340156 broad.mit.edu 37 6 2693062 2693062 + Missense_Mutation SNP G G A rs114356072 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:2693062G>A uc003mty.3 - 3 488 c.191C>T c.(190-192)ACG>ATG p.T64M NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 64 ATP binding|protein serine/threonine kinase activity breast(3)|ovary(1) 4 Ovarian(93;0.0412) all_hematologic(90;0.0897) CATCCTTTCCGTCAGGTCGGC 0.378 RREB1 6239 broad.mit.edu 37 6 7230666 7230666 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:7230666C>T uc003mxc.2 + 10 2724 c.2334C>T c.(2332-2334)CGC>CGT p.R778R RREB1_uc003mxb.2_Silent_p.R778R|RREB1_uc010jnx.2_Silent_p.R778R NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 778 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) ACTGCGGCCGCGGCCTGGGCG 0.697 GFOD1 54438 broad.mit.edu 37 6 13365828 13365828 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:13365828G>A uc003nat.1 - 2 985 c.320C>T c.(319-321)GCC>GTC p.A107V GFOD1_uc003nas.1_Missense_Mutation_p.A4V NM_018988 NP_061861 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain 107 extracellular region binding|oxidoreductase activity ovary(2) 2 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) GTAGTGGGCGGCCGAGGTCAT 0.652 MBOAT1 154141 broad.mit.edu 37 6 20124681 20124681 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:20124681T>C uc003ncx.1 - 8 1070 c.865A>G c.(865-867)ATG>GTG p.M289V MBOAT1_uc011dji.1_Missense_Mutation_p.M140V NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain 289 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) GAGGCTTGCATGACAACATAT 0.443 CDKAL1 54901 broad.mit.edu 37 6 21201396 21201396 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:21201396A>G uc003ndc.1 + 15 1613 c.1439A>G c.(1438-1440)TAT>TGT p.Y480C CDKAL1_uc003ndd.1_Missense_Mutation_p.Y480C|CDKAL1_uc003nde.1_Missense_Mutation_p.Y389C|CDKAL1_uc003ndf.1_Intron|CDKAL1_uc003ndg.2_RNA NM_017774 NP_060244 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 480 TRAM. RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity ovary(2) 2 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) GTGGACATCTATGAATCAGGC 0.418 KIAA0319 9856 broad.mit.edu 37 6 24547486 24547486 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:24547486G>A uc011djo.1 - 21 3363 c.3126C>T c.(3124-3126)AGC>AGT p.S1042S KIAA0319_uc011djp.1_Silent_p.S997S|KIAA0319_uc003neh.1_Silent_p.S1042S|KIAA0319_uc011djq.1_Silent_p.S1033S|KIAA0319_uc011djr.1_Silent_p.S981S|KIAA0319_uc010jpt.1_Silent_p.S453S NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 1042 Cytoplasmic (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 TCTTTTCTCGGCTGAAGATTG 0.473 HIST1H2AE 3012 broad.mit.edu 37 6 26217419 26217419 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:26217419G>A uc003nha.1 + 1 272 c.217G>A c.(217-219)GAC>AAC p.D73N HIST1H2BG_uc003ngz.2_5'Flank NM_021052 NP_066390 P04908 H2A1B_HUMAN histone cluster 1, H2ae 73 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 all_hematologic(11;0.196) CGCGGCTCGCGACAATAAGAA 0.612 HIST1H2AE 3012 broad.mit.edu 37 6 26217530 26217530 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:26217530C>T uc003nha.1 + 1 383 c.328C>T c.(328-330)CCC>TCC p.P110S HIST1H2BG_uc003ngz.2_5'Flank NM_021052 NP_066390 P04908 H2A1B_HUMAN histone cluster 1, H2ae 110 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|skin(1) 2 all_hematologic(11;0.196) CGGTGTCCTGCCCAACATCCA 0.572 PGBD1 84547 broad.mit.edu 37 6 28268977 28268977 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:28268977G>T uc003nky.2 + 7 1716 c.1346G>T c.(1345-1347)AGC>ATC p.S449I PGBD1_uc003nkz.2_Missense_Mutation_p.S449I NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 449 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity ovary(4) 4 AAAAATGTCAGCTTGGAAGTC 0.353 GABBR1 2550 broad.mit.edu 37 6 29577006 29577006 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:29577006C>T uc003nmt.3 - 15 2195 c.1859G>A c.(1858-1860)CGT>CAT p.R620H GABBR1_uc003nmp.3_Missense_Mutation_p.R503H|GABBR1_uc003nms.3_Missense_Mutation_p.R503H|GABBR1_uc003nmu.3_Missense_Mutation_p.R558H|GABBR1_uc011dlr.1_Missense_Mutation_p.R443H|GABBR1_uc011dls.1_Intron NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 620 Cytoplasmic (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) AGAAACTTACCGGACATGTGA 0.458 TRIM31 11074 broad.mit.edu 37 6 30080571 30080571 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:30080571C>T uc003npg.1 - 2 122 c.12G>A c.(10-12)GGG>GGA p.G4G TRIM31_uc003npi.3_RNA NM_007028 NP_008959 Q9BZY9 TRI31_HUMAN tripartite motif protein 31 4 mitochondrion ligase activity|zinc ion binding lung(1) 1 TCACAAACTGCCCACTGGCCA 0.517 TRIM39 56658 broad.mit.edu 37 6 30308351 30308351 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:30308351T>C uc010jrz.2 + 8 1275 c.963T>C c.(961-963)TTT>TTC p.F321F TRIM39_uc003npz.2_Silent_p.F291F|TRIM39_uc003nqb.2_Silent_p.F291F|TRIM39_uc003nqc.2_Silent_p.F291F|TRIM39_uc010jsa.1_Silent_p.F291F NM_021253 NP_067076 Q9HCM9 TRI39_HUMAN tripartite motif-containing 39 isoform 1 321 B30.2/SPRY. apoptosis cytosol|mitochondrion identical protein binding|zinc ion binding ovary(3) 3 TCAGCAATTTTCCCCGACAGT 0.418 DHX16 8449 broad.mit.edu 37 6 30624769 30624769 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:30624769C>T uc003nqz.2 - 13 2320 c.2108G>A c.(2107-2109)CGC>CAC p.R703H DHX16_uc003nqy.2_Missense_Mutation_p.R222H|DHX16_uc011dmo.1_Missense_Mutation_p.R643H NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 703 Helicase C-terminal. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 CATGCCTGTGCGGGGGTTGTA 0.557 MICB 4277 broad.mit.edu 37 6 31473409 31473409 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:31473409G>A uc003ntn.3 + 2 202 c.86G>A c.(85-87)CGT>CAT p.R29H MICB_uc011dnm.1_5'UTR|MICB_uc003nto.3_Missense_Mutation_p.R29H NM_005931 NP_005922 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 29 Extracellular (Potential). antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding 0 CACAGTCTTCGTTACAACCTC 0.522 BAT5 7920 broad.mit.edu 37 6 31661161 31661161 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:31661161A>C uc003nvy.1 - 6 508 c.478T>G c.(478-480)TTC>GTC p.F160V BAT5_uc003nvx.1_5'UTR|BAT5_uc011dny.1_Missense_Mutation_p.F127V|BAT5_uc003nvz.1_5'UTR|BAT5_uc011dnz.1_5'UTR|BAT5_uc010jtc.1_RNA|BAT5_uc011doa.1_Silent_p.T61T NM_021160 NP_066983 O95870 ABHGA_HUMAN HLA-B associated transcript 5 160 integral to membrane hydrolase activity|protein binding 0 TCCCAGTGGAAGTCGACTGGC 0.567 MSH5 4439 broad.mit.edu 37 6 31727272 31727272 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:31727272T>C uc003nwv.1 + 17 1557 c.1478T>C c.(1477-1479)CTG>CCG p.L493P MSH5_uc003nwt.1_Missense_Mutation_p.L510P|MSH5_uc003nwu.1_Missense_Mutation_p.L493P|MSH5_uc003nww.1_Missense_Mutation_p.L493P|MSH5_uc003nwx.1_Missense_Mutation_p.L510P|MSH5_uc011dof.1_Missense_Mutation_p.L192P|MSH5_uc003nwy.1_Missense_Mutation_p.L167P|MSH5_uc003nwz.3_RNA NM_172166 NP_751898 O43196 MSH5_HUMAN mutS homolog 5 isoform c 493 chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding ovary(2)|breast(1) 3 CTGGGGGACCTGCACTGCGAG 0.527 Direct_reversal_of_damage|MMR EHMT2 10919 broad.mit.edu 37 6 31854829 31854829 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:31854829C>T uc003nxz.1 - 16 2071 c.2061G>A c.(2059-2061)ACG>ACA p.T687T EHMT2_uc003nxv.1_5'Flank|EHMT2_uc003nxw.1_5'Flank|EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Silent_p.T478T|EHMT2_uc011don.1_Silent_p.T710T|EHMT2_uc003nya.1_Silent_p.T653T NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 687 ANK 2. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 CATGCAGGGGCGTGCGCTTGC 0.657 NOTCH4 4855 broad.mit.edu 37 6 32189085 32189085 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:32189085G>A uc003obb.2 - 4 608 c.469C>T c.(469-471)CGG>TGG p.R157W NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.R157W NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 157 Extracellular (Potential).|EGF-like 4. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 CAGAAGTCCCGAAGCTGGCAC 0.572 B3GALT4 8705 broad.mit.edu 37 6 33246150 33246150 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:33246150G>T uc003odr.2 + 1 1234 c.954G>T c.(952-954)CCG>CCT p.P318P NM_003782 NP_003773 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 318 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1)|breast(1) 2 CCCACTACCCGCTAGACCGGT 0.617 TAPBP 6892 broad.mit.edu 37 6 33272343 33272343 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:33272343A>C uc003odx.1 - 5 1112 c.941T>G c.(940-942)CTC>CGC p.L314R TAPBP_uc010jus.1_Missense_Mutation_p.L332R|TAPBP_uc003ody.2_3'UTR|TAPBP_uc003odz.2_Missense_Mutation_p.L314R|TAPBP_uc010jut.1_Missense_Mutation_p.L227R|TAPBP_uc011drc.1_Missense_Mutation_p.L314R NM_003190 NP_003181 O15533 TPSN_HUMAN tapasin isoform 1 precursor 314 Ig-like C1-type.|Lumenal (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|MHC class I peptide loading complex|microsome MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding ovary(1) 1 CACAAGGCAGAGCAATTCCGG 0.657 ITPR3 3710 broad.mit.edu 37 6 33663508 33663508 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:33663508G>A uc011drk.1 + 58 8186 c.7967G>A c.(7966-7968)CGC>CAC p.R2656H C6orf125_uc003oez.1_RNA NM_002224 NP_002215 Q14573 ITPR3_HUMAN inositol 1,4,5-triphosphate receptor, type 3 2656 Cytoplasmic (Potential). activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1) 19 CAGCGGAAACGCAGGCAACGC 0.602 GRM4 2914 broad.mit.edu 37 6 34003851 34003851 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:34003851C>T uc003oir.3 - 8 2206 c.2036G>A c.(2035-2037)CGC>CAC p.R679H GRM4_uc011dsn.1_Missense_Mutation_p.R632H|GRM4_uc010jvh.2_Missense_Mutation_p.R679H|GRM4_uc010jvi.2_Missense_Mutation_p.R371H|GRM4_uc003oio.2_Missense_Mutation_p.R371H|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.R539H|GRM4_uc003oiq.2_Missense_Mutation_p.R546H|GRM4_uc011dsm.1_Missense_Mutation_p.R510H NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 679 Cytoplasmic (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) CTCGAAGATGCGGTAGATGCG 0.627 SCUBE3 222663 broad.mit.edu 37 6 35196408 35196408 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:35196408C>T uc003okf.1 + 3 232 c.226C>T c.(226-228)CGA>TGA p.R76* SCUBE3_uc003okg.1_Nonsense_Mutation_p.R76*|SCUBE3_uc003okh.1_5'UTR NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 76 EGF-like 2; calcium-binding (Potential). protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 TGAGTGCGAGCGAGAGGATAA 0.537 TULP1 7287 broad.mit.edu 37 6 35466128 35466128 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:35466128G>A uc003okv.3 - 15 1617 c.1605C>T c.(1603-1605)TTC>TTT p.F535F TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Silent_p.F482F NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 535 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 GCTTCCCGTCGAAACTGGAGA 0.687 TULP1 7287 broad.mit.edu 37 6 35467757 35467757 + Splice_Site SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:35467757C>T uc003okv.3 - 14 1507 c.1495_splice c.e14+1 p.P499_splice TEAD3_uc003oku.3_5'Flank|TEAD3_uc010jvx.2_5'Flank|TULP1_uc003okw.3_Splice_Site_p.P446_splice NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 CAGGTACTCACGGTCATCAGC 0.592 SLC26A8 116369 broad.mit.edu 37 6 35965630 35965630 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:35965630T>C uc003olm.2 - 5 623 c.512A>G c.(511-513)CAA>CGA p.Q171R SLC26A8_uc003oln.2_Missense_Mutation_p.Q171R|SLC26A8_uc003oll.2_Missense_Mutation_p.Q171R NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 171 Extracellular (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 CATGACCAGTTGACCGTTGTT 0.463 MDGA1 266727 broad.mit.edu 37 6 37614111 37614111 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:37614111C>T uc003onu.1 - 11 3266 c.2087G>A c.(2086-2088)CGG>CAG p.R696Q MDGA1_uc003onv.1_5'UTR NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 696 Fibronectin type-III. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 CTCCACACGCCGGACCGGGAT 0.537 DNAH8 1769 broad.mit.edu 37 6 38828322 38828322 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:38828322G>A uc003ooe.1 + 41 5997 c.5397G>A c.(5395-5397)GTG>GTA p.V1799V 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 AAACTGTGGTGTCTATTACAG 0.318 DNAH8 1769 broad.mit.edu 37 6 38862578 38862578 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:38862578C>T uc003ooe.1 + 57 8634 c.8034C>T c.(8032-8034)TGC>TGT p.C2678C 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 CTGAGGAGTGCGCTTCAATCC 0.438 PGC 5225 broad.mit.edu 37 6 41710153 41710153 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:41710153C>T uc003ora.1 - 5 571 c.522G>A c.(520-522)GCG>GCA p.A174A NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 174 digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) CATCAAACTGCGCATAGACGA 0.597 PEX6 5190 broad.mit.edu 37 6 42934036 42934036 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:42934036G>A uc003otf.2 - 11 2337 c.2244C>T c.(2242-2244)ACC>ACT p.T748T PEX6_uc010jya.2_Intron NM_000287 NP_000278 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 748 ATP (Potential). protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1) 1 all cancers(41;0.00235)|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;0.0562) GGGTCTTGCCGGTGCCAGGGG 0.647 CAPN11 11131 broad.mit.edu 37 6 44148518 44148518 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:44148518C>T uc003owt.1 + 17 1818 c.1780C>T c.(1780-1782)CTG>TTG p.L594L CAPN11_uc011dvn.1_Silent_p.L248L NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN calpain 11 594 Domain IV. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1)|breast(1) 2 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCTCCAGAGGCTGCTCAACAG 0.602 TDRD6 221400 broad.mit.edu 37 6 46661330 46661330 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:46661330A>G uc003oyj.2 + 1 5465 c.5465A>G c.(5464-5466)CAT>CGT p.H1822R TDRD6_uc010jze.2_Missense_Mutation_p.H1816R NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 1822 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) TTACTACCACATGCTAATGAA 0.378 GPR116 221395 broad.mit.edu 37 6 46826552 46826552 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:46826552A>G uc003oyo.3 - 17 3377 c.3088T>C c.(3088-3090)TGT>CGT p.C1030R GPR116_uc011dwj.1_Missense_Mutation_p.C585R|GPR116_uc011dwk.1_Missense_Mutation_p.C459R|GPR116_uc003oyp.3_Missense_Mutation_p.C888R|GPR116_uc003oyq.3_Missense_Mutation_p.C1030R|GPR116_uc010jzi.1_Missense_Mutation_p.C702R NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 1030 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) ACAACTAGACAGGCTGCCAAG 0.502 GCM1 8521 broad.mit.edu 37 6 52993439 52993439 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:52993439G>A uc003pbp.2 - 6 1085 c.876C>T c.(874-876)GGC>GGT p.G292G NM_003643 NP_003634 Q9NP62 GCM1_HUMAN glial cells missing homolog a 292 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1) 1 Lung NSC(77;0.0755) CTTGTAGATCGCCATGATCAG 0.473 GFRAL 389400 broad.mit.edu 37 6 55266626 55266626 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:55266626C>T uc003pcm.1 + 9 1246 c.1160C>T c.(1159-1161)TCG>TTG p.S387L NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like precursor 387 Cytoplasmic (Potential). integral to membrane receptor activity ovary(1)|breast(1) 2 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GATCCTTCATCGATCCAAATA 0.264 BAI3 577 broad.mit.edu 37 6 69653743 69653743 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:69653743G>T uc003pev.3 + 6 1500 c.1052G>T c.(1051-1053)TGG>TTG p.W351L BAI3_uc010kak.2_Missense_Mutation_p.W351L NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 351 Extracellular (Potential).|TSP type-1 2. 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) TGGGAGGAATGGTCACCATGG 0.403 BAI3 577 broad.mit.edu 37 6 70034893 70034893 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:70034893C>T uc003pev.3 + 21 3392 c.2944C>T c.(2944-2946)CGC>TGC p.R982C BAI3_uc010kak.2_Missense_Mutation_p.R982C|BAI3_uc011dxx.1_Missense_Mutation_p.R188C|BAI3_uc003pex.1_Missense_Mutation_p.R112C NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 982 Helical; Name=4; (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) TATAAGAAAACGCTTTTTGTG 0.403 BAI3 577 broad.mit.edu 37 6 70098683 70098683 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:70098683C>T uc003pev.3 + 32 4917 c.4469C>T c.(4468-4470)ACA>ATA p.T1490I BAI3_uc010kak.2_Missense_Mutation_p.T1490I|BAI3_uc011dxx.1_Missense_Mutation_p.T696I NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1490 Cytoplasmic (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) GTCTTAGACACAGAGGCAAAG 0.458 FAM135A 57579 broad.mit.edu 37 6 71238145 71238145 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:71238145C>T uc003pfj.2 + 14 3898 c.3765C>T c.(3763-3765)CAC>CAT p.H1255H FAM135A_uc003pfi.2_Silent_p.H1059H|FAM135A_uc003pfh.2_Silent_p.H1042H|FAM135A_uc003pfl.2_Silent_p.H922H|FAM135A_uc003pfn.2_Silent_p.H461H|FAM135A_uc003pfo.1_Silent_p.H626H|FAM135A_uc010kan.1_Silent_p.H34H NM_001162529 NP_001156001 Q9P2D6 F135A_HUMAN hypothetical protein LOC57579 isoform c 1255 central_nervous_system(1) 1 TCTGTGTGCACGGTTTAGATG 0.373 KIAA1009 22832 broad.mit.edu 37 6 84930884 84930884 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:84930884T>C uc010kbp.2 - 3 160 c.63A>G c.(61-63)TCA>TCG p.S21S KIAA1009_uc003pkj.3_5'UTR|KIAA1009_uc003pkk.2_Silent_p.S21S NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 21 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) AAGAATCATCTGAAAGCTGAA 0.308 C6orf162 57150 broad.mit.edu 37 6 88046820 88046820 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:88046820G>T uc003plp.1 + 3 160 c.71G>T c.(70-72)GGG>GTG p.G24V C6orf164_uc003plr.2_RNA|C6orf162_uc003plq.1_Missense_Mutation_p.G24V NM_001042493 NP_001035958 Q96KF7 CF162_HUMAN hypothetical protein LOC57150 24 integral to membrane 0 all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05) BRCA - Breast invasive adenocarcinoma(108;0.0164) CAAAGCCCAGGGCTCAGAGGG 0.403 PNRC1 10957 broad.mit.edu 37 6 89793717 89793717 + Silent SNP G G A rs147195455 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:89793717G>A uc003pmv.2 + 2 971 c.786G>A c.(784-786)TCG>TCA p.S262S PNRC1_uc003pmu.2_Silent_p.S242S|PNRC1_uc003pmx.2_Silent_p.S77S NM_006813 NP_006804 Q12796 PNRC1_HUMAN proline-rich nuclear receptor coactivator 1 262 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) TTAAAAATTCGCATTTGAAGA 0.358 Multiple Myeloma(7;0.094) MDN1 23195 broad.mit.edu 37 6 90359786 90359786 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:90359786G>A uc003pnn.1 - 97 16279 c.16163C>T c.(16162-16164)GCT>GTT p.A5388V NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 5388 VWFA. 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) GTCATCGATAGCCAAACAAAT 0.408 POU3F2 5454 broad.mit.edu 37 6 99284015 99284015 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:99284015C>T uc003ppe.2 + 1 1436 c.1266C>T c.(1264-1266)GCC>GCT p.A422A NM_005604 NP_005595 P20265 PO3F2_HUMAN POU domain, class 3, transcription factor 2 422 positive regulation of cell proliferation identical protein binding|sequence-specific DNA binding transcription factor activity 0 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;0.0355) TGCCGGGCGCCGAGGATGTGT 0.622 GRIK2 2898 broad.mit.edu 37 6 102074490 102074490 + Silent SNP G G A rs147153195 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:102074490G>A uc003pqp.3 + 3 768 c.519G>A c.(517-519)ACG>ACA p.T173T GRIK2_uc003pqn.2_Silent_p.T173T|GRIK2_uc003pqo.3_Silent_p.T173T|GRIK2_uc010kcw.2_Silent_p.T173T NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 173 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) AAACCGTCACGGTTGTGTATG 0.398 HACE1 57531 broad.mit.edu 37 6 105239495 105239495 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:105239495G>T uc003pqu.1 - 11 1235 c.958C>A c.(958-960)CTT>ATT p.L320I HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.L320I NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 320 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) ATCCTTAAAAGGCTCTTCATT 0.318 PRDM1 639 broad.mit.edu 37 6 106536269 106536269 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:106536269C>T uc003prd.2 + 2 470 c.236C>T c.(235-237)GCG>GTG p.A79V NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 79 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q42fs*23(1)|p.?(1) haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) TCGGTTCAGGCGGAGGCATCC 0.498 D|N|Mis|F|S DLBCL PRDM1 639 broad.mit.edu 37 6 106553564 106553564 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:106553564G>A uc003prd.2 + 5 1763 c.1529G>A c.(1528-1530)TGT>TAT p.C510Y PRDM1_uc003pre.2_Missense_Mutation_p.C376Y NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 510 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GACAAGGCCTGTAGCCCCACA 0.672 D|N|Mis|F|S DLBCL ATG5 9474 broad.mit.edu 37 6 106634461 106634461 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:106634461G>A uc003prf.2 - 8 1135 c.782C>T c.(781-783)CCG>CTG p.P261L ATG5_uc010kdb.2_3'UTR|ATG5_uc003prg.2_Missense_Mutation_p.P183L|ATG5_uc010kdc.2_3'UTR NM_004849 NP_004840 Q9H1Y0 ATG5_HUMAN APG5 autophagy 5-like 261 apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification autophagic vacuole|pre-autophagosomal structure membrane protein binding large_intestine(1) 1 Breast(9;0.0296) all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216) BRCA - Breast invasive adenocarcinoma(8;0.00802) OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18) AAAATTATCCGGGTAGCTCAG 0.398 REV3L 5980 broad.mit.edu 37 6 111695847 111695847 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:111695847A>G uc003puy.3 - 13 4034 c.3711T>C c.(3709-3711)GCT>GCC p.A1237A REV3L_uc003pux.3_Silent_p.A1159A|REV3L_uc003puz.3_Silent_p.A1159A NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 1237 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) ACTTAACCTCAGCACCAGACT 0.353 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage FRK 2444 broad.mit.edu 37 6 116277749 116277749 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:116277749A>G uc003pwi.1 - 5 1271 c.824T>C c.(823-825)CTG>CCG p.L275P NM_002031 NP_002022 P42685 FRK_HUMAN fyn-related kinase 275 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding ovary(3)|lung(3) 6 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) TGCCTCCCTCAGGAAGTCATT 0.398 ROS1 6098 broad.mit.edu 37 6 117631391 117631391 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:117631391C>T uc003pxp.1 - 40 6486 c.6287G>A c.(6286-6288)CGG>CAG p.R2096Q ROS1_uc011ebi.1_RNA NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 2096 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) CTTCACTATCCGTGGACTGGT 0.393 T GOPC|ROS1 glioblastoma|NSCLC PTPRK 5796 broad.mit.edu 37 6 128311944 128311944 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:128311944T>C uc003qbk.2 - 21 3430 c.3063A>G c.(3061-3063)GAA>GAG p.E1021E PTPRK_uc003qbj.2_Silent_p.E1022E|PTPRK_uc010kfc.2_Silent_p.E1028E|PTPRK_uc011ebu.1_Silent_p.E1044E NM_002844 NP_002835 Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1021 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|skin(2)|pancreas(1)|kidney(1)|central_nervous_system(1) 8 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) TAACTACATATTCAGCAAGTG 0.328 C6orf191 253582 broad.mit.edu 37 6 130182311 130182311 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:130182311G>A uc003qbs.2 - 1 106 c.23C>T c.(22-24)GCT>GTT p.A8V NM_001010876 NP_001010876 Q5VVB8 CF191_HUMAN hypothetical protein LOC253582 8 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) CTTGCTTGGAGCAACTCTGAC 0.443 L3MBTL3 84456 broad.mit.edu 37 6 130370502 130370502 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:130370502G>A uc003qbt.2 + 4 348 c.178G>A c.(178-180)GCT>ACT p.A60T L3MBTL3_uc003qbu.2_Missense_Mutation_p.A60T NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 60 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AAAAGCAACTGCTACCACCAC 0.378 L3MBTL3 84456 broad.mit.edu 37 6 130454682 130454682 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:130454682C>A uc003qbt.2 + 21 2222 c.2052C>A c.(2050-2052)CCC>CCA p.P684P L3MBTL3_uc003qbu.2_Silent_p.P659P NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 684 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) CATGTCTGCCCTTGCGCTGGG 0.507 ENPP3 5169 broad.mit.edu 37 6 132045205 132045205 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:132045205A>G uc003qcu.3 + 20 2119 c.1772A>G c.(1771-1773)CAG>CGG p.Q591R ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.Q591R NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 591 Extracellular (Potential). immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) CAAGTGAATCAGATGCTAAAT 0.378 TNFAIP3 7128 broad.mit.edu 37 6 138195987 138195987 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:138195987G>A uc003qhr.2 + 3 367 c.301G>A c.(301-303)GGC>AGC p.G101S TNFAIP3_uc003qhs.2_Missense_Mutation_p.G101S NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 101 TRAF-binding.|OTU. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22)|p.G101fs*38(1) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CTCAGGTGACGGCAATTGCCT 0.488 D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma GRM1 2911 broad.mit.edu 37 6 146720722 146720722 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:146720722C>A uc010khw.1 + 8 3017 c.2547C>A c.(2545-2547)GCC>GCA p.A849A GRM1_uc010khv.1_Silent_p.A849A|GRM1_uc003qll.2_Silent_p.A849A|GRM1_uc011edz.1_Silent_p.A849A|GRM1_uc011eea.1_Silent_p.A849A NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 849 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TCCGCAGTGCCTTCACCACCT 0.532 GRM1 2911 broad.mit.edu 37 6 146755477 146755477 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:146755477G>A uc010khw.1 + 9 3600 c.3130G>A c.(3130-3132)GCG>ACG p.A1044T GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1044 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CTTCAGTACCGCGATCCCGGA 0.667 STXBP5 134957 broad.mit.edu 37 6 147588297 147588297 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:147588297T>C uc003qlz.2 + 7 869 c.708T>C c.(706-708)TAT>TAC p.Y236Y STXBP5_uc010khz.1_Silent_p.Y236Y|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_5'UTR NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 236 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) GATACACATATGATGAGGTAA 0.323 PCMT1 5110 broad.mit.edu 37 6 150123459 150123459 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:150123459G>A uc003qne.2 + 7 835 c.802G>A c.(802-804)GGG>AGG p.G268R PCMT1_uc003qna.2_Missense_Mutation_p.G268R|PCMT1_uc003qnb.2_Missense_Mutation_p.G268R|PCMT1_uc011eeg.1_Missense_Mutation_p.G233R|PCMT1_uc003qnc.2_Missense_Mutation_p.G147R|PCMT1_uc003qnd.2_Missense_Mutation_p.G233R|PCMT1_uc003qnf.2_Missense_Mutation_p.G233R NM_005389 NP_005380 protein-L-isoaspartate (D-aspartate) ovary(1) 1 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.221) OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207) GCCTCTGATGGGGGTGATATA 0.443 ZBTB2 57621 broad.mit.edu 37 6 151687158 151687158 + Missense_Mutation SNP T T C rs149628106 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:151687158T>C uc003qoh.2 - 3 1178 c.1043A>G c.(1042-1044)AAC>AGC p.N348S NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 348 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) CTGCTCCAGGTTGTCAATGTC 0.537 ZBTB2 57621 broad.mit.edu 37 6 151687648 151687648 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:151687648C>T uc003qoh.2 - 3 688 c.553G>A c.(553-555)GCC>ACC p.A185T NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) TTCACCTGGGCCAGATTTGAA 0.587 ARID1B 57492 broad.mit.edu 37 6 157488172 157488172 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:157488172A>G uc003qqn.2 + 9 2819 c.2667_splice c.e9-2 p.R889_splice ARID1B_uc003qqo.2_Splice_Site_p.R902_splice|ARID1B_uc003qqp.2_Splice_Site_p.R889_splice|ARID1B_uc010kjl.2_Splice_Site_p.R87_splice NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CTCTTCCTGTAGGCAAGGCAG 0.512 IGF2R 3482 broad.mit.edu 37 6 160494972 160494972 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:160494972G>A uc003qta.2 + 35 5279 c.5131G>A c.(5131-5133)GCT>ACT p.A1711T NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1711 Lumenal (Potential).|12. receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) TGCCGGAGCCGCTGTGTGCAA 0.463 T 6862 broad.mit.edu 37 6 166579295 166579295 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:166579295G>A uc003quu.1 - 4 998 c.505C>T c.(505-507)CGA>TGA p.R169* T_uc003qut.1_Nonsense_Mutation_p.R169*|T_uc003quv.1_Nonsense_Mutation_p.R169* NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 169 T-box. anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) ATGTGGATTCGAGGCTCATAC 0.498 Chordoma_Familial_Clustering_of TTLL2 83887 broad.mit.edu 37 6 167753909 167753909 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:167753909T>C uc003qvs.1 + 3 609 c.521T>C c.(520-522)CTG>CCG p.L174P TTLL2_uc011egr.1_RNA NM_031949 NP_114155 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 174 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GGCACTTCCCTGTACCAGTTC 0.522 MLLT4 4301 broad.mit.edu 37 6 168352326 168352326 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:168352326C>T uc003qwd.2 + 29 4410 c.4268C>T c.(4267-4269)GCC>GTC p.A1423V MLLT4_uc003qwb.1_Missense_Mutation_p.A1408V|MLLT4_uc003qwc.1_Missense_Mutation_p.A1424V|MLLT4_uc003qwg.1_Missense_Mutation_p.A733V NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 1424 Potential. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) AAGGAGAAGGCCCGCCTGGAG 0.602 T MLL AL THBS2 7058 broad.mit.edu 37 6 169637357 169637357 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:169637357C>T uc003qwt.2 - 10 1633 c.1385G>A c.(1384-1386)CGT>CAT p.R462H NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 462 TSP type-1 2. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) GTTGCAGAGACGGATGCGTGT 0.602 C6orf70 55780 broad.mit.edu 37 6 170162628 170162628 + Splice_Site SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:170162628G>C uc003qxg.1 + 9 993 c.960_splice c.e9+1 p.E320_splice C6orf70_uc011ehb.1_Splice_Site_p.E194_splice|C6orf70_uc003qxh.1_Splice_Site_p.E320_splice|C6orf70_uc010kky.1_Splice_Site_p.E194_splice NM_018341 NP_060811 Q5T6L9 CF070_HUMAN hypothetical protein LOC55780 integral to membrane ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) GACTGCTGAGGTAAGCTTGTT 0.348 HEATR2 54919 broad.mit.edu 37 7 813802 813802 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:813802G>A uc010krz.1 + 10 2069 c.2049G>A c.(2047-2049)GCG>GCA p.A683A HEATR2_uc003siz.2_Silent_p.A551A|HEATR2_uc003sjb.2_Silent_p.A63A|HEATR2_uc003sjc.2_Silent_p.A108A NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 683 protein binding skin(1) 1 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) GCCTCTGGGCGCTCACCAGCA 0.706 CYP2W1 54905 broad.mit.edu 37 7 1026290 1026290 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:1026290C>A uc003sjq.1 + 5 689 c.676C>A c.(676-678)CTG>ATG p.L226M CYP2W1_uc003sjr.1_Missense_Mutation_p.L226M NM_017781 NP_060251 Q8TAV3 CP2W1_HUMAN cytochrome P450, family 2, subfamily W, 226 xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) GCTCGGGGCCCTGCTCCAGCT 0.697 PSMG3 84262 broad.mit.edu 37 7 1608845 1608845 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:1608845G>A uc003skx.2 - 1 785 c.131C>T c.(130-132)ACC>ATC p.T44I PSMG3_uc011jvx.1_Missense_Mutation_p.T44I|KIAA1908_uc003sla.2_5'Flank|KIAA1908_uc003sky.1_5'Flank|KIAA1908_uc003skz.1_5'Flank NM_032302 NP_115678 Q9BT73 PSMG3_HUMAN proteasome assembling chaperone 3 44 0 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15) GGAGACCAGGGTGCCCATCTT 0.597 EIF3B 8662 broad.mit.edu 37 7 2405962 2405962 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:2405962A>T uc003slx.2 + 7 1251 c.1168A>T c.(1168-1170)ACC>TCC p.T390S EIF3B_uc003sly.2_Missense_Mutation_p.T390S|EIF3B_uc003sma.2_Missense_Mutation_p.T118S NM_003751 NP_003742 P55884 EIF3B_HUMAN eukaryotic translation initiation factor 3, 390 Sufficient for interaction with EIF3E.|WD 2. 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) GTACCTGGTGACCTTTAGCCC 0.547 CARD11 84433 broad.mit.edu 37 7 2976790 2976790 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:2976790G>A uc003smv.2 - 9 1626 c.1222C>T c.(1222-1224)CGC>TGC p.R408C NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 408 Potential. 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) TCCAGCTCGCGGATCTGCTTC 0.587 Mis DLBCL RNF216 54476 broad.mit.edu 37 7 5751450 5751450 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:5751450G>A uc003soy.1 - 13 2022 c.1832C>T c.(1831-1833)CCG>CTG p.P611L RNF216_uc010ksz.1_Missense_Mutation_p.P233L|RNF216_uc010kta.1_Missense_Mutation_p.P233L|RNF216_uc011jwj.1_Missense_Mutation_p.P233L|RNF216_uc003sox.1_Missense_Mutation_p.P668L NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 611 IBR-type. 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) CAACAGAGCCGGAAAGCTACA 0.453 USP42 84132 broad.mit.edu 37 7 6189484 6189484 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:6189484G>A uc011jwo.1 + 13 1780 c.1657G>A c.(1657-1659)GTT>ATT p.V553I USP42_uc010kth.1_Missense_Mutation_p.V486I|USP42_uc011jwp.1_Missense_Mutation_p.V553I|USP42_uc011jwq.1_Missense_Mutation_p.V360I|USP42_uc011jwr.1_Missense_Mutation_p.V398I NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 553 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) TACCAAGCCCGTTCCCTCTTC 0.433 DAGLB 221955 broad.mit.edu 37 7 6449982 6449982 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:6449982G>A uc003sqa.2 - 14 1769 c.1599C>T c.(1597-1599)TAC>TAT p.Y533Y DAGLB_uc003spy.2_Silent_p.Y79Y|DAGLB_uc003spz.2_Silent_p.Y230Y|DAGLB_uc011jwt.1_Silent_p.Y347Y|DAGLB_uc011jwu.1_Silent_p.Y404Y|DAGLB_uc003sqb.2_Silent_p.Y252Y|DAGLB_uc003sqc.2_Silent_p.Y252Y|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Silent_p.Y492Y NM_139179 NP_631918 Q8NCG7 DGLB_HUMAN diacylglycerol lipase, beta isoform 1 533 Cytoplasmic (Potential). lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 Ovarian(82;0.232) UCEC - Uterine corpus endometrioid carcinoma (126;0.102) CAAACAGTTCGTACCACAAAC 0.567 MIOS 54468 broad.mit.edu 37 7 7612652 7612652 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:7612652A>G uc003srf.2 + 4 854 c.546A>G c.(544-546)GGA>GGG p.G182G MIOS_uc010ktp.1_Silent_p.G182G NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 182 WD 3. 0 ATGAGTTAGGACAGAATGATG 0.383 TWIST1 7291 broad.mit.edu 37 7 19156645 19156645 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:19156645C>T uc003sum.2 - 1 651 c.300G>A c.(298-300)CCG>CCA p.P100P NM_000474 NP_000465 Q15672 TWST1_HUMAN twist 100 aortic valve morphogenesis|cellular response to hypoxia|embryonic camera-type eye formation|embryonic cranial skeleton morphogenesis|eyelid development in camera-type eye|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of histone phosphorylation|negative regulation of osteoblast differentiation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of cell motility|positive regulation of epithelial to mesenchymal transition|positive regulation of fatty acid beta-oxidation|positive regulation of monocyte chemotactic protein-1 production|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of tumor necrosis factor production|regulation of bone mineralization nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 CGTAAGACTGCGGACTCccgc 0.522 Saethre-Chotzen_syndrome SP4 6671 broad.mit.edu 37 7 21550662 21550662 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:21550662G>A uc003sva.2 + 6 2311 c.2130G>A c.(2128-2130)CCG>CCA p.P710P SP4_uc003svb.2_Silent_p.P397P NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 710 C2H2-type 3. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 TTGAATGCCCGGAATGTTCTA 0.368 GPNMB 10457 broad.mit.edu 37 7 23309629 23309629 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:23309629G>A uc003swc.2 + 9 1461 c.1300G>A c.(1300-1302)GAG>AAG p.E434K GPNMB_uc003swb.2_Missense_Mutation_p.E422K|GPNMB_uc011jyy.1_Missense_Mutation_p.E376K|GPNMB_uc011jyz.1_Missense_Mutation_p.E323K NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 434 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) CCCCACCTGCGAGATCACCCA 0.577 TRA2A 29896 broad.mit.edu 37 7 23545380 23545380 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:23545380G>A uc003swi.2 - 7 1037 c.823C>T c.(823-825)CGT>TGT p.R275C TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.R174C|TRA2A_uc011jzd.1_Missense_Mutation_p.R174C NM_013293 NP_037425 Q13595 TRA2A_HUMAN transformer-2 alpha 275 Arg/Ser-rich (RS2 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding ovary(1) 1 CTGTAGGAACGAGATCTTGAT 0.338 NPY 4852 broad.mit.edu 37 7 24324899 24324899 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:24324899C>A uc003sww.1 + 2 126 c.40C>A c.(40-42)CTC>ATC p.L14I NM_000905 NP_000896 P01303 NPY_HUMAN neuropeptide Y precursor 14 adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission cell|extracellular space calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity 0 CGGACTGACCCTCGCCCTGTC 0.677 C7orf31 136895 broad.mit.edu 37 7 25194712 25194712 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:25194712C>T uc003sxn.1 - 6 1074 c.513G>A c.(511-513)ACG>ACA p.T171T C7orf31_uc003sxm.1_Silent_p.T13T NM_138811 NP_620166 Q8N865 CG031_HUMAN hypothetical protein LOC136895 171 0 CTTTAATGCCCGTGTAGAGGT 0.527 SFRP4 6424 broad.mit.edu 37 7 37947147 37947147 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:37947147T>C uc003tfo.3 - 6 1361 c.975A>G c.(973-975)CCA>CCG p.P325P NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 325 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 TGGGACTGGCTGGTTTGGGAG 0.502 EPDR1 54749 broad.mit.edu 37 7 37960370 37960370 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:37960370C>T uc003tfp.2 + 1 208 c.189C>T c.(187-189)CGC>CGT p.R63R EPDR1_uc003tfq.2_Silent_p.R63R|EPDR1_uc010kxh.2_5'Flank NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor Error:Variant_position_missing_in_Q9UM22_after_alignment cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 CCGGGACTCGCGCGTCCGGAT 0.677 CDK13 8621 broad.mit.edu 37 7 40037187 40037187 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:40037187C>T uc003thh.3 + 3 2248 c.1966C>T c.(1966-1968)CCA>TCA p.P656S CDK13_uc003thi.3_Missense_Mutation_p.P656S|CDK13_uc011kbf.1_Missense_Mutation_p.P42S NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 656 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 CCCTGAGCTACCAGGAGGAGA 0.408 INHBA 3624 broad.mit.edu 37 7 41730044 41730044 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:41730044G>T uc003thq.2 - 2 720 c.485C>A c.(484-486)CCC>CAC p.P162H INHBA_uc003thr.2_Missense_Mutation_p.P162H NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 162 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 GTTGGCCTTGGGGACTTTTAG 0.582 TSP Lung(11;0.080) INHBA 3624 broad.mit.edu 37 7 41739728 41739728 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:41739728G>A uc003thq.2 - 1 480 c.245C>T c.(244-246)GCG>GTG p.A82V LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.A82V|LOC285954_uc003ths.2_Intron NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 82 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 GTTCAGAAGCGCCGCCTTGGG 0.517 TSP Lung(11;0.080) GLI3 2737 broad.mit.edu 37 7 42005606 42005606 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:42005606G>A uc011kbh.1 - 15 3156 c.3065C>T c.(3064-3066)CCG>CTG p.P1022L GLI3_uc011kbg.1_Missense_Mutation_p.P963L NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1022 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 GCTGAAGCGCGGCACACGAGG 0.736 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome GLI3 2737 broad.mit.edu 37 7 42063103 42063103 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:42063103G>A uc011kbh.1 - 10 1552 c.1461C>T c.(1459-1461)TGC>TGT p.C487C GLI3_uc011kbg.1_Silent_p.C428C NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 487 C2H2-type 1. 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 ACTCCCTCGCGCAGCCTTCCC 0.532 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome DBNL 28988 broad.mit.edu 37 7 44099737 44099737 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:44099737T>C uc003tjp.3 + 12 1236 c.1138T>C c.(1138-1140)TAC>CAC p.Y380H DBNL_uc003tjo.3_Missense_Mutation_p.Y381H|DBNL_uc003tjr.3_Missense_Mutation_p.Y253H|DBNL_uc003tjq.3_Missense_Mutation_p.Y389H|DBNL_uc011kbm.1_Missense_Mutation_p.Y356H|DBNL_uc011kbn.1_Missense_Mutation_p.Y277H|DBNL_uc011kbo.1_Missense_Mutation_p.Y281H|DBNL_uc011kbp.1_Missense_Mutation_p.Y332H|DBNL_uc011kbq.1_Missense_Mutation_p.Y305H|DBNL_uc011kbr.1_Missense_Mutation_p.Y329H|DBNL_uc011kbs.1_Missense_Mutation_p.Y285H NM_001014436 NP_001014436 Q9UJU6 DBNL_HUMAN drebrin-like isoform b 380 SH3. activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding skin(1) 1 CCGTGCCCTGTACGACTACCA 0.622 AEBP1 165 broad.mit.edu 37 7 44152379 44152379 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:44152379T>C uc003tkb.2 + 18 2745 c.2440T>C c.(2440-2442)TGG>CGG p.W814R AEBP1_uc003tkc.3_Missense_Mutation_p.W389R|AEBP1_uc003tkd.2_Missense_Mutation_p.W64R NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 814 Interaction with PTEN (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 CATCTTCCGGTGGCTTGCCAT 0.677 TBRG4 9238 broad.mit.edu 37 7 45141593 45141593 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:45141593G>A uc003tmv.2 - 8 1524 c.1398C>T c.(1396-1398)CCC>CCT p.P466P TBRG4_uc003tmu.2_Silent_p.P291P|TBRG4_uc003tmw.2_Silent_p.P356P|TBRG4_uc003tmx.2_Silent_p.P356P|TBRG4_uc011kcd.1_Silent_p.P477P NM_004749 NP_004740 Q969Z0 TBRG4_HUMAN cell cycle progression 2 protein isoform 1 466 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 CCGAGTACTCGGGGTACTCCA 0.612 TNS3 64759 broad.mit.edu 37 7 47385878 47385878 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:47385878C>T uc003tnv.2 - 18 2725 c.2358G>A c.(2356-2358)GGG>GGA p.G786G TNS3_uc003tnw.2_Silent_p.G786G NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 786 focal adhesion protein binding ovary(4) 4 AGGGCAGCTGCCCCCCAGCAT 0.602 PKD1L1 168507 broad.mit.edu 37 7 47920397 47920397 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:47920397G>A uc003tny.1 - 21 3449 c.3449C>T c.(3448-3450)ACA>ATA p.T1150I NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1150 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TGTCTGTTCTGTAATACCTGC 0.468 UPP1 7378 broad.mit.edu 37 7 48142893 48142893 + Splice_Site SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:48142893G>A uc003toj.2 + 7 851 c.322_splice c.e7-1 p.H108_splice UPP1_uc003tok.2_Splice_Site_p.H108_splice|UPP1_uc003tol.2_Splice_Site_p.H108_splice|UPP1_uc011kcg.1_Splice_Site_p.H108_splice|UPP1_uc011kch.1_Intron|UPP1_uc003ton.2_Intron|UPP1_uc003too.2_Intron NM_181597 NP_853628 Q16831 UPP1_HUMAN uridine phosphorylase 1 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity 0 CCTGGTTCCAGCATGGTATGG 0.453 ABCA13 154664 broad.mit.edu 37 7 48314041 48314041 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:48314041T>C uc003toq.2 + 17 4803 c.4778T>C c.(4777-4779)GTA>GCA p.V1593A ABCA13_uc010kyr.2_Missense_Mutation_p.V1096A NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1593 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GTAAACAGTGTAGGCAATTCC 0.323 ABCA13 154664 broad.mit.edu 37 7 48563962 48563962 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:48563962A>G uc003toq.2 + 54 14195 c.14170A>G c.(14170-14172)AGT>GGT p.S4724G ABCA13_uc010kys.1_Missense_Mutation_p.S1799G|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.S454G NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4724 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ATACAACCTTAGTAAACATTA 0.353 FIGNL1 63979 broad.mit.edu 37 7 50513124 50513124 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:50513124C>T uc003tpc.2 - 4 2239 c.1862G>A c.(1861-1863)CGC>CAC p.R621H FIGNL1_uc003tpb.2_Missense_Mutation_p.R510H|FIGNL1_uc003tpd.2_Missense_Mutation_p.R621H|FIGNL1_uc003tpe.2_Missense_Mutation_p.R621H|FIGNL1_uc010kyy.2_Missense_Mutation_p.R621H NM_001042762 NP_001036227 Q6PIW4 FIGL1_HUMAN fidgetin-like 1 621 ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle cytoplasm|nucleus ATP binding|magnesium ion binding|nucleoside-triphosphatase activity ovary(3) 3 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06) TTGTAAACTGCGAATAGGACC 0.433 SBDS 51119 broad.mit.edu 37 7 66458338 66458338 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:66458338T>C uc003tvm.1 - 3 509 c.325A>G c.(325-327)AGG>GGG p.R109G NM_016038 NP_057122 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome protein 109 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding ovary(1) 1 GCAATGTCCCTAAACATCTGC 0.378 Gene Conversion AML|MDS Shwachman-Diamond_syndrome AUTS2 26053 broad.mit.edu 37 7 70255416 70255416 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:70255416C>T uc003tvw.3 + 19 3957 c.3214C>T c.(3214-3216)CGG>TGG p.R1072W AUTS2_uc003tvx.3_Missense_Mutation_p.R1048W|AUTS2_uc011keg.1_Missense_Mutation_p.R524W NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1072 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) GGACCCCATCCGGGACCCCTT 0.637 AUTS2 26053 broad.mit.edu 37 7 70255803 70255803 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:70255803G>A uc003tvw.3 + 19 4344 c.3601G>A c.(3601-3603)GCG>ACG p.A1201T AUTS2_uc003tvx.3_Missense_Mutation_p.A1177T|AUTS2_uc011keg.1_Missense_Mutation_p.A653T NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1201 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) CAGCCCCACCGCGGGCAACCA 0.706 SRCRB4D 136853 broad.mit.edu 37 7 76033720 76033720 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:76033720G>T uc003ufb.2 - 2 385 c.37C>A c.(37-39)CTG>ATG p.L13M ZP3_uc003ufc.3_Intron NM_080744 NP_542782 Q8WTU2 SRB4D_HUMAN scavenger receptor cysteine rich domain 13 extracellular region|membrane scavenger receptor activity pancreas(1) 1 TTCTCATCCAGCTGGGGACCA 0.577 CACNA2D1 781 broad.mit.edu 37 7 81637062 81637062 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:81637062A>G uc003uhr.1 - 16 1629 c.1373T>C c.(1372-1374)CTT>CCT p.L458P uc003uhs.1_5'Flank NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 458 Extracellular (Potential).|Cache. voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AGTAATGACAAGTCCCAGTTC 0.308 ANKIB1 54467 broad.mit.edu 37 7 92021605 92021605 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:92021605A>G uc003ulw.2 + 17 2658 c.2282A>G c.(2281-2283)GAG>GGG p.E761G ANKIB1_uc010lew.1_Intron NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 761 protein binding|zinc ion binding lung(1) 1 all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GCATCACCAGAGGTAATTGTT 0.333 GNGT1 2792 broad.mit.edu 37 7 93540134 93540134 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:93540134C>T uc003unc.1 + 3 277 c.129C>T c.(127-129)TAC>TAT p.Y43Y GNGT1_uc003umx.1_RNA NM_021955 NP_068774 P63211 GBG1_HUMAN guanine nucleotide binding protein (G protein), 43 G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex GTPase activity|signal transducer activity 0 all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) TAAGAGATTACGTTGAAGAAC 0.418 CASD1 64921 broad.mit.edu 37 7 94168352 94168352 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:94168352T>C uc003uni.3 + 10 1567 c.1340T>C c.(1339-1341)ATT>ACT p.I447T CASD1_uc003unj.3_Missense_Mutation_p.I447T NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 447 Helical; (Potential). integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) ATTTATCACATTTCTGGAGCA 0.328 CASD1 64921 broad.mit.edu 37 7 94168365 94168365 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:94168365T>C uc003uni.3 + 10 1580 c.1353T>C c.(1351-1353)AGT>AGC p.S451S CASD1_uc003unj.3_Silent_p.S451S NM_022900 NP_075051 Q96PB1 CASD1_HUMAN CAS1 domain containing 1 precursor 451 Helical; (Potential). integral to membrane ovary(2) 2 all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CTGGAGCAAGTACAGTAAGTA 0.328 PON3 5446 broad.mit.edu 37 7 95019491 95019491 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:95019491G>T uc003unt.2 - 3 201 c.176C>A c.(175-177)CCT>CAT p.P59H PON1_uc011kih.1_Intron|PON3_uc011kii.1_Missense_Mutation_p.P59H NM_000940 NP_000931 Q15166 PON3_HUMAN paraoxonase 3 59 LP -> FL (in Ref. 1; AAK07629). 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) CAGCCCACTAGGAAGTATATC 0.398 ZKSCAN5 23660 broad.mit.edu 37 7 99129068 99129068 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:99129068T>C uc003uqv.2 + 7 1840 c.1716T>C c.(1714-1716)ACT>ACC p.T572T ZKSCAN5_uc010lfx.2_Silent_p.T572T|ZKSCAN5_uc003uqw.2_Silent_p.T572T|ZKSCAN5_uc003uqx.2_Silent_p.T499T|ZKSCAN5_uc003uqy.2_Silent_p.T308T NM_145102 NP_659570 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 572 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GAATACACACTGGGGAGAAAC 0.463 ZSCAN21 7589 broad.mit.edu 37 7 99655395 99655395 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:99655395G>A uc003uso.2 + 3 618 c.474G>A c.(472-474)CCG>CCA p.P158P ZSCAN21_uc003usn.1_Silent_p.P157P NM_145914 NP_666019 Q9Y5A6 ZSC21_HUMAN zinc finger protein 38 158 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) AGGAATCCCCGAGCAGCATGC 0.537 TAF6 6878 broad.mit.edu 37 7 99709732 99709732 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:99709732G>A uc003uti.2 - 7 800 c.719C>T c.(718-720)GCG>GTG p.A240V TAF6_uc003utg.2_Missense_Mutation_p.A162V|TAF6_uc003uth.2_Missense_Mutation_p.A297V|TAF6_uc003utk.2_Missense_Mutation_p.A240V|TAF6_uc011kji.1_Missense_Mutation_p.A277V|TAF6_uc003utj.2_Missense_Mutation_p.A230V|TAF6_uc003utl.2_Missense_Mutation_p.A240V|TAF6_uc003utm.2_Missense_Mutation_p.A240V|TAF6_uc003utn.1_RNA NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 240 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGCCCTCACCGCCCTCTTGGC 0.657 C7orf43 55262 broad.mit.edu 37 7 99754145 99754145 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:99754145C>T uc003utr.2 - 8 1284 c.1104G>A c.(1102-1104)CCG>CCA p.P368P C7orf43_uc010lgo.2_Translation_Start_Site|C7orf43_uc010lgp.2_Translation_Start_Site|C7orf43_uc011kjj.1_Silent_p.P136P|C7orf43_uc003uts.2_Silent_p.P99P NM_018275 NP_060745 Q8WVR3 CG043_HUMAN hypothetical protein LOC55262 368 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCACAAAACACGGGCGGTCCA 0.562 VGF 7425 broad.mit.edu 37 7 100806796 100806796 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:100806796G>C uc003uxx.3 - 2 1547 c.1329C>G c.(1327-1329)GAC>GAG p.D443E NM_003378 NP_003369 O15240 VGF_HUMAN VGF nerve growth factor inducible precursor 443 Asp/Glu-rich (acidic). response to cAMP extracellular space|transport vesicle growth factor activity 0 Lung NSC(181;0.168)|all_lung(186;0.215) tctcctcgtcgtcctcctcct 0.483 ZNHIT1 10467 broad.mit.edu 37 7 100866015 100866015 + Silent SNP C C T rs142012618 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:100866015C>T uc003uye.2 + 2 645 c.153C>T c.(151-153)CTC>CTT p.L51L ZNHIT1_uc003uyf.2_RNA NM_006349 NP_006340 O43257 ZNHI1_HUMAN zinc finger, HIT domain containing 1 51 metal ion binding|protein binding large_intestine(1) 1 Lung NSC(181;0.168)|all_lung(186;0.215) TCCCTCAGCTCGGCAAGAGAC 0.657 CUX1 1523 broad.mit.edu 37 7 101821799 101821799 + Silent SNP C C T rs139114802 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:101821799C>T uc003uyx.3 + 11 917 c.879C>T c.(877-879)GCC>GCT p.A293A CUX1_uc003uys.3_Silent_p.A304A|CUX1_uc003uyt.2_Silent_p.A304A|CUX1_uc011kkn.1_Silent_p.A265A|CUX1_uc003uyw.2_Silent_p.A258A|CUX1_uc003uyv.2_Silent_p.A288A|CUX1_uc003uyu.2_Silent_p.A302A NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 293 Potential. 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 TTGAGTTGGCCGCCAAGGAGC 0.617 MLL5 55904 broad.mit.edu 37 7 104747115 104747115 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:104747115C>T uc003vcm.2 + 20 3277 c.2743C>T c.(2743-2745)CGG>TGG p.R915W MLL5_uc010ljc.2_Missense_Mutation_p.R915W|MLL5_uc010lje.1_Intron|MLL5_uc010ljf.1_5'Flank|MLL5_uc010ljg.2_5'Flank|MLL5_uc010ljh.1_5'Flank NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 915 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 CACGCCTCCACGGATAAAATC 0.443 LAMB4 22798 broad.mit.edu 37 7 107671340 107671340 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:107671340G>A uc010ljo.1 - 32 4987 c.4903C>T c.(4903-4905)CAG>TAG p.Q1635* LAMB4_uc003vey.2_Nonsense_Mutation_p.Q1635*|LAMB4_uc010ljp.1_Nonsense_Mutation_p.Q604* NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 1635 Potential.|Domain I. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 AACTTGGTCTGCAGCAGGGAA 0.488 MET 4233 broad.mit.edu 37 7 116397718 116397718 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:116397718G>A uc003vij.2 + 8 2179 c.1992G>A c.(1990-1992)CCG>CCA p.P664P MET_uc010lkh.2_Silent_p.P664P|MET_uc011kne.1_Silent_p.P636P|MET_uc011knf.1_Silent_p.P664P|MET_uc011kng.1_Silent_p.P664P|MET_uc011knh.1_Silent_p.P664P|MET_uc011kni.1_Silent_p.P664P|MET_uc011knj.1_Silent_p.P234P NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 664 Extracellular (Potential).|IPT/TIG 2. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) GTATTTCGCCGAAATACGGTC 0.333 Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) PTPRZ1 5803 broad.mit.edu 37 7 121650506 121650506 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:121650506G>A uc003vjy.2 + 12 1801 c.1406G>A c.(1405-1407)CGC>CAC p.R469H PTPRZ1_uc003vjz.2_Missense_Mutation_p.R469H|PTPRZ1_uc011knt.1_5'UTR NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 469 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 CACTACAATCGCATAGGGACG 0.428 GCC1 79571 broad.mit.edu 37 7 127225103 127225103 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:127225103A>G uc003vma.2 - 1 552 c.134T>C c.(133-135)CTG>CCG p.L45P NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 45 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 CTCCTTCAGCAGGCTTTTATA 0.567 OREG0003808 type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay LEP 3952 broad.mit.edu 37 7 127894749 127894749 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:127894749C>G uc003vml.2 + 3 494 c.437C>G c.(436-438)GCC>GGC p.A146G LEP_uc003vmm.2_Missense_Mutation_p.A145G NM_000230 NP_000221 P41159 LEP_HUMAN leptin precursor 146 adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth extracellular space 0 GAGGTGGTGGCCCTGAGCAGG 0.622 FLNC 2318 broad.mit.edu 37 7 128493526 128493526 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:128493526A>G uc003vnz.3 + 38 6421 c.6212A>G c.(6211-6213)TAT>TGT p.Y2071C FLNC_uc003voa.3_Missense_Mutation_p.Y2038C NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2071 Filamin 19. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CCCCCAGGTTATGGGGGCTTG 0.577 ZC3HC1 51530 broad.mit.edu 37 7 129662199 129662199 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:129662199G>A uc003vpi.2 - 9 1427 c.1400C>T c.(1399-1401)GCG>GTG p.A467V ZC3HC1_uc003vph.2_Missense_Mutation_p.A311V|ZC3HC1_uc010lma.2_Missense_Mutation_p.A283V NM_016478 NP_057562 Q86WB0 NIPA_HUMAN zinc finger, C3HC type 1 467 cell division|mitosis nucleus protein kinase binding|zinc ion binding 0 Melanoma(18;0.0435) CTGTTTGTGCGCCAAGAGGAT 0.562 CPA5 93979 broad.mit.edu 37 7 130007750 130007750 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:130007750G>A uc010lmd.1 + 13 1662 c.1042G>A c.(1042-1044)GAT>AAT p.D348N CPA5_uc003vps.2_Missense_Mutation_p.D348N|CPA5_uc003vpt.2_Intron|CPA5_uc010lme.1_Missense_Mutation_p.D348N|CPA5_uc003vpu.1_Missense_Mutation_p.D348N|uc003vpv.1_RNA NM_001127441 NP_001120913 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 isoform 1 348 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Melanoma(18;0.0435) CTTGCAGTACGATCTTGCCAA 0.582 AKR1B10 57016 broad.mit.edu 37 7 134225823 134225823 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:134225823C>A uc003vrr.2 + 10 1253 c.933C>A c.(931-933)CCC>CCA p.P311P NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 311 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 AAGACTATCCCTTCAATGCAG 0.398 HIPK2 28996 broad.mit.edu 37 7 139268706 139268706 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:139268706C>T uc003vvf.3 - 13 2996 c.2822G>A c.(2821-2823)CGT>CAT p.R941H HIPK2_uc003vvd.3_Missense_Mutation_p.R914H NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 941 Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).|Interaction with AXIN1 (By similarity). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding p.R941H(1) ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) GTGCCCAGCACGCTGCTGCAC 0.577 DENND2A 27147 broad.mit.edu 37 7 140301369 140301369 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:140301369C>T uc010lnj.2 - 1 974 c.829G>A c.(829-831)GGA>AGA p.G277R DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.G277R|DENND2A_uc003vvw.2_Missense_Mutation_p.G277R|DENND2A_uc003vvx.2_Missense_Mutation_p.G277R NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 277 ovary(3)|breast(1) 4 Melanoma(164;0.00956) TCCCCTTCTCCGGCATGTTTG 0.438 MGAM 8972 broad.mit.edu 37 7 141739966 141739966 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:141739966G>A uc003vwy.2 + 20 2422 c.2368G>A c.(2368-2370)GAG>AAG p.E790K NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 790 Lumenal (Potential).|Maltase. 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) GTATGACTACGAGACTGTAAG 0.418 MGAM 8972 broad.mit.edu 37 7 141752641 141752641 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:141752641A>G uc003vwy.2 + 26 3070 c.3016A>G c.(3016-3018)AGT>GGT p.S1006G NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1006 Lumenal (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) ATACTCTGTCAGTGATGTTCA 0.473 FAM131B 9715 broad.mit.edu 37 7 143054384 143054384 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:143054384A>G uc003wct.2 - 5 2221 c.515T>C c.(514-516)ATG>ACG p.M172T FAM131B_uc010loz.2_Missense_Mutation_p.M140T|FAM131B_uc003wcu.3_Missense_Mutation_p.M172T|FAM131B_uc010lpa.2_Missense_Mutation_p.M200T NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 172 0 Melanoma(164;0.205) CTGACTGTCCATCAGTTCCTG 0.522 ZYX 7791 broad.mit.edu 37 7 143079937 143079937 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:143079937G>A uc003wcw.2 + 5 700 c.545G>A c.(544-546)AGT>AAT p.S182N ZYX_uc011ktd.1_Missense_Mutation_p.S25N|ZYX_uc003wcx.2_Missense_Mutation_p.S182N|ZYX_uc011kte.1_Missense_Mutation_p.S151N|ZYX_uc011ktf.1_Missense_Mutation_p.S25N NM_001010972 NP_001010972 Q15942 ZYX_HUMAN zyxin 182 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) ACTCCATTCAGTTCCAAGTCC 0.622 OR6B1 135946 broad.mit.edu 37 7 143701249 143701249 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:143701249C>T uc003wdt.1 + 1 160 c.160C>T c.(160-162)CCA>TCA p.P54S NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 54 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) GCAAAATCGGCCACTGCACAA 0.473 CHPF2 54480 broad.mit.edu 37 7 150932678 150932678 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:150932678G>A uc003wjr.1 + 2 2321 c.808G>A c.(808-810)GGC>AGC p.G270S CHPF2_uc003wjq.1_Missense_Mutation_p.G262S|MIR671_hsa-mir-671|MI0003760_5'Flank NM_019015 NP_061888 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 270 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(1) 1 TCTGGGCGTCGGCTGTGTCTC 0.592 HTR5A 3361 broad.mit.edu 37 7 154863287 154863287 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:154863287T>C uc003wlu.1 + 1 742 c.678T>C c.(676-678)GCT>GCC p.A226A uc011kvt.1_5'Flank|uc003wlt.2_5'Flank NM_024012 NP_076917 P47898 5HT5A_HUMAN 5-hydroxytryptamine receptor 5A 226 Cytoplasmic (By similarity). integral to plasma membrane serotonin receptor activity ovary(2)|large_intestine(1) 3 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) TCTACAAGGCTGCCAAGTTCC 0.552 DLGAP2 9228 broad.mit.edu 37 8 1497246 1497246 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:1497246G>A uc003wpl.2 + 2 484 c.387G>A c.(385-387)ACG>ACA p.T129T DLGAP2_uc003wpm.2_Silent_p.T129T NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 208 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCTTCCACACGCTGCAGTACC 0.687 CSMD1 64478 broad.mit.edu 37 8 3046521 3046521 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:3046521C>A uc011kwk.1 - 35 5804 c.5414G>T c.(5413-5415)GGC>GTC p.G1805V CSMD1_uc011kwj.1_Missense_Mutation_p.G1197V|CSMD1_uc003wqe.2_Missense_Mutation_p.G961V|CSMD1_uc010lrg.2_5'Flank NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1805 Extracellular (Potential).|CUB 11. 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) AGTGAAATTGCCACTGCAGGG 0.458 CSMD1 64478 broad.mit.edu 37 8 3263662 3263662 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:3263662G>A uc011kwk.1 - 15 2546 c.2156C>T c.(2155-2157)TCG>TTG p.S719L CSMD1_uc011kwj.1_Missense_Mutation_p.S111L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 719 Sushi 4.|Extracellular (Potential). 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) GAAAGAAACCGAGCTCCCGAG 0.498 ANGPT2 285 broad.mit.edu 37 8 6366532 6366532 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:6366532G>A uc003wqj.3 - 8 1580 c.1251C>T c.(1249-1251)AGC>AGT p.S417S MCPH1_uc003wqi.2_Intron|ANGPT2_uc003wqk.3_Silent_p.S416S|ANGPT2_uc010lri.2_Silent_p.S365S|ANGPT2_uc003wql.3_Silent_p.S416S NM_001147 NP_001138 O15123 ANGP2_HUMAN angiopoietin 2 isoform a precursor 417 Fibrinogen C-terminal. angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway extracellular space metal ion binding|receptor tyrosine kinase binding upper_aerodigestive_tract(1) 1 Hepatocellular(245;0.0663) Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226) TTCCTGGTTGGCTGATGCTGC 0.408 TNKS 8658 broad.mit.edu 37 8 9413606 9413606 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:9413606C>A uc003wss.2 + 1 162 c.157C>A c.(157-159)CTG>ATG p.L53M TNKS_uc011kwv.1_Missense_Mutation_p.L53M|uc003wsr.1_RNA NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 53 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) GGCCAGCGGCCTGGCCCCCTT 0.791 RP1L1 94137 broad.mit.edu 37 8 10465175 10465175 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:10465175A>G uc003wtc.2 - 4 6662 c.6433T>C c.(6433-6435)TCA>CCA p.S2145P NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2145 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) ACACCTTCTGACTCAGGCTGG 0.602 RP1L1 94137 broad.mit.edu 37 8 10470245 10470245 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:10470245G>A uc003wtc.2 - 4 1592 c.1363C>T c.(1363-1365)CCA>TCA p.P455S NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 455 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CTGGAGGCTGGGCTGGCACTG 0.721 DLC1 10395 broad.mit.edu 37 8 12957275 12957275 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:12957275G>A uc003wwm.2 - 9 3015 c.2571C>T c.(2569-2571)AGC>AGT p.S857S DLC1_uc003wwk.1_Silent_p.S420S|DLC1_uc003wwl.1_Silent_p.S454S|DLC1_uc011kxx.1_Silent_p.S346S NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 857 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 ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 TGGGGCTGTCGCTACTGTTTT 0.582 MTUS1 57509 broad.mit.edu 37 8 17611729 17611729 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:17611729C>T uc003wxv.2 - 2 2062 c.1588G>A c.(1588-1590)GTC>ATC p.V530I MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.V530I|MTUS1_uc010lsz.2_Missense_Mutation_p.V530I NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 530 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) CTGGGCGTGACCTTTGATAAA 0.438 PCM1 5108 broad.mit.edu 37 8 17823525 17823525 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:17823525C>T uc003wyi.3 + 19 3295 c.2873C>T c.(2872-2874)CCT>CTT p.P958L PCM1_uc011kyh.1_Missense_Mutation_p.P958L|PCM1_uc003wyj.3_Missense_Mutation_p.P959L NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 958 centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) AACAATTGCCCTTTTTCGGCA 0.388 T RET|JAK2 papillary thyroid|CML|MPD INTS10 55174 broad.mit.edu 37 8 19677153 19677153 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:19677153C>T uc003wzj.2 + 3 398 c.267C>T c.(265-267)AAC>AAT p.N89N NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 89 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) CATTAAGGAACGATTCACAGG 0.313 FAM160B2 64760 broad.mit.edu 37 8 21958199 21958199 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:21958199G>A uc011kyx.1 + 11 1487 c.1436G>A c.(1435-1437)CGC>CAC p.R479H FAM160B2_uc011kyy.1_RNA NM_022749 NP_073586 Q86V87 F16B2_HUMAN retinoic acid induced 16 479 0 CTTGAGGGCCGCCCTTACGTG 0.622 LGI3 203190 broad.mit.edu 37 8 22005871 22005871 + Silent SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:22005871C>A uc003xav.2 - 8 1738 c.1449G>T c.(1447-1449)CTG>CTT p.L483L LGI3_uc010ltu.2_Silent_p.L459L NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 483 EAR 6. 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) AATCACTGCCCAGTGCCAGGT 0.652 POLR3D 661 broad.mit.edu 37 8 22106824 22106824 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:22106824T>C uc003xbl.2 + 7 1004 c.921_splice c.e7+2 p.R307_splice POLR3D_uc003xbm.2_Splice_Site_p.R307_splice|POLR3D_uc011kze.1_Intron NM_001722 NP_001713 P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide innate immune response|positive regulation of 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 0 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) AAAGACCGAGTACGCTCAGAC 0.602 PPP3CC 5533 broad.mit.edu 37 8 22370819 22370819 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:22370819C>T uc003xbs.2 + 6 971 c.644C>T c.(643-645)ACG>ATG p.T215M PPP3CC_uc003xbr.1_Missense_Mutation_p.T215M|PPP3CC_uc011kzi.1_Missense_Mutation_p.T215M|PPP3CC_uc003xbt.2_Missense_Mutation_p.T215M NM_005605 NP_005596 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma 215 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity ovary(1) 1 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) GACAGGTTTACGGAACCTCCC 0.443 RHOBTB2 23221 broad.mit.edu 37 8 22874896 22874896 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:22874896C>T uc003xcq.2 + 10 2635 c.2098C>T c.(2098-2100)CGT>TGT p.R700C RHOBTB2_uc003xcp.2_Missense_Mutation_p.R722C|RHOBTB2_uc011kzp.1_Missense_Mutation_p.R707C|uc003xcr.2_Intron NM_015178 NP_055993 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 isoform 3 700 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding ovary(1)|lung(1) 2 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) GCCCAAACGGCGTTGGCTCTT 0.448 ENTPD4 9583 broad.mit.edu 37 8 23299177 23299177 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:23299177G>A uc003xdl.2 - 8 951 c.787C>T c.(787-789)CGT>TGT p.R263C ENTPD4_uc011kzu.1_Missense_Mutation_p.R263C|ENTPD4_uc003xdm.2_Missense_Mutation_p.R263C|ENTPD4_uc011kzv.1_Missense_Mutation_p.R263C NM_004901 NP_004892 Q9Y227 ENTP4_HUMAN ectonucleoside triphosphate diphosphohydrolase 4 263 Lumenal (Potential). UDP catabolic process autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane uridine-diphosphatase activity ovary(1)|kidney(1) 2 Prostate(55;0.114) Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649) GTCCTTTTACGGACAATGGCT 0.493 NEFL 4747 broad.mit.edu 37 8 24811219 24811219 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:24811219G>A uc003xee.2 - 3 1362 c.1260C>T c.(1258-1260)GGC>GGT p.G420G NM_006158 NP_006149 P07196 NFL_HUMAN neurofilament, light polypeptide 68kDa 420 Tail.|Tail, subdomain A. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AGGCAGATCGGCCAAAGACCT 0.577 NEFL 4747 broad.mit.edu 37 8 24813883 24813883 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:24813883G>T uc003xee.2 - 1 249 c.147C>A c.(145-147)TCC>TCA p.S49S NM_006158 NP_006149 P07196 NFL_HUMAN neurofilament, light polypeptide 68kDa 49 Head. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CGGACAGCGAGGAAGACACCG 0.657 DOCK5 80005 broad.mit.edu 37 8 25253206 25253206 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:25253206G>A uc003xeg.2 + 45 4812 c.4675G>A c.(4675-4677)GTC>ATC p.V1559I PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xei.2_Missense_Mutation_p.V1129I|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1559 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) GGACCCGGCCGTCATGGGGGG 0.582 EBF2 64641 broad.mit.edu 37 8 25747347 25747347 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:25747347G>T uc003xes.1 - 8 689 c.672C>A c.(670-672)GTC>GTA p.V224V PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_5'Flank NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 224 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) AAACAGCCAGGACGTGTCCAT 0.473 TRIM35 23087 broad.mit.edu 37 8 27145436 27145436 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:27145436G>A uc003xfl.1 - 6 1195 c.1113C>T c.(1111-1113)GGC>GGT p.G371G TRIM35_uc010lup.1_3'UTR NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN tripartite motif-containing 35 isoform 2 371 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding 0 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) CACGTACCACGCCCACCCTCC 0.697 TRIM35 23087 broad.mit.edu 37 8 27145561 27145561 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:27145561G>A uc003xfl.1 - 6 1070 c.988C>T c.(988-990)CGC>TGC p.R330C TRIM35_uc010lup.1_3'UTR NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN tripartite motif-containing 35 isoform 2 330 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding 0 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) ACCTGCACGCGGTAGCCATGG 0.657 PTK2B 2185 broad.mit.edu 37 8 27297913 27297913 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:27297913A>G uc003xfn.1 + 26 2802 c.1994A>G c.(1993-1995)GAC>GGC p.D665G PTK2B_uc003xfo.1_Missense_Mutation_p.D665G|PTK2B_uc003xfp.1_Missense_Mutation_p.D665G|PTK2B_uc003xfq.1_Missense_Mutation_p.D665G|PTK2B_uc003xfr.1_Missense_Mutation_p.D411G NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 665 Protein kinase. 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) TGGGACTACGACCCCAGTGAC 0.652 CHRNA2 1135 broad.mit.edu 37 8 27320707 27320707 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:27320707T>A uc010lur.2 - 6 1862 c.1253A>T c.(1252-1254)GAG>GTG p.E418V CHRNA2_uc011lal.1_Missense_Mutation_p.E403V|CHRNA2_uc010lus.2_Missense_Mutation_p.E220V NM_000742 NP_000733 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 418 Cytoplasmic. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(1) 1 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GTCCTCCTCCTCCACCACCAC 0.657 CHRNA2 1135 broad.mit.edu 37 8 27320973 27320973 + Silent SNP G G A rs147530139 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:27320973G>A uc010lur.2 - 6 1596 c.987C>T c.(985-987)GGC>GGT p.G329G CHRNA2_uc011lal.1_Silent_p.G314G|CHRNA2_uc010lus.2_Silent_p.G131G NM_000742 NP_000733 Q15822 ACHA2_HUMAN cholinergic receptor, nicotinic, alpha 329 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(1) 1 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136) Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199) GCAGGTACTCGCCGATGAGCG 0.582 SCARA5 286133 broad.mit.edu 37 8 27737278 27737278 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:27737278C>T uc003xgj.2 - 8 1599 c.1159G>A c.(1159-1161)GTG>ATG p.V387M SCARA5_uc010luz.2_Missense_Mutation_p.V162M NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 387 Extracellular (Potential). cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|skin(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) GGGGCCTCCACGCCACCTGCC 0.657 KIF13B 23303 broad.mit.edu 37 8 29007824 29007824 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:29007824G>T uc003xhh.3 - 15 1671 c.1612C>A c.(1612-1614)CAT>AAT p.H538N KIF13B_uc003xhj.2_Missense_Mutation_p.H435N|KIF13B_uc010lvf.1_Missense_Mutation_p.H474N NM_015254 NP_056069 Q9NQT8 KI13B_HUMAN kinesin family member 13B 538 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding 0 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) CTGAAGAAATGATTGTTTCCC 0.368 TEX15 56154 broad.mit.edu 37 8 30702408 30702408 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:30702408G>A uc003xil.2 - 1 4126 c.4126C>T c.(4126-4128)CAG>TAG p.Q1376* NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1376 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTACAGCTCTGCTCACAGTGT 0.398 TEX15 56154 broad.mit.edu 37 8 30703828 30703828 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:30703828G>T uc003xil.2 - 1 2706 c.2706C>A c.(2704-2706)GAC>GAA p.D902E NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 902 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TATCATTATAGTCAGTTTTTG 0.318 PURG 29942 broad.mit.edu 37 8 30889409 30889409 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:30889409C>T uc003xin.2 - 1 909 c.890G>A c.(889-891)CGT>CAT p.R297H WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Intron NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 297 nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) AATAGTATTACGGTAAGGTGG 0.378 RNF122 79845 broad.mit.edu 37 8 33416236 33416236 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:33416236G>A uc003xjo.1 - 2 481 c.79C>T c.(79-81)CCC>TCC p.P27S NM_024787 NP_079063 Q9H9V4 RN122_HUMAN ring finger protein 122 27 endoplasmic reticulum|Golgi apparatus|integral to membrane zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116) AAACTGATGGGTGGCATCGAG 0.463 ADRB3 155 broad.mit.edu 37 8 37823915 37823915 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:37823915C>T uc003xkr.1 - 1 270 c.73G>A c.(73-75)GCC>ACC p.A25T NM_000025 NP_000016 P13945 ADRB3_HUMAN adrenergic, beta-3-, receptor 25 Extracellular (By similarity). carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade integral to plasma membrane|receptor complex beta3-adrenergic receptor activity|protein homodimerization activity lung(2) 2 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571) CTGGTGTTGGCGGTATTGGGC 0.726 BAG4 9530 broad.mit.edu 37 8 38065194 38065194 + Silent SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:38065194T>G uc003xky.1 + 3 825 c.543T>G c.(541-543)ACT>ACG p.T181T BAG4_uc003xkz.1_Silent_p.T145T NM_004874 NP_004865 O95429 BAG4_HUMAN BCL2-associated athanogene 4 181 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity ovary(1) 1 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) ACAGCCCAACTCCAGTCTCTC 0.517 FGFR1 2260 broad.mit.edu 37 8 38272116 38272116 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:38272116T>C uc003xlp.2 - 16 2951 c.2009A>G c.(2008-2010)GAG>GGG p.E670G FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.E668G|FGFR1_uc011lbp.1_Missense_Mutation_p.E581G|FGFR1_uc011lbq.1_Missense_Mutation_p.E579G|FGFR1_uc010lwk.2_Missense_Mutation_p.E660G NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 670 Cytoplasmic (Potential).|Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) AAATAATGCCTCGGGTGCCAT 0.567 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome ANK1 286 broad.mit.edu 37 8 41542084 41542084 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:41542084C>T uc003xok.2 - 37 4599 c.4515G>A c.(4513-4515)TCG>TCA p.S1505S NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.S821S|ANK1_uc003xoi.2_Silent_p.S1505S|ANK1_uc003xoj.2_Silent_p.S1505S|ANK1_uc003xol.2_Silent_p.S1505S|ANK1_uc003xom.2_Silent_p.S1546S NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1505 55 kDa regulatory domain. 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) AGGGTGACAGCGAGTAGTCGC 0.612 MYST3 7994 broad.mit.edu 37 8 41791371 41791371 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:41791371A>G uc010lxb.2 - 18 4911 c.4367T>C c.(4366-4368)CTG>CCG p.L1456P MYST3_uc010lxc.2_Missense_Mutation_p.L1456P|MYST3_uc003xon.3_Missense_Mutation_p.L1456P NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1456 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) GTAACTCTGCAGGGTCTGACA 0.527 MYST3 7994 broad.mit.edu 37 8 41798364 41798364 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:41798364C>T uc010lxb.2 - 16 3579 c.3035G>A c.(3034-3036)CGA>CAA p.R1012Q MYST3_uc010lxc.2_Missense_Mutation_p.R1012Q|MYST3_uc003xon.3_Missense_Mutation_p.R1012Q NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1012 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) CGTTACCTTTCGCTTCAGCGT 0.498 CHRNA6 8973 broad.mit.edu 37 8 42611206 42611206 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:42611206G>A uc003xpj.2 - 5 1182 c.1136C>T c.(1135-1137)GCC>GTC p.A379V CHRNA6_uc011lcw.1_Missense_Mutation_p.A364V NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 379 Cytoplasmic. 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) CTTGCCTTTGGCAGGCCTCCT 0.537 PXDNL 137902 broad.mit.edu 37 8 52322022 52322022 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:52322022C>T uc003xqu.3 - 17 2263 c.2162G>A c.(2161-2163)CGG>CAG p.R721Q PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 721 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) ATGGAAACACCGGTTGGAGCA 0.637 PCMTD1 115294 broad.mit.edu 37 8 52744035 52744035 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:52744035A>G uc003xqx.3 - 5 1016 c.675T>C c.(673-675)AAT>AAC p.N225N PCMTD1_uc011ldm.1_Silent_p.N95N|PCMTD1_uc003xqw.3_Silent_p.N225N|PCMTD1_uc011ldn.1_Silent_p.N37N|PCMTD1_uc010lya.2_Silent_p.N149N NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 225 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) TGCCATTATCATTCTTACTTG 0.368 OPRK1 4986 broad.mit.edu 37 8 54163444 54163444 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:54163444C>G uc003xrh.1 - 1 529 c.154G>C c.(154-156)GCG>CCG p.A52P OPRK1_uc003xri.1_Missense_Mutation_p.A52P|OPRK1_uc010lyc.1_5'UTR NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 52 Extracellular (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GAGATGTGCGCGGGCTCCAGC 0.682 ATP6V1H 51606 broad.mit.edu 37 8 54708293 54708293 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:54708293G>A uc003xrl.2 - 9 936 c.784C>T c.(784-786)CGC>TGC p.R262C ATP6V1H_uc003xrk.2_Missense_Mutation_p.R222C|ATP6V1H_uc003xrm.2_Missense_Mutation_p.R262C|ATP6V1H_uc003xrn.2_Missense_Mutation_p.R244C|ATP6V1H_uc011ldv.1_Missense_Mutation_p.R182C|ATP6V1H_uc010lyd.2_Missense_Mutation_p.R198C NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 262 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) ATATTATAGCGCCGCAGGTGT 0.408 LYPLA1 10434 broad.mit.edu 37 8 54978307 54978307 + Splice_Site SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:54978307C>T uc003xry.2 - 3 361 c.167_splice c.e3+1 p.A56_splice LYPLA1_uc011ldx.1_Splice_Site_p.A51_splice|LYPLA1_uc003xrz.2_Splice_Site_p.A51_splice NM_006330 NP_006321 O75608 LYPA1_HUMAN lysophospholipase 1 fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytosol lysophospholipase activity|palmitoyl-(protein) hydrolase activity central_nervous_system(1) 1 Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689) GAAATACTCACGCATGCGGGC 0.398 RP1 6101 broad.mit.edu 37 8 55533673 55533673 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:55533673C>T uc003xsd.1 + 2 295 c.147C>T c.(145-147)GGC>GGT p.G49G RP1_uc011ldy.1_Silent_p.G49G NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 49 Doublecortin 1. 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) CCCAATTCGGCGGGGTCAGGG 0.547 RP1 6101 broad.mit.edu 37 8 55541306 55541306 + Nonsense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:55541306G>T uc003xsd.1 + 4 5012 c.4864G>T c.(4864-4866)GAA>TAA p.E1622* RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1622 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) CCAAGAGAAAGAATATAACAT 0.403 PENK 5179 broad.mit.edu 37 8 57354427 57354427 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:57354427G>A uc003xsz.2 - 2 289 c.208C>T c.(208-210)CAG>TAG p.Q70* PENK_uc003xta.3_Nonsense_Mutation_p.Q70* NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 70 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) TTGGACAGCTGCAGGAGCTCC 0.453 PENK 5179 broad.mit.edu 37 8 57358454 57358454 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:57358454G>A uc003xsz.2 - 1 140 c.59C>T c.(58-60)GCG>GTG p.A20V uc003xtb.1_RNA|PENK_uc003xta.3_Missense_Mutation_p.A20V|PENK_uc010lym.2_Missense_Mutation_p.A20V NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 20 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CCGCACGGTCGCCAGGAGCCC 0.677 ASPH 444 broad.mit.edu 37 8 62465665 62465665 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:62465665G>A uc003xuj.2 - 20 1820 c.1551C>T c.(1549-1551)TCC>TCT p.S517S ASPH_uc011leg.1_Silent_p.S488S NM_004318 NP_004309 Q12797 ASPH_HUMAN aspartate beta-hydroxylase isoform a 517 TPR 3.|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) CAGGATCTCCGGATTCTATTC 0.388 TRIM55 84675 broad.mit.edu 37 8 67064625 67064625 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:67064625A>T uc003xvv.2 + 8 1225 c.999A>T c.(997-999)GAA>GAT p.E333D TRIM55_uc003xvu.2_Missense_Mutation_p.E333D|TRIM55_uc003xvw.2_Missense_Mutation_p.E333D|TRIM55_uc003xvx.2_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 333 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) atgaagatgaagaagaagaag 0.199 VCPIP1 80124 broad.mit.edu 37 8 67547317 67547317 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:67547317G>C uc003xwn.2 - 3 3347 c.3088C>G c.(3088-3090)CAT>GAT p.H1030D NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 1030 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) CCTAAAGAATGCCCTTTTCCC 0.413 ARFGEF1 10565 broad.mit.edu 37 8 68179131 68179131 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:68179131G>T uc003xxo.1 - 13 2291 c.1901C>A c.(1900-1902)CCC>CAC p.P634H ARFGEF1_uc003xxl.1_Missense_Mutation_p.P88H NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 634 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) CTGGGAGTTGGGATTCACATA 0.363 ARFGEF1 10565 broad.mit.edu 37 8 68213459 68213459 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:68213459C>A uc003xxo.1 - 3 702 c.312G>T c.(310-312)CAG>CAT p.Q104H NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 104 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) TTAGACATACCTGTAAGCAAT 0.353 CPA6 57094 broad.mit.edu 37 8 68396943 68396943 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:68396943C>T uc003xxq.3 - 7 974 c.718G>A c.(718-720)GTC>ATC p.V240I CPA6_uc003xxr.3_Missense_Mutation_p.V92I|CPA6_uc003xxs.2_Missense_Mutation_p.V240I NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 240 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TATCCATCGACGTTAAACACA 0.363 CPA6 57094 broad.mit.edu 37 8 68421815 68421815 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:68421815T>C uc003xxq.3 - 5 727 c.471A>G c.(469-471)TCA>TCG p.S157S CPA6_uc003xxr.3_Silent_p.S9S|CPA6_uc003xxs.2_Silent_p.S157S NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 157 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) GAATGAGGCCTGAGTGAGTTT 0.303 EYA1 2138 broad.mit.edu 37 8 72211324 72211324 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:72211324G>A uc003xys.3 - 8 1071 c.784C>T c.(784-786)CCA>TCA p.P262S EYA1_uc003xyr.3_Missense_Mutation_p.P257S|EYA1_uc003xyt.3_Missense_Mutation_p.P229S|EYA1_uc010lzf.2_Missense_Mutation_p.P189S|EYA1_uc003xyu.2_Missense_Mutation_p.P262S|EYA1_uc011lfe.1_Missense_Mutation_p.P256S|EYA1_uc003xyv.2_Missense_Mutation_p.P140S NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 262 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) ATGCCAGATGGCGGTTCTTGA 0.448 PI15 51050 broad.mit.edu 37 8 75737735 75737735 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:75737735C>T uc003yal.2 + 2 430 c.251C>T c.(250-252)CCG>CTG p.P84L uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.P84L NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 84 extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) GTGTTCCCACCGGCAGCAAAT 0.398 ZFHX4 79776 broad.mit.edu 37 8 77766976 77766976 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:77766976C>T uc003yav.2 + 10 8071 c.7684C>T c.(7684-7686)CGC>TGC p.R2562C ZFHX4_uc003yau.1_Missense_Mutation_p.R2607C|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2562C NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2562 Homeobox 3. 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) CCGAGATAAACGCTTGAGAAC 0.423 HNSCC(33;0.089) PEX2 5828 broad.mit.edu 37 8 77895611 77895611 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:77895611A>G uc003yax.2 - 4 1262 c.804T>C c.(802-804)GCT>GCC p.A268A PEX2_uc003yay.2_Silent_p.A268A|PEX2_uc003yaz.2_Silent_p.A268A NM_000318 NP_000309 P28328 PEX2_HUMAN peroxin 2 268 RING-type. peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding ovary(1) 1 AACTACTCTTAGCACAGAAAT 0.443 FAM164A 51101 broad.mit.edu 37 8 79609706 79609706 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:79609706T>C uc003ybd.2 + 6 671 c.569T>C c.(568-570)TTA>TCA p.L190S NM_016010 NP_057094 Q96GY0 F164A_HUMAN hypothetical protein LOC51101 190 ovary(1) 1 TCTTCACGATTACCGCAGCCA 0.388 FAM164A 51101 broad.mit.edu 37 8 79629706 79629706 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:79629706G>A uc003ybd.2 + 9 1058 c.956G>A c.(955-957)GGC>GAC p.G319D NM_016010 NP_057094 Q96GY0 F164A_HUMAN hypothetical protein LOC51101 319 ovary(1) 1 TGTGAATGTGGCATTCGAAGA 0.383 HEY1 23462 broad.mit.edu 37 8 80677870 80677870 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:80677870C>T uc003ybm.2 - 5 668 c.468G>A c.(466-468)TCG>TCA p.S156S HEY1_uc010lzq.2_Silent_p.S37S|HEY1_uc003ybl.2_Silent_p.S160S NM_012258 NP_036390 Q9Y5J3 HEY1_HUMAN hairy/enhancer-of-split related with YRPW motif 156 Orange. angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding lung(3) 3 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) TGTTGAGATGCGAAACCAGTC 0.597 OREG0018837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HEY1 23462 broad.mit.edu 37 8 80677994 80677994 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:80677994G>A uc003ybm.2 - 5 544 c.344C>T c.(343-345)GCG>GTG p.A115V HEY1_uc010lzq.2_5'UTR|HEY1_uc003ybl.2_Missense_Mutation_p.A119V NM_012258 NP_036390 Q9Y5J3 HEY1_HUMAN hairy/enhancer-of-split related with YRPW motif 115 Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity). angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent nucleus DNA binding|protein binding lung(3) 3 all_lung(9;5.1e-05) Epithelial(68;0.076)|all cancers(69;0.179) AAGGGCGTGCGCGTCAAAGTA 0.488 OREG0018837 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZNF704 619279 broad.mit.edu 37 8 81605280 81605280 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:81605280G>A uc003yby.1 - 3 516 c.284C>T c.(283-285)TCG>TTG p.S95L NM_001033723 NP_001028895 Q6ZNC4 ZN704_HUMAN zinc finger protein 704 95 intracellular zinc ion binding 0 all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06) BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277) AGGGCTAGTCGACAAGCTGGT 0.507 FABP9 646480 broad.mit.edu 37 8 82373717 82373717 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:82373717A>G uc011lfo.1 - 1 42 c.42T>C c.(40-42)AGT>AGC p.S14S NM_001080526 NP_001073995 Q0Z7S8 FABP9_HUMAN fatty acid binding protein 9, testis 14 lipid binding|transporter activity 0 Epithelial(68;0.186) CAAAGTTTTCACTGGAGACCA 0.398 CA13 377677 broad.mit.edu 37 8 86171714 86171714 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:86171714C>T uc003ydg.2 + 3 642 c.300C>T c.(298-300)TCC>TCT p.S100S CA13_uc003ydf.1_RNA NM_198584 NP_940986 Q8N1Q1 CAH13_HUMAN carbonic anhydrase XIII 100 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding 0 ACTGGGGGTCCGCTGATGACC 0.483 CNBD1 168975 broad.mit.edu 37 8 88296993 88296993 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:88296993G>A uc003ydy.2 + 7 907 c.859G>A c.(859-861)GAT>AAT p.D287N NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 287 ovary(3) 3 GACAGAAGACGATTGTGAAAT 0.363 MMP16 4325 broad.mit.edu 37 8 89068388 89068388 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:89068388G>A uc003yeb.3 - 8 1623 c.1341C>T c.(1339-1341)GAC>GAT p.D447D NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 447 Extracellular (Potential).|Hemopexin-like 3. collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 TTTTCCCGACGTCCTCCCACC 0.413 CALB1 793 broad.mit.edu 37 8 91095086 91095086 + Translation_Start_Site SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:91095086G>A uc003yel.1 - 1 22 c.-160C>T c.(-162--158)AACGC>AATGC CALB1_uc003yem.1_Intron NM_004929 NP_004920 P05937 CALB1_HUMAN calbindin 1 nucleus calcium ion binding|vitamin D binding pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.00953) TCAGCTCAGCGTTCCTCCAGA 0.667 OTUD6B 51633 broad.mit.edu 37 8 92090768 92090768 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:92090768T>G uc003yeu.3 + 4 689 c.590T>G c.(589-591)CTG>CGG p.L197R OTUD6B_uc011lgh.1_Missense_Mutation_p.L66R NM_016023 NP_057107 Q8N6M0 OTU6B_HUMAN OTU domain containing 6B 167 OTU. ovary(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(11;0.0187) GAAGATCAACTGAAAGAAAAG 0.398 RUNX1T1 862 broad.mit.edu 37 8 92998502 92998502 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:92998502C>T uc003yfd.2 - 8 1213 c.1129G>A c.(1129-1131)GTA>ATA p.V377I RUNX1T1_uc003yfc.1_Missense_Mutation_p.V350I|RUNX1T1_uc003yfe.1_Missense_Mutation_p.V340I|RUNX1T1_uc010mao.2_Missense_Mutation_p.V350I|RUNX1T1_uc011lgi.1_Missense_Mutation_p.V388I|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.V340I NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 377 Important for oligomerization. generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) CGCCTTAGTACGGTGAGAGAT 0.458 RBM12B 389677 broad.mit.edu 37 8 94746311 94746311 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:94746311C>T uc003yfz.2 - 3 2521 c.2328G>A c.(2326-2328)CCG>CCA p.P776P NM_203390 NP_976324 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 776 nucleotide binding|RNA binding 0 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) GGAAGTGCTCCGGGGGCGGGC 0.662 INTS8 55656 broad.mit.edu 37 8 95892358 95892358 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:95892358G>A uc003yhb.2 + 27 3010 c.2884G>A c.(2884-2886)GGC>AGC p.G962S INTS8_uc011lgq.1_RNA|INTS8_uc011lgr.1_RNA|INTS8_uc010mba.2_Missense_Mutation_p.G772S NM_017864 NP_060334 Q75QN2 INT8_HUMAN integrator complex subunit 8 962 snRNA processing integrator complex protein binding 0 Breast(36;1.05e-06) CAAAGCCATCGGCCAGACAGA 0.383 STK3 6788 broad.mit.edu 37 8 99560281 99560281 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:99560281G>T uc003yip.2 - 9 1198 c.1057C>A c.(1057-1059)CAT>AAT p.H353N STK3_uc003yio.2_Missense_Mutation_p.H381N|STK3_uc010mbm.1_Missense_Mutation_p.H242N NM_006281 NP_006272 Q13188 STK3_HUMAN serine/threonine kinase 3 353 apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity lung(3)|ovary(1) 4 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) GTGCTATTATGTTCAATCATG 0.483 FBXO43 286151 broad.mit.edu 37 8 101146188 101146188 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:101146188G>T uc003yjd.2 - 5 2682 c.1969C>A c.(1969-1971)CTG>ATG p.L657M FBXO43_uc003yje.2_Missense_Mutation_p.L623M NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 657 IBR-type. meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) CGGCTACACAGTCCCCTTTTC 0.448 PABPC1 26986 broad.mit.edu 37 8 101730087 101730087 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:101730087G>A uc003yjs.1 - 3 921 c.417C>T c.(415-417)GGC>GGT p.G139G PABPC1_uc011lhc.1_Silent_p.G107G|PABPC1_uc011lhd.1_Silent_p.G94G|PABPC1_uc003yjt.1_Silent_p.G139G|PABPC1_uc003yju.2_RNA NM_002568 NP_002559 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 139 RRM 2. mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity 0 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) CAAATCCATAGCCCTTGGAAC 0.348 SLC25A32 81034 broad.mit.edu 37 8 104413839 104413839 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:104413839G>A uc003yll.2 - 6 1020 c.717C>T c.(715-717)GTC>GTT p.V239V SLC25A32_uc011lhr.1_Silent_p.V107V NM_030780 NP_110407 Q9H2D1 MFTC_HUMAN solute carrier family 25, member 32 239 Solcar 3.|Helical; Name=5; (Potential). folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) ATGTTGCTGCGACAGCAAATA 0.363 RIMS2 9699 broad.mit.edu 37 8 104987622 104987622 + Missense_Mutation SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:104987622G>C uc003yls.2 + 14 2390 c.2149G>C c.(2149-2151)GTG>CTG p.V717L RIMS2_uc003ylp.2_Missense_Mutation_p.V939L|RIMS2_uc003ylw.2_Missense_Mutation_p.V731L|RIMS2_uc003ylq.2_Missense_Mutation_p.V731L|RIMS2_uc003ylr.2_Missense_Mutation_p.V778L|RIMS2_uc003ylt.2_Missense_Mutation_p.V324L NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1001 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) AACATTATCAGTGCCAGAACA 0.388 HNSCC(12;0.0054) TM7SF4 81501 broad.mit.edu 37 8 105361777 105361777 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:105361777G>T uc003ylx.1 + 2 1046 c.997G>T c.(997-999)GGG>TGG p.G333W NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 333 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) AAGCTTGCCAGGGTTTGAGGT 0.373 ANGPT1 284 broad.mit.edu 37 8 108306229 108306229 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:108306229T>C uc003ymn.2 - 6 1441 c.973A>G c.(973-975)ACT>GCT p.T325A ANGPT1_uc011lhv.1_Missense_Mutation_p.T125A|ANGPT1_uc003ymo.2_Missense_Mutation_p.T324A|ANGPT1_uc003ymp.3_Missense_Mutation_p.T124A NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 325 Fibrinogen C-terminal. 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) TGTATTACAGTCCAACCTCCC 0.343 PKHD1L1 93035 broad.mit.edu 37 8 110477304 110477304 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:110477304G>A uc003yne.2 + 49 8347 c.8243G>A c.(8242-8244)CGT>CAT p.R2748H NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2748 Extracellular (Potential).|PbH1 4. 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) AACTTTGACCGTCCCAACTGT 0.473 HNSCC(38;0.096) SYBU 55638 broad.mit.edu 37 8 110590246 110590246 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:110590246C>A uc003ynj.3 - 6 898 c.735G>T c.(733-735)AGG>AGT p.R245S SYBU_uc003yni.3_Missense_Mutation_p.R242S|SYBU_uc003ynk.3_Missense_Mutation_p.R126S|SYBU_uc010mco.2_Missense_Mutation_p.R244S|SYBU_uc003ynl.3_Missense_Mutation_p.R244S|SYBU_uc010mcp.2_Missense_Mutation_p.R245S|SYBU_uc010mcq.2_Missense_Mutation_p.R245S|SYBU_uc003yno.3_Missense_Mutation_p.R126S|SYBU_uc010mcr.2_Missense_Mutation_p.R245S|SYBU_uc003ynm.3_Missense_Mutation_p.R244S|SYBU_uc003ynn.3_Missense_Mutation_p.R244S|SYBU_uc010mcs.2_Missense_Mutation_p.R126S|SYBU_uc010mct.2_Missense_Mutation_p.R245S|SYBU_uc010mcu.2_Missense_Mutation_p.R244S|SYBU_uc003ynp.3_Missense_Mutation_p.R177S|SYBU_uc010mcv.2_Missense_Mutation_p.R245S|SYBU_uc003ynh.3_Missense_Mutation_p.R39S|SYBU_uc011lhw.1_Missense_Mutation_p.R115S NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 245 Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 TTCCAGAACGCCTGAAACAAT 0.368 TRPS1 7227 broad.mit.edu 37 8 116599270 116599270 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:116599270C>T uc003ynz.2 - 4 3078 c.2619G>A c.(2617-2619)TCG>TCA p.S873S TRPS1_uc011lhy.1_Silent_p.S877S|TRPS1_uc003yny.2_Silent_p.S886S|TRPS1_uc010mcy.2_Silent_p.S873S NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 873 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) TGTTTTCTCCCGATGCAGGAT 0.507 Langer-Giedion_syndrome ZHX2 22882 broad.mit.edu 37 8 123964842 123964842 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:123964842G>A uc003ypk.1 + 3 1659 c.1092G>A c.(1090-1092)ACG>ACA p.T364T NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 364 Required for interaction with NFYA.|Required for repressor activity.|Required for nuclear localization. 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) TCCTCCAGACGGCTCTACCGT 0.617 ATAD2 29028 broad.mit.edu 37 8 124371574 124371574 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:124371574T>C uc003yqh.3 - 11 1377 c.1269A>G c.(1267-1269)GTA>GTG p.V423V ATAD2_uc011lii.1_Silent_p.V214V|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Silent_p.V423V NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) TATCAAATCGTACCTGGTAAT 0.348 FAM91A1 157769 broad.mit.edu 37 8 124799557 124799557 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:124799557G>A uc003yqv.2 + 13 1196 c.1135G>A c.(1135-1137)GCA>ACA p.A379T FAM91A1_uc011lik.1_Missense_Mutation_p.A379T|FAM91A1_uc011lil.1_Missense_Mutation_p.A137T NM_144963 NP_659400 Q658Y4 F91A1_HUMAN hypothetical protein LOC157769 379 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) GAAGCGCATCGCATTCCTGTT 0.378 FER1L6 654463 broad.mit.edu 37 8 125078740 125078740 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:125078740C>T uc003yqw.2 + 27 3833 c.3627C>T c.(3625-3627)AAC>AAT p.N1209N uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1209 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) CTGCTGAAAACGTGATTGACT 0.483 MTSS1 9788 broad.mit.edu 37 8 125565518 125565518 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:125565518G>T uc003yrk.2 - 14 2517 c.1983C>A c.(1981-1983)CCC>CCA p.P661P NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Silent_p.P310P|MTSS1_uc011lin.1_Silent_p.P435P|MTSS1_uc011lio.1_Silent_p.P551P|MTSS1_uc003yri.2_Silent_p.P379P|MTSS1_uc003yrj.2_Silent_p.P636P|MTSS1_uc003yrl.2_Silent_p.P665P NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 661 Pro-rich. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ACATTGAGGAGGGCATGCTGG 0.622 KIAA0196 9897 broad.mit.edu 37 8 126088707 126088707 + Silent SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:126088707T>G uc003yrt.2 - 7 1076 c.747A>C c.(745-747)ACA>ACC p.T249T KIAA0196_uc011lir.1_Silent_p.T101T NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 249 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TTGCCAGGGCTGTGCTGCGAT 0.488 GSDMC 56169 broad.mit.edu 37 8 130789698 130789698 + Missense_Mutation SNP G G A rs140640562 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:130789698G>A uc003ysr.2 - 2 1018 c.136C>T c.(136-138)CGT>TGT p.R46C NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN melanoma-derived leucine zipper, extra-nuclear 46 mitochondrion ovary(2)|skin(1) 3 AATGATGAACGAGAATCCTTC 0.418 KCNQ3 3786 broad.mit.edu 37 8 133492426 133492426 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:133492426C>T uc003ytj.2 - 1 579 c.354G>A c.(352-354)CCG>CCA p.P118P KCNQ3_uc010mdt.2_Silent_p.P118P NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 118 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CCCAGCCCCGCGGTCTCTCCA 0.522 LRRC6 23639 broad.mit.edu 37 8 133623587 133623587 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:133623587C>T uc003ytk.2 - 9 1071 c.997G>A c.(997-999)GAT>AAT p.D333N LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 333 CS. cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ACATCAACATCGATTAAAGAG 0.299 SLA 6503 broad.mit.edu 37 8 134072364 134072364 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:134072364C>T uc003ytz.2 - 3 874 c.42G>A c.(40-42)AGG>AGA p.R14R TG_uc003ytw.2_Intron|TG_uc010mdw.2_Intron|TG_uc011ljb.1_Intron|TG_uc011ljc.1_Intron|SLA_uc011lje.1_Silent_p.R31R|SLA_uc011ljf.1_Intron|SLA_uc011ljg.1_Silent_p.R31R|SLA_uc010mdy.1_Silent_p.R14R|SLA_uc010mdz.1_Silent_p.R14R|SLA_uc010mea.2_RNA|SLA_uc011ljd.1_Silent_p.R54R NM_001045556 NP_001039021 Q13239 SLAP1_HUMAN Src-like-adaptor isoform a 14 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) TGGGCAGGGGCCTCTCGGCAG 0.582 NDRG1 10397 broad.mit.edu 37 8 134256618 134256618 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:134256618C>T uc003yuh.2 - 14 1457 c.871G>A c.(871-873)GGC>AGC p.G291S NDRG1_uc003yue.1_Missense_Mutation_p.G6S|NDRG1_uc003yuf.1_Missense_Mutation_p.G102S|NDRG1_uc003yug.2_Missense_Mutation_p.G291S|NDRG1_uc010mee.2_Missense_Mutation_p.G210S|NDRG1_uc010mef.2_Missense_Mutation_p.G225S|NDRG1_uc011ljh.1_Missense_Mutation_p.G119S|NDRG1_uc011lji.1_Missense_Mutation_p.G38S|NDRG1_uc003yui.1_5'Flank NM_001135242 NP_001128714 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 291 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding ovary(4) 4 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) TGCGGGAGGCCGCCACAGTCC 0.557 ZFAT 57623 broad.mit.edu 37 8 135614640 135614640 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:135614640G>A uc003yup.2 - 6 1497 c.1322C>T c.(1321-1323)GCC>GTC p.A441V ZFAT_uc003yun.2_Missense_Mutation_p.A429V|ZFAT_uc003yuo.2_Missense_Mutation_p.A429V|ZFAT_uc010meh.2_Missense_Mutation_p.A429V|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.A429V|ZFAT_uc010mej.2_Missense_Mutation_p.A379V|ZFAT_uc003yur.2_Missense_Mutation_p.A429V NM_020863 NP_065914 Q9P243 ZFAT_HUMAN zinc finger protein 406 isoform ZFAT-1 441 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GTACTTGGTGGCCCCATGGCC 0.592 FAM135B 51059 broad.mit.edu 37 8 139155273 139155273 + Missense_Mutation SNP A A T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:139155273A>T uc003yuy.2 - 16 3791 c.3620T>A c.(3619-3621)CTC>CAC p.L1207H FAM135B_uc003yux.2_Missense_Mutation_p.L1108H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.L769H|FAM135B_uc003yvb.2_3'UTR NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1207 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) GGATATGGAGAGGTTGTACAA 0.398 HNSCC(54;0.14) KCNK9 51305 broad.mit.edu 37 8 140630972 140630972 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:140630972C>T uc003yvf.1 - 2 718 c.654G>A c.(652-654)CCG>CCA p.P218P KCNK9_uc003yvg.1_Silent_p.P218P|KCNK9_uc003yve.1_RNA NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN potassium channel, subfamily K, member 9 218 Extracellular (Potential). integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity ovary(2)|lung(1) 3 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CCACGTAGAGCGGCTTCTTCT 0.557 TRAPPC9 83696 broad.mit.edu 37 8 141297705 141297705 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:141297705A>G uc003yvj.2 - 13 2115 c.1981_splice c.e13+1 p.G661_splice TRAPPC9_uc003yvh.2_Splice_Site_p.G759_splice|TRAPPC9_uc010mel.1_Splice_Site_p.G82_splice|TRAPPC9_uc003yvi.1_Splice_Site_p.G652_splice NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 GACTCTCCTTACCGTTCACAG 0.592 PTK2 5747 broad.mit.edu 37 8 141678425 141678425 + Silent SNP G G A rs141828978 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:141678425G>A uc003yvu.2 - 30 3038 c.2808C>T c.(2806-2808)ATC>ATT p.I936I PTK2_uc011ljp.1_Silent_p.I244I|PTK2_uc003yvo.2_Silent_p.I564I|PTK2_uc011ljq.1_Silent_p.I634I|PTK2_uc003yvp.2_Silent_p.I604I|PTK2_uc003yvq.2_Silent_p.I441I|PTK2_uc003yvr.2_Silent_p.I879I|PTK2_uc003yvs.2_Silent_p.I890I|PTK2_uc003yvt.2_Silent_p.I958I|PTK2_uc003yvv.2_Silent_p.I839I|PTK2_uc011ljr.1_Silent_p.I949I NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 936 Interaction with TGFB1I1.|Interaction with RGNEF (By similarity). 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) TGGACATCTCGATGACAGCTT 0.498 OREG0019022 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) PTK2 5747 broad.mit.edu 37 8 141727703 141727703 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:141727703C>T uc003yvu.2 - 23 2366 c.2136G>A c.(2134-2136)CCG>CCA p.P712P PTK2_uc011ljp.1_Silent_p.P20P|PTK2_uc003yvo.2_Silent_p.P340P|PTK2_uc011ljq.1_Silent_p.P407P|PTK2_uc003yvp.2_Silent_p.P380P|PTK2_uc003yvq.2_Silent_p.P238P|PTK2_uc003yvr.2_Silent_p.P652P|PTK2_uc003yvs.2_Silent_p.P712P|PTK2_uc003yvt.2_Silent_p.P734P|PTK2_uc003yvv.2_Silent_p.P612P|PTK2_uc011ljr.1_Silent_p.P712P NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 712 Pro-rich.|Interaction with TGFB1I1. 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) CTACCTTGGGCGGTGCTTCAT 0.507 ZC3H3 23144 broad.mit.edu 37 8 144589967 144589967 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:144589967G>T uc003yyd.2 - 4 1693 c.1664C>A c.(1663-1665)CCC>CAC p.P555H NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 555 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CAGGGGGAAGGGCGGGGCGCT 0.667 SCRIB 23513 broad.mit.edu 37 8 144874388 144874388 + Splice_Site SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:144874388A>G uc003yzp.1 - 32 4521 c.4514_splice c.e32+1 p.R1505_splice SCRIB_uc003yzn.1_Splice_Site_p.R238_splice|SCRIB_uc003yzo.1_Splice_Site_p.R1505_splice NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ACAGGGGCTCACCTGGCTGCC 0.701 SCRIB 23513 broad.mit.edu 37 8 144877247 144877247 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:144877247G>A uc003yzp.1 - 27 3814 c.3807C>T c.(3805-3807)CGC>CGT p.R1269R SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Silent_p.R1269R NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 1269 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CGGCCAGGGCGCGGTAGTCCA 0.697 SCRIB 23513 broad.mit.edu 37 8 144886086 144886086 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:144886086G>A uc003yzp.1 - 23 3152 c.3145C>T c.(3145-3147)CGC>TGC p.R1049C SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.R1049C NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 1049 Interaction with ARHGEF7.|PDZ 3. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGGCCGCTGCGAGCGGCCAGG 0.706 PUF60 22827 broad.mit.edu 37 8 144898887 144898887 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:144898887G>T uc003yzs.2 - 12 1547 c.1483C>A c.(1483-1485)CGC>AGC p.R495S SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzr.2_Missense_Mutation_p.R435S|PUF60_uc003yzt.2_Missense_Mutation_p.R478S|PUF60_uc003yzq.2_Missense_Mutation_p.R452S NM_078480 NP_510965 Q9UHX1 PUF60_HUMAN poly-U binding splicing factor 60KDa isoform a 495 RRM 3; atypical.|Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction. apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nucleus|ribonucleoprotein complex DNA binding|nucleotide binding|protein binding|RNA binding 0 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ATGATGACGCGGTTCACGGCC 0.517 EPPK1 83481 broad.mit.edu 37 8 144942560 144942560 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:144942560C>T uc003zaa.1 - 1 4875 c.4862G>A c.(4861-4863)CGG>CAG p.R1621Q NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1621 Plectin 27. cytoplasm|cytoskeleton protein binding|structural molecule activity p.R1621W(1) 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) GGTCAGCTTCCGGTTCTCCAC 0.642 PLEC 5339 broad.mit.edu 37 8 144990983 144990983 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:144990983C>T uc003zaf.1 - 32 13587 c.13417G>A c.(13417-13419)GTC>ATC p.V4473I PLEC_uc003zab.1_Missense_Mutation_p.V4336I|PLEC_uc003zac.1_Missense_Mutation_p.V4340I|PLEC_uc003zad.2_Missense_Mutation_p.V4336I|PLEC_uc003zae.1_Missense_Mutation_p.V4304I|PLEC_uc003zag.1_Missense_Mutation_p.V4314I|PLEC_uc003zah.2_Missense_Mutation_p.V4322I|PLEC_uc003zaj.2_Missense_Mutation_p.V4363I NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4473 Globular 2.|Plectin 30. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCCTTGTTGACGGCGTCGGTG 0.647 PLEC 5339 broad.mit.edu 37 8 145006333 145006333 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:145006333G>A uc003zaf.1 - 17 2628 c.2458C>T c.(2458-2460)CTG>TTG p.L820L PLEC_uc003zab.1_Silent_p.L683L|PLEC_uc003zac.1_Silent_p.L687L|PLEC_uc003zad.2_Silent_p.L683L|PLEC_uc003zae.1_Silent_p.L651L|PLEC_uc003zag.1_Silent_p.L661L|PLEC_uc003zah.2_Silent_p.L669L|PLEC_uc003zaj.2_Silent_p.L710L NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 820 Spectrin 2.|Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TCCTCCCGCAGCAGCCGGTCC 0.507 PARP10 84875 broad.mit.edu 37 8 145057410 145057410 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:145057410G>A uc003zal.3 - 8 2455 c.2347C>T c.(2347-2349)CGC>TGC p.R783C PARP10_uc003zak.3_Missense_Mutation_p.R480C|PARP10_uc011lku.1_Missense_Mutation_p.R795C|PARP10_uc011lkv.1_Intron|PARP10_uc003zam.2_Missense_Mutation_p.R774C NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 783 Myc binding. Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCAAGTGGCGGGCAGCACGG 0.657 EXOSC4 54512 broad.mit.edu 37 8 145135191 145135191 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:145135191C>T uc003zau.2 + 3 535 c.425C>T c.(424-426)GCC>GTC p.A142V GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank NM_019037 NP_061910 Q9NPD3 EXOS4_HUMAN exosome component 4 142 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTGAATGCAGCCACGCTGGCA 0.602 HEATR7A 727957 broad.mit.edu 37 8 145245797 145245797 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:145245797G>A uc003zbk.3 + 8 910 c.673G>A c.(673-675)GAT>AAT p.D225N HEATR7A_uc003zbg.2_Missense_Mutation_p.D225N|HEATR7A_uc003zbh.3_Missense_Mutation_p.D225N|HEATR7A_uc003zbi.3_Missense_Mutation_p.D225N|HEATR7A_uc011lla.1_Missense_Mutation_p.D225N|HEATR7A_uc010mft.2_Missense_Mutation_p.D225N NM_032450 NP_115826 Q8NDA8 HTR7A_HUMAN HEAT repeat containing 7A isoform 1 225 binding 0 CAGCGCCTACGATGTTCTCTT 0.612 ADCK5 203054 broad.mit.edu 37 8 145616432 145616432 + Silent SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:145616432G>T uc003zch.2 + 6 696 c.642G>T c.(640-642)GTG>GTT p.V214V ADCK5_uc003zcg.2_RNA|ADCK5_uc003zci.2_5'Flank NM_174922 NP_777582 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 214 Protein kinase. integral to membrane protein serine/threonine kinase activity stomach(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TGGCACAGGTGCACAGAGCCA 0.622 ZNF517 340385 broad.mit.edu 37 8 146032665 146032665 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:146032665C>A uc003zed.1 + 5 471 c.364C>A c.(364-366)CTC>ATC p.L122I ZNF517_uc010mgd.1_Missense_Mutation_p.L28I|ZNF517_uc003zee.1_RNA|ZNF517_uc011llm.1_Missense_Mutation_p.L28I|ZNF517_uc003zef.1_Intron NM_213605 NP_998770 Q6ZMY9 ZN517_HUMAN zinc finger protein 517 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GTGGGGGTGCCTCCCCTGGGG 0.677 KANK1 23189 broad.mit.edu 37 9 742369 742369 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:742369G>A uc003zgl.1 + 14 4510 c.3861G>A c.(3859-3861)CTG>CTA p.L1287L KANK1_uc003zgn.1_Silent_p.L1287L|KANK1_uc003zgs.1_Silent_p.L1129L|KANK1_uc010mgx.1_Silent_p.L265L|KANK1_uc010mgy.1_Silent_p.L199L|KANK1_uc003zgt.1_Silent_p.L199L NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 1287 ANK 4. 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) AGCTGCTGCTGGCCCAGCCCG 0.637 DMRT3 58524 broad.mit.edu 37 9 977137 977137 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:977137C>T uc003zgw.1 + 1 174 c.136C>T c.(136-138)CGT>TGT p.R46C NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 46 DM. cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GGGCCACAAGCGTTACTGCCG 0.706 GLIS3 169792 broad.mit.edu 37 9 3856161 3856161 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:3856161G>A uc003zhw.1 - 8 2050 c.1856C>T c.(1855-1857)CCT>CTT p.P619L GLIS3_uc003zhx.1_Missense_Mutation_p.P774L|GLIS3_uc010mhf.1_Missense_Mutation_p.P168L|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Missense_Mutation_p.P552L NM_152629 NP_689842 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 isoform b 619 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) GATGTGGTGAGGAGATGGAGC 0.468 RLN1 6013 broad.mit.edu 37 9 5339637 5339637 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:5339637C>T uc003zjb.1 - 1 237 c.110G>A c.(109-111)CGC>CAC p.R37H NM_006911 NP_008842 P04808 REL1_HUMAN relaxin 1 preproprotein 37 female pregnancy|signal transduction extracellular region hormone activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984) AACTAATTCGCGGCCGCATAA 0.498 C9orf150 286343 broad.mit.edu 37 9 12821554 12821554 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:12821554G>A uc003zkw.2 + 2 1185 c.482G>A c.(481-483)CGT>CAT p.R161H NM_203403 NP_981948 Q8IV03 CI150_HUMAN hypothetical protein LOC286343 164 0 GBM - Glioblastoma multiforme(1;1.64e-13) ACCTCCTTACGTGGCAGCTAC 0.542 CNTLN 54875 broad.mit.edu 37 9 17135073 17135073 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:17135073C>T uc003zmz.2 + 1 36 c.10C>T c.(10-12)CGT>TGT p.R4C CNTLN_uc003zmx.3_Missense_Mutation_p.R4C|CNTLN_uc003zmy.2_Missense_Mutation_p.R4C|CNTLN_uc003zmw.1_Missense_Mutation_p.R4C NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN centlein isoform 1 4 centriole|membrane two-component sensor activity pancreas(1) 1 GBM - Glioblastoma multiforme(50;6.14e-10) CATGGCGGCGCGTTCGCCTCC 0.687 ADAMTSL1 92949 broad.mit.edu 37 9 18777173 18777173 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:18777173G>A uc003zne.3 + 19 3073 c.2946G>A c.(2944-2946)GCG>GCA p.A982A NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 982 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) AGGTGCTTGCGGGGAGGAAGG 0.667 IFT74 80173 broad.mit.edu 37 9 26984355 26984355 + Splice_Site SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:26984355T>C uc010mja.2 + 5 531 c.404_splice c.e5+2 p.R135_splice IFT74_uc010mjb.2_Splice_Site_p.R135_splice|IFT74_uc003zqf.3_Splice_Site_p.R135_splice|IFT74_uc003zqg.3_Splice_Site_p.R135_splice NM_001099223 NP_001092693 Q96LB3 IFT74_HUMAN coiled-coil domain containing 2 isoform a 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) TGAAAAGAGGTGAGTAATAAG 0.259 UBAP2 55833 broad.mit.edu 37 9 33996302 33996302 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:33996302A>G uc003ztq.1 - 4 320 c.207T>C c.(205-207)GAT>GAC p.D69D UBAP2_uc011loc.1_Silent_p.D31D|UBAP2_uc011lod.1_5'UTR|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Intron|UBAP2_uc011log.1_Silent_p.D68D|UBAP2_uc003ztr.2_Intron NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 69 UBA. ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) CTATGCATTCATCCTGATTTT 0.348 DCAF12 25853 broad.mit.edu 37 9 34098435 34098435 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:34098435G>A uc003ztt.2 - 5 1024 c.682C>T c.(682-684)CGG>TGG p.R228W NM_015397 NP_056212 Q5T6F0 DCA12_HUMAN DDB1 and CUL4 associated factor 12 228 centrosome|CUL4 RING ubiquitin ligase complex 0 ACAGGGACCCGTGACACATTG 0.517 DNAI1 27019 broad.mit.edu 37 9 34491509 34491509 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:34491509C>T uc003zum.2 + 8 831 c.638C>T c.(637-639)ACG>ATG p.T213M NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 213 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) GAATGCCAGACGGAGCCTCCT 0.483 Kartagener_syndrome GALT 2592 broad.mit.edu 37 9 34648866 34648866 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:34648866T>C uc003zve.2 + 8 862 c.795T>C c.(793-795)CCT>CCC p.P265P GALT_uc003zvf.2_Silent_p.P156P|GALT_uc003zvg.2_Silent_p.P137P|GALT_uc003zvh.2_Silent_p.P217P|GALT_uc011lop.1_Silent_p.P217P|IL11RA_uc003zvi.2_5'Flank NM_000155 NP_000146 P07902 GALT_HUMAN galactose-1-phosphate uridylyltransferase 265 galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding 0 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) GGCGGCTACCTGAGCTGACCC 0.612 Galactosemia TLN1 7094 broad.mit.edu 37 9 35719202 35719202 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:35719202G>A uc003zxt.2 - 16 2119 c.1765C>T c.(1765-1767)CGT>TGT p.R589C NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 589 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TTCACCCCACGGGACATCTCC 0.607 RNF38 152006 broad.mit.edu 37 9 36357922 36357922 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:36357922G>A uc003zzh.2 - 5 779 c.588C>T c.(586-588)GTC>GTT p.V196V RNF38_uc003zzi.2_Silent_p.V146V|RNF38_uc003zzj.2_Silent_p.V113V|RNF38_uc003zzk.2_Silent_p.V113V|RNF38_uc003zzl.2_Silent_p.V120V|RNF38_uc003zzm.2_Silent_p.V113V NM_022781 NP_073618 Q9H0F5 RNF38_HUMAN ring finger protein 38 isoform 1 196 zinc ion binding central_nervous_system(1) 1 STAD - Stomach adenocarcinoma(86;0.228) AAGAAACAGGGACTGTTCCTT 0.403 MELK 9833 broad.mit.edu 37 9 36671000 36671000 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:36671000G>A uc003zzn.2 + 16 1649 c.1511G>A c.(1510-1512)CGC>CAC p.R504H MELK_uc011lpm.1_Missense_Mutation_p.R373H|MELK_uc011lpn.1_Missense_Mutation_p.R463H|MELK_uc011lpo.1_Missense_Mutation_p.R310H|MELK_uc010mll.2_Missense_Mutation_p.R472H|MELK_uc011lpp.1_Missense_Mutation_p.R456H|MELK_uc010mlm.2_Missense_Mutation_p.R433H|MELK_uc011lpq.1_Missense_Mutation_p.R310H|MELK_uc011lpr.1_Missense_Mutation_p.R433H|MELK_uc011lps.1_Missense_Mutation_p.R424H NM_014791 NP_055606 Q14680 MELK_HUMAN maternal embryonic leucine zipper kinase 504 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) TTCAGGTGCCGCTCAGTGGAA 0.488 PGM5 5239 broad.mit.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:70993145A>G uc004agr.2 + 2 521 c.292A>G c.(292-294)ATC>GTC p.I98V NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 98 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 ACAGAATGGCATCTTGTCGAC 0.478 TJP2 9414 broad.mit.edu 37 9 71831301 71831301 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:71831301A>C uc004ahe.2 + 3 361 c.161A>C c.(160-162)AAC>ACC p.N54T TJP2_uc011lrs.1_Missense_Mutation_p.N31T|TJP2_uc004ahb.1_Missense_Mutation_p.N31T|TJP2_uc011lrt.1_Missense_Mutation_p.N31T|TJP2_uc004ahd.2_Missense_Mutation_p.N54T|TJP2_uc004ahf.2_Missense_Mutation_p.N54T|TJP2_uc011lru.1_Missense_Mutation_p.N58T|TJP2_uc011lrv.1_Missense_Mutation_p.N76T NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 54 PDZ 1. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 GGCAGAGACAACCCCCACTTT 0.488 TJP2 9414 broad.mit.edu 37 9 71866280 71866280 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:71866280G>T uc004ahe.2 + 21 3521 c.3321G>T c.(3319-3321)AGG>AGT p.R1107S TJP2_uc011lrs.1_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Missense_Mutation_p.R1074S|TJP2_uc011lrv.1_Missense_Mutation_p.R1129S|TJP2_uc010mom.1_Intron NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 1107 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 AGAATGCAAGGGTAATTGTTT 0.418 TRPM6 140803 broad.mit.edu 37 9 77353400 77353400 + Missense_Mutation SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:77353400A>C uc004ajl.1 - 36 5937 c.5699T>G c.(5698-5700)CTG>CGG p.L1900R TRPM6_uc004ajk.1_Missense_Mutation_p.L1895R|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.L851R|TRPM6_uc010mpd.1_Missense_Mutation_p.L733R|TRPM6_uc010mpe.1_Missense_Mutation_p.L447R|TRPM6_uc004ajj.1_Missense_Mutation_p.L856R NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1900 Alpha-type protein kinase.|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 CAGCTCCTCCAGGGTGTTGGT 0.468 PRUNE2 158471 broad.mit.edu 37 9 79320305 79320305 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:79320305G>A uc010mpk.2 - 8 7009 c.6885C>T c.(6883-6885)AGC>AGT p.S2295S PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2295 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 AGGCAGCTTCGCTTATATCCA 0.468 RMI1 80010 broad.mit.edu 37 9 86617331 86617331 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:86617331G>A uc004anq.3 + 3 1838 c.1430G>A c.(1429-1431)AGC>AAC p.S477N RMI1_uc004anr.3_Missense_Mutation_p.S477N|RMI1_uc004anp.3_Missense_Mutation_p.S477N|RMI1_uc004ans.3_Missense_Mutation_p.S477N NM_024945 NP_079221 Q9H9A7 RMI1_HUMAN RMI1, RecQ mediated genome instability 1, 477 DNA replication nucleus 0 TCAGAGAATAGCATTAATCTT 0.338 AGTPBP1 23287 broad.mit.edu 37 9 88257780 88257780 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:88257780A>G uc011ltd.1 - 12 1297 c.1264T>C c.(1264-1266)TAT>CAT p.Y422H AGTPBP1_uc004aod.3_Missense_Mutation_p.Y48H|AGTPBP1_uc011ltc.1_Missense_Mutation_p.Y320H|AGTPBP1_uc010mqc.2_Missense_Mutation_p.Y382H|AGTPBP1_uc011lte.1_Missense_Mutation_p.Y434H NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 422 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 AGGTGTTCATACATTTTTAGA 0.294 GAS1 2619 broad.mit.edu 37 9 89560899 89560899 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:89560899C>T uc004aox.3 - 1 1206 c.796G>A c.(796-798)GAT>AAT p.D266N uc004aoy.2_5'Flank NM_002048 NP_002039 P54826 GAS1_HUMAN growth arrest-specific 1 precursor 266 cell cycle arrest|negative regulation of S phase of mitotic cell cycle anchored to plasma membrane 0 TAGTCCTCATCGTAGTAGTCG 0.731 CDK20 23552 broad.mit.edu 37 9 90589374 90589374 + Translation_Start_Site SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:90589374G>A uc004apr.2 - 1 294 c.-12C>T c.(-14--10)CACGA>CATGA CDK20_uc004aps.2_Translation_Start_Site|CDK20_uc004apt.2_Translation_Start_Site|CDK20_uc004apu.2_Translation_Start_Site NM_001039803 NP_001034892 Q8IZL9 CDK20_HUMAN cell cycle related kinase isoform 3 cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 CGCTGCAGTCGTGGGCCTGTG 0.652 ROR2 4920 broad.mit.edu 37 9 94495526 94495526 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:94495526C>T uc004arj.1 - 6 1014 c.815G>A c.(814-816)CGC>CAC p.R272H ROR2_uc004ari.1_Missense_Mutation_p.R132H|ROR2_uc004ark.2_Missense_Mutation_p.R272H NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 272 FZ.|Extracellular (Potential). 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 CGGGTTGGAGCGGGCGATGGT 0.677 FGD3 89846 broad.mit.edu 37 9 95784613 95784613 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:95784613C>T uc004asw.2 + 14 2127 c.1499C>T c.(1498-1500)ACG>ATG p.T500M FGD3_uc004asx.2_Missense_Mutation_p.T500M|FGD3_uc004asz.2_Missense_Mutation_p.T500M|FGD3_uc011luc.1_Missense_Mutation_p.T103M NM_001083536 NP_001077005 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 500 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 TTCTAGATCACGAGCACCAGC 0.637 NINJ1 4814 broad.mit.edu 37 9 95888893 95888893 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:95888893G>A uc004atg.3 - 2 174 c.103C>T c.(103-105)CCC>TCC p.P35S NINJ1_uc004ath.3_5'UTR NM_004148 NP_004139 Q92982 NINJ1_HUMAN ninjurin 1 35 Extracellular (Potential). cell adhesion|nervous system development|tissue regeneration integral to membrane kidney(1) 1 ACGTTGATGGGCCCGTGCCTC 0.682 PTCH1 5727 broad.mit.edu 37 9 98215807 98215807 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:98215807C>T uc004avk.3 - 20 3590 c.3402G>A c.(3400-3402)CTG>CTA p.L1134L PTCH1_uc010mro.2_Silent_p.L983L|PTCH1_uc010mrp.2_Silent_p.L983L|PTCH1_uc010mrq.2_Silent_p.L983L|PTCH1_uc004avl.3_Silent_p.L983L|PTCH1_uc010mrr.2_Silent_p.L1068L|PTCH1_uc004avm.3_Silent_p.L1133L NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 1134 Helical; (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GCACTCCCAGCAGAGTGGACA 0.547 Basal_Cell_Nevus_syndrome PTCH1 5727 broad.mit.edu 37 9 98239083 98239083 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:98239083G>A uc004avk.3 - 11 1748 c.1560C>T c.(1558-1560)CAC>CAT p.H520H PTCH1_uc010mro.2_Silent_p.H369H|PTCH1_uc010mrp.2_Silent_p.H369H|PTCH1_uc010mrq.2_Silent_p.H369H|PTCH1_uc004avl.3_Silent_p.H369H|PTCH1_uc010mrr.2_Silent_p.H454H|PTCH1_uc004avm.3_Silent_p.H519H|PTCH1_uc010mrs.1_Silent_p.H188H NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 520 SSD.|Helical; (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.H520fs*4(1) skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) CACTGAAGGCGTGGGCCAGAA 0.443 Basal_Cell_Nevus_syndrome ZNF782 158431 broad.mit.edu 37 9 99607190 99607190 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:99607190T>C uc004awp.1 - 4 405 c.124A>G c.(124-126)AGC>GGC p.S42G ZNF782_uc011lup.1_Intron NM_001001662 NP_001001662 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) ACGAGGTGGCTGTAGTTCTCC 0.542 TDRD7 23424 broad.mit.edu 37 9 100249529 100249529 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:100249529C>T uc004axj.2 + 16 3216 c.2991C>T c.(2989-2991)CAC>CAT p.H997H TDRD7_uc011lux.1_Silent_p.H923H|TDRD7_uc011luy.1_Silent_p.H317H NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 997 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) ATGGCAAACACGAATTAGTCA 0.428 ANKS6 203286 broad.mit.edu 37 9 101540525 101540525 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:101540525G>T uc004ayu.2 - 7 1571 c.1550C>A c.(1549-1551)CCT>CAT p.P517H ANKS6_uc004ayt.2_Missense_Mutation_p.P216H|ANKS6_uc004ayv.1_5'Flank|ANKS6_uc004ayw.1_Missense_Mutation_p.P99H|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 517 ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) TTTGGTCACAGGGGCCGCATC 0.557 INVS 27130 broad.mit.edu 37 9 103002432 103002432 + Missense_Mutation SNP G G A rs150883233 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:103002432G>A uc004bap.1 + 6 918 c.706G>A c.(706-708)GTG>ATG p.V236M INVS_uc010mta.1_Missense_Mutation_p.V140M|INVS_uc011lve.1_Missense_Mutation_p.V140M|INVS_uc004bao.1_Missense_Mutation_p.V236M|INVS_uc004baq.1_Missense_Mutation_p.V140M|INVS_uc004bar.1_Missense_Mutation_p.V140M|INVS_uc010mtb.1_Translation_Start_Site NM_014425 NP_055240 Q9Y283 INVS_HUMAN inversin isoform a 236 ANK 7. 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) GAATGTGACCGTGGTTGATGT 0.448 KLF4 9314 broad.mit.edu 37 9 110249393 110249393 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:110249393C>T uc004bdh.2 - 3 1876 c.1255G>A c.(1255-1257)GCC>ACC p.A419T KLF4_uc004bdf.1_Missense_Mutation_p.A344T|KLF4_uc004bdg.2_Missense_Mutation_p.A394T NM_004235 NP_004226 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 428 fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(2)|lung(1) 3 GTGTGGGTGGCGGTCCTTTTC 0.592 C9orf4 23732 broad.mit.edu 37 9 111899876 111899876 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:111899876C>T uc004bdw.1 - 5 894 c.894G>A c.(892-894)CCG>CCA p.P298P NM_014334 NP_055149 Q9P0K9 CI004_HUMAN hypothetical protein LOC23732 298 integral to membrane 0 CTGAAGCCGGCGGTGAGTCTA 0.388 PTPN3 5774 broad.mit.edu 37 9 112141873 112141873 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:112141873T>C uc004bed.2 - 26 2817 c.2705A>G c.(2704-2706)TAT>TGT p.Y902C PTPN3_uc004beb.2_Missense_Mutation_p.Y771C|PTPN3_uc004bec.2_Missense_Mutation_p.Y726C|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.Y857C|PTPN3_uc011lwh.1_Missense_Mutation_p.Y748C|PTPN3_uc011lwd.1_Missense_Mutation_p.Y370C|PTPN3_uc011lwe.1_Missense_Mutation_p.Y615C|PTPN3_uc011lwf.1_Missense_Mutation_p.Y570C NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 902 negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 ACCTTCTTCATACACACGAAG 0.443 ZNF483 158399 broad.mit.edu 37 9 114304406 114304406 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:114304406A>G uc004bff.2 + 6 1415 c.1191A>G c.(1189-1191)ATA>ATG p.I397M ZNF483_uc004bfg.2_Intron NM_133464 NP_597721 Q8TF39 ZN483_HUMAN zinc finger protein 483 isoform a 397 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 AGTGTGGGATAATCTTTATTA 0.403 SLC46A2 57864 broad.mit.edu 37 9 115651926 115651926 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:115651926G>A uc004bgk.2 - 1 1268 c.1036C>T c.(1036-1038)CGG>TGG p.R346W NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 346 Cytoplasmic (Potential). integral to membrane|plasma membrane symporter activity central_nervous_system(1) 1 GTGGTGTCCCGAAAGCAGCGG 0.522 AKNA 80709 broad.mit.edu 37 9 117104360 117104360 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:117104360G>A uc004biq.3 - 19 3938 c.3803C>T c.(3802-3804)ACC>ATC p.T1268I AKNA_uc004bin.3_Missense_Mutation_p.T515I|AKNA_uc004bio.3_Missense_Mutation_p.T728I|AKNA_uc004bip.3_Missense_Mutation_p.T1187I|AKNA_uc004bir.3_Missense_Mutation_p.T1268I|AKNA_uc004bis.3_Missense_Mutation_p.T1268I|AKNA_uc010mve.2_Missense_Mutation_p.T1149I NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1268 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 ACACTGAAGGGTATCAGCGGG 0.547 TRIM32 22954 broad.mit.edu 37 9 119460614 119460614 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:119460614A>G uc004bjx.2 + 2 751 c.593A>G c.(592-594)GAG>GGG p.E198G ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.E198G NM_001099679 NP_001093149 Q13049 TRI32_HUMAN tripartite motif-containing 32 198 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|kidney(1) 3 GTCCAGGATGAGCTGGCTCGC 0.532 Bardet-Biedl_syndrome CEP110 11064 broad.mit.edu 37 9 123907626 123907626 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:123907626T>C uc004bkx.1 + 20 3304 c.3273T>C c.(3271-3273)ATT>ATC p.I1091I CEP110_uc004bky.1_Silent_p.I695I|CEP110_uc004bla.1_Silent_p.I539I|CEP110_uc010mvo.1_5'UTR NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 1091 Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 GGACAGAGATTGCAAGGCTGC 0.403 PTGS1 5742 broad.mit.edu 37 9 125141066 125141066 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:125141066T>G uc004bmg.1 + 5 500 c.365T>G c.(364-366)CTT>CGT p.L122R PTGS1_uc011lys.1_Missense_Mutation_p.L97R|PTGS1_uc010mwb.1_Missense_Mutation_p.L13R|PTGS1_uc004bmf.1_Missense_Mutation_p.L122R|PTGS1_uc004bmh.1_Missense_Mutation_p.L13R|PTGS1_uc011lyt.1_Missense_Mutation_p.L13R NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 122 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane 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)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CGCTCCAACCTTATCCCCAGT 0.532 PTGS1 5742 broad.mit.edu 37 9 125154761 125154761 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:125154761C>T uc004bmg.1 + 11 1873 c.1738C>T c.(1738-1740)CGT>TGT p.R580C PTGS1_uc011lys.1_Missense_Mutation_p.R518C|PTGS1_uc010mwb.1_Missense_Mutation_p.R434C|PTGS1_uc004bmf.1_Missense_Mutation_p.R543C|PTGS1_uc004bmh.1_Missense_Mutation_p.R471C|PTGS1_uc011lyt.1_Missense_Mutation_p.R471C NM_000962 NP_000953 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 isoform 1 580 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane 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)|skin(1) 2 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CGTTTCCTTCCGTGTGCCGGA 0.572 PDCL 5082 broad.mit.edu 37 9 125582522 125582522 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:125582522G>A uc004bmz.1 - 4 844 c.748C>T c.(748-750)CGT>TGT p.R250C uc004bmy.2_5'Flank|PDCL_uc004bna.2_3'UTR NM_005388 NP_005379 Q13371 PHLP_HUMAN phosducin-like 250 signal transduction|visual perception 0 TCAGTAACACGAACAAAATTG 0.493 ZBTB6 10773 broad.mit.edu 37 9 125673316 125673316 + Nonsense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:125673316G>A uc004bnh.2 - 2 1125 c.1036C>T c.(1036-1038)CGA>TGA p.R346* NM_006626 NP_006617 Q15916 ZBTB6_HUMAN zinc finger and BTB domain containing 6 346 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATGTGTCCTCGGATGTGTCGG 0.428 ZNF79 7633 broad.mit.edu 37 9 130191185 130191185 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:130191185A>G uc004bqw.3 + 2 505 c.91A>G c.(91-93)ACA>GCA p.T31A ZNF79_uc011maf.1_Missense_Mutation_p.T7A|ZNF79_uc011mag.1_Missense_Mutation_p.T7A NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 31 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 TGGTCTCCTCACAGCTGGGCC 0.468 ZNF79 7633 broad.mit.edu 37 9 130207427 130207427 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:130207427G>A uc004bqw.3 + 5 1862 c.1448G>A c.(1447-1449)CGG>CAG p.R483Q ZNF79_uc011maf.1_Missense_Mutation_p.R459Q|ZNF79_uc011mag.1_Missense_Mutation_p.R459Q NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 483 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 AAGGCCTTCCGGTGCAGCTCT 0.537 ST6GALNAC6 30815 broad.mit.edu 37 9 130653012 130653012 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:130653012G>A uc004bso.1 - 5 727 c.608C>T c.(607-609)GCG>GTG p.A203V ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.A169V|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bsp.1_Missense_Mutation_p.A203V|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.A169V|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.A169V|ST6GALNAC6_uc010mxp.1_RNA NM_013443 NP_038471 Q969X2 SIA7F_HUMAN sialytransferase 7F 203 Lumenal (Potential). protein glycosylation integral to Golgi membrane|plasma membrane 0 CACCAGGCCCGCTCGCTGGAT 0.622 SET 6418 broad.mit.edu 37 9 131455933 131455933 + Missense_Mutation SNP C C T rs142648600 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:131455933C>T uc004bvt.3 + 6 789 c.548C>T c.(547-549)TCG>TTG p.S183L SET_uc004bvu.3_Missense_Mutation_p.S170L|SET_uc010myg.2_RNA|SET_uc011mbj.1_Missense_Mutation_p.S159L NM_001122821 NP_001116293 Q01105 SET_HUMAN SET translocation (myeloid leukemia-associated) 183 DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity 0 Myeloproliferative disorder(178;0.204) GBM - Glioblastoma multiforme(294;3.1e-09) ACGAAACGTTCGAGTCAAACG 0.418 T NUP214 AML PKN3 29941 broad.mit.edu 37 9 131475348 131475348 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:131475348C>A uc004bvw.2 + 7 1246 c.853C>A c.(853-855)CTC>ATC p.L285I PKN3_uc010myh.2_Missense_Mutation_p.L285I|PKN3_uc011mbk.1_5'UTR NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN protein kinase PKNbeta 285 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity stomach(2)|lung(2) 4 GCAGGTCCGCCTCCTGGGCTG 0.677 LRRC8A 56262 broad.mit.edu 37 9 131670480 131670480 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:131670480G>A uc004bwl.3 + 3 1291 c.1037G>A c.(1036-1038)CGC>CAC p.R346H LRRC8A_uc010myp.2_Missense_Mutation_p.R346H|LRRC8A_uc010myq.2_Missense_Mutation_p.R346H NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 346 pre-B cell differentiation integral to membrane 0 ATGCTACGGCGCTCCCTCAAG 0.542 ABL1 25 broad.mit.edu 37 9 133755916 133755916 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:133755916G>A uc004bzw.2 + 10 1546 c.1543G>A c.(1543-1545)GTC>ATC p.V515I ABL1_uc004bzv.2_Missense_Mutation_p.V534I NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 515 actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) GAAACAAGGCGTCCGTGGGGC 0.562 T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL LAMC3 10319 broad.mit.edu 37 9 133901842 133901842 + Missense_Mutation SNP G G A rs141325432 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:133901842G>A uc004caa.1 + 2 642 c.544G>A c.(544-546)GGC>AGC p.G182S NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 182 Laminin N-terminal. 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) CCTGCGCCCCGGCGAGGACGA 0.706 LAMC3 10319 broad.mit.edu 37 9 133928327 133928327 + Silent SNP C C T rs142915387 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:133928327C>T uc004caa.1 + 11 2012 c.1914C>T c.(1912-1914)CGC>CGT p.R638R NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 638 Laminin IV type A. 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) TCCGCCTCCGCGTCAGTCCCG 0.682 OREG0019556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RXRA 6256 broad.mit.edu 37 9 137313626 137313626 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:137313626C>T uc004cfb.2 + 6 1047 c.885C>T c.(883-885)GAC>GAT p.D295D RXRA_uc004cfc.1_Silent_p.D198D|RXRA_uc004cfd.1_Silent_p.D66D NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 295 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) TGCCCCTGGACGACCAGGTCA 0.627 COL5A1 1289 broad.mit.edu 37 9 137622298 137622298 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:137622298G>A uc004cfe.2 + 7 1523 c.1141G>A c.(1141-1143)GCC>ACC p.A381T NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 381 Nonhelical 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) CACCAGCACCGCCGACACCTC 0.622 KIAA0649 9858 broad.mit.edu 37 9 138378033 138378033 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:138378033G>A uc004cfr.1 + 4 2226 c.1677G>A c.(1675-1677)CCG>CCA p.P559P NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 559 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) AGAGCTGCCCGCAGGCTGCCC 0.617 NOTCH1 4851 broad.mit.edu 37 9 139393380 139393380 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:139393380C>A uc004chz.2 - 33 6151 c.6151G>T c.(6151-6153)GGG>TGG p.G2051W NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2051 Cytoplasmic (Potential).|ANK 4. 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) TTGTTAGCCCCGTTCTTCAGG 0.592 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) C9orf86 55684 broad.mit.edu 37 9 139726288 139726288 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:139726288C>T uc004cji.1 + 6 842 c.574C>T c.(574-576)CGT>TGT p.R192C C9orf86_uc004cjm.2_Missense_Mutation_p.R192C|C9orf86_uc004cjh.2_Missense_Mutation_p.R192C|C9orf86_uc004cjj.1_Missense_Mutation_p.R192C|C9orf86_uc004cjk.1_RNA|C9orf86_uc010nbr.1_Missense_Mutation_p.R192C|C9orf86_uc004cjl.1_RNA|C9orf86_uc010nbs.1_Missense_Mutation_p.R77C NM_024718 NP_078994 Q3YEC7 PARF_HUMAN Rab-like GTP-binding protein 1 isoform 1 192 Small GTPase-like. small GTPase mediated signal transduction cytoplasm|nucleus GTP binding|protein binding 0 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183) GGACGACGTGCGTGACTTCAT 0.672 C9orf172 389813 broad.mit.edu 37 9 139741054 139741054 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:139741054G>A uc011meh.1 + 1 2188 c.2188G>A c.(2188-2190)GGC>AGC p.G730S PHPT1_uc004cjp.2_5'Flank|PHPT1_uc011mei.1_5'Flank|PHPT1_uc004cjq.3_5'Flank NM_001080482 NP_001073951 C9J069 CI172_HUMAN chromosome 9 open reading frame 172 730 0 CCGCGACAGCGGCCCGGTGCA 0.726 TUBB2C 10383 broad.mit.edu 37 9 140137440 140137440 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:140137440T>C uc004cmh.1 + 4 872 c.770T>C c.(769-771)ATG>ACG p.M257T TUBB2C_uc004cmg.1_Missense_Mutation_p.M111T NM_006088 NP_006079 P68371 TBB2C_HUMAN tubulin, beta, 2 257 'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding ovary(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GCTGTGAACATGGTCCCGTTT 0.652 TUBB2C 10383 broad.mit.edu 37 9 140137949 140137949 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:140137949G>A uc004cmh.1 + 4 1381 c.1279G>A c.(1279-1281)GAT>AAT p.D427N TUBB2C_uc004cmg.1_Missense_Mutation_p.D281N NM_006088 NP_006079 P68371 TBB2C_HUMAN tubulin, beta, 2 427 'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding ovary(1) 1 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GCAGTACCAGGATGCCACAGC 0.602 ZBED1 9189 broad.mit.edu 37 X 2408490 2408490 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:2408490C>T uc004cqg.2 - 2 472 c.271G>A c.(271-273)GCC>ACC p.A91T DHRSX_uc004cqf.3_Intron|ZBED1_uc004cqh.1_Missense_Mutation_p.A91T NM_004729 NP_004720 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 91 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase 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) AAGGCGGTGGCGAAGGCTTCA 0.627 ARSE 415 broad.mit.edu 37 X 2856237 2856237 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:2856237G>A uc004crc.3 - 9 1438 c.1188C>T c.(1186-1188)CCC>CCT p.P396P ARSE_uc011mhi.1_Silent_p.P342P|ARSE_uc011mhh.1_Silent_p.P421P NM_000047 NP_000038 P51690 ARSE_HUMAN arylsulfatase E precursor 396 skeletal system development Golgi stack arylsulfatase activity|metal ion binding ovary(1)|central_nervous_system(1) 2 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) GGAGCACCCCGGGCCAGCGGA 0.647 MXRA5 25878 broad.mit.edu 37 X 3261813 3261813 + Missense_Mutation SNP G G A rs146747759 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:3261813G>A uc004crg.3 - 2 219 c.62C>T c.(61-63)CCG>CTG p.P21L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 21 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGCCACTCGCGGATGGCCCCA 0.657 NLGN4X 57502 broad.mit.edu 37 X 5827119 5827119 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:5827119A>G uc010ndh.2 - 4 1288 c.787T>C c.(787-789)TTG>CTG p.L263L NLGN4X_uc004crp.2_Silent_p.L283L|NLGN4X_uc004crq.2_Silent_p.L263L|NLGN4X_uc010ndi.2_Silent_p.L300L|NLGN4X_uc004crr.2_Silent_p.L263L|NLGN4X_uc010ndj.2_Silent_p.L263L NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 263 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 GACAGGGTCAACAGGCTGACA 0.562 KAL1 3730 broad.mit.edu 37 X 8553428 8553428 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:8553428C>T uc004csf.2 - 6 886 c.736G>A c.(736-738)GAG>AAG p.E246K NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 246 Fibronectin type-III 1. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity ovary(3)|pancreas(1) 4 TGAACTCGCTCGTCTGTGGTC 0.488 WWC3 55841 broad.mit.edu 37 X 10077879 10077879 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:10077879G>A uc004csx.3 + 9 991 c.793G>A c.(793-795)GAG>AAG p.E265K WWC3_uc010nds.2_5'UTR|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 265 Potential. ovary(4) 4 AAGCACGGCCGAGGCTGACAG 0.622 ARHGAP6 395 broad.mit.edu 37 X 11187743 11187743 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:11187743T>C uc004cup.1 - 9 2564 c.1691A>G c.(1690-1692)CAC>CGC p.H564R ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.H564R|ARHGAP6_uc004cum.1_Missense_Mutation_p.H361R|ARHGAP6_uc004cun.1_Missense_Mutation_p.H384R|ARHGAP6_uc010neb.1_Missense_Mutation_p.H386R|ARHGAP6_uc011mif.1_Missense_Mutation_p.H361R NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 564 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 CTTCTGCTTGTGCAGCAGGTT 0.438 PIGA 5277 broad.mit.edu 37 X 15349840 15349840 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:15349840G>A uc004cwr.2 - 2 313 c.213C>T c.(211-213)ACC>ACT p.T71T PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Silent_p.T71T|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Silent_p.T71T NM_002641 NP_002632 P37287 PIGA_HUMAN phosphatidylinositol 71 Cytoplasmic (Potential). C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding 0 Hepatocellular(33;0.183) CATAAGCATGGGTGACAATTA 0.448 AP1S2 8905 broad.mit.edu 37 X 15845479 15845479 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:15845479C>T uc004cxi.2 - 5 733 c.443G>A c.(442-444)CGT>CAT p.R148H AP1S2_uc004cxh.2_3'UTR|AP1S2_uc010nex.2_Missense_Mutation_p.R193H NM_003916 NP_003907 P56377 AP1S2_HUMAN adaptor-related protein complex 1 sigma 2 148 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein transporter activity 0 Hepatocellular(33;0.183) AAGAACACTACGTGGGGTTTC 0.453 BEND2 139105 broad.mit.edu 37 X 18221769 18221769 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:18221769A>G uc004cyj.3 - 5 913 c.759T>C c.(757-759)GCT>GCC p.A253A BEND2_uc010nfb.2_Silent_p.A253A NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 253 ovary(3)|kidney(1)|central_nervous_system(1) 5 CTGCTGTAGTAGCATTGGCAA 0.448 PHKA2 5256 broad.mit.edu 37 X 18923920 18923920 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:18923920A>G uc004cyv.3 - 26 3294 c.2864T>C c.(2863-2865)CTG>CCG p.L955P PHKA2_uc004cyu.3_Missense_Mutation_p.L253P|PHKA2_uc010nfe.1_Missense_Mutation_p.L5P|PHKA2_uc010nff.1_RNA NM_000292 NP_000283 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 955 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) AATATGGTGCAGGAGATTTTT 0.438 GPR64 10149 broad.mit.edu 37 X 19028804 19028804 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:19028804C>T uc004cyx.2 - 17 1356 c.1192G>A c.(1192-1194)GCA>ACA p.A398T GPR64_uc004cyy.2_Missense_Mutation_p.A395T|GPR64_uc004cyz.2_Missense_Mutation_p.A384T|GPR64_uc004czb.2_Missense_Mutation_p.A398T|GPR64_uc004czc.2_Missense_Mutation_p.A382T|GPR64_uc004czd.2_Missense_Mutation_p.A374T|GPR64_uc004cze.2_Missense_Mutation_p.A368T|GPR64_uc004czf.2_Missense_Mutation_p.A360T|GPR64_uc004cza.2_Missense_Mutation_p.A376T|GPR64_uc004cyw.2_Missense_Mutation_p.A382T|GPR64_uc010nfj.2_Missense_Mutation_p.A368T NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 398 Extracellular (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) ATTTCTCCTGCGAGGTTAGGC 0.517 YY2 404281 broad.mit.edu 37 X 21875040 21875040 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:21875040C>T uc011mjp.1 + 1 438 c.438C>T c.(436-438)AGC>AGT p.S146S MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Silent_p.S364S|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 aaaagcccagcGGCAAGAGTG 0.512 YY2 404281 broad.mit.edu 37 X 21875629 21875629 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:21875629T>C uc011mjp.1 + 1 1027 c.1027T>C c.(1027-1029)TGC>CGC p.C343R MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.C561R|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor 343 Mediates transcriptional repression.|C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 GCCCTTCGTGTGCCCCTTCGA 0.498 KLHL15 80311 broad.mit.edu 37 X 24006748 24006748 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:24006748G>A uc004dba.3 - 4 1361 c.1105C>T c.(1105-1107)CGC>TGC p.R369C NM_030624 NP_085127 Q96M94 KLH15_HUMAN kelch-like 15 369 Kelch 1. ovary(1)|breast(1) 2 AATTCAGAGCGTGGTACAGAC 0.468 FAM48B2 170067 broad.mit.edu 37 X 24331377 24331377 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:24331377G>A uc011mjw.1 - 1 56 c.56C>T c.(55-57)GCC>GTC p.A19V NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN family with sequence similarity 48, member B2 19 0 TCTCTGTTGGGCAATTTCAGT 0.443 MAGEB1 4112 broad.mit.edu 37 X 30269562 30269562 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:30269562C>T uc004dcc.2 + 4 1272 c.952C>T c.(952-954)CGA>TGA p.R318* MAGEB1_uc004dcd.2_Nonsense_Mutation_p.R318*|MAGEB1_uc004dce.2_Nonsense_Mutation_p.R318* NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 318 0 AGCCCAAGTCCGATCCAGTGT 0.542 DMD 1756 broad.mit.edu 37 X 31198593 31198593 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:31198593C>A uc004dda.1 - 69 10224 c.9980G>T c.(9979-9981)AGG>ATG p.R3327M DMD_uc004dcq.1_Missense_Mutation_p.R598M|DMD_uc004dcr.1_Missense_Mutation_p.R867M|DMD_uc004dcs.1_Missense_Mutation_p.R867M|DMD_uc004dct.1_Missense_Mutation_p.R867M|DMD_uc004dcu.1_Missense_Mutation_p.R867M|DMD_uc004dcv.1_Missense_Mutation_p.R867M|DMD_uc004dcw.2_Missense_Mutation_p.R1983M|DMD_uc004dcx.2_Missense_Mutation_p.R1986M|DMD_uc004dcz.2_Missense_Mutation_p.R3204M|DMD_uc004dcy.1_Missense_Mutation_p.R3323M|DMD_uc004ddb.1_Missense_Mutation_p.R3319M|DMD_uc004dcm.1_Missense_Mutation_p.R259M|DMD_uc004dcn.1_Missense_Mutation_p.R259M|DMD_uc004dco.1_Missense_Mutation_p.R259M|DMD_uc004dcp.1_Missense_Mutation_p.R259M|DMD_uc011mkb.1_Missense_Mutation_p.R259M|DMD_uc010ngm.2_Missense_Mutation_p.R259M NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3327 Interaction with SYNM (By similarity).|ZZ-type. 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) CTTTAGACTCCTGTACCTGAT 0.368 FAM47B 170062 broad.mit.edu 37 X 34962518 34962518 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:34962518C>T uc004ddi.1 + 1 1588 c.1570C>T c.(1570-1572)CGG>TGG p.R524W NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 524 ovary(3)|breast(1) 4 CGAATTCTTACGGATAAAATA 0.493 FAM47C 442444 broad.mit.edu 37 X 37027784 37027784 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:37027784G>A uc004ddl.1 + 1 1315 c.1301G>A c.(1300-1302)CGC>CAC p.R434H NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 434 ovary(3) 3 CCCAAGACTCGCGGATCTCAT 0.617 USP9X 8239 broad.mit.edu 37 X 41060361 41060361 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:41060361G>A uc004dfb.2 + 31 5285 c.4652G>A c.(4651-4653)CGC>CAC p.R1551H USP9X_uc004dfc.2_Missense_Mutation_p.R1551H NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1551 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 GTTGGACCCCGCCCACCCAAA 0.473 DDX3X 1654 broad.mit.edu 37 X 41202520 41202520 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:41202520C>T uc004dfe.2 + 7 1450 c.595C>T c.(595-597)CGT>TGT p.R199C DDX3X_uc010nhf.1_Missense_Mutation_p.R183C|DDX3X_uc004dff.2_Missense_Mutation_p.R199C|DDX3X_uc011mkq.1_Missense_Mutation_p.R183C|DDX3X_uc011mkr.1_Missense_Mutation_p.R199C|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 199 Q motif. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 TGAGCTTACTCGTTATACTCG 0.398 HNSCC(61;0.18) KDM6A 7403 broad.mit.edu 37 X 44879906 44879906 + Silent SNP A A C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:44879906A>C uc004dge.3 + 6 870 c.495A>C c.(493-495)CGA>CGC p.R165R KDM6A_uc010nhk.2_Silent_p.R165R|KDM6A_uc011mkz.1_Silent_p.R165R|KDM6A_uc011mla.1_Silent_p.R165R|KDM6A_uc011mlb.1_Silent_p.R165R|KDM6A_uc011mlc.1_Intron NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 165 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(4)|p.?(1) kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 GCTTTTGTCGAGCCAAGGAAA 0.363 D|N|F|S renal|oesophageal SCC|MM RBM10 8241 broad.mit.edu 37 X 47028858 47028858 + Missense_Mutation SNP G G T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:47028858G>T uc004dhf.2 + 3 541 c.162G>T c.(160-162)AAG>AAT p.K54N RBM10_uc004dhe.1_Missense_Mutation_p.S52I|RBM10_uc004dhg.2_Missense_Mutation_p.K54N|RBM10_uc004dhh.2_Missense_Mutation_p.K54N|RBM10_uc010nhq.2_Missense_Mutation_p.K54N|RBM10_uc004dhi.2_Missense_Mutation_p.K119N NM_005676 NP_005667 P98175 RBM10_HUMAN RNA binding motif protein 10 isoform 1 54 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 AGGAGGGCAAGCATGACTATG 0.637 ZNF41 7592 broad.mit.edu 37 X 47307606 47307606 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:47307606T>G uc004dhs.3 - 4 1756 c.1689A>C c.(1687-1689)AAA>AAC p.K563N ZNF41_uc004dhu.3_Missense_Mutation_p.K555N|ZNF41_uc004dht.3_Missense_Mutation_p.K435N|ZNF41_uc004dhv.3_Missense_Mutation_p.K531N|ZNF41_uc004dhw.3_Missense_Mutation_p.K523N|ZNF41_uc004dhy.3_Missense_Mutation_p.K521N|ZNF41_uc004dhx.3_Missense_Mutation_p.K521N|ZNF41_uc011mlm.1_Missense_Mutation_p.K435N NM_153380 NP_700359 P51814 ZNF41_HUMAN zinc finger protein 41 563 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 all_lung(315;0.000129) ACATATAGGGTTTTTCCCCAG 0.418 KCND1 3750 broad.mit.edu 37 X 48826003 48826003 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:48826003G>A uc004dlx.1 - 1 2249 c.676C>T c.(676-678)CGC>TGC p.R226C KCND1_uc004dlw.1_5'Flank NM_004979 NP_004970 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related 226 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity ovary(2)|lung(1) 3 TGTGGGAAGCGTTCGCCACAG 0.607 CACNA1F 778 broad.mit.edu 37 X 49086760 49086760 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:49086760C>T uc004dnb.2 - 6 801 c.739G>A c.(739-741)GTC>ATC p.V247I CACNA1F_uc010nip.2_Missense_Mutation_p.V247I NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 247 I.|Helical; Name=S5 of repeat I; (Potential). 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) ATGATGATGACGAAGAGCACG 0.567 PPP1R3F 89801 broad.mit.edu 37 X 49142794 49142794 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:49142794G>A uc004dnh.1 + 4 1658 c.1642G>A c.(1642-1644)GCC>ACC p.A548T PPP1R3F_uc011mnd.1_Missense_Mutation_p.A219T|PPP1R3F_uc004dni.2_Missense_Mutation_p.A202T|PPP1R3F_uc004dnj.1_Missense_Mutation_p.A202T NM_033215 NP_149992 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory (inhibitor) 548 Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 Ovarian(276;0.236) CCTGAACAGCGCCCTGGCTGA 0.637 SHROOM4 57477 broad.mit.edu 37 X 50350731 50350731 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:50350731C>T uc004dpe.2 - 6 3437 c.3411G>A c.(3409-3411)GAG>GAA p.E1137E SHROOM4_uc004dpd.3_RNA NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 1137 Glu-rich. 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) cttcttcttcctcctcctcct 0.219 SHROOM4 57477 broad.mit.edu 37 X 50377272 50377272 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:50377272C>T uc004dpe.2 - 4 1827 c.1801G>A c.(1801-1803)GCC>ACC p.A601T SHROOM4_uc004dpd.3_RNA|SHROOM4_uc004dpf.1_Missense_Mutation_p.A485T NM_020717 NP_065768 Q9ULL8 SHRM4_HUMAN shroom family member 4 601 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) TGGAGCTGGGCCTTCCTCCTC 0.572 NUDT11 55190 broad.mit.edu 37 X 51239179 51239179 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:51239179G>A uc010njt.2 - 1 281 c.118C>T c.(118-120)CGG>TGG p.R40W NM_018159 NP_060629 Q96G61 NUD11_HUMAN nudix-type motif 11 40 Nudix hydrolase. Substrate (By similarity). cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding 0 Ovarian(276;0.236) TCCGGGTACCGGCTGCTACTC 0.692 HNSCC(48;0.14) HUWE1 10075 broad.mit.edu 37 X 53575177 53575177 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:53575177G>A uc004dsp.2 - 68 10495 c.10093C>T c.(10093-10095)CGG>TGG p.R3365W HUWE1_uc004dsn.2_Missense_Mutation_p.R2173W NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 3365 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 CCCCTTTCCCGATCACTCTCA 0.512 FAM120C 54954 broad.mit.edu 37 X 54209078 54209078 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:54209078C>A uc004dsz.3 - 1 637 c.554G>T c.(553-555)CGT>CTT p.R185L FAM120C_uc011moh.1_Missense_Mutation_p.R185L|FAM120C_uc004dta.2_Missense_Mutation_p.R185L NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 185 ovary(1)|central_nervous_system(1) 2 CTGGCACCGACGGCCCCACTC 0.721 USP51 158880 broad.mit.edu 37 X 55514297 55514297 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:55514297G>A uc004dun.1 - 2 1155 c.1076C>T c.(1075-1077)ACT>ATT p.T359I USP51_uc011moo.1_Missense_Mutation_p.T63I NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 359 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 CAGGCCTACAGTATAGACTGA 0.403 FAM123B 139285 broad.mit.edu 37 X 63412443 63412443 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:63412443T>A uc004dvo.2 - 2 997 c.724A>T c.(724-726)ACA>TCA p.T242S NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 242 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 GGTTCTGGTGTTGGAGAAACT 0.542 PJA1 64219 broad.mit.edu 37 X 68382056 68382056 + Silent SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:68382056T>C uc004dxh.2 - 2 1312 c.1026A>G c.(1024-1026)CGA>CGG p.R342R PJA1_uc011mpi.1_Silent_p.R60R|PJA1_uc004dxg.2_Silent_p.R154R|PJA1_uc004dxi.2_Silent_p.R287R NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 342 Poly-Arg. zinc ion binding 0 CCATGGTGCGTCGTCGTCTCG 0.532 TAF1 6872 broad.mit.edu 37 X 70604865 70604865 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:70604865T>A uc004dzu.3 + 14 2240 c.2189T>A c.(2188-2190)TTC>TAC p.F730Y BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.F751Y NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 730 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) ACATCTCCTTTCCTGGGTTCT 0.413 TAF1 6872 broad.mit.edu 37 X 70608209 70608209 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:70608209C>T uc004dzu.3 + 16 2598 c.2547C>T c.(2545-2547)TGC>TGT p.C849C BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.C870C|TAF1_uc004dzv.3_Silent_p.C23C NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 849 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) TAAAGCTCTGCGCTGACTTCA 0.418 RLIM 51132 broad.mit.edu 37 X 73815739 73815739 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:73815739C>T uc004ebu.2 - 3 364 c.74G>A c.(73-75)CGA>CAA p.R25Q RLIM_uc004ebw.2_Missense_Mutation_p.R25Q NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 25 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 TCGATCCAATCGGTCCATCTG 0.408 MAGT1 84061 broad.mit.edu 37 X 77131013 77131013 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:77131013G>A uc004fof.2 - 2 342 c.280C>T c.(280-282)CGT>TGT p.R94C MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Missense_Mutation_p.R94C NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 62 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 ACAAGGCGACGGAACTTGTCT 0.423 TBX22 50945 broad.mit.edu 37 X 79282759 79282759 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:79282759C>T uc010nmg.1 + 7 937 c.803C>T c.(802-804)ACG>ATG p.T268M TBX22_uc004edi.1_Missense_Mutation_p.T148M|TBX22_uc004edj.1_Missense_Mutation_p.T268M NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 268 T-box. multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 CCATAGATTACGAAACTAAAA 0.343 POU3F4 5456 broad.mit.edu 37 X 82763700 82763700 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:82763700C>T uc004eeg.2 + 1 432 c.368C>T c.(367-369)TCT>TTT p.S123F NM_000307 NP_000298 P49335 PO3F4_HUMAN POU domain, class 3, transcription factor 4 123 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 CCGAACCCGTCTATCACGTCA 0.662 KLHL4 56062 broad.mit.edu 37 X 86880677 86880677 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:86880677A>G uc004efb.2 + 6 1387 c.1205A>G c.(1204-1206)GAA>GGA p.E402G KLHL4_uc004efa.2_Missense_Mutation_p.E402G NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 402 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 CTCCTGATGGAAGCTATGAAG 0.433 GLA 2717 broad.mit.edu 37 X 100662741 100662741 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:100662741T>C uc004ehl.1 - 1 261 c.151A>G c.(151-153)ATG>GTG p.M51V HNRNPH2_uc004ehm.2_5'Flank|HNRNPH2_uc004ehn.2_5'Flank|GLA_uc011mrj.1_Missense_Mutation_p.M51V NM_000169 NP_000160 P06280 AGAL_HUMAN alpha-galactosidase A precursor 51 glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process extracellular region|Golgi apparatus|lysosome cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding 0 Agalsidase beta(DB00103) AGGTTGCACATGAAGCGCTCC 0.547 PLP1 5354 broad.mit.edu 37 X 103045491 103045491 + Missense_Mutation SNP G G A rs137966879 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:103045491G>A uc010nov.2 + 8 1079 c.799G>A c.(799-801)GTC>ATC p.V267I RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.V267I|PLP1_uc004elj.2_Missense_Mutation_p.V232I|PLP1_uc011msf.1_Missense_Mutation_p.V212I|PLP1_uc010nox.2_Missense_Mutation_p.V221I NM_001128834 NP_001122306 P60201 MYPR_HUMAN proteolipid protein 1 isoform 1 267 Cytoplasmic (Probable). cell death|synaptic transmission integral to membrane ovary(1) 1 CAACTTTGCCGTCCTTAAACT 0.488 COL4A5 1287 broad.mit.edu 37 X 107938087 107938087 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:107938087C>T uc004enz.1 + 50 4959 c.4757C>T c.(4756-4758)ACG>ATG p.T1586M COL4A5_uc011mso.1_Missense_Mutation_p.T1583M|COL4A5_uc011msp.1_Missense_Mutation_p.T262M NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 1580 Collagen IV NC1. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 CACAGTCAGACGATCCAGATT 0.448 Alport_syndrome_with_Diffuse_Leiomyomatosis IRS4 8471 broad.mit.edu 37 X 107976681 107976681 + Missense_Mutation SNP C C G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:107976681C>G uc004eoc.2 - 1 2927 c.2894G>C c.(2893-2895)GGA>GCA p.G965A NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 965 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 AAATGGCACTCCAAACTCAAC 0.468 ACSL4 2182 broad.mit.edu 37 X 108906627 108906627 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:108906627A>G uc004eoi.2 - 14 2023 c.1518T>C c.(1516-1518)GGT>GGC p.G506G ACSL4_uc004eoj.2_Silent_p.G465G|ACSL4_uc004eok.2_Silent_p.G465G|ACSL4_uc010npp.1_Silent_p.G506G NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 506 Cytoplasmic (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) TAATTGTATAACCGCCTGGAA 0.323 RGAG1 57529 broad.mit.edu 37 X 109694182 109694182 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:109694182C>T uc004eor.1 + 3 583 c.337C>T c.(337-339)CTG>TTG p.L113L RGAG1_uc011msr.1_Silent_p.L113L NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 113 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 CTCTGGGGCACTGTCCCCATT 0.537 CHRDL1 91851 broad.mit.edu 37 X 109924728 109924728 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:109924728C>T uc004eou.3 - 10 1487 c.1138G>A c.(1138-1140)GTT>ATT p.V380I CHRDL1_uc004eov.2_Missense_Mutation_p.V369I|CHRDL1_uc004eow.2_Missense_Mutation_p.V378I|CHRDL1_uc010nps.2_Missense_Mutation_p.V379I|CHRDL1_uc004eot.2_Missense_Mutation_p.V299I|CHRDL1_uc011mss.1_Missense_Mutation_p.V294I NM_001143981 NP_001137453 Q9BU40 CRDL1_HUMAN chordin-like 1 isoform 1 precursor 372 BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region 0 ATAGTCCAAACGTGGACCTCT 0.443 ALG13 79868 broad.mit.edu 37 X 110925365 110925365 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:110925365C>T uc011msy.1 + 2 121 c.87C>T c.(85-87)ATC>ATT p.I29I ALG13_uc004epi.1_Silent_p.I29I|ALG13_uc011msw.1_5'UTR|ALG13_uc011msx.1_Intron|ALG13_uc011msz.1_5'UTR|ALG13_uc011mta.1_Intron|ALG13_uc011mtb.1_5'UTR Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 29 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 TTCAGAAAATCGAGAGCCTTG 0.438 AMOT 154796 broad.mit.edu 37 X 112024224 112024224 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:112024224A>G uc004epr.2 - 9 2363 c.2363T>C c.(2362-2364)CTG>CCG p.L788P AMOT_uc004eps.2_Missense_Mutation_p.L379P|AMOT_uc011mtc.1_Missense_Mutation_p.L28P|hsa-mir-4329|MI0015901_5'Flank NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 788 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 AATGGACATCAGAGACTTCGC 0.542 WDR44 54521 broad.mit.edu 37 X 117512387 117512387 + Missense_Mutation SNP C C A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:117512387C>A uc004eqn.2 + 2 508 c.83C>A c.(82-84)CCA>CAA p.P28Q WDR44_uc004eqo.2_Missense_Mutation_p.P28Q|WDR44_uc011mtr.1_Missense_Mutation_p.P28Q NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 28 Binding activity. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 AACAGGTCTCCAGGAAAAGTT 0.318 LONRF3 79836 broad.mit.edu 37 X 118147118 118147118 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:118147118G>A uc004eqw.2 + 9 1959 c.1928G>A c.(1927-1929)CGG>CAG p.R643Q LONRF3_uc004eqx.2_Missense_Mutation_p.R602Q|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.R387Q NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 643 Lon. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 CAGAGCCAGCGGGATGGCTAC 0.498 NKRF 55922 broad.mit.edu 37 X 118724535 118724535 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:118724535G>A uc004erq.2 - 2 1506 c.853C>T c.(853-855)CGG>TGG p.R285W NKRF_uc004err.2_Missense_Mutation_p.R285W NM_017544 NP_060014 O15226 NKRF_HUMAN transcription factor NRF 285 Active repression domain. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding ovary(1)|central_nervous_system(1) 2 TTGAATTTCCGCCGGACAACT 0.483 ZBTB33 10009 broad.mit.edu 37 X 119389084 119389084 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:119389084G>A uc004esn.1 + 2 2042 c.1814G>A c.(1813-1815)AGC>AAC p.S605N ZBTB33_uc010nqm.1_Missense_Mutation_p.S605N NM_006777 NP_006768 Q86T24 KAISO_HUMAN kaiso 605 Interaction with CTNND1 (By similarity).|Required for DNA-binding (By similarity). intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GATAGATCAAGCACTATTCCT 0.413 ODZ1 10178 broad.mit.edu 37 X 123615689 123615689 + Missense_Mutation SNP T T A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:123615689T>A uc004euj.2 - 21 3885 c.3821A>T c.(3820-3822)AAG>ATG p.K1274M ODZ1_uc011muj.1_Missense_Mutation_p.K1280M|ODZ1_uc010nqy.2_Missense_Mutation_p.K1281M NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1274 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 TTCAAAATTCTTGGACAGATC 0.468 DCAF12L2 340578 broad.mit.edu 37 X 125299723 125299723 + Missense_Mutation SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:125299723G>A uc004euk.1 - 1 212 c.185C>T c.(184-186)GCG>GTG p.A62V NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 62 lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 TGGGCCCCGCGCTCCTACCTC 0.736 DCAF12L1 139170 broad.mit.edu 37 X 125685267 125685267 + Missense_Mutation SNP T T G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:125685267T>G uc004eul.2 - 1 1576 c.1325A>C c.(1324-1326)AAG>ACG p.K442T NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 442 skin(3)|ovary(1) 4 CACAAAGAGCTTCATCTCAGG 0.542 HS6ST2 90161 broad.mit.edu 37 X 131762995 131762995 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:131762995G>A uc011mve.1 - 4 1490 c.1074C>T c.(1072-1074)TCC>TCT p.S358S HS6ST2_uc011mvb.1_Silent_p.S252S|HS6ST2_uc011mvc.1_Silent_p.S212S|HS6ST2_uc011mvd.1_Silent_p.S398S|HS6ST2_uc011mva.1_Silent_p.S84S NM_147175 NP_671704 Q96MM7 H6ST2_HUMAN heparan sulfate 6-O-sulfotransferase 2 isoform 358 Lumenal (Potential). integral to membrane sulfotransferase activity 0 Acute lymphoblastic leukemia(192;0.000127) GCAGCTCTTCGGAGGTTGGAG 0.577 MAP7D3 79649 broad.mit.edu 37 X 135318440 135318440 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:135318440C>T uc004ezt.2 - 7 790 c.699G>A c.(697-699)TCG>TCA p.S233S MAP7D3_uc004ezs.2_Silent_p.S197S|MAP7D3_uc011mwc.1_Silent_p.S215S|MAP7D3_uc010nsa.1_Silent_p.S232S NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 233 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) TATCAGTAGACGAATGTAGGT 0.318 GPR101 83550 broad.mit.edu 37 X 136113787 136113787 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:136113787T>C uc011mwh.1 - 1 47 c.47A>G c.(46-48)CAC>CGC p.H16R NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 16 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) CATGCACGTGTGGCTGCTGTT 0.627 MCF2 4168 broad.mit.edu 37 X 138678734 138678734 + Missense_Mutation SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:138678734A>G uc004fau.2 - 19 2545 c.2251T>C c.(2251-2253)TCA>CCA p.S751P MCF2_uc004fav.2_Missense_Mutation_p.S767P|MCF2_uc011mwl.1_Missense_Mutation_p.S728P|MCF2_uc010nsh.1_Missense_Mutation_p.S751P|MCF2_uc011mwm.1_Missense_Mutation_p.S712P|MCF2_uc011mwn.1_Missense_Mutation_p.S896P|MCF2_uc004faw.2_Missense_Mutation_p.S811P|MCF2_uc011mwo.1_Missense_Mutation_p.S827P NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 751 PH. 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) AAACTGTATGACGGGTATCTG 0.378 MAGEC1 9947 broad.mit.edu 37 X 140993325 140993325 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:140993325C>T uc004fbt.2 + 4 421 c.135C>T c.(133-135)GAC>GAT p.D45D MAGEC1_uc010nsl.1_Translation_Start_Site NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 45 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTGAGAGCGACGACACCCTGT 0.587 HNSCC(15;0.026) AFF2 2334 broad.mit.edu 37 X 148037280 148037280 + Nonsense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:148037280C>T uc004fcp.2 + 11 2184 c.1705C>T c.(1705-1707)CAG>TAG p.Q569* AFF2_uc004fcq.2_Nonsense_Mutation_p.Q559*|AFF2_uc004fcr.2_Nonsense_Mutation_p.Q530*|AFF2_uc011mxb.1_Nonsense_Mutation_p.Q534*|AFF2_uc004fcs.2_Nonsense_Mutation_p.Q536*|AFF2_uc011mxc.1_Nonsense_Mutation_p.Q210* NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 569 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) AATGGAAGTCCAGATGAAAGT 0.488 MAMLD1 10046 broad.mit.edu 37 X 149671788 149671788 + Splice_Site SNP G G C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:149671788G>C uc004fee.1 + 5 2360 c.2284_splice c.e5+1 p.A762_splice MAMLD1_uc011mxu.1_Intron|MAMLD1_uc011mxv.1_Splice_Site_p.A737_splice|MAMLD1_uc011mxw.1_Splice_Site_p.A648_splice NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) gacgccacaggtaagtcactt 0.159 CD99L2 83692 broad.mit.edu 37 X 149983348 149983348 + Silent SNP A A G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:149983348A>G uc004fel.2 - 4 382 c.264T>C c.(262-264)GGT>GGC p.G88G CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Intron|CD99L2_uc004fen.2_Intron|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Silent_p.G88G NM_031462 NP_113650 Q8TCZ2 C99L2_HUMAN CD99 antigen-like 2 isoform E3'-E4'-E3-E4 88 Extracellular (Potential). cell adhesion cell junction|integral to membrane large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTCCTATACCCGGTTTCC 0.473 MAGEA6 4105 broad.mit.edu 37 X 151870140 151870140 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:151870140C>T uc004ffq.1 + 3 1024 c.830C>T c.(829-831)GCC>GTC p.A277V MAGEA6_uc004ffr.1_Missense_Mutation_p.A277V|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 277 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) GGTCCAAGGGCCCTCATTGAA 0.527 PDZD4 57595 broad.mit.edu 37 X 153070218 153070218 + Silent SNP G G A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:153070218G>A uc004fiz.1 - 8 1150 c.900C>T c.(898-900)GAC>GAT p.D300D PDZD4_uc004fiy.1_Silent_p.D225D|PDZD4_uc004fix.2_Silent_p.D204D|PDZD4_uc004fja.1_Silent_p.D306D|PDZD4_uc011mze.1_Silent_p.D191D NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 300 cell cortex breast(1) 1 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) TCGGGGGTTCGTCCCCCAGCA 0.662 L1CAM 3897 broad.mit.edu 37 X 153137620 153137620 + Silent SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:153137620C>T uc004fjb.2 - 4 495 c.387G>A c.(385-387)CGG>CGA p.R129R L1CAM_uc004fjc.2_Silent_p.R129R|L1CAM_uc010nuo.2_Silent_p.R124R|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Silent_p.R124R NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 129 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) CGGCCATGAGCCGGATCTCAT 0.617 RPL10 6134 broad.mit.edu 37 X 153628830 153628830 + Missense_Mutation SNP T T C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:153628830T>C uc004fkm.2 + 6 543 c.355T>C c.(355-357)TTT>CTT p.F119L uc010nuv.1_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.F119L|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.F44L NM_006013 NP_006004 P27635 RL10_HUMAN ribosomal protein L10 119 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) GCGAGGTGCCTTTGGAAAGCC 0.537 CLIC2 1193 broad.mit.edu 37 X 154507295 154507295 + Missense_Mutation SNP C C T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:154507295C>T uc004fnf.2 - 6 891 c.641G>A c.(640-642)CGT>CAT p.R214H NM_001289 NP_001280 O15247 CLIC2_HUMAN chloride intracellular channel 2 214 GST C-terminal.|C-terminal. signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity large_intestine(1)|ovary(1)|skin(1) 3 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) GTGGAGATAACGCCAGACTCC 0.403 EPPK1 83481 broad.mit.edu 37 8 144940071 144940081 + Splice_Site DEL AAAAAAAAAAC AAAAAAAAAAC - rs72444649 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:144940071_144940081delAAAAAAAAAAC uc003zaa.1 - 3 15358 c.15345_splice c.e3-1 NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 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) aagaatgacaaaaaaaaaaacaaaaaaaaaa 0.346 KIF17 57576 broad.mit.edu 37 1 21016831 21016831 + Splice_Site DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:21016830_21016830TG>T uc001bdr.4 - 7 1352 c.1234_splice c.e7-1 p.E412_splice KIF17_uc009vpx.3_Splice_Site|KIF17_uc001bds.4_Splice_Site_p.E412_splice NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. 412 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 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) TTCATACTCCTGGGGGGGTGG 0.527 PSME4 23198 broad.mit.edu 37 2 54167140 54167140 + Splice_Site DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:54167139_54167139TG>T uc002rxp.2 - 4 557 c.501_splice c.e4-1 p.N167_splice PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron NM_014614 NP_055429 Q14997 PSME4_HUMAN Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA. 167 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TCTACAGAACTGGGGGGGGAA 0.348 USP34 9736 broad.mit.edu 37 2 61577527 61577527 + Splice_Site DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:61577526_61577526TA>T uc002sbe.3 - 12 1400 c.1378_splice c.e12-1 p.T460_splice NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 460 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GTACAGTGTCTAAAAAAAAGA 0.338 SCAP 22937 broad.mit.edu 37 3 47458613 47458613 + Splice_Site DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:47458612_47458612CT>C uc003crh.1 - 18 3311 c.3056_splice c.e18+1 p.R1019_splice SCAP_uc011baz.1_Splice_Site_p.R763_splice|SCAP_uc003crg.2_Splice_Site_p.R626_splice NM_012235 NP_036367 Q12770 SCAP_HUMAN Homo sapiens SREBF chaperone (SCAP), mRNA. 1019 Interaction with SREBF2 (By similarity). R -> G (in Ref. 6; BAC11673). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CCACGCTCACCTTTTGTCCAA 0.567 TF 7018 broad.mit.edu 37 3 133494278 133494278 + Splice_Site DEL A A - rs145306578 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:133494277_133494277GA>G uc003epu.2 + 20 3416 c.1688_splice c.e20-1 p.G563_splice TF_uc011blt.2_Splice_Site_p.G436_splice|TF_uc003epw.2_Intron|TF_uc003epv.2_Splice_Site_p.G563_splice NM_001063 NP_001054 P02787 TRFE_HUMAN Homo sapiens transferrin (TF), mRNA. 563 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding p.G563E(1) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) CTGTCCCTAGGAAAAAACCCT 0.512 PLRG1 5356 broad.mit.edu 37 4 155468219 155468219 + Splice_Site DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:155468218_155468218TA>T uc003iny.3 - 4 385 c.260_splice c.e4-1 p.G87_splice PLRG1_uc003inz.3_Splice_Site_p.G87_splice|PLRG1_uc011cil.2_Splice_Site NM_002669 NP_002660 O43660 PLRG1_HUMAN Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA. 87 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) CTTCTTGTCCTAAAAAAACAC 0.308 KIAA1324L 222223 broad.mit.edu 37 7 86542523 86542523 + Splice_Site DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:86542522_86542522TA>T uc011kha.2 - 14 1917 c.1732_splice c.e14-1 p.N578_splice KIAA1324L_uc003uie.3_Splice_Site_p.N411_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.N464_splice|KIAA1324L_uc003uif.2_Splice_Site_p.N330_splice NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA. 578 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) CCGTCTATTCTAAAAAAAAGA 0.413 SLC39A4 55630 broad.mit.edu 37 8 145640283 145640283 + Splice_Site DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:145640282_145640282TG>T uc003zcq.3 - 5 905 c.805_splice c.e5-1 p.V269_splice SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'UTR|SLC39A4_uc003zcp.3_Splice_Site_p.V244_splice NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA. 269 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CAGGCATACCTGGGGGGTGGC 0.672 ZFP91 80829 broad.mit.edu 37 11 58377810 58377811 + Splice_Site INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:58377809_58377810T>TA uc001nmx.4 + 4 785 c.617_splice c.e4+2 p.S206_splice ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA. 206 Glu-rich. Missing (in Ref. 4; AAH51743). activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TGGCATTAGGTAAAAAAAACAT 0.312 SF3B2 10992 broad.mit.edu 37 11 65836146 65836146 + Splice_Site DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65836145_65836145CA>C uc001ogy.1 + 22 2657 c.2617_splice c.e22-1 p.Q873_splice PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank NM_006842 NP_006833 Q13435 SF3B2_HUMAN Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA. 873 interspecies interaction between organisms U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 CCCTATACAGCAAAAAAAACG 0.512 OREG0021094 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) DZIP1 22873 broad.mit.edu 37 13 96241464 96241464 + Splice_Site DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:96241463_96241463TA>T uc001vmk.3 - 19 2826 c.1974_splice c.e19-1 p.K658_splice DZIP1_uc001vmj.3_Splice_Site_p.K134_splice|DZIP1_uc001vml.3_Splice_Site_p.K639_splice NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 658 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TTCTTAATTCTAAAAAAACAA 0.279 C14orf149 112849 broad.mit.edu 37 14 59946072 59946072 + Splice_Site DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:59946071_59946071TA>T uc001xee.1 - 2 548 c.509_splice c.e2-1 p.D170_splice C14orf149_uc010trx.1_Intron NM_144581 NP_653182 Q96EM0 PRCM_HUMAN Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA. 170 proline racemase activity kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.14) L-Proline(DB00172) CCATGAGATCTAAAAAAAAGA 0.333 TLE2 7089 broad.mit.edu 37 19 3028804 3028804 + Splice_Site DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:3028803_3028803TG>T uc010dth.3 - 2 288 c.25_splice c.e2-1 p.T9_splice TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 9 Gln-rich. Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) GAGCGGGGTCTGGGGGGGGTG 0.622 NDRG3 57446 broad.mit.edu 37 20 35284817 35284817 + Splice_Site DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:35284816_35284816TG>T uc002xfw.3 - 15 1037 c.895_splice c.e15-1 p.P299_splice NDRG3_uc002xfx.3_Splice_Site_p.P287_splice|NDRG3_uc010zvq.2_Splice_Site_p.P204_splice|NDRG3_uc010zvr.2_Splice_Site_p.P187_splice NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA. 299 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) CTTCCCAGGCTGGGGGGATAA 0.423 SOX13 9580 broad.mit.edu 37 1 204091508 204091508 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:204091508delC uc001ham.2 + 9 1600 c.1005delC c.(1003-1005)AGCfs p.S335fs SOX13_uc010pqp.1_Frame_Shift_Del_p.S334fs|SOX13_uc010pqq.1_Frame_Shift_Del_p.S202fs NM_005686 NP_005677 Q9UN79 SOX13_HUMAN SRY-box 13 335 Pro-rich. anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) TGCAGTCCAGCCCCCCGAGCC 0.622 UBQLN3 50613 broad.mit.edu 37 11 5529402 5529402 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:5529402delA uc001may.1 - 2 1473 c.1387delT c.(1387-1389)TCCfs p.S463fs HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank NM_017481 NP_059509 Q9H347 UBQL3_HUMAN ubiquilin 3 463 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) GCCGTGGGGGAAAAAGATAAG 0.547 ILK 3611 broad.mit.edu 37 11 6629692 6629692 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:6629692delT uc001mee.2 + 4 459 c.324delT c.(322-324)TGTfs p.C108fs ILK_uc001mef.2_Frame_Shift_Del_p.C108fs|ILK_uc010rap.1_5'UTR|ILK_uc010raq.1_Frame_Shift_Del_p.C108fs|ILK_uc001meg.2_5'UTR|ILK_uc001meh.2_Frame_Shift_Del_p.C108fs|ILK_uc001mei.2_5'Flank NM_001014794 NP_001014794 Q13418 ILK_HUMAN integrin-linked kinase 108 Interaction with LIMS1.|ANK 4. cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent cytosol|focal adhesion ATP binding|protein serine/threonine kinase activity central_nervous_system(1) 1 Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152) Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163) ACTATGCCTGTTTTTGGGGCC 0.502 LTBP3 4054 broad.mit.edu 37 11 65321358 65321358 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:65321358delG uc001oej.2 - 3 947 c.678delC c.(676-678)CCCfs p.P226fs LTBP3_uc010roi.1_Frame_Shift_Del_p.P109fs|LTBP3_uc001oei.2_Frame_Shift_Del_p.P226fs|LTBP3_uc010roj.1_Intron|LTBP3_uc010rok.1_Frame_Shift_Del_p.P137fs NM_001130144 NP_001123616 Q9NS15 LTBP3_HUMAN latent transforming growth factor beta binding 226 extracellular region calcium ion binding|growth factor binding central_nervous_system(2)|lung(1) 3 CATTCACCACGGGGGGCGGGG 0.746 GRIP1 23426 broad.mit.edu 37 12 66786223 66786223 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:66786223delC uc001stk.2 - 18 2414 c.2173delG c.(2173-2175)GATfs p.D725fs GRIP1_uc010sta.1_Frame_Shift_Del_p.D669fs|GRIP1_uc001stj.2_Frame_Shift_Del_p.D507fs|GRIP1_uc001stl.1_Frame_Shift_Del_p.D617fs|GRIP1_uc001stm.2_Frame_Shift_Del_p.D725fs NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 777 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) TCCTCCACATCCCCCAGGTCA 0.517 SBNO1 55206 broad.mit.edu 37 12 123798171 123798171 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:123798171delA uc010tap.1 - 23 3216 c.3216delT c.(3214-3216)TTTfs p.F1072fs SBNO1_uc010tao.1_Frame_Shift_Del_p.F1071fs|SBNO1_uc010taq.1_Frame_Shift_Del_p.F23fs|SBNO1_uc001ues.1_Frame_Shift_Del_p.F23fs NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1072 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) AGTTACCTTTAAAAAATTCTC 0.313 FLJ10357 55701 broad.mit.edu 37 14 21550248 21550248 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:21550248delC uc001vzp.2 + 14 3250 c.3221delC c.(3220-3222)ACCfs p.T1074fs FLJ10357_uc001vzo.1_Frame_Shift_Del_p.T153fs|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_Frame_Shift_Del_p.T360fs NM_018071 NP_060541 Q8TER5 ARH40_HUMAN hypothetical protein LOC55701 1074 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) GGAGTAGGCACCCCCCGGATG 0.622 INF2 64423 broad.mit.edu 37 14 105174185 105174185 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:105174185delC uc001ypb.2 + 8 1724 c.1581delC c.(1579-1581)AGCfs p.S527fs INF2_uc010tyi.1_Frame_Shift_Del_p.S527fs|INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_RNA NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 527 actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) GCACCTGCAGCCCCCCCGTGG 0.562 CYTSB 92521 broad.mit.edu 37 17 20135668 20135668 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:20135668delG uc002gwq.2 + 7 2446 c.2301delG c.(2299-2301)CTGfs p.L767fs CYTSB_uc010cqx.2_Frame_Shift_Del_p.L767fs|CYTSB_uc002gwr.2_Frame_Shift_Del_p.L767fs|CYTSB_uc002gws.2_Frame_Shift_Del_p.L767fs|CYTSB_uc002gwv.2_Frame_Shift_Del_p.L686fs|CYTSB_uc010vzf.1_Frame_Shift_Del_p.L107fs|CYTSB_uc002gww.2_Frame_Shift_Del_p.L543fs|CYTSB_uc002gwt.2_Frame_Shift_Del_p.L686fs|CYTSB_uc002gwu.2_Frame_Shift_Del_p.L686fs NM_001033553 NP_001028725 Q5M775 CYTSB_HUMAN spectrin domain with coiled-coils 1 NSP5b3b 767 Potential. nucleus 0 AGAAGGAGCTGGGGGATGTGC 0.612 CSF3 1440 broad.mit.edu 37 17 38171995 38171995 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:38171995delC uc002htp.2 + 2 132 c.92delC c.(91-93)ACCfs p.T31fs CSF3_uc002hto.2_Frame_Shift_Del_p.T31fs|CSF3_uc002htq.2_Frame_Shift_Del_p.T27fs|CSF3_uc010wep.1_Frame_Shift_Del_p.T27fs NM_000759 NP_000750 P09919 CSF3_HUMAN colony stimulating factor 3 isoform a precursor 31 cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation extracellular space cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity ovary(1) 1 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CAGGAAGCCACCCCCCTGGGC 0.642 STRADA 92335 broad.mit.edu 37 17 61781804 61781804 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:61781804delG uc002jbm.2 - 11 1156 c.997delC c.(997-999)CGGfs p.R333fs STRADA_uc002jbn.2_Frame_Shift_Del_p.R275fs|STRADA_uc002jbo.2_Frame_Shift_Del_p.R296fs|STRADA_uc002jbp.2_Frame_Shift_Del_p.R296fs|STRADA_uc002jbq.2_Frame_Shift_Del_p.R275fs|STRADA_uc010wpq.1_Frame_Shift_Del_p.R289fs|STRADA_uc010wpr.1_Frame_Shift_Del_p.R304fs|STRADA_uc010ddw.2_Frame_Shift_Del_p.R304fs|STRADA_uc002jbr.2_3'UTR NM_001003787 NP_001003787 Q7RTN6 STRAA_HUMAN STE20-related kinase adaptor alpha isoform 1 333 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|kinase binding|protein kinase activity ovary(1) 1 TTGGAGGGCCGGGGGGTGCTG 0.647 ATP8B3 148229 broad.mit.edu 37 19 1785177 1785177 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:1785177delG uc002ltw.2 - 27 3747 c.3513delC c.(3511-3513)CCCfs p.P1171fs ATP8B3_uc002ltv.2_Frame_Shift_Del_p.P1134fs|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 1171 Extracellular (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) GGAAGGTCGTGGGGGATACTC 0.567 LENG9 94059 broad.mit.edu 37 19 54973589 54973589 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:54973589delG uc010yez.1 - 1 1306 c.1187delC c.(1186-1188)CCTfs p.P396fs NM_198988 NP_945339 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 396 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) GCTCAGCCGAGGGGGTGCATT 0.662 SPDYA 245711 broad.mit.edu 37 2 29052084 29052084 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:29052084delA uc002rmj.2 + 6 657 c.451delA c.(451-453)AAAfs p.K151fs SPDYA_uc002rmi.2_Frame_Shift_Del_p.K151fs|SPDYA_uc002rmk.2_Frame_Shift_Del_p.K151fs|SPDYA_uc002rml.2_Frame_Shift_Del_p.K151fs NM_182756 NP_877433 Q5MJ70 SPDYA_HUMAN speedy homolog A isoform 1 151 Speedy/Ringo box; Required for CDK- binding (By similarity). G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus nucleus protein kinase binding upper_aerodigestive_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) GGCTTTAGGGAAAAACTGGAG 0.338 EIF5B 9669 broad.mit.edu 37 2 99976805 99976805 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:99976805delA uc002tab.2 + 2 326 c.142delA c.(142-144)AAAfs p.K48fs NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 48 Poly-Lys. regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 GAAAAAAGAGAAAAAAAAGCA 0.338 EIF5B 9669 broad.mit.edu 37 2 99977878 99977878 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:99977878delA uc002tab.2 + 4 698 c.514delA c.(514-516)AAAfs p.K172fs NM_015904 NP_056988 O60841 IF2P_HUMAN eukaryotic translation initiation factor 5B 172 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity ovary(2)|pancreas(1) 3 GGATAACAGTAAAAAAATTAA 0.323 UPP2 151531 broad.mit.edu 37 2 158980303 158980303 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:158980303delA uc002tzp.2 + 6 901 c.707delA c.(706-708)GAAfs p.E236fs UPP2_uc002tzo.2_Frame_Shift_Del_p.E293fs NM_173355 NP_775491 O95045 UPP2_HUMAN uridine phosphorylase 2 isoform a 236 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity 0 TTTTCCAGAGAAAAAAAGTTA 0.468 LRRN4 164312 broad.mit.edu 37 20 6025207 6025208 + Frame_Shift_Del DEL TT TT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:6025207_6025208delTT uc002wmo.2 - 4 1203_1204 c.979_980delAA c.(979-981)AAGfs p.K327fs NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 327 Extracellular (Potential). integral to membrane skin(3) 3 GACAGTTCTCTTTGCATCCGTG 0.520 OSBP2 23762 broad.mit.edu 37 22 31289928 31289930 + In_Frame_Del DEL AGC AGC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:31289928_31289930delAGC uc003aiy.1 + 12 2419_2421 c.2315_2317delAGC c.(2314-2319)AAGCAG>AAG p.Q773del OSBP2_uc011ala.1_In_Frame_Del_p.Q607del|OSBP2_uc010gwc.1_In_Frame_Del_p.Q600del|OSBP2_uc011alb.1_In_Frame_Del_p.Q724del|OSBP2_uc003aiz.1_In_Frame_Del_p.Q772del|OSBP2_uc003aja.1_In_Frame_Del_p.Q406del|OSBP2_uc011alc.1_In_Frame_Del_p.Q515del|OSBP2_uc003ajb.2_In_Frame_Del_p.Q318del|OSBP2_uc011ald.1_In_Frame_Del_p.Q317del|OSBP2_uc010gwd.1_Intron NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 773 lipid transport membrane lipid binding breast(1)|skin(1) 2 TCTGACGGGAAGCAGAAGACAGT 0.611 PNPLA5 150379 broad.mit.edu 37 22 44285694 44285694 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:44285694delG uc003beg.2 - 3 574 c.477delC c.(475-477)CCCfs p.P159fs PNPLA5_uc011aqc.1_Frame_Shift_Del_p.R34fs|PNPLA5_uc003beh.2_Intron NM_138814 NP_620169 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 159 Patatin. lipid catabolic process hydrolase activity 0 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) CTCTGAACTCGGGGGGGATCA 0.552 SCAP 22937 broad.mit.edu 37 3 47459816 47459816 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:47459816delG uc003crh.1 - 15 2581 c.2326delC c.(2326-2328)CTCfs p.L776fs SCAP_uc011baz.1_Frame_Shift_Del_p.L521fs|SCAP_uc003crg.2_Frame_Shift_Del_p.L384fs NM_012235 NP_036367 Q12770 SCAP_HUMAN SREBF chaperone protein 776 Interaction with SREBF2 (By similarity).|Cytoplasmic (By similarity).|WD 1. cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CTCACCATGAGGTGGCCGCGC 0.716 ZBTB49 166793 broad.mit.edu 37 4 4304473 4304473 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:4304473delA uc003ghu.2 + 3 1085 c.910delA c.(910-912)AAAfs p.K304fs ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Frame_Shift_Del_p.K4fs NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GATGAGGCTCAAAAAGGCCAT 0.488 KLF3 51274 broad.mit.edu 37 4 38690460 38690460 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:38690460delA uc003gth.3 + 3 644 c.312delA c.(310-312)ATAfs p.I104fs KLF3_uc003gtg.2_Frame_Shift_Del_p.I104fs NM_016531 NP_057615 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 104 Pro-rich. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|lung(1) 2 GCCCACCGATAAAAAAATACT 0.617 IBTK 25998 broad.mit.edu 37 6 82891683 82891683 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:82891683delT uc003pjl.1 - 26 4165 c.3638delA c.(3637-3639)AAGfs p.K1213fs IBTK_uc011dyu.1_Frame_Shift_Del_p.K164fs|IBTK_uc011dyv.1_Frame_Shift_Del_p.K1198fs|IBTK_uc011dyw.1_Frame_Shift_Del_p.K1012fs|IBTK_uc010kbi.1_Frame_Shift_Del_p.K907fs NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 1213 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) AGTAACAGACTTTTTTTCTTC 0.343 ABCA13 154664 broad.mit.edu 37 7 48317774 48317774 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:48317774delT uc003toq.2 + 18 7008 c.6983delT c.(6982-6984)ATTfs p.I2328fs NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2328 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTGATGAACATTTTTTCAAGT 0.274 GIMAP7 168537 broad.mit.edu 37 7 150217889 150217889 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:150217889delT uc003whk.2 + 2 957 c.827delT c.(826-828)GTTfs p.V276fs NM_153236 NP_694968 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 276 GTP binding pancreas(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTTAAAGATGTTTTTAATAGG 0.239 EPPK1 83481 broad.mit.edu 37 8 144940071 144940081 + Splice_Site DEL AAAAAAAAAAC AAAAAAAAAAC - rs72444649 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:144940071_144940081delAAAAAAAAAAC uc003zaa.1 - 3 15358 c.15345_splice c.e3-1 NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 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) aagaatgacaaaaaaaaaaacaaaaaaaaaa 0.346 KIAA1539 80256 broad.mit.edu 37 9 35108148 35108148 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:35108148delC uc003zwl.2 - 3 449 c.124delG c.(124-126)GCGfs p.A42fs KIAA1539_uc003zwm.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwn.2_5'UTR|KIAA1539_uc003zwo.2_Frame_Shift_Del_p.A42fs|KIAA1539_uc003zwp.1_Frame_Shift_Del_p.A42fs|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) GGGGATGTCGCCCCCCCTGCT 0.657 FAM69B 138311 broad.mit.edu 37 9 139616704 139616704 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:139616704delG uc004cik.2 + 4 528 c.434delG c.(433-435)CGGfs p.R145fs FAM69B_uc004cil.2_Frame_Shift_Del_p.R58fs|SNHG7_uc004cim.2_RNA NM_152421 NP_689634 Q5VUD6 FA69B_HUMAN hypothetical protein LOC138311 145 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) AAGCCCACCCGGGGCACCTCC 0.617 PLCH2 9651 broad.mit.edu 37 1 2428286 2428288 + In_Frame_Del DEL GTC GTC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:2428285_2428287TGTC>T uc001aji.1 + 14 2223_2225 c.1949_1951TGTC>T c.(1948-1953)gtgtcg>gTcg p.S652del PLCH2_uc010nyz.2_In_Frame_Del_p.S441del|PLCH2_uc009vle.1_In_Frame_Del_p.S441del|PLCH2_uc001ajj.1_In_Frame_Del_p.S441del|PLCH2_uc001ajk.1_In_Frame_Del_p.S441del|PLCH2_uc001ajl.1_5'Flank NM_014638 NP_055453 O75038 PLCH2_HUMAN Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA. 653 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) AGCTGGCAGGTGTCGTCCTTCAG 0.665 CLCN6 1185 broad.mit.edu 37 1 11893605 11893605 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:11893604_11893604AT>A uc001ate.4 + 13 1394 c.1281_1281AT>A c.(1279-1281)acafs p.T427fs CLCN6_uc010oat.2_Frame_Shift_Del_p.T143fs|CLCN6_uc010oau.2_Frame_Shift_Del_p.T405fs NM_001286 NP_001277 P51797 CLCN6_HUMAN Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA. 427 cell volume homeostasis|signal transduction endosome membrane|integral to membrane ATP binding|antiporter activity|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 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;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GTATCAAGACATTTTTTTGTC 0.458 CLCNKA 1187 broad.mit.edu 37 1 16378297 16378297 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:16378296_16378296AG>A uc001axx.4 + 13 1525 c.1389_1389AG>A c.(1387-1389)ccafs p.P463fs CLCNKA_uc021ogl.1_Frame_Shift_Del_p.P110fs|CLCNKA_uc021ogm.1_Frame_Shift_Del_p.P294fs|CLCNKA_uc001axy.4_Frame_Shift_Del_p.P294fs NM_000085 NP_000076 P51800 CLCKA_HUMAN Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA. 463 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 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) CCATCATGCCAGGGGGGTATG 0.622 KIF17 57576 broad.mit.edu 37 1 21016831 21016831 + Splice_Site DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:21016830_21016830TG>T uc001bdr.4 - 7 1352 c.1234_splice c.e7-1 p.E412_splice KIF17_uc009vpx.3_Splice_Site|KIF17_uc001bds.4_Splice_Site_p.E412_splice NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. 412 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 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) TTCATACTCCTGGGGGGGTGG 0.527 TMEM57 55219 broad.mit.edu 37 1 25785186 25785186 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:25785185_25785185CA>C uc001bkk.3 + 5 1158 c.956_956CA>C c.(955-957)tcafs p.S319fs TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN Homo sapiens transmembrane protein 57 (TMEM57), mRNA. 319 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) ACTGCTTCCTCAAAAAATTAC 0.368 RPA2 6118 broad.mit.edu 37 1 28240614 28240614 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:28240613_28240613GC>G uc001bpe.1 - 1 360 c.78_78GC>C c.(76-78)ggcfs p.G26fs RPA2_uc010ofp.1_5'UTR NM_002946 NP_002937 P15927 RFA2_HUMAN Homo sapiens replication protein A2, 32kDa (RPA2), mRNA. 26 Gly/Ser-rich. DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor A complex|PML body protein phosphatase binding|single-stranded DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1) 11 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649) GCGATCCAAAGCCCCCCGGGG 0.512 Direct reversal of damage;Nucleotide excision repair (NER) TINAGL1 64129 broad.mit.edu 37 1 32043047 32043047 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:32043046_32043046TC>T uc001bta.3 + 1 423 c.297_297TC>T c.(295-297)tttfs p.F99fs TINAGL1_uc010ogi.1_Frame_Shift_Del_p.F99fs|TINAGL1_uc010ogj.2_Frame_Shift_Del_p.F99fs|TINAGL1_uc010ogk.1_Frame_Shift_Del_p.F99fs|TINAGL1_uc021oko.1_5'Flank NM_022164 NP_001191344 Q9GZM7 TINAL_HUMAN Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA. 99 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) CACCCCCTTTTCCCCCGATCC 0.592 NCDN 23154 broad.mit.edu 37 1 36026171 36026171 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:36026170_36026170CG>C uc001bza.3 + 3 545 c.418_418CG>C c.(418-420)cggfs p.R140fs KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Frame_Shift_Del_p.R140fs|NCDN_uc001bzc.3_Frame_Shift_Del_p.R123fs NM_001014839 NP_001014841 Q9UBB6 NCDN_HUMAN Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA. 140 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCTCACAGCCCGGGGGGACCC 0.632 THRAP3 9967 broad.mit.edu 37 1 36754831 36754832 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:36754830_36754831C>CG uc001cae.4 + 4 1434_1435 c.1210_1211C>CG c.(1210-1212)cggfs p.R404fs THRAP3_uc001caf.4_Frame_Shift_Ins_p.R404fs|THRAP3_uc001cag.1_Frame_Shift_Ins_p.R404fs NM_005119 NP_005110 Q9Y2W1 TR150_HUMAN Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA. 404 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding p.R404W(2)|p.R404L(2) breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAAGCCTTTTCGGGGCAGTCAG 0.426 T USP6 aneurysmal bone cysts EPHA10 284656 broad.mit.edu 37 1 38185238 38185238 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:38185237_38185237TG>T uc009vvi.3 - 14 2691 c.2605_2605CA>A c.(2605-2607)aggfs p.R869fs EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript NM_001099439 NP_001092909 Q5JZY3 EPHAA_HUMAN Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA. 869 Protein kinase. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGACAGTTCCTGGGGGGTGGC 0.612 KIAA0754 643314 broad.mit.edu 37 1 39877464 39877464 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:39877463_39877463AT>A uc009vvt.1 + 0 2288 c.1526_1526AT>A c.(1525-1527)catfs p.H509fs MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN Homo sapiens KIAA0754 (KIAA0754), mRNA. 373 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) 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) GTAATTAGTCATTTTTCAGGG 0.393 GLIS1 148979 broad.mit.edu 37 1 53980428 53980429 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:53980427_53980428T>TG uc001cvr.1 - 6 1795_1796 c.1228_1229A>CA c.(1228-1230)catfs p.H410fs NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA. 410 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 endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4) 24 AAGTCCGTTATGGGGGGTGATG 0.614 TMEM48 55706 broad.mit.edu 37 1 54291559 54291559 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:54291558_54291558GA>G uc001cvs.3 - 4 798 c.507_507TC>C c.(505-507)ttcfs p.F169fs TMEM48_uc010onu.2_Frame_Shift_Del_p.F129fs|TMEM48_uc001cvt.3_Frame_Shift_Del_p.F46fs|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR NM_018087 NP_060557 Q9BTX1 NDC1_HUMAN Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA. 169 mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 CAGTCAGTAGGAAAAAAAGAT 0.373 DOCK7 85440 broad.mit.edu 37 1 62939733 62939733 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:62939732_62939732GA>G uc001daq.3 - 46 6134 c.6100_6100TC>C c.(6100-6102)ctgfs p.L2034fs DOCK7_uc001dan.3_Frame_Shift_Del_p.L1897fs|DOCK7_uc001dao.3_Frame_Shift_Del_p.L1895fs|DOCK7_uc001dap.3_Frame_Shift_Del_p.L2014fs|DOCK7_uc001dam.3_Frame_Shift_Del_p.L1216fs|DOCK7_uc010oov.1_Frame_Shift_Del_p.L775fs|DOCK7_uc001dar.1_Frame_Shift_Del_p.L208fs NM_033407 NP_212132 Q96N67 DOCK7_HUMAN Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA. 2045 DHR-2. 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|Rac GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 ATTTCAGACAGAAAAACCTGG 0.358 GNG12 55970 broad.mit.edu 37 1 68171151 68171151 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:68171150_68171150GT>G uc001dea.2 - 3 408 c.203_203AC>C c.(202-204)actfs p.T68fs NM_018841 NP_061329 Q9UBI6 GBG12_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA. 68 G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission heterotrimeric G-protein complex signal transducer activity lung(3) 3 GATGATGCAAGTTTTTTTATC 0.433 LRRIQ3 127255 broad.mit.edu 37 1 74648381 74648381 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:74648380_74648380CT>C uc001dfy.4 - 2 607 c.415_415AG>G c.(415-417)ggafs p.G139fs LRRIQ3_uc001dfz.4_Non-coding_Transcript NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 139 LRRCT. p.G139*(2) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TGTCTATATCCTTTTTTAAGG 0.378 AK5 26289 broad.mit.edu 37 1 77806069 77806069 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:77806068_77806068AC>A uc001dhn.3 + 5 1043 c.706_706AC>A c.(706-708)accfs p.T236fs AK5_uc001dho.3_Frame_Shift_Del_p.T210fs NM_174858 NP_036225 Q9Y6K8 KAD5_HUMAN Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA. 236 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol ATP binding|adenylate kinase activity|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 ACAGATCTGTACCCCCGATTT 0.463 GBP3 2635 broad.mit.edu 37 1 89478904 89478905 + Frame_Shift_Del DEL TA TA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:89478903_89478904TTA>T uc001dmt.3 - 5 1037_1038 c.832_833TAA>A c.(832-834)aaafs p.K278fs GBP3_uc010oss.2_Frame_Shift_Del_p.K199fs|GBP3_uc001dmu.3_Frame_Shift_Del_p.K144fs|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Frame_Shift_Del_p.K278fs NM_018284 NP_060754 Q9H0R5 GBP3_HUMAN Homo sapiens guanylate binding protein 3 (GBP3), mRNA. 278 integral to membrane GTP binding|GTPase activity breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) TGAAAGAGTTTTAGTTTTGGAA 0.446 EPHX4 253152 broad.mit.edu 37 1 92511122 92511123 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:92511121_92511122T>TG uc001don.2 + 3 612_613 c.508_509T>TG c.(508-510)tggfs p.W170fs NM_173567 NP_775838 Q8IUS5 EPHX4_HUMAN Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA. 170 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 TGGCCATGACTGGGGGGGCATG 0.386 AGL 178 broad.mit.edu 37 1 100378028 100378029 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:100378027_100378028C>CA uc001dsi.1 + 28 4303_4304 c.3903_3904C>CA c.(3901-3906)tccaaafs p.S1301fs AGL_uc001dsj.1_Frame_Shift_Ins_p.S1301fs|AGL_uc001dsk.1_Frame_Shift_Ins_p.S1301fs|AGL_uc001dsl.1_Frame_Shift_Ins_p.S1301fs|AGL_uc001dsm.1_Frame_Shift_Ins_p.S1285fs|AGL_uc001dsn.1_Frame_Shift_Ins_p.S1284fs NM_000642 NP_000635 P35573 GDE_HUMAN Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA. 1301 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 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 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) TGGAATTATCCAAAAAAAATAT 0.322 C1orf88 128344 broad.mit.edu 37 1 111892836 111892836 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:111892835_111892835TA>T uc001eaw.2 + 4 577 c.497_497TA>T c.(496-498)ctafs p.L166fs C1orf88_uc001eax.2_Frame_Shift_Del_p.L133fs|C1orf88_uc009wge.1_Frame_Shift_Del_p.P89fs NM_181643 NP_857594 Q8TCI5 CA088_HUMAN Homo sapiens chromosome 1 open reading frame 88 (C1orf88), mRNA. 166 breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3) 14 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) AAAAGAACCCTAAAAGCTGAG 0.423 EFNA3 1944 broad.mit.edu 37 1 155041388 155041388 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:155041387_155041387AG>A uc001fhd.3 + 3 615 c.528_528AG>A c.(526-528)cgafs p.R176fs EFNA3_uc010pew.2_Intron|EFNA3_uc001fhc.3_Intron|EFNA3_uc001fhe.3_Intron NM_005227 NP_005218 P52797 EFNA3_HUMAN Homo sapiens ephrin-A4 (EFNA4), transcript variant 1, mRNA. 72 cell-cell signaling anchored to membrane|integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2) 5 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193) CAGGGTGGCGAGGGGGGGACA 0.577 FAM189B 10712 broad.mit.edu 37 1 155223469 155223470 + Frame_Shift_Del DEL GT GT - rs147288480 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:155223468_155223469AGT>A uc001fjm.3 - 4 1174_1175 c.568_569ACT>T c.(568-570)ctcfs p.L190fs FAM189B_uc009wql.3_5'Flank|FAM189B_uc001fjn.3_Frame_Shift_Del_p.L94fs|FAM189B_uc001fjo.3_Frame_Shift_Del_p.L171fs|FAM189B_uc001fjp.3_Non-coding_Transcript|FAM189B_uc001fjq.1_Frame_Shift_Del_p.L190fs NM_006589 NP_006580 P81408 F189B_HUMAN Homo sapiens family with sequence similarity 189, member B (FAM189B), transcript variant 1, mRNA. 190 integral to membrane WW domain binding breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 AATAGCAGAGAGTGTACAGATT 0.574 C1orf114 57821 broad.mit.edu 37 1 169364416 169364416 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:169364415_169364415AT>A uc001gga.1 - 5 1568 c.1400_1400AT>T c.(1399-1401)atgfs p.M467fs BLZF1_uc001gfy.3_Intron|C1orf114_uc001gfz.1_Frame_Shift_Del_p.M466fs|C1orf114_uc009wvq.1_Frame_Shift_Del_p.M466fs NM_021179 NP_067002 Q5TID7 CA114_HUMAN Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA. 467 p.M466fs*12(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3) 22 all_hematologic(923;0.208) TTGCTCTGCCATTTTTTCCAT 0.408 ABL2 27 broad.mit.edu 37 1 179077894 179077894 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:179077893_179077893AT>A uc001gmj.4 - 11 2796 c.2509_2509AT>T c.(2509-2511)tcafs p.S837fs ABL2_uc010pnf.2_Frame_Shift_Del_p.S734fs|ABL2_uc010png.2_Frame_Shift_Del_p.S713fs|ABL2_uc010pnh.2_Frame_Shift_Del_p.S816fs|ABL2_uc001gmg.4_Frame_Shift_Del_p.S719fs|ABL2_uc001gmi.4_Frame_Shift_Del_p.S822fs|ABL2_uc010pne.2_Frame_Shift_Del_p.S698fs NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 837 F-actin-binding (By similarity). axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CTTTCCTCTGATTTTTTTGGA 0.522 T ETV6 AML HMCN1 83872 broad.mit.edu 37 1 185704144 185704144 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:185704143_185704143CT>C uc001grq.1 + 0 461 c.232_232CT>C c.(232-234)cttfs p.L78fs NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 78 VWFA. response to stimulus|visual perception basement membrane calcium ion binding p.P77T(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TAAAAGACCTCTTTTCAACTT 0.373 CR2 1380 broad.mit.edu 37 1 207648182 207648182 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:207648181_207648181AC>A uc001hfw.3 + 12 2278 c.2159_2159AC>A c.(2158-2160)cacfs p.H720fs CR2_uc001hfv.3_Frame_Shift_Del_p.H779fs|CR2_uc009xch.3_Frame_Shift_Del_p.H720fs NM_001877 NP_001868 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA. 720 Sushi 12. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 ATTCACTGTCACCCTCCACCA 0.423 CDC42BPA 8476 broad.mit.edu 37 1 227259974 227259976 + In_Frame_Del DEL TTC TTC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:227259973_227259975GTTC>G uc001hqr.3 - 19 3704_3706 c.2761_2763GAAC>C c.(2761-2763)aac>C p.N921del CDC42BPA_uc001hqq.3_In_Frame_Del_p.N185del|CDC42BPA_uc001hqs.3_In_Frame_Del_p.N840del|CDC42BPA_uc009xes.3_In_Frame_Del_p.N921del|CDC42BPA_uc010pvs.2_In_Frame_Del_p.N921del|CDC42BPA_uc001hqp.3_In_Frame_Del_p.N77del|CDC42BPA_uc001hqu.1_In_Frame_Del_p.N77del NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA. 921 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 NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GTAGTTCCAAGTTCTTCTTCTCT 0.374 OBSCN 84033 broad.mit.edu 37 1 228562316 228562318 + In_Frame_Del DEL TCC TCC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:228562315_228562317GTCC>G uc009xez.1 + 96 22569_22571 c.22525_22527GTCC>G c.(22525-22527)gtc>G p.V7509del OBSCN_uc001hsr.1_In_Frame_Del_p.V2138del NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 7509 Ig-like 55. 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 M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CAGCAGCCGTGTCCTCATCTCTG 0.611 CAPN9 10753 broad.mit.edu 37 1 230903351 230903351 + Frame_Shift_Del DEL G G - rs3828126 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:230903350_230903350TG>T uc001htz.1 + 4 713 c.600_600TG>T c.(598-600)actfs p.T200fs CAPN9_uc009xfg.1_Frame_Shift_Del_p.T137fs|CAPN9_uc001hua.1_Frame_Shift_Del_p.T200fs NM_006615 NP_006606 O14815 CAN9_HUMAN Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA. 200 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) AAGACTTCACTGGGGGTGTGG 0.552 HEATR1 55127 broad.mit.edu 37 1 236737616 236737616 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:236737615_236737615CA>C uc001hyd.2 - 23 3498 c.3346_3346TG>G c.(3346-3348)gcafs p.A1116fs HEATR1_uc009xgh.2_Frame_Shift_Del_p.A278fs NM_018072 NP_060542 Q9H583 HEAT1_HUMAN Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA. 1116 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GATATGGCTGCAAAAAATGGT 0.343 EXO1 9156 broad.mit.edu 37 1 242042268 242042269 + Frame_Shift_Del DEL AC AC - rs138859903 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr1:242042267_242042268AAC>A uc021plj.1 + 10 2045_2046 c.1731_1732AAC>A c.(1729-1734)gcaacafs p.A577fs EXO1_uc001hzh.3_Frame_Shift_Del_p.A577fs|EXO1_uc009xgq.3_Frame_Shift_Del_p.A576fs|EXO1_uc021plk.1_Frame_Shift_Del_p.A577fs NM_006027 NP_569082 Q9UQ84 EXO1_HUMAN Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA. 577 meiosis|mismatch repair nucleus double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 45 Ovarian(103;0.103) all_cancers(173;0.0555) OV - Ovarian serous cystadenocarcinoma(106;0.0107) CAGACAAGGCAACAGTGTTTAC 0.406 Editing and processing nucleases RAD51AP2 729475 broad.mit.edu 37 2 17698737 17698737 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:17698736_17698736GT>G uc002rcl.1 - 0 971 c.947_947AC>C c.(946-948)actfs p.T316fs RAD51AP2_uc010exn.1_Frame_Shift_Del_p.T307fs NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA. 316 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CGCTTCTACAGTTTTTTTATC 0.328 NCOA1 8648 broad.mit.edu 37 2 24991211 24991211 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:24991210_24991210AC>A uc002rfk.3 + 20 4535 c.4276_4276AC>A c.(4276-4278)accfs p.T1426fs NCOA1_uc010eye.3_3'UTR|NCOA1_uc002rfi.3_3'UTR|NCOA1_uc002rfj.3_3'UTR|NCOA1_uc002rfl.3_Frame_Shift_Del_p.T1425fs|NCOA1_uc010eyf.3_3'UTR NM_003743 NP_003734 Q15788 NCOA1_HUMAN Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA. 1426 PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGACCACAGACCCCCCAGGC 0.493 T PAX3 alveolar rhadomyosarcoma MAPRE3 22924 broad.mit.edu 37 2 27248517 27248518 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:27248516_27248517G>GC uc002rhw.3 + 4 688_689 c.535_536G>GC c.(535-537)gccfs p.A179fs NM_012326 NP_036458 Q9UPY8 MARE3_HUMAN Homo sapiens microtubule-associated protein, RP/EB family, member 3 (MAPRE3), mRNA. 179 cell division|mitosis|positive regulation of transcription, DNA-dependent cytoplasm|cytoplasmic microtubule|microtubule|midbody|perinuclear region of cytoplasm microtubule binding|protein binding|small GTPase regulator activity p.C182fs*16(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGCAATGTGGCCCCCCCCTGC 0.564 RHOQ 23433 broad.mit.edu 37 2 46808174 46808174 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:46808173_46808173TA>T uc002rva.3 + 4 888 c.569_569TA>T c.(568-570)gtafs p.V190fs BC048424_uc002rvb.3_5'Flank NM_012249 NP_036381 P17081 RHOQ_HUMAN Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA. 190 cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction actin filament|cytosol|plasma membrane GBD domain binding|GTP binding|GTPase activity|profilin binding skin(2) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) AAACACACTGTAAAAAAAAGA 0.368 MSH6 2956 broad.mit.edu 37 2 48030640 48030641 + Frame_Shift_Ins INS - - CC rs63749866 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:48030639_48030640A>ACC uc002rwd.4 + 4 3405_3406 c.3253_3254A>ACC c.(3253-3255)accfs p.T1085fs MSH6_uc010fbj.3_Frame_Shift_Ins_p.T783fs|MSH6_uc010yoj.2_Frame_Shift_Ins_p.T783fs NM_000179 NP_000170 P52701 MSH6_HUMAN Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA. 1085 DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|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 p.0?(2)|p.F1088fs*5(1)|p.F1088fs*2(1) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GCCGGAAGATACCCCCCCCTTC 0.436 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome FOXN2 3344 broad.mit.edu 37 2 48602092 48602092 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:48602091_48602091CA>C uc002rwh.1 + 6 1120 c.805_805CA>C c.(805-807)caafs p.Q269fs NM_002158 NP_002149 P32314 FOXN2_HUMAN Homo sapiens forkhead box N2 (FOXN2), mRNA. 269 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 endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 13 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) AACAGCATTGCAAAAAAAGAG 0.383 RANBP2 5903 broad.mit.edu 37 2 109379723 109379723 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:109379722_109379722AC>A uc002tem.4 + 19 2853 c.2727_2727AC>A c.(2725-2727)ccafs p.P909fs NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 909 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATAGGCTTCCACCCCAACAGC 0.423 RANBP2 5903 broad.mit.edu 37 2 109380873 109380873 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:109380872_109380872CT>C uc002tem.4 + 19 4003 c.3877_3877CT>C c.(3877-3879)cttfs p.L1293fs NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 1293 RanBD1 1. carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GGAAGCAGCACTTTTTAAATG 0.413 SPOPL 339745 broad.mit.edu 37 2 139318409 139318410 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:139318408_139318409G>GT uc002tvh.3 + 7 1148_1149 c.748_749G>GT c.(748-750)gttfs p.V250fs NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA. 250 BTB. nucleus breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2) 21 BRCA - Breast invasive adenocarcinoma(221;0.0296) AGACCCTGAAGTTTTTAAAGAA 0.332 NEB 4703 broad.mit.edu 37 2 152410393 152410393 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:152410392_152410392CG>C uc021vrb.1 - 96 14502 c.14473_14473CG>G c.(14473-14475)gacfs p.D4825fs NEB_uc002txr.3_Frame_Shift_Del_p.D1291fs|NEB_uc002txu.3_Frame_Shift_Del_p.D6526fs|NEB_uc021vrc.1_Frame_Shift_Del_p.D6526fs|NEB_uc010fnx.3_Frame_Shift_Del_p.D4813fs|NEB_uc021vrd.1_Frame_Shift_Del_p.D4825fs NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 4825 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle p.P4824P(1) NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACTTGCAAGTCGGGGTGGCAA 0.547 XIRP2 129446 broad.mit.edu 37 2 168106361 168106361 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:168106360_168106360GA>G uc002udx.3 + 8 8547 c.8458_8458GA>G c.(8458-8460)gaafs p.E2820fs XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Del_p.E2645fs|XIRP2_uc010fpq.3_Frame_Shift_Del_p.E2598fs|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2645 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGAAGTGAAGAAAAAAATCA 0.398 ITGA6 3655 broad.mit.edu 37 2 173335733 173335733 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:173335732_173335732CT>C uc002uhp.1 + 4 877 c.674_674CT>C c.(673-675)actfs p.T225fs ITGA6_uc010fqk.1_Frame_Shift_Del_p.T111fs|ITGA6_uc010zdy.1_Intron|ITGA6_uc002uho.1_Frame_Shift_Del_p.T225fs|ITGA6_uc010fql.2_Non-coding_Transcript NM_001079818 NP_001073286 P23229 ITA6_HUMAN Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA. 225 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) AAGAATAACACTTTTTTTGAC 0.343 TTN 7273 broad.mit.edu 37 2 179414065 179414069 + Frame_Shift_Del DEL CTTTT CTTTT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:179414064_179414068GCTTTT>G uc021vsy.1 - 287 84806_84810 c.84581_84585AAAAGC>C c.(84580-84585)aaaagcfs p.K28194fs MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.K21889fs|TTN_uc021vta.1_Frame_Shift_Del_p.K21822fs|TTN_uc021vtb.1_Frame_Shift_Del_p.K21697fs NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 29121 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) CCCATCTTGTGCTTTTCTTTTCTCT 0.420 ANKRD44 91526 broad.mit.edu 37 2 197860118 197860119 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:197860117_197860118A>AT uc021vuj.1 - 25 3009_3010 c.2816_2817T>AT c.(2815-2817)aatfs p.N939fs ANKRD44_uc002utz.4_Frame_Shift_Ins_p.N646fs|ANKRD44_uc021vuk.1_Frame_Shift_Ins_p.N914fs NM_001195144 NP_001182073 Q8N8A2 ANR44_HUMAN Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA. 939 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) GCAGTGCATTATTTTTTTCATT 0.351 CASP8 841 broad.mit.edu 37 2 202149961 202149962 + Frame_Shift_Del DEL TG TG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:202149960_202149961CTG>C uc002uxr.1 + 8 1433_1434 c.1224_1225CTG>C c.(1222-1227)aactgtfs p.N408fs CASP8_uc002uxq.1_Frame_Shift_Del_p.N393fs|CASP8_uc002uxp.1_Frame_Shift_Del_p.N425fs|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Frame_Shift_Del_p.N467fs|CASP8_uc002uxw.1_Frame_Shift_Del_p.N393fs|CASP8_uc010ftf.2_Frame_Shift_Del_p.N324fs NM_033355 NP_203519 Q14790 CASP8_HUMAN Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA. 408 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 CTGTGAATAACTGTGTTTCCTA 0.495 HNSCC(4;0.00038) SPAG16 79582 broad.mit.edu 37 2 214727284 214727284 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:214727283_214727283CA>C uc002veq.3 + 10 1237 c.1145_1145CA>C c.(1144-1146)ccafs p.P382fs SPAG16_uc010fuz.2_Frame_Shift_Del_p.P233fs|SPAG16_uc002ver.3_Frame_Shift_Del_p.P328fs|SPAG16_uc010zjk.2_Frame_Shift_Del_p.P288fs NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA. 382 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 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) TTGGGCCTTCCAAAATGCAAT 0.527 SMARCAL1 50485 broad.mit.edu 37 2 217280119 217280119 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:217280118_217280118CA>C uc002vgc.4 + 2 1021 c.691_691CA>C c.(691-693)caafs p.Q231fs SMARCAL1_uc002vgd.4_Frame_Shift_Del_p.Q231fs|SMARCAL1_uc010fvg.3_Frame_Shift_Del_p.Q231fs NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA. 231 DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 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) GTCCTCAGTCCAAAAAGGAGT 0.498 Schimke Immuno-Osseous Dysplasia SPEG 10290 broad.mit.edu 37 2 220326765 220326765 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:220326764_220326764AC>A uc010fwg.3 + 6 2601 c.2601_2601AC>A c.(2599-2601)gcafs p.A867fs SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Frame_Shift_Del_p.A75fs|SPEG_uc002vln.1_Frame_Shift_Del_p.A75fs|SPEG_uc002vlp.1_Frame_Shift_Del_p.A75fs|SPEG_uc002vlq.3_Frame_Shift_Del_p.A18fs NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 867 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 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) GCTCCAAGGCACCCCCCACCT 0.652 DGKD 8527 broad.mit.edu 37 2 234365952 234365952 + Frame_Shift_Del DEL G G - rs35538077 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:234365951_234365951TG>T uc002vui.1 + 20 2569 c.2557_2557TG>T c.(2557-2559)tggfs p.W853fs DGKD_uc002vuj.1_Frame_Shift_Del_p.W809fs|DGKD_uc010fyh.1_Frame_Shift_Del_p.W720fs|DGKD_uc010fyi.1_Non-coding_Transcript NM_152879 NP_690618 Q16760 DGKD_HUMAN Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA. 853 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 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;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) AACCAACTTCTGGGGGGGTAC 0.577 HDAC4 9759 broad.mit.edu 37 2 240066299 240066299 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr2:240066298_240066298CT>C uc002vyk.4 - 7 1638 c.846_846AG>G c.(844-846)aagfs p.K282fs HDAC4_uc010fyz.1_Frame_Shift_Del_p.K277fs|HDAC4_uc010zoa.1_Frame_Shift_Del_p.K277fs|HDAC4_uc010fza.2_Frame_Shift_Del_p.K282fs|HDAC4_uc010fyy.3_Frame_Shift_Del_p.K234fs|HDAC4_uc010znz.1_Frame_Shift_Del_p.K165fs|HDAC4_uc010fzb.1_Non-coding_Transcript NM_006037 NP_006028 P56524 HDAC4_HUMAN Homo sapiens histone deacetylase 4 (HDAC4), mRNA. 282 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CCAACGGACGCTTTTTTAGAG 0.572 ZNF385D 79750 broad.mit.edu 37 3 21478597 21478598 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:21478596_21478597C>CT uc003cce.3 - 4 946_947 c.538_539G>AG c.(538-540)agcfs p.S180fs ZNF385D_uc010hfb.1_Non-coding_Transcript NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 180 Thr-rich. nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TGTCGTTGGGCTTTTTTCCACT 0.475 TTC21A 199223 broad.mit.edu 37 3 39177852 39177852 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:39177851_39177851AT>A uc003cjc.2 + 22 3146 c.2969_2969AT>A c.(2968-2970)aatfs p.N990fs TTC21A_uc011ayx.1_Frame_Shift_Del_p.N942fs|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc003cjf.2_Frame_Shift_Del_p.N111fs NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA. 990 binding p.P989T(1)|p.P989Q(1)|p.P989K(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) ATTTTAGACAATTTTTTGGTA 0.438 SCAP 22937 broad.mit.edu 37 3 47458613 47458613 + Splice_Site DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:47458612_47458612CT>C uc003crh.1 - 18 3311 c.3056_splice c.e18+1 p.R1019_splice SCAP_uc011baz.1_Splice_Site_p.R763_splice|SCAP_uc003crg.2_Splice_Site_p.R626_splice NM_012235 NP_036367 Q12770 SCAP_HUMAN Homo sapiens SREBF chaperone (SCAP), mRNA. 1019 Interaction with SREBF2 (By similarity). R -> G (in Ref. 6; BAC11673). cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CCACGCTCACCTTTTGTCCAA 0.567 ATRIP 84126 broad.mit.edu 37 3 48505451 48505452 + In_Frame_Ins INS - - CTG TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:48505450_48505451C>CCTG uc003ctf.1 + 9 1925_1926 c.1893_1894C>CCTG c.(1891-1896)ctcctg>ctCCTGtg p.631_632LL>LL ATRIP_uc011bbj.1_In_Frame_Ins_p.504_505LL>LL|ATRIP_uc003ctg.1_In_Frame_Ins_p.631_632LL>LL|TREX1_uc010hjy.3_5'UTR|TREX1_uc003ctj.3_5'Flank|TREX1_uc010hjz.3_5'Flank|TREX1_uc003ctk.3_5'Flank|TREX1_uc010hka.3_5'Flank NM_130384 NP_569055 Q8WXE1 ATRIP_HUMAN Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA. 631 DNA damage checkpoint|DNA repair|DNA replication nucleoplasm protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1) 22 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AAGGCTGCCTCCTGCTGCTGCT 0.550 Other conserved DNA damage response genes IL17RB 55540 broad.mit.edu 37 3 53890903 53890905 + In_Frame_Del DEL AAG AAG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:53890902_53890904TAAG>T uc003dha.3 + 6 600_602 c.561_563TAAG>T c.(559-564)tgtaag>tgTg p.K189del NM_018725 NP_061195 Q9NRM6 I17RB_HUMAN Homo sapiens interleukin 17 receptor B (IL17RB), mRNA. 189 defense response|regulation of cell growth extracellular region|integral to plasma membrane cytokine receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) TCACTGCTTGTAAGAAGAATGAG 0.468 MORC1 27136 broad.mit.edu 37 3 108818240 108818240 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:108818239_108818239GA>G uc003dxl.3 - 5 476 c.389_389TC>C c.(388-390)tctfs p.S130fs MORC1_uc011bhn.2_Frame_Shift_Del_p.S130fs NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 130 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GAATGTCTGAGAAAAAAACAC 0.358 MYLK 4638 broad.mit.edu 37 3 123376260 123376260 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:123376259_123376259TG>T uc003ego.3 - 23 4284 c.4002_4002CA>A c.(4000-4002)ccafs p.P1334fs MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Frame_Shift_Del_p.P134fs|MYLK_uc011bjw.2_Frame_Shift_Del_p.P1334fs|MYLK_uc003egp.3_Frame_Shift_Del_p.P1265fs|MYLK_uc003egq.3_Frame_Shift_Del_p.P1334fs|MYLK_uc003egr.3_Frame_Shift_Del_p.P1265fs|MYLK_uc003egs.3_Frame_Shift_Del_p.P1158fs NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 1334 Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) GTGTGCCAGCTGGGGGGTCTG 0.527 TF 7018 broad.mit.edu 37 3 133494278 133494278 + Splice_Site DEL A A - rs145306578 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:133494277_133494277GA>G uc003epu.2 + 20 3416 c.1688_splice c.e20-1 p.G563_splice TF_uc011blt.2_Splice_Site_p.G436_splice|TF_uc003epw.2_Intron|TF_uc003epv.2_Splice_Site_p.G563_splice NM_001063 NP_001054 P02787 TRFE_HUMAN Homo sapiens transferrin (TF), mRNA. 563 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding p.G563E(1) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) CTGTCCCTAGGAAAAAACCCT 0.512 DZIP1L 199221 broad.mit.edu 37 3 137811279 137811279 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:137811278_137811278AT>A uc003erq.3 - 4 1180 c.817_817AT>T c.(817-819)ttafs p.L273fs DZIP1L_uc003err.1_Frame_Shift_Del_p.L273fs NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA. 273 intracellular zinc ion binding p.K272Q(1) breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 35 TCCCAAAATAATTTTTTTAGT 0.338 RBP2 5948 broad.mit.edu 37 3 139173634 139173635 + Frame_Shift_Ins INS - - CA TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:139173633_139173634G>GCA uc003eth.3 - 2 342_343 c.291_292C>TGC c.(289-294)gtgcaafs p.V97fs NM_004164 NP_004155 P50120 RET2_HUMAN Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA. 97 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 12 Vitamin A(DB00162) TCCCCCTTTTGCACACACACAA 0.510 CHST2 9435 broad.mit.edu 37 3 142840276 142840276 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:142840275_142840275CG>C uc003evm.3 + 1 1556 c.617_617CG>C c.(616-618)ccgfs p.P206fs CHST2_uc021xex.1_Frame_Shift_Del_p.P206fs NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA. 206 N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 AAACTGTATCCGGGGGACGCC 0.597 BCHE 590 broad.mit.edu 37 3 165548196 165548196 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:165548195_165548195AT>A uc003fem.4 - 1 787 c.627_627AT>T c.(625-627)aatfs p.N209fs BCHE_uc003fen.4_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN Homo sapiens butyrylcholinesterase (BCHE), mRNA. 209 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding p.N209Y(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AGGCTGCTATATTTTTTTGAA 0.453 SERPINI1 5274 broad.mit.edu 37 3 167507159 167507159 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:167507158_167507158TA>T uc003ffa.4 + 1 440 c.242_242TA>T c.(241-243)ctafs p.L81fs SERPINI1_uc003ffb.4_Frame_Shift_Del_p.L81fs NM_001122752 NP_005016 Q99574 NEUS_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA. 81 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.L81Q(2)|p.S80I(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 TATGACAGCCTAAAAAATGGT 0.388 FNDC3B 64778 broad.mit.edu 37 3 172070675 172070676 + Frame_Shift_Del DEL CT CT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:172070674_172070675ACT>A uc003fhy.3 + 21 2768_2769 c.2596_2597ACT>A c.(2596-2598)actfs p.T866fs FNDC3B_uc003fhz.4_Frame_Shift_Del_p.T866fs NM_022763 NP_073600 Q53EP0 FND3B_HUMAN Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA. 866 Fibronectin type-III 7. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) CCCCGTCTCCACTCTCTGTGTC 0.559 LPP 4026 broad.mit.edu 37 3 188327441 188327442 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr3:188327440_188327441T>TG uc003frs.2 + 5 1167_1168 c.921_922T>TG c.(919-924)tatgggfs p.Y307fs LPP_uc011bsg.2_Intron|LPP_uc011bsi.2_Frame_Shift_Ins_p.Y307fs|LPP_uc003frt.3_Frame_Shift_Ins_p.Y307fs|LPP_uc011bsj.2_Frame_Shift_Ins_p.Y144fs NM_005578 NP_005569 Q93052 LPP_HUMAN Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA. 307 Pro-rich. cell adhesion cytoplasm|focal adhesion|nucleus protein binding|zinc ion binding p.G308R(1) HMGA2/LPP(161) NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088) all_lung(153;0.00139)|Lung NSC(153;0.00202) GBM - Glioblastoma multiforme(93;0.00602) GGCCAGGCTATGGGGGCAGAAA 0.559 T """HMGA2, MLL, C12orf9""" """lipoma, leukemia""" SLC30A9 10463 broad.mit.edu 37 4 42041027 42041027 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:42041026_42041026GT>G uc003gwl.3 + 7 839 c.693_693GT>G c.(691-693)gtgfs p.V231fs SLC30A9_uc011byx.2_5'UTR NM_006345 NP_006336 Q6PML9 ZNT9_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA. 231 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CAGCATCAGTGTTTTTTAAGG 0.338 RRH 10692 broad.mit.edu 37 4 110756541 110756542 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:110756540_110756541A>AT uc003hzv.3 + 2 350_351 c.316_317A>AT c.(316-318)attfs p.I106fs NM_006583 NP_006574 O14718 OPSX_HUMAN Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA. 106 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 12 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) TGGATTGAATATTTTTTTTGGA 0.391 ANK2 287 broad.mit.edu 37 4 114274959 114274959 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:114274958_114274958TA>T uc003ibe.4 + 37 5284 c.5184_5184TA>T c.(5182-5184)cttfs p.L1728fs ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.L1743fs NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 1695 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAGCTGAACTTAAAAAAGGTA 0.413 SH3D19 152503 broad.mit.edu 37 4 152069114 152069114 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:152069113_152069113AG>A uc010ipl.1 - 10 2293 c.1203_1203CT>T c.(1201-1203)cctfs p.P401fs SH3D19_uc003imb.2_Frame_Shift_Del_p.P179fs|SH3D19_uc003imc.2_Frame_Shift_Del_p.P365fs|SH3D19_uc003ime.2_Frame_Shift_Del_p.P401fs|SH3D19_uc010ipm.2_Frame_Shift_Del_p.P401fs NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA. 401 cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport Golgi apparatus|cytosol|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GTTTGGGACGAGGGGGTAGCA 0.393 PLRG1 5356 broad.mit.edu 37 4 155468219 155468219 + Splice_Site DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:155468218_155468218TA>T uc003iny.3 - 4 385 c.260_splice c.e4-1 p.G87_splice PLRG1_uc003inz.3_Splice_Site_p.G87_splice|PLRG1_uc011cil.2_Splice_Site NM_002669 NP_002660 O43660 PLRG1_HUMAN Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA. 87 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) CTTCTTGTCCTAAAAAAACAC 0.308 SH3RF1 57630 broad.mit.edu 37 4 170057635 170057635 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr4:170057634_170057634CT>C uc003isa.1 - 4 1238 c.903_903AG>G c.(901-903)aagfs p.K301fs SH3RF1_uc010irc.1_Frame_Shift_Del_p.A24fs NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA. 301 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) AGGAGTGCCGCTTTTTGGTGT 0.582 ZFR 51663 broad.mit.edu 37 5 32355893 32355893 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:32355892_32355892CT>C uc003jhr.1 - 19 3279 c.3199_3199AG>G c.(3199-3201)gacfs p.D1067fs ZFR_uc010ium.1_Frame_Shift_Del_p.D198fs|ZFR_uc011cny.1_Non-coding_Transcript NM_016107 NP_057191 Q96KR1 ZFR_HUMAN Homo sapiens zinc finger RNA binding protein (ZFR), mRNA. 1067 multicellular organismal development chromosome|cytoplasm|nucleus DNA binding|RNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2) 32 STAD - Stomach adenocarcinoma(35;0.19) TCTTTTTTGTCTTTTTTCCCC 0.343 HCN1 348980 broad.mit.edu 37 5 45262402 45262402 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:45262401_45262401AT>A uc003jok.3 - 7 2320 c.2295_2295AT>T c.(2293-2295)aatfs p.N765fs NM_021072 NP_066550 O60741 HCN1_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA. 765 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGTGCACTTCATTTTTCGGCG 0.652 PTCD2 79810 broad.mit.edu 37 5 71648518 71648518 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:71648517_71648517TA>T uc003kcb.3 + 8 888 c.878_878TA>T c.(877-879)ctafs p.L293fs PTCD2_uc011csf.1_Frame_Shift_Del_p.L103fs|PTCD2_uc003kcc.3_Frame_Shift_Del_p.L141fs|PTCD2_uc011csg.2_Frame_Shift_Del_p.L121fs|PTCD2_uc011csh.2_Frame_Shift_Del_p.L184fs|PTCD2_uc003kcd.3_Non-coding_Transcript NM_024754 NP_079030 Q8WV60 PTCD2_HUMAN Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA. 293 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) ATAAAGACTCTAAAAAATGCT 0.343 VCAN 1462 broad.mit.edu 37 5 82833368 82833368 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:82833367_82833367CA>C uc003kii.3 + 7 4901 c.4545_4545CA>C c.(4543-4545)gccfs p.A1515fs VCAN_uc003kij.3_Frame_Shift_Del_p.A528fs|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Frame_Shift_Del_p.A179fs NM_004385 NP_004376 P13611 CSPG2_HUMAN Homo sapiens versican (VCAN), transcript variant 1, mRNA. 1515 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.T1514T(1) NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 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) GTGGAACAGCCAAAAAAGGGG 0.448 CEP120 153241 broad.mit.edu 37 5 122713213 122713213 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:122713212_122713212CT>C uc003ktk.3 - 16 2330 c.2214_2214AG>G c.(2212-2214)aagfs p.K738fs CEP120_uc010jcz.2_Frame_Shift_Del_p.K712fs|CEP120_uc011cwq.2_Frame_Shift_Del_p.K547fs NM_153223 NP_001159698 Q8N960 CE120_HUMAN Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA. 738 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 ATTGCAGTTCCTTTTTTTCTC 0.388 CSNK1G3 1456 broad.mit.edu 37 5 122926182 122926182 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:122926181_122926181CT>C uc003ktm.3 + 8 1638 c.919_919CT>C c.(919-921)cttfs p.L307fs CSNK1G3_uc003ktl.3_Frame_Shift_Del_p.L307fs|CSNK1G3_uc003ktn.3_Frame_Shift_Del_p.L307fs|CSNK1G3_uc003kto.3_Frame_Shift_Del_p.L307fs|CSNK1G3_uc011cwr.2_Frame_Shift_Del_p.L232fs|CSNK1G3_uc011cws.2_Frame_Shift_Del_p.L195fs|CSNK1G3_uc010jda.3_Frame_Shift_Del_p.L308fs NM_004384 NP_004375 Q9Y6M4 KC1G3_HUMAN Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA. 307 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1) 15 all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245) KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229) OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176) CTTAAGAAAGCTTTTTACTGA 0.264 ZNF608 57507 broad.mit.edu 37 5 123984684 123984684 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:123984683_123984683GC>G uc003ktq.1 - 3 1577 c.1394_1394GC>C c.(1393-1395)gccfs p.A465fs ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.A465fs NM_020747 NP_065798 Q9ULD9 ZN608_HUMAN Homo sapiens zinc finger protein 608 (ZNF608), mRNA. 465 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 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) TTTCCCATTGGCCCCCCCTCT 0.627 PHAX 51808 broad.mit.edu 37 5 125939712 125939713 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:125939711_125939712C>CA uc003kua.2 + 1 594_595 c.546_547C>CA c.(544-549)ggcaaafs p.G182fs NM_032177 NP_115553 Q9H814 PHAX_HUMAN Homo sapiens phosphorylated adaptor for RNA export (PHAX), mRNA. 182 Necessary for interaction with CBP80 (By similarity). ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 TGCATGGTGGCAAAAAAATGGG 0.401 HSPA4 3308 broad.mit.edu 37 5 132439995 132439995 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:132439994_132439994CA>C uc003kyj.3 + 18 2670 c.2389_2389CA>C c.(2389-2391)caafs p.Q797fs NM_002154 NP_002145 P34932 HSP74_HUMAN Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA. 797 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAAAGAGGAACAAAAAAATGC 0.493 CATSPER3 347732 broad.mit.edu 37 5 134305723 134305723 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:134305722_134305722GT>G uc003lag.3 + 1 278 c.192_192GT>G c.(190-192)gcgfs p.A64fs NM_178019 NP_821138 Q86XQ3 CTSR3_HUMAN Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA. 64 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CATCGAATGCGTTTTTTATGG 0.388 CTNNA1 1495 broad.mit.edu 37 5 138260955 138260955 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:138260954_138260954GT>G uc003ldh.3 + 12 1852 c.1757_1757GT>G c.(1756-1758)cgtfs p.R586fs CTNNA1_uc011cyx.2_Frame_Shift_Del_p.R483fs|CTNNA1_uc011cyy.2_Frame_Shift_Del_p.R463fs|CTNNA1_uc003ldi.3_Frame_Shift_Del_p.R284fs|CTNNA1_uc003ldj.3_Frame_Shift_Del_p.R586fs|CTNNA1_uc003ldl.3_Frame_Shift_Del_p.R216fs NM_001903 NP_001894 P35221 CTNA1_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA. 586 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 NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTCATGCCACGTTTTACTGAG 0.542 PCDHB3 56132 broad.mit.edu 37 5 140480418 140480418 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140480417_140480417AG>A uc003lio.3 + 0 184 c.184_184AG>A c.(184-186)aggfs p.R62fs BC016751_uc003lin.3_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 62 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.A61T(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTGGCCGCGAGGGGGGCCCA 0.502 PCDHB12 56124 broad.mit.edu 37 5 140588576 140588576 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140588575_140588575CT>C uc003liz.3 + 0 285 c.96_96CT>C c.(94-96)aacfs p.N32fs PCDHB12_uc011dak.2_5'UTR NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN Homo sapiens protocadherin beta 12 (PCDHB12), mRNA. 32 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAACTGGGAACTTTTTGGTGA 0.537 PCDHGC5 56097 broad.mit.edu 37 5 140798891 140798891 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:140798890_140798890CT>C uc003lkn.2 + 0 1631 c.1464_1464CT>C c.(1462-1464)tccfs p.S488fs PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Frame_Shift_Del_p.S488fs|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank NM_018927 NP_061750 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA. 490 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGTGTCTCCTACTCTCTCA 0.637 ARAP3 64411 broad.mit.edu 37 5 141059689 141059689 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:141059688_141059688TC>T uc003llm.3 - 1 444 c.366_366GA>A c.(364-366)ggafs p.G122fs ARAP3_uc003lln.3_Frame_Shift_Del_p.G44fs|ARAP3_uc003llo.1_Frame_Shift_Del_p.G122fs NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA. 122 Pro-rich. cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding p.G121V(1) NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 ACACTCCTGGTCCCCCGAGGG 0.647 PPARGC1B 133522 broad.mit.edu 37 5 149206386 149206386 + Frame_Shift_Del DEL C C - rs147140005 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:149206385_149206385AC>A uc003lrc.3 + 2 493 c.402_402AC>A c.(400-402)gcafs p.A134fs PPARGC1B_uc003lrb.2_Frame_Shift_Del_p.A134fs|PPARGC1B_uc003lrd.3_Frame_Shift_Del_p.A134fs|PPARGC1B_uc021yfr.1_Frame_Shift_Del_p.A109fs|PPARGC1B_uc003lre.1_Frame_Shift_Del_p.A113fs|PPARGC1B_uc003lrf.3_Frame_Shift_Del_p.A113fs NM_133263 NP_573570 Q86YN6 PRGC2_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA. 134 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CCTCATCTGCACCCCCCAGCC 0.617 NSD1 64324 broad.mit.edu 37 5 176700715 176700715 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:176700714_176700714CA>C uc003mfr.4 + 16 5689 c.5551_5551CA>C c.(5551-5553)caafs p.Q1851fs NSD1_uc003mft.4_Frame_Shift_Del_p.Q1582fs|NSD1_uc003mfs.1_Frame_Shift_Del_p.Q1748fs|NSD1_uc011dfx.2_Frame_Shift_Del_p.Q1499fs NM_022455 NP_071900 Q96L73 NSD1_HUMAN Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA. 1851 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 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 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) ATTAAAGGCCCAAAAAGAGCT 0.418 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) ZNF354A 6940 broad.mit.edu 37 5 178140425 178140425 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr5:178140424_178140424AT>A uc003mjj.3 - 4 653 c.455_455AT>T c.(454-456)atcfs p.I152fs NM_005649 NP_005640 O60765 Z354A_HUMAN Homo sapiens zinc finger protein 354A (ZNF354A), mRNA. 152 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 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) TATAGTGGGGATTTTTTTGTG 0.358 JARID2 3720 broad.mit.edu 37 6 15496636 15496637 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:15496635_15496636C>CG uc003nbj.3 + 6 1423_1424 c.1179_1180C>CG c.(1177-1182)ctcgggfs p.L393fs JARID2_uc011diu.1_Frame_Shift_Ins_p.L257fs|JARID2_uc011div.2_Frame_Shift_Ins_p.L221fs|JARID2_uc011diw.1_Frame_Shift_Ins_p.L355fs NM_004973 NP_004964 Q92833 JARD2_HUMAN Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA. 393 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 p.L393L(2) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1) 59 Breast(50;0.0142)|Ovarian(93;0.103) all_hematologic(90;0.00612) TGCTATCCCTCGGGGGGGCGTC 0.574 DCDC2 51473 broad.mit.edu 37 6 24301971 24301971 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:24301970_24301970AT>A uc003ndx.3 - 3 832 c.530_530AT>T c.(529-531)atcfs p.I177fs DCDC2_uc003ndy.3_Frame_Shift_Del_p.I177fs NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA. 177 Doublecortin 2. cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) CCTCAGAGTGATTTTTTCTGT 0.438 TRIM31 11074 broad.mit.edu 37 6 30078384 30078386 + In_Frame_Del DEL CTC CTC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:30078383_30078385TCTC>T uc003npg.1 - 3 694_696 c.584_586GAGA>A c.(583-588)gagaag>gAag p.K196del TRIM31_uc003npi.3_Non-coding_Transcript NM_007028 NP_008959 Q9BZY9 TRI31_HUMAN Homo sapiens tripartite motif containing 31 (TRIM31), mRNA. 196 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 AGGAAATTCTTCTCCTCCTCTAG 0.493 SLC44A4 80736 broad.mit.edu 37 6 31833125 31833125 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:31833124_31833124AT>A uc010jti.3 - 16 1794 c.1728_1728AT>T c.(1726-1728)aatfs p.N576fs NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Frame_Shift_Del_p.N500fs|SLC44A4_uc011dom.2_Frame_Shift_Del_p.N534fs NM_025257 NP_079533 Q53GD3 CTL4_HUMAN Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA. 576 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) GCATGAACGCATTTTTGGCTG 0.567 EGFL8 80864 broad.mit.edu 37 6 32134319 32134321 + In_Frame_Del DEL ACA ACA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:32134318_32134320TACA>T uc003oab.1 + 2 252_254 c.145_147TACA>T c.(145-147)tac>T p.Y49del EGFL8_uc003nzy.2_Non-coding_Transcript|PPT2_uc010jtu.1_3'UTR|EGFL8_uc003oac.1_In_Frame_Del_p.Y49del NM_030652 NP_085155 Q99944 EGFL8_HUMAN Homo sapiens EGF-like-domain, multiple 8 (EGFL8), transcript variant 1, mRNA. 49 EMI. extracellular region|integral to membrane calcium ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 10 CCCGCTCCACTACAACGAGTCCT 0.606 B3GALT4 8705 broad.mit.edu 37 6 33245916 33245917 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:33245915_33245916C>CG uc003odr.3 + 0 999_1000 c.719_720C>CG c.(718-720)ccgfs p.P240fs NM_003782 NP_003773 O96024 B3GT4_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA. 240 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 TCTCGGACACCGGGGGGCAGGC 0.644 BRPF3 27154 broad.mit.edu 37 6 36168884 36168887 + Frame_Shift_Del DEL CTCC CTCC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:36168883_36168886TCTCC>T uc003olv.4 + 1 1008_1011 c.784_787TCTCC>T c.(784-789)tctcccfs p.S262fs BRPF3_uc010jwb.3_Frame_Shift_Del_p.S262fs|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Frame_Shift_Del_p.S262fs NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA. 262 histone H3 acetylation|platelet activation|platelet degranulation MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 CTGCCTGCAGTCTCCCTCCCGGCC 0.578 TBC1D22B 55633 broad.mit.edu 37 6 37250063 37250063 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:37250062_37250062GC>G uc003onn.3 + 3 669 c.523_523GC>G c.(523-525)gccfs p.A175fs TBC1D22B_uc010jwt.3_Non-coding_Transcript NM_017772 NP_060242 Q9NU19 TB22B_HUMAN Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA. 175 intracellular Rab GTPase activator activity p.A175P(2) breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1) 15 OV - Ovarian serous cystadenocarcinoma(102;0.241) CGCTTCTGGGGCCCCCCCAAT 0.572 FOXP4 116113 broad.mit.edu 37 6 41555186 41555186 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:41555185_41555185AC>A uc003oql.3 + 6 1265 c.807_807AC>A c.(805-807)tcafs p.S269fs FOXP4_uc003oqm.3_Frame_Shift_Del_p.S267fs|FOXP4_uc003oqn.3_Frame_Shift_Del_p.S268fs NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA. 269 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex DNA bending activity|chromatin binding|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 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) CCAAGGTCTCACCCCCCCTCT 0.677 OREG0004065 type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay FOXP4 116113 broad.mit.edu 37 6 41557781 41557781 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:41557780_41557780AC>A uc003oql.3 + 10 1687 c.1229_1229AC>A c.(1228-1230)cacfs p.H410fs FOXP4_uc003oqm.3_Frame_Shift_Del_p.H408fs|FOXP4_uc003oqn.3_Frame_Shift_Del_p.H397fs NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA. 410 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex DNA bending activity|chromatin binding|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 autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) GGTCTCGTGCACCCCCCGACC 0.677 RUNX2 860 broad.mit.edu 37 6 45390355 45390355 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:45390354_45390354GC>G uc011dvx.2 + 2 293 c.83_83GC>G c.(82-84)agcfs p.S28fs RUNX2_uc011dvy.2_Frame_Shift_Del_p.S28fs|RUNX2_uc003oxt.3_Frame_Shift_Del_p.S14fs NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA. 28 negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CGGCGCTTCAGCCCCCCCTCC 0.647 DST 667 broad.mit.edu 37 6 56434717 56434717 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:56434716_56434716CT>C uc003pcy.4 - 34 6055 c.5947_5947AG>G c.(5947-5949)gttfs p.V1983fs NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 4395 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 Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity p.E1983Q(1) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ACAATGGGAACTTTTTTTGTT 0.333 LCA5 167691 broad.mit.edu 37 6 80228605 80228605 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:80228604_80228604TC>T uc003piy.3 - 2 620 c.8_8GA>A c.(7-9)gaafs p.E3fs LCA5_uc003pix.3_Frame_Shift_Del_p.E3fs|LCA5_uc011dyr.2_Frame_Shift_Del_p.E3fs NM_181714 NP_859065 Q86VQ0 LCA5_HUMAN Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA. 3 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 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) TCCTGCTCTTTCCCCCATTGT 0.383 SLC22A16 85413 broad.mit.edu 37 6 110763711 110763711 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:110763710_110763710AT>A uc003puf.3 - 3 987 c.920_920AT>T c.(919-921)atafs p.I307fs SLC22A16_uc003pue.3_Frame_Shift_Del_p.I288fs NM_033125 NP_149116 Q86VW1 S22AG_HUMAN Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA. 307 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GATGTCAACTATTTTTTGTGC 0.473 REV3L 5980 broad.mit.edu 37 6 111656711 111656711 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:111656710_111656710CA>C uc003puy.4 - 21 7983 c.7642_7642TG>G c.(7642-7644)ggcfs p.G2548fs REV3L_uc003pux.4_Frame_Shift_Del_p.G2470fs|REV3L_uc003puz.4_Frame_Shift_Del_p.G2470fs|REV3L_uc003pva.1_Non-coding_Transcript NM_002912 NP_002903 O60673 DPOLZ_HUMAN Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA. 2548 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 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) AACTGAATGCCAAAAAGTCTA 0.408 DNA polymerases (catalytic subunits) FAM26E 254228 broad.mit.edu 37 6 116836954 116836955 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:116836953_116836954G>GT uc003pwy.3 + 1 783_784 c.731_732G>GT c.(730-732)tgtfs p.C244fs BET3L_uc011ebh.2_Intron NM_153711 NP_714922 Q8N5C1 FA26E_HUMAN Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA. 244 integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212) AACCTGAAATGTTTTTTTGAAA 0.460 PHACTR2 9749 broad.mit.edu 37 6 144086746 144086746 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:144086745_144086745GC>G uc010khi.3 + 5 1241 c.1042_1042GC>G c.(1042-1044)gccfs p.A348fs PHACTR2_uc003qjq.4_Frame_Shift_Del_p.A337fs|PHACTR2_uc010khh.3_Frame_Shift_Del_p.A257fs|PHACTR2_uc003qjr.4_Frame_Shift_Del_p.A268fs NM_001100164 NP_001093634 O75167 PHAR2_HUMAN Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA. 337 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TTCTCCTCTGGCCCCCCCTCT 0.587 STXBP5 134957 broad.mit.edu 37 6 147648266 147648266 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:147648265_147648265GT>G uc003qlz.3 + 17 2108 c.1933_1933GT>G c.(1933-1935)gttfs p.V645fs STXBP5_uc010khz.2_Frame_Shift_Del_p.V645fs|STXBP5_uc003qly.3_Frame_Shift_Del_p.V316fs|STXBP5_uc003qma.3_5'UTR NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA. 645 exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) TCCCAGGGTGGTTTTTGGCAA 0.388 T 6862 broad.mit.edu 37 6 166580151 166580151 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:166580150_166580150GC>G uc003qut.1 - 1 687 c.401_401GC>C c.(400-402)gccfs p.A134fs T_uc003quu.1_Frame_Shift_Del_p.A134fs|T_uc003quv.1_Frame_Shift_Del_p.A134fs NM_003181 NP_003172 O15178 BRAC_HUMAN Homo sapiens T, brachyury homolog (mouse) (T), mRNA. 134 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity p.A134G(2) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CATCCAGTGGGCCCCGAAGTT 0.657 Chordoma, Familial Clustering of MLLT4 4301 broad.mit.edu 37 6 168315898 168315899 + Frame_Shift_Del DEL AG AG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr6:168315897_168315898CAG>C uc021zik.1 + 17 2524_2525 c.2205_2206CAG>C c.(2203-2208)tgcagafs p.C735fs MLLT4_uc003qwb.1_Frame_Shift_Del_p.C760fs|MLLT4_uc003qwc.2_Frame_Shift_Del_p.C776fs|MLLT4_uc021zij.1_Frame_Shift_Del_p.C760fs|MLLT4_uc021zim.1_Frame_Shift_Del_p.C322fs|MLLT4_uc003qwg.1_Frame_Shift_Del_p.C85fs NM_001040000 NP_001035089 P55196 AFAD_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA. 776 Dilute. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TACGACGCTGCAGAGTCAATGC 0.535 T MLL AL POLD2 5425 broad.mit.edu 37 7 44155802 44155802 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:44155801_44155801AG>A uc010kxz.3 - 8 1582 c.932_932CT>T c.(931-933)ctcfs p.L311fs POLD2_uc010kya.3_Frame_Shift_Del_p.L311fs|POLD2_uc003tkf.4_Frame_Shift_Del_p.L311fs NM_006230 NP_006221 P49005 DPOD2_HUMAN Homo sapiens polymerase (DNA directed), delta 2, regulatory subunit 50kDa (POLD2), transcript variant 2, mRNA. 311 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 12 GCAGGGGTGGAGGGGCTGCTG 0.632 CROT 54677 broad.mit.edu 37 7 86978480 86978480 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:86978479_86978479TA>T uc003uiu.3 + 2 340 c.95_95TA>T c.(94-96)ttafs p.L32fs CROT_uc003uis.3_Frame_Shift_Del_p.L32fs|CROT_uc003uit.3_Frame_Shift_Del_p.L32fs NM_001143935 NP_001137407 Q9UKG9 OCTC_HUMAN Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA. 32 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) GAAGAATCATTAAAAAAATAC 0.318 SAMD9L 219285 broad.mit.edu 37 7 92761061 92761062 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:92761060_92761061G>GT uc003umh.1 - 4 5440_5441 c.4224_4225C>AC c.(4222-4227)aaacaafs p.K1408fs SAMD9L_uc003umj.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc003umi.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfb.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc003umk.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfc.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc010lfd.1_Frame_Shift_Ins_p.K1408fs|SAMD9L_uc022ahh.1_Frame_Shift_Ins_p.K1408fs NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 1408 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 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) TCTCGGAGTTGTTTTTTTAGCG 0.406 MET 4233 broad.mit.edu 37 7 116422111 116422111 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:116422110_116422110CA>C uc003vij.3 + 17 3778 c.3591_3591CA>C c.(3589-3591)agcfs p.S1197fs MET_uc010lkh.3_Frame_Shift_Del_p.S1215fs|MET_uc011knj.2_Frame_Shift_Del_p.S767fs NM_000245 NP_000236 P08581 MET_HUMAN Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA. 1197 Protein kinase. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) ATCTTGCAAGCAAAAAGTTTG 0.383 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) GRM8 2918 broad.mit.edu 37 7 126173278 126173278 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:126173277_126173277TG>T uc003vlr.2 - 7 2470 c.2159_2159CA>A c.(2158-2160)cacfs p.H720fs GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Frame_Shift_Del_p.H720fs|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 720 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AATGATGATGTGGGGGGGATC 0.502 HNSCC(24;0.065) ZNF212 7988 broad.mit.edu 37 7 148947624 148947624 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:148947623_148947623AG>A uc003wfp.3 + 1 526 c.398_398AG>A c.(397-399)aagfs p.K133fs NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN Homo sapiens zinc finger protein 212 (ZNF212), mRNA. 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) CCGGGCAGCAAGGGGGAGGCC 0.567 KCNH2 3757 broad.mit.edu 37 7 150656679 150656679 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr7:150656678_150656678TG>T uc003wic.3 - 2 855 c.454_454CA>A c.(454-456)accfs p.T152fs KCNH2_uc011kux.2_Frame_Shift_Del_p.T56fs|KCNH2_uc003wie.3_Frame_Shift_Del_p.T152fs NM_000238 NP_000229 Q12809 KCNH2_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA. 152 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity p.T152fs*180(2) NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) AGCCAGCTGGTGGGGGGGCCC 0.592 KIAA1967 57805 broad.mit.edu 37 8 22472975 22472975 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:22472974_22472974AC>A uc003xch.3 + 11 1491 c.1242_1242AC>A c.(1240-1242)ggafs p.G414fs KIAA1967_uc003xci.3_Frame_Shift_Del_p.G414fs|KIAA1967_uc003xcj.1_Frame_Shift_Del_p.G83fs NM_021174 NP_066997 Q8N163 K1967_HUMAN Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA. 414 apoptosis|positive regulation of apoptosis mitochondrial matrix|nucleus enzyme binding|enzyme inhibitor activity p.P413P(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5) 25 Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142) BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) TGCAGCCGGGACCCCCCCGGC 0.582 ESCO2 157570 broad.mit.edu 37 8 27645493 27645493 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:27645492_27645492TA>T uc003xgg.3 + 5 1187 c.1104_1104TA>T c.(1102-1104)agtfs p.S368fs ESCO2_uc010luy.1_Non-coding_Transcript NM_001017420 NP_001017420 Q56NI9 ESCO2_HUMAN Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA. 368 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GAGATACAAGTAAAAAAACAA 0.383 SC Phocomelia syndrome UNC5D 137970 broad.mit.edu 37 8 35583980 35583981 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:35583979_35583980C>CA uc003xjr.2 + 9 1941_1942 c.1613_1614C>CA c.(1612-1614)acafs p.T538fs UNC5D_uc003xjs.2_Frame_Shift_Ins_p.T533fs|UNC5D_uc003xju.2_Frame_Shift_Ins_p.T114fs|UNC5D_uc003xjt.1_Frame_Shift_Ins_p.T296fs NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA. 538 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TCACTCCCCACAAGGACAGAAC 0.446 CHD7 55636 broad.mit.edu 37 8 61765669 61765669 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:61765668_61765668TA>T uc003xue.3 + 30 6876 c.6384_6384TA>T c.(6382-6384)catfs p.H2128fs CHD7_uc022aux.1_Intron NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA. 2128 T cell differentiation|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|transcription, DNA-dependent nucleus ATP binding|DNA binding|chromatin binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 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) TGGATGCACATAAAAACTTTG 0.483 CA2 760 broad.mit.edu 37 8 86386635 86386635 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:86386634_86386634AT>A uc003ydk.2 + 3 613 c.433_433AT>A c.(433-435)attfs p.I145fs NM_000067 NP_000058 P00918 CAH2_HUMAN Homo sapiens carbonic anhydrase II (CA2), mRNA. 145 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1) 11 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CGTTCTAGGTATTTTTTTGAA 0.388 FBXO43 286151 broad.mit.edu 37 8 101154029 101154029 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:101154028_101154028AT>A uc003yjd.3 - 1 1190 c.454_454AT>T c.(454-456)tgtfs p.C152fs FBXO43_uc003yje.3_Frame_Shift_Del_p.C118fs|FBXO43_uc010mbp.2_Frame_Shift_Del_p.C152fs NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA. 152 meiosis zinc ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1) 31 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) CGAGGTAAACATTTTTTCCCA 0.343 SLC30A8 169026 broad.mit.edu 37 8 118183307 118183308 + Frame_Shift_Del DEL AG AG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:118183306_118183307AAG>A uc003yoh.3 + 6 1093_1094 c.863_864AAG>A c.(862-864)aaafs p.K288fs SLC30A8_uc010mcz.3_Frame_Shift_Del_p.K239fs|SLC30A8_uc003yog.3_Frame_Shift_Del_p.K239fs|SLC30A8_uc011lia.2_Frame_Shift_Del_p.K239fs|SLC30A8_uc022bab.1_Frame_Shift_Del_p.K239fs NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 288 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 breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) AGTGGTGTGAAAGAGCTTATTT 0.441 SLA 6503 broad.mit.edu 37 8 134063100 134063100 + Frame_Shift_Del DEL G G - rs143198289 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:134063099_134063099CG>C uc011ljd.2 - 1 321 c.243_243CG>G c.(241-243)ccgfs p.P81fs TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Frame_Shift_Del_p.P41fs|SLA_uc011lje.2_Frame_Shift_Del_p.P58fs|SLA_uc011ljf.2_5'UTR|SLA_uc011ljg.2_Frame_Shift_Del_p.P58fs|SLA_uc010mdy.1_Frame_Shift_Del_p.P41fs|SLA_uc010mdz.1_Frame_Shift_Del_p.P41fs|SLA_uc010mea.2_Non-coding_Transcript NM_006748 NP_006739 Q13239 SLAP1_HUMAN Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA. 41 SH3. endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 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 EIF2C2 27161 broad.mit.edu 37 8 141557663 141557665 + In_Frame_Del DEL TTC TTC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:141557662_141557664GTTC>G uc003yvn.3 - 12 1692_1694 c.1651_1653GAAC>C c.(1651-1653)aac>C p.N551del EIF2C2_uc010meo.3_In_Frame_Del_p.N551del|EIF2C2_uc010men.3_In_Frame_Del_p.N474del NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA. 551 Piwi. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 33 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) TCCTCTGCACGTTCTTCATCTGC 0.626 SLC45A4 57210 broad.mit.edu 37 8 142229029 142229031 + In_Frame_Del DEL AAG AAG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:142229028_142229030AAAG>A uc003ywd.1 - 3 864_866 c.556_558CTTT>T c.(556-558)ttt>T p.F186del SLC45A4_uc003ywc.1_In_Frame_Del_p.F186del|SLC45A4_uc010meq.1_In_Frame_Del_p.F184del NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA. 237 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|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;0.0493) TGATGGCGGCAAAGAAGAAGAGC 0.660 MAPK15 225689 broad.mit.edu 37 8 144804319 144804319 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:144804318_144804318AG>A uc003yzj.3 + 13 1573 c.1532_1532AG>A c.(1531-1533)cagfs p.Q511fs NM_139021 NP_620590 Q8TD08 MK15_HUMAN Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA. 511 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAGGGTGCCCAGGGGGGTGCC 0.667 SLC39A4 55630 broad.mit.edu 37 8 145640283 145640283 + Splice_Site DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr8:145640282_145640282TG>T uc003zcq.3 - 5 905 c.805_splice c.e5-1 p.V269_splice SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_5'UTR|SLC39A4_uc003zcp.3_Splice_Site_p.V244_splice NM_130849 NP_570901 Q6P5W5 S39A4_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA. 269 cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane zinc ion transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 14 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055) CAGGCATACCTGGGGGGTGGC 0.672 PTCH1 5727 broad.mit.edu 37 9 98209617 98209617 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:98209616_98209616TG>T uc004avk.4 - 22 4110 c.3922_3922CA>A c.(3922-3924)agafs p.R1308fs PTCH1_uc010mrn.3_Frame_Shift_Del_p.R100fs|PTCH1_uc010mro.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrp.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc010mrq.3_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avl.4_Frame_Shift_Del_p.R1157fs|PTCH1_uc004avm.4_Frame_Shift_Del_p.R1307fs|PTCH1_uc010mrr.3_Frame_Shift_Del_p.R1242fs NM_000264 NP_001077076 Q13635 PTC1_HUMAN Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA. 1308 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity p.R1308G(2) NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) AAGCCTTCTCTGGGGGGGTCC 0.662 TSC1 7248 broad.mit.edu 37 9 135772951 135772951 + Frame_Shift_Del DEL T T - rs118203724 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr9:135772950_135772950GT>G uc004cca.2 - 20 2907 c.2673_2673AC>C c.(2671-2673)aacfs p.N891fs TSC1_uc004ccb.3_Frame_Shift_Del_p.N890fs|TSC1_uc011mcq.1_Frame_Shift_Del_p.N840fs|TSC1_uc011mcr.2_Intron NM_000368 NP_000359 Q92574 TSC1_HUMAN Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA. 891 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly TSC1-TSC2 complex|cell cortex|lamellipodium|membrane chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CATGGCTTCTGTTTTTTTCTA 0.378 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis LARP4B 23185 broad.mit.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:890938_890938GT>G uc001ifs.1 - 4 529 c.488_488AC>C c.(487-489)acafs p.T163fs NM_015155 NP_055970 Q92615 LAR4B_HUMAN Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA. 163 HTH La-type RNA-binding. RNA binding|nucleotide binding p.T163P(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 GAATTCCAATGTTTTTTTAAG 0.353 KIAA1217 56243 broad.mit.edu 37 10 24820809 24820809 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:24820808_24820808GC>G uc001iru.4 + 14 3535 c.3132_3132GC>G c.(3130-3132)tcgfs p.S1044fs KIAA1217_uc001irs.3_Frame_Shift_Del_p.S964fs|KIAA1217_uc001irt.4_Frame_Shift_Del_p.S1009fs|KIAA1217_uc010qcy.2_Frame_Shift_Del_p.S1008fs|KIAA1217_uc010qcz.2_Frame_Shift_Del_p.S1009fs|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Frame_Shift_Del_p.S727fs|KIAA1217_uc001irz.3_Frame_Shift_Del_p.S727fs|KIAA1217_uc001irx.3_Frame_Shift_Del_p.S727fs|KIAA1217_uc001iry.3_Frame_Shift_Del_p.S727fs NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1044 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GGGGAAAGTCGCCCCCTCCTC 0.522 GPR158 57512 broad.mit.edu 37 10 25886977 25886977 + Frame_Shift_Del DEL A A - rs150246697 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:25886976_25886976GA>G uc001isj.3 + 10 2481 c.2421_2421GA>G c.(2419-2421)ctgfs p.L807fs GPR158_uc001isk.3_Frame_Shift_Del_p.L182fs NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 807 integral to membrane|plasma membrane G-protein coupled receptor activity p.L807L(2) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AGGAGACCCTGAAAAACCGAG 0.547 MYO3A 53904 broad.mit.edu 37 10 26359089 26359090 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:26359088_26359089A>AT uc001isn.2 + 12 1579_1580 c.1219_1220A>AT c.(1219-1221)attfs p.I407fs MYO3A_uc009xko.1_Frame_Shift_Ins_p.I407fs|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Frame_Shift_Ins_p.I407fs NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 407 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TCCTCCTCACATTTTTGCAATG 0.322 C10orf68 79741 broad.mit.edu 37 10 32974953 32974953 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:32974952_32974952CA>C uc001iwm.1 + 2 376 c.140_140CA>C c.(139-141)tcafs p.S47fs C10orf68_uc001iwl.1_Frame_Shift_Del_p.S41fs|C10orf68_uc001iwn.4_Frame_Shift_Del_p.S33fs|C10orf68_uc010qei.1_5'UTR NM_024688 NP_078964 Q9H943 CJ068_HUMAN Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA. 33 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 GAATCATTGTCAAAAACCAAA 0.279 CUL2 8453 broad.mit.edu 37 10 35351916 35351916 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:35351915_35351915CA>C uc010qer.2 - 2 356 c.252_252TG>G c.(250-252)ttgfs p.L84fs CUL2_uc021ppa.1_Frame_Shift_Del_p.L78fs|CUL2_uc009xma.3_5'UTR|CUL2_uc001ixv.3_Frame_Shift_Del_p.L65fs|CUL2_uc001ixw.3_Frame_Shift_Del_p.L65fs|CUL2_uc010qes.2_Frame_Shift_Del_p.L65fs NM_001198778 NP_001185707 Q13617 CUL2_HUMAN Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA. 65 G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding p.L65fs*10(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2) 31 CATGATTTTCCAAAAAAATCT 0.313 ANKRD30A 91074 broad.mit.edu 37 10 37430790 37430791 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:37430789_37430790G>GA uc021ppc.1 + 6 895_896 c.796_797G>GA c.(796-798)gaafs p.E266fs ANKRD30A_uc001iza.1_Frame_Shift_Ins_p.E266fs NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 322 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 AAGCTTGGTGGAAAAAACACCT 0.475 ARID5B 84159 broad.mit.edu 37 10 63850705 63850705 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:63850704_63850704GA>G uc001jlt.2 + 9 1938 c.1482_1482GA>G c.(1480-1482)aagfs p.K494fs ARID5B_uc001jlu.2_Frame_Shift_Del_p.K251fs NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 494 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CAGACATGAAGAAAAAAATAG 0.438 DNAJC12 56521 broad.mit.edu 37 10 69565466 69565466 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:69565465_69565465AT>A uc001jnb.3 - 3 546 c.378_378AT>T c.(376-378)aatfs p.N126fs U6_uc021prq.1_5'Flank NM_021800 NP_068572 Q9UKB3 DJC12_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 12 (DNAJC12), transcript variant 1, mRNA. 126 protein folding heat shock protein binding|unfolded protein binding breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 12 TACATTCCTCATTTTCCATCT 0.428 DDX50 79009 broad.mit.edu 37 10 70666693 70666693 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:70666692_70666692GA>G uc001jou.3 + 1 420 c.313_313GA>G c.(313-315)gaafs p.E105fs DDX50_uc001jot.3_Frame_Shift_Del_p.E105fs NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA. 105 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 AGATGAATATGAAAAAAAATC 0.308 DDX50 79009 broad.mit.edu 37 10 70670982 70670982 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:70670981_70670981TA>T uc001jou.3 + 3 725 c.618_618TA>T c.(616-618)attfs p.I206fs DDX50_uc001jot.3_Frame_Shift_Del_p.I206fs NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA. 206 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 AAGAAACAATTAAAAAAAGCC 0.368 LRRC20 55222 broad.mit.edu 37 10 72061118 72061119 + Frame_Shift_Ins INS - - G rs149973737 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:72061117_72061118A>AG uc001jqx.1 - 4 769_770 c.547_548T>CT c.(547-549)ctafs p.L183fs LRRC20_uc001jqy.1_Frame_Shift_Ins_p.L127fs|LRRC20_uc001jqz.1_Frame_Shift_Ins_p.L133fs NM_207119 NP_997002 Q8TCA0 LRC20_HUMAN Homo sapiens leucine rich repeat containing 20 (LRRC20), transcript variant 1, mRNA. 183 p.L183fs*>3(2)|p.P182H(1) endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1) 9 GGCCTAAGGTAGGGGGGCTCTT 0.658 ADAMTS14 140766 broad.mit.edu 37 10 72493711 72493711 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:72493710_72493710GC>G uc001jrg.3 + 7 1287 c.1287_1287GC>G c.(1285-1287)gcgfs p.A429fs ADAMTS14_uc001jrh.3_Frame_Shift_Del_p.A426fs|ADAMTS14_uc001jri.1_5'Flank NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 426 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 GCGTCATGGCGCCCCTGGTGC 0.627 NDST2 8509 broad.mit.edu 37 10 75567575 75567575 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:75567574_75567574TA>T uc001jvk.2 - 2 1377 c.573_573TA>A c.(571-573)ttafs p.L191fs NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Frame_Shift_Del_p.L68fs|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Frame_Shift_Del_p.L68fs NM_003635 NP_003626 P52849 NDST2_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA. 191 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.L191fs*12(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) AGTTTGAGTGTAAAAAAAGGG 0.587 DLG5 9231 broad.mit.edu 37 10 79581284 79581285 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:79581283_79581284T>TG uc001jzk.3 - 14 3028_3029 c.2958_2959A>CA c.(2956-2961)cccaaafs p.P986fs DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Frame_Shift_Ins_p.P590fs NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA. 986 Pro-rich. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) TAGTCTATTTTGGGGGGTGTCT 0.559 HTR7 3363 broad.mit.edu 37 10 92502258 92502258 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:92502257_92502257CT>C uc001kha.3 - 3 1665 c.1422_1422AG>G c.(1420-1422)aagfs p.K474fs HTR7_uc001kgz.3_Frame_Shift_Del_p.G442fs|HTR7_uc001khb.3_3'UTR NM_019859 NP_062873 P34969 5HT7R_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA. 474 blood circulation|circadian rhythm integral to plasma membrane protein binding|serotonin receptor activity NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246) GAATCATGACCTTTTTTTCTA 0.328 ZDHHC16 84287 broad.mit.edu 37 10 99215505 99215507 + In_Frame_Del DEL AAG AAG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:99215504_99215506CAAG>C uc001knj.3 + 9 1278_1280 c.912_914CAAG>C c.(910-915)aacaag>aaCg p.K306del ZDHHC16_uc001knk.3_In_Frame_Del_p.K306del|ZDHHC16_uc001knl.3_In_Frame_Del_p.K290del|ZDHHC16_uc001knm.3_In_Frame_Del_p.K225del|ZDHHC16_uc001knn.3_In_Frame_Del_p.K267del|ZDHHC16_uc010qow.2_In_Frame_Del_p.K288del NM_198046 NP_932163 Q969W1 ZDH16_HUMAN Homo sapiens zinc finger, DHHC-type containing 16 (ZDHHC16), transcript variant 5, mRNA. 306 apoptosis endoplasmic reticulum membrane|integral to membrane acyltransferase activity|zinc ion binding kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 14 Colorectal(252;0.0846) Epithelial(162;5.81e-10)|all cancers(201;4.19e-08) GGCACATCAACAAGAAGGAGAGA 0.532 SORCS1 114815 broad.mit.edu 37 10 108447970 108447971 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:108447969_108447970T>TC uc001kyl.3 - 9 1722_1723 c.1540_1541A>GA c.(1540-1542)gacfs p.D514fs SORCS1_uc021pxw.1_Frame_Shift_Ins_p.D514fs|SORCS1_uc009xxs.3_Frame_Shift_Ins_p.D514fs|SORCS1_uc001kym.3_Frame_Shift_Ins_p.D514fs|SORCS1_uc001kyn.2_Frame_Shift_Ins_p.D514fs|SORCS1_uc001kyo.3_Frame_Shift_Ins_p.D514fs NM_001013031 NP_001013049 Q8WY21 SORC1_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA. 514 integral to membrane neuropeptide receptor activity|protein binding p.G513G(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GTGCACGGGGTCCCCCCTTAGA 0.490 ACSL5 51703 broad.mit.edu 37 10 114136115 114136117 + In_Frame_Del DEL GAA GAA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:114136114_114136116GGAA>G uc001kzu.3 + 0 159_161 c.47_49GGAA>G c.(46-51)gggaag>gGag p.K18del ACSL5_uc001kzs.3_Intron|ACSL5_uc001kzt.3_Intron NM_016234 NP_976314 Q9ULC5 ACSL5_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA. 0 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 p.G16V(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CACGAGCGAGGGAAGAAGGACAG 0.626 BUB3 9184 broad.mit.edu 37 10 124921819 124921821 + In_Frame_Del DEL AGA AGA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:124921818_124921820CAGA>C uc001lhe.2 + 5 885_887 c.643_645CAGA>C c.(643-645)cag>C p.Q215del BUB3_uc009yah.2_In_Frame_Del_p.Q167del|BUB3_uc001lhf.4_In_Frame_Del_p.Q215del|BUB3_uc001lhd.2_In_Frame_Del_p.Q215del|BUB3_uc010qud.1_In_Frame_Del_p.Q135del NM_004725 NP_004716 O43684 BUB3_HUMAN Homo sapiens budding uninhibited by benzimidazoles 3 homolog (yeast) (BUB3), transcript variant 1, mRNA. 215 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle condensed chromosome kinetochore|cytosol|nucleus protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 9 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) CCCTGAGGTACAGAAGAAGAAGT 0.389 C10orf137 26098 broad.mit.edu 37 10 127412385 127412385 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:127412384_127412384TA>T uc001liq.1 + 3 682 c.389_389TA>T c.(388-390)atafs p.I130fs C10orf137_uc001lin.3_Frame_Shift_Del_p.I130fs|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Frame_Shift_Del_p.I130fs NM_001202438 NP_001189367 Q3B7T1 EDRF1_HUMAN Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA. 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) TTTAAGAACATAAAAAAACTC 0.318 MTG1 92170 broad.mit.edu 37 10 135211971 135211971 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr10:135211970_135211970TA>T uc001lnd.3 + 3 418 c.314_314TA>T c.(313-315)ctafs p.L105fs MTG1_uc010qve.2_Frame_Shift_Del_p.L21fs NM_138384 NP_612393 Q9BT17 MTG1_HUMAN Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA. 105 mitochondrion GTP binding|protein binding endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 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;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06) GGAGAAGGCCTAAAAAATGTC 0.408 CTSD 1509 broad.mit.edu 37 11 1780830 1780831 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:1780829_1780830T>TG uc001luc.2 - 2 401_402 c.268_269A>CA c.(268-270)cagfs p.Q90fs MOB2_uc001ltq.2_Intron NM_001909 NP_001900 P07339 CATD_HUMAN Homo sapiens cathepsin D (CTSD), mRNA. 90 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity p.Q90fs*50(2) endometrium(1)|large_intestine(4)|lung(8) 13 all_epithelial(84;0.00018)|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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGTGAAGCACTGGGGGGGCGTC 0.649 DCHS1 8642 broad.mit.edu 37 11 6662142 6662142 + Frame_Shift_Del DEL G G - rs143767864 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:6662141_6662141CG>C uc001mem.1 - 1 1105 c.704_704CG>G c.(703-705)cggfs p.R235fs NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA. 235 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R235Q(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCCTCCGGGGGGGTGA 0.587 DENND5A 23258 broad.mit.edu 37 11 9171679 9171679 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:9171678_9171678CT>C uc001mhl.3 - 14 2942 c.2685_2685AG>G c.(2683-2685)aagfs p.K895fs DENND5A_uc001mhk.3_Frame_Shift_Del_p.K238fs|DENND5A_uc010rbw.2_Frame_Shift_Del_p.K895fs|DENND5A_uc010rbx.2_Non-coding_Transcript NM_015213 NP_056028 Q6IQ26 DEN5A_HUMAN Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA. 895 RUN 1. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TGGAAAGTAACTTTTTTTCCA 0.517 C11orf49 79096 broad.mit.edu 37 11 47074001 47074001 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:47074000_47074000AC>A uc001ndr.3 + 2 317 c.211_211AC>A c.(211-213)accfs p.T71fs C11orf49_uc001nds.3_Frame_Shift_Del_p.T71fs|C11orf49_uc001ndq.3_Frame_Shift_Del_p.T71fs|C11orf49_uc001ndp.3_Frame_Shift_Del_p.T71fs|C11orf49_uc010rgx.2_5'UTR|C11orf49_uc010rgy.2_Frame_Shift_Del_p.T62fs|C11orf49_uc010rgz.2_Intron NM_001003677 NP_001003677 Q9H6J7 CK049_HUMAN Homo sapiens chromosome 11 open reading frame 49 (C11orf49), transcript variant 2, mRNA. 71 central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1) 11 CGTCCAAGCCACCCCCCACAA 0.438 NR1H3 10062 broad.mit.edu 37 11 47282887 47282888 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:47282886_47282887A>AC uc009ylm.3 + 4 844_845 c.594_595A>AC c.(592-597)tcacccfs p.S198fs NR1H3_uc010rhk.2_Frame_Shift_Ins_p.S204fs|NR1H3_uc009yll.2_Frame_Shift_Ins_p.S204fs|NR1H3_uc001nek.3_Frame_Shift_Ins_p.S153fs|NR1H3_uc001nen.4_Frame_Shift_Ins_p.S198fs|NR1H3_uc001nem.3_Frame_Shift_Ins_p.S198fs NM_005693 NP_005684 Q13133 NR1H3_HUMAN Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA. 198 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 GGGCTTCCTCACCCCCCCAAAT 0.594 ZFP91 80829 broad.mit.edu 37 11 58377810 58377811 + Splice_Site INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:58377809_58377810T>TA uc001nmx.4 + 4 785 c.617_splice c.e4+2 p.S206_splice ZFP91_uc001nmy.4_Splice_Site_p.S206_splice|CNTF_uc010rkm.2_Splice_Site NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA. 206 Glu-rich. Missing (in Ref. 4; AAH51743). activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TGGCATTAGGTAAAAAAAACAT 0.312 GANAB 23193 broad.mit.edu 37 11 62407174 62407174 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:62407173_62407173TA>T uc001nua.3 - 1 102 c.69_69TA>A c.(67-69)ttafs p.L23fs GANAB_uc001nub.3_Frame_Shift_Del_p.L23fs|GANAB_uc001nuc.3_5'UTR|GANAB_uc010rma.2_Intron|GANAB_uc010rmb.2_Intron NM_198335 NP_938149 Q14697 GANAB_HUMAN Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA. 23 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding Golgi apparatus|endoplasmic reticulum lumen|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 GGCAGACCCCTAAAAAAGCCA 0.478 PHLDB1 23187 broad.mit.edu 37 11 118509928 118509928 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr11:118509927_118509927AG>A uc001ptr.2 + 12 3047 c.2694_2694AG>A c.(2692-2694)acafs p.T898fs PHLDB1_uc001pts.3_Frame_Shift_Del_p.T898fs|PHLDB1_uc001ptt.3_Frame_Shift_Del_p.T898fs|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Frame_Shift_Del_p.T698fs|PHLDB1_uc001ptw.2_Frame_Shift_Del_p.T300fs|PHLDB1_uc009zai.2_5'UTR|PHLDB1_uc001ptx.2_5'UTR|PHLDB1_uc010ryi.1_5'Flank|PHLDB1_uc010ryj.1_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA. 898 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 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) ACTCACTCACAGGGGGCAGGC 0.567 DYRK4 8798 broad.mit.edu 37 12 4719362 4719362 + Frame_Shift_Del DEL A A - rs80196697 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:4719361_4719361GA>G uc009zeh.1 + 12 1443 c.1401_1401GA>G c.(1399-1401)gggfs p.G467fs DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA. 352 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G754G(1) central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(7;0.103) ACAACAGGGGGAAAAAAAGAT 0.393 MAGOHB 55110 broad.mit.edu 37 12 10760484 10760484 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:10760483_10760483AT>A uc001qyq.2 - 3 394 c.317_317AT>T c.(316-318)atafs p.I106fs MAGOHB_uc001qyr.2_Non-coding_Transcript NM_018048 NP_060518 Q96A72 MGN2_HUMAN Homo sapiens mago-nashi homolog B (Drosophila) (MAGOHB), mRNA. 106 RNA splicing|mRNA processing|mRNA transport nucleus RNA binding breast(2)|large_intestine(2) 4 AAGAGAACCTATTTTTGATGT 0.294 ITPR2 3709 broad.mit.edu 37 12 26749901 26749901 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:26749900_26749900AT>A uc001rhg.3 - 30 4587 c.4170_4170AT>T c.(4168-4170)aatfs p.N1390fs NM_002223 NP_002214 Q14571 ITPR2_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA. 1390 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 ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CAGTGTAGACATTTTTCCCCT 0.527 PPFIBP1 8496 broad.mit.edu 37 12 27813829 27813829 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:27813828_27813828CA>C uc001ric.2 + 10 1293 c.916_916CA>C c.(916-918)caafs p.Q306fs PPFIBP1_uc010sjr.1_Frame_Shift_Del_p.Q134fs|PPFIBP1_uc001rib.2_Frame_Shift_Del_p.Q286fs|PPFIBP1_uc001ria.3_Frame_Shift_Del_p.Q275fs|PPFIBP1_uc001rid.2_Frame_Shift_Del_p.Q153fs NM_177444 NP_803193 Q86W92 LIPB1_HUMAN Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA. 306 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) CATCGAAGTACAAAAAATGAA 0.323 PRICKLE1 144165 broad.mit.edu 37 12 42853627 42853627 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:42853626_42853626AT>A uc010skv.2 - 7 2768 c.2481_2481AT>T c.(2479-2481)aatfs p.N827fs PRICKLE1_uc001rnl.3_Frame_Shift_Del_p.N827fs|PRICKLE1_uc010skw.2_Frame_Shift_Del_p.N827fs|PRICKLE1_uc001rnm.3_Frame_Shift_Del_p.N827fs|PRICKLE1_uc001rnk.1_5'Flank NM_001144881 NP_694571 Q96MT3 PRIC1_HUMAN Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA. 827 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 NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) AAATAATACAATTTTTGCCCT 0.398 ARID2 196528 broad.mit.edu 37 12 46245318 46245318 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:46245317_46245317AG>A uc001ros.1 + 14 3411 c.3411_3411AG>A c.(3409-3411)tcafs p.S1137fs ARID2_uc001ror.3_Frame_Shift_Del_p.S1137fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.S593fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.S764fs|ARID2_uc001rou.1_Frame_Shift_Del_p.S471fs NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1137 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TGCCACCCTCAGGGGGAGTAC 0.512 """N, S, F""" hepatocellular carcinoma MLL2 8085 broad.mit.edu 37 12 49431874 49431874 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:49431873_49431873AC>A uc001rta.4 - 33 9266 c.9266_9266GT>T c.(9265-9267)gtgfs p.V3089fs NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 3089 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding p.V2819fs*9(1)|p.V3089fs*9(1) NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 TCCTGGCTCCACCCCCCGCAG 0.627 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) MLL2 8085 broad.mit.edu 37 12 49445526 49445526 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:49445525_49445525TG>T uc001rta.4 - 9 1941 c.1941_1941CA>A c.(1939-1941)ccafs p.P647fs NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 647 15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding p.P647fs*38(1) NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 ATACCTCAGGTGGGGGGGACA 0.632 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) KRT73 319101 broad.mit.edu 37 12 53004574 53004574 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:53004573_53004573TC>T uc001sas.3 - 6 1192 c.1157_1157GA>A c.(1156-1158)gacfs p.D386fs NM_175068 NP_778238 Q86Y46 K2C73_HUMAN Homo sapiens keratin 73 (KRT73), mRNA. 386 Coil 2.|Rod. keratin filament structural molecule activity p.G385R(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) GAGGGCACAGTCCCCCCGCTG 0.657 OR9K2 441639 broad.mit.edu 37 12 55523807 55523808 + Frame_Shift_Ins INS - - T rs142523671 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:55523806_55523807A>AT uc010spe.2 + 0 254_255 c.254_255A>AT c.(253-255)tatfs p.Y85fs NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA. 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 ACACCAATGTATTTTTTCCTAG 0.386 OR9K2 441639 broad.mit.edu 37 12 55524128 55524128 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:55524127_55524127CT>C uc010spe.2 + 0 575 c.575_575CT>C c.(574-576)tctfs p.S192fs NM_001005243 NP_001005243 Q8NGE7 OR9K2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA. 192 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S192S(1) NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 TTTACTTTATCTTTTTGCGCT 0.413 OR6C4 341418 broad.mit.edu 37 12 55945307 55945307 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:55945306_55945306AT>A uc010spp.2 + 0 296 c.296_296AT>A c.(295-297)tatfs p.Y99fs NM_001005494 NP_001005494 Q8NGE1 OR6C4_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA. 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TTGACTCAGTATTTTTTTGCT 0.403 MBD6 114785 broad.mit.edu 37 12 57919556 57919556 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:57919555_57919555AC>A uc001soj.1 + 5 1028 c.804_804AC>A c.(802-804)acafs p.T268fs MBD6_uc001sok.1_Frame_Shift_Del_p.T135fs|MBD6_uc001sol.1_5'Flank NM_052897 NP_443129 Q96DN6 MBD6_HUMAN Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA. 268 Pro-rich. chromosome|nucleus DNA binding|chromatin binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 ATGCCTTAACACCCCCTCCCC 0.642 MBD6 114785 broad.mit.edu 37 12 57921401 57921401 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:57921400_57921400AC>A uc001soj.1 + 7 2417 c.2193_2193AC>A c.(2191-2193)agafs p.R731fs MBD6_uc001sok.1_Frame_Shift_Del_p.R598fs|MBD6_uc001sol.1_Non-coding_Transcript NM_052897 NP_443129 Q96DN6 MBD6_HUMAN Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA. 731 Pro-rich. chromosome|nucleus DNA binding|chromatin binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 ACTCAGGGAGACCCCCCCAAC 0.602 PPM1H 57460 broad.mit.edu 37 12 63195674 63195674 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:63195673_63195673TG>T uc001srk.3 - 2 828 c.679_679CA>A c.(679-681)acafs p.T227fs NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA. 227 PP2C-like. phosphoprotein phosphatase activity p.T227fs*12(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1) 18 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) AAGAAGCGTGTGGGGGGCGTG 0.642 PTPRR 5801 broad.mit.edu 37 12 71286727 71286727 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:71286726_71286726CA>C uc001swi.2 - 1 504 c.90_90TG>G c.(88-90)ttgfs p.L30fs NM_002849 NP_570897 Q15256 PTPRR_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA. 30 in utero embryonic development Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 41 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) GATTAATTGCCAAAAAATGAT 0.383 BBS10 79738 broad.mit.edu 37 12 76739905 76739905 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:76739904_76739904AT>A uc001syd.1 - 1 1945 c.1861_1861AT>T c.(1861-1863)tgcfs p.C621fs NM_024685 NP_078961 Q8TAM1 BBS10_HUMAN Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA. 621 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1) 19 GATTGATGGCATTTTTTGGCA 0.358 Bardet-Biedl syndrome KIAA1033 23325 broad.mit.edu 37 12 105556575 105556575 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:105556574_105556574TA>T uc010swr.2 + 29 3198 c.3111_3111TA>T c.(3109-3111)aatfs p.N1037fs KIAA1033_uc001tld.3_Frame_Shift_Del_p.N1036fs|KIAA1033_uc010sws.2_Frame_Shift_Del_p.N848fs NM_015275 NP_056090 Q2M389 WAHS7_HUMAN Homo sapiens KIAA1033 (KIAA1033), mRNA. 1036 endosome transport WASH complex breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 aaaaattaaataaaaaaaata 0.299 TMEM132D 121256 broad.mit.edu 37 12 130184705 130184705 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:130184704_130184704TG>T uc009zyl.1 - 1 947 c.619_619CA>A c.(619-621)acgfs p.T207fs NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 207 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCAACCACCGTGGGGGGGCTG 0.711 STX2 2054 broad.mit.edu 37 12 131283100 131283100 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr12:131283099_131283099CT>C uc001uio.3 - 8 924 c.757_757AG>G c.(757-759)gctfs p.A253fs STX2_uc001uip.3_Frame_Shift_Del_p.A253fs|STX2_uc010tbj.2_Frame_Shift_Del_p.A253fs NM_194356 NP_919337 P32856 STX2_HUMAN Homo sapiens syntaxin 2 (STX2), transcript variant 2, mRNA. 253 t-SNARE coiled-coil homology. acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction SNAP receptor activity|calcium-dependent protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1) 16 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) TATTTGATAGCTTTTTTTGTT 0.338 BRCA2 675 broad.mit.edu 37 13 32911322 32911323 + Frame_Shift_Ins INS - - A rs80359356 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:32911321_32911322T>TA uc001uub.1 + 10 3056_3057 c.2829_2830T>TA c.(2827-2832)attaaafs p.I943fs NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 943 Interaction with NPM1. 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 H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 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) AAGTGTCAATTAAAAAAGATTT 0.347 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) PDS5B 23047 broad.mit.edu 37 13 33344286 33344286 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:33344285_33344285GA>G uc010abf.3 + 31 3837 c.3651_3651GA>G c.(3649-3651)aggfs p.R1217fs PDS5B_uc010abg.3_Non-coding_Transcript NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA. 1217 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 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) CTAGAGGCAGGAAAAAAACGC 0.388 SPG20 23111 broad.mit.edu 37 13 36909272 36909273 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:36909271_36909272C>CA uc001uvn.3 - 2 966_967 c.696_697G>TG c.(694-699)tttgtafs p.F232fs SPG20_uc010ten.2_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvm.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvo.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvq.3_Frame_Shift_Ins_p.F232fs|SPG20_uc001uvp.2_Frame_Shift_Ins_p.F232fs NM_001142296 NP_055902 Q8N0X7 SPG20_HUMAN Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA. 232 cell death cytoplasm ubiquitin protein ligase binding p.F231C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) GCAGGATTTACAAAAAAAATCT 0.436 DZIP1 22873 broad.mit.edu 37 13 96241464 96241464 + Splice_Site DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:96241463_96241463TA>T uc001vmk.3 - 19 2826 c.1974_splice c.e19-1 p.K658_splice DZIP1_uc001vmj.3_Splice_Site_p.K134_splice|DZIP1_uc001vml.3_Splice_Site_p.K639_splice NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 658 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TTCTTAATTCTAAAAAAACAA 0.279 F7 2155 broad.mit.edu 37 13 113771113 113771114 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr13:113771112_113771113G>GA uc001vsv.3 + 6 655_656 c.604_605G>GA c.(604-606)gaafs p.E202fs F7_uc010agp.1_Frame_Shift_Ins_p.E195fs|F7_uc001vsw.3_Frame_Shift_Ins_p.E180fs|F7_uc010tjt.2_Frame_Shift_Ins_p.E133fs NM_000131 NP_000122 P08709 FA7_HUMAN Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA. 202 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 Golgi lumen|endoplasmic reticulum lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 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) ACCTATTCTAGAAAAAAGAAAT 0.470 OR4K5 79317 broad.mit.edu 37 14 20389294 20389294 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:20389293_20389293CT>C uc010tkw.2 + 0 528 c.528_528CT>C c.(526-528)agcfs p.S176fs NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TAGTAGACAGCTTTTTTTGTG 0.418 OSGEP 55644 broad.mit.edu 37 14 20915788 20915788 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:20915787_20915787CA>C uc001vxf.3 - 8 1281 c.856_856TG>G c.(856-858)gctfs p.A286fs NM_017807 NP_060277 Q9NPF4 OSGEP_HUMAN Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA. 286 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1) 11 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) TCATCTGTAGCAAAAAGCCGG 0.433 PNN 5411 broad.mit.edu 37 14 39650339 39650344 + In_Frame_Del DEL CCTCAG CCTCAG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:39650338_39650343ACCTCAG>A uc001wuw.4 + 8 1522_1527 c.1425_1430ACCTCAG>A c.(1423-1431)caacctcag>caAg p.475_477QPQ>Q NM_002687 NP_002678 Q9H307 PININ_HUMAN Homo sapiens pinin, desmosome associated protein (PNN), mRNA. 475 Gln-rich. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) CTGTGGCTcaacctcagcctcagtct 0.495 FAM179B 23116 broad.mit.edu 37 14 45432122 45432122 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:45432121_45432121AG>A uc001wvw.3 + 0 706 c.497_497AG>A c.(496-498)cagfs p.Q166fs FAM179B_uc001wvv.3_Frame_Shift_Del_p.Q166fs|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Frame_Shift_Del_p.Q166fs|FAM179B_uc001wvu.3_Frame_Shift_Del_p.Q166fs NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA. 166 binding endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 45 CTCCGGGGTCAGGGGGAGGCA 0.557 C14orf149 112849 broad.mit.edu 37 14 59946072 59946072 + Splice_Site DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:59946071_59946071TA>T uc001xee.1 - 2 548 c.509_splice c.e2-1 p.D170_splice C14orf149_uc010trx.1_Intron NM_144581 NP_653182 Q96EM0 PRCM_HUMAN Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA. 170 proline racemase activity kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.14) L-Proline(DB00172) CCATGAGATCTAAAAAAAAGA 0.333 C14orf43 91748 broad.mit.edu 37 14 74206606 74206606 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:74206605_74206605TG>T uc010tud.1 - 0 354 c.107_107CA>A c.(106-108)cagfs p.Q36fs C14orf43_uc001xot.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc001xou.3_Frame_Shift_Del_p.Q36fs|C14orf43_uc010arw.2_Non-coding_Transcript NM_194278 NP_919254 Q6PJG2 CN043_HUMAN Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA. 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4) 37 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) GATGGACTGCTGGGGGGGCTG 0.667 WDR20 91833 broad.mit.edu 37 14 102675067 102675068 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr14:102675066_102675067G>GC uc010txu.2 + 3 724_725 c.652_653G>GC c.(652-654)gccfs p.A218fs WDR20_uc001ylf.3_Frame_Shift_Ins_p.A199fs|WDR20_uc001ykz.3_Frame_Shift_Ins_p.A187fs|WDR20_uc001yky.2_Intron|WDR20_uc001yla.3_3'UTR|WDR20_uc001ylb.3_Frame_Shift_Ins_p.A126fs|WDR20_uc001ylc.3_Intron|WDR20_uc001yle.3_Frame_Shift_Ins_p.A126fs|WDR20_uc001yld.3_Frame_Shift_Ins_p.A187fs NM_001242417 NP_001229346 Q8TBZ3 WDR20_HUMAN Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA. 187 breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 TGGCACCACAGCCCCCCACTAC 0.540 ZSCAN29 146050 broad.mit.edu 37 15 43653444 43653445 + Frame_Shift_Del DEL CA CA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:43653443_43653444CCA>C uc001zrk.1 - 4 2533_2534 c.2386_2387TGG>G c.(2386-2388)ggafs p.G796fs ZSCAN29_uc001zrj.1_Frame_Shift_Del_p.G676fs|ZSCAN29_uc010bdg.1_Frame_Shift_Del_p.G406fs|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA. 796 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 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;8.97e-07) GAAACTCTTTCCACAGTCAGGA 0.441 HERC1 8925 broad.mit.edu 37 15 63922683 63922683 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:63922682_63922682TC>T uc002amp.3 - 68 13097 c.12949_12949GA>A c.(12949-12951)agcfs p.S4317fs NM_003922 NP_003913 Q15751 HERC1_HUMAN Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA. 4317 protein modification process|transport Golgi apparatus|cytosol|membrane ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 TCTGAATTGCTCCCCCAGGCA 0.438 TBC1D2B 23102 broad.mit.edu 37 15 78317749 78317749 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:78317748_78317748AT>A uc002bcy.4 - 4 939 c.939_939AT>T c.(937-939)aatfs p.N313fs TBC1D2B_uc010bla.3_Frame_Shift_Del_p.N313fs NM_144572 NP_653173 Q9UPU7 TBD2B_HUMAN Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA. 313 intracellular Rab GTPase activator activity|protein binding breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 TGCTGTGACGATTTTTGTACG 0.507 CHD2 1106 broad.mit.edu 37 15 93540530 93540531 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr15:93540529_93540530T>TG uc002bsp.3 + 29 4356_4357 c.3781_3782T>TG c.(3781-3783)tggfs p.W1261fs CHD2_uc002bso.1_Frame_Shift_Ins_p.W1261fs NM_001271 NP_001262 O14647 CHD2_HUMAN Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA. 1261 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TGATGTAGAGTGGGGGGTGGAA 0.411 PIGQ 9091 broad.mit.edu 37 16 633473 633473 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:633472_633472AC>A uc002cho.3 + 9 2259 c.2121_2121AC>A c.(2119-2121)gaafs p.E707fs PIGQ_uc010bqw.3_3'UTR|PIGQ_uc002chn.3_3'UTR|PIGQ_uc010uui.2_3'UTR|PIGQ_uc002chp.3_Frame_Shift_Del_p.E277fs|PIGQ_uc010uuj.2_Frame_Shift_Del_p.V105fs NM_148920 NP_683721 Q9BRB3 PIGQ_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA. 707 C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) GCCAGGATGAACCCCCCAGTC 0.701 JMJD8 339123 broad.mit.edu 37 16 733220 733220 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:733219_733219AC>A uc002ciw.1 - 6 647 c.590_590GT>T c.(589-591)gtgfs p.V197fs JMJD8_uc002ciy.1_Frame_Shift_Del_p.V167fs NM_001005920 NP_001005920 Q96S16 JMJD8_HUMAN Homo sapiens jumonji domain containing 8 (JMJD8), mRNA. 246 breast(1) 1 GTGGAAGGGCACCCCCGAGCC 0.597 SRRM2 23524 broad.mit.edu 37 16 2813626 2813627 + Frame_Shift_Ins INS - - CT rs144062030 by1000genomes TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:2813625_2813626C>CCT uc002crk.3 + 10 3645_3646 c.3096_3097C>CCT c.(3094-3099)tccctcfs p.S1032fs SRRM2_uc002crj.1_Frame_Shift_Ins_p.S936fs|SRRM2_uc002crl.1_Frame_Shift_Ins_p.S1032fs|SRRM2_uc010bsu.1_Frame_Shift_Ins_p.S936fs NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 1032 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GCCCTGGATCCCTCTCTCTCTG 0.480 EEF2K 29904 broad.mit.edu 37 16 22262606 22262606 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:22262605_22262605TG>T uc002dki.3 + 5 1065 c.580_580TG>T c.(580-582)tggfs p.W194fs EEF2K_uc002dkh.3_Non-coding_Transcript NM_013302 NP_037434 O00418 EF2K_HUMAN Homo sapiens eukaryotic elongation factor-2 kinase (EEF2K), mRNA. 194 Alpha-type protein kinase. insulin receptor signaling pathway|translational elongation cytosol ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(48;0.0223) GGCCAAGCTCTGGGGGGAGGA 0.622 IL4R 3566 broad.mit.edu 37 16 27374719 27374719 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:27374718_27374718CG>C uc002don.3 + 10 2287 c.2045_2045CG>C c.(2044-2046)ccgfs p.P682fs IL4R_uc002dop.4_Frame_Shift_Del_p.P667fs|IL4R_uc010bxy.3_Frame_Shift_Del_p.P682fs|IL4R_uc002doo.3_Frame_Shift_Del_p.P522fs NM_000418 NP_000409 P24394 IL4RA_HUMAN Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA. 682 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 GGTCTGGAGCCGGGGGAAAAG 0.627 SEZ6L2 26470 broad.mit.edu 37 16 29884572 29884572 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:29884571_29884571TG>T uc010vec.2 - 13 2723 c.2478_2478CA>A c.(2476-2478)ccafs p.P826fs BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Frame_Shift_Del_p.P756fs|SEZ6L2_uc002dur.4_Frame_Shift_Del_p.P756fs|SEZ6L2_uc002duq.4_Frame_Shift_Del_p.P826fs|SEZ6L2_uc010ved.2_Frame_Shift_Del_p.P782fs|SEZ6L2_uc002dus.4_Frame_Shift_Del_p.P712fs NM_001243332 NP_001230261 Q6UXD5 SE6L2_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA. 826 Sushi 5. endoplasmic reticulum membrane|integral to membrane|plasma membrane breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTTTGCAGAGTGGGGGCTGGC 0.617 ALDOA 226 broad.mit.edu 37 16 30078940 30078941 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:30078939_30078940T>TC uc010veg.2 + 3 711_712 c.443_444T>TC c.(442-444)ttcfs p.F148fs BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Frame_Shift_Ins_p.F94fs|ALDOA_uc002dvw.3_Frame_Shift_Ins_p.F94fs|ALDOA_uc002dvz.3_Frame_Shift_Ins_p.F94fs|ALDOA_uc002dwa.4_Frame_Shift_Ins_p.F94fs|ALDOA_uc002dwc.3_Frame_Shift_Ins_p.F94fs NM_001243177 NP_001230106 P04075 ALDOA_HUMAN Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA. 94 ATP biosynthetic process|actin filament organization|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction I band|actin cytoskeleton|cytosol|extracellular vesicular exosome|platelet alpha granule lumen actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 17 GGGCGTCCCTTCCCCCAAGTTA 0.574 SETD1A 9739 broad.mit.edu 37 16 30995289 30995291 + In_Frame_Del DEL ACA ACA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:30995288_30995290GACA>G uc002ead.1 + 18 5754_5756 c.5068_5070GACA>G c.(5068-5070)gac>G p.D1690del HSD3B7_uc002eaf.2_5'Flank|HSD3B7_uc010cac.2_5'Flank|HSD3B7_uc002eag.2_5'Flank|HSD3B7_uc002eah.2_5'Flank NM_014712 NP_055527 O15047 SET1A_HUMAN Homo sapiens SET domain containing 1A (SETD1A), mRNA. 1690 regulation of transcription, DNA-dependent|transcription, DNA-dependent Set1C/COMPASS complex|chromosome|nuclear speck RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CCCACTGGAAGACAACAAGATCC 0.567 ZNF668 79759 broad.mit.edu 37 16 31072706 31072707 + Frame_Shift_Ins INS - - G rs77284397 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:31072705_31072706T>TG uc021tgt.1 - 3 1968_1969 c.1612_1613A>CA c.(1612-1614)cagfs p.Q538fs ZNF668_uc010cag.2_Frame_Shift_Ins_p.Q515fs|ZNF668_uc010caf.3_Frame_Shift_Ins_p.Q515fs|ZNF668_uc002eao.3_Frame_Shift_Ins_p.Q515fs NM_001172669 NP_078982 Q96K58 ZN668_HUMAN Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA. 515 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 GCACACAAACTGGGGGGGCTTC 0.663 PRSS53 339105 broad.mit.edu 37 16 31098131 31098131 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:31098130_31098130AC>A uc002eaq.3 - 3 332 c.332_332GT>T c.(331-333)gtgfs p.V111fs PRSS53_uc002ear.3_5'UTR NM_001039503 NP_001034592 Q2L4Q9 PRS53_HUMAN Homo sapiens protease, serine, 53 (PRSS53), mRNA. 111 Peptidase S1 1. proteolysis extracellular region serine-type endopeptidase activity large_intestine(1)|lung(3) 4 CAGGGCAGCCACCCCCACCTC 0.652 NLRC5 84166 broad.mit.edu 37 16 57060196 57060196 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:57060195_57060195GC>G uc021tiu.1 + 4 1467 c.1340_1340GC>G c.(1339-1341)agcfs p.S447fs NLRC5_uc021tit.1_Frame_Shift_Del_p.S447fs|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Frame_Shift_Del_p.S252fs|NLRC5_uc021tiw.1_Frame_Shift_Del_p.S252fs|NLRC5_uc010ccr.1_Non-coding_Transcript NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA. 447 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|RNA polymerase II core promoter sequence-specific DNA binding|protein binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CTCGCCCTCAGCCCCCCTGGG 0.607 CDH3 1001 broad.mit.edu 37 16 68732248 68732248 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:68732247_68732247TG>T uc002ewf.2 + 15 3566 c.2434_2434TG>T c.(2434-2436)tggfs p.W812fs CDH3_uc010vli.1_Frame_Shift_Del_p.W757fs NM_001793 NP_001784 P22223 CADH3_HUMAN Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA. 812 adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TCTGAACGAGTGGGGCAGCCG 0.637 DDX19B 11269 broad.mit.edu 37 16 70398964 70398964 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:70398963_70398963GA>G uc002eys.3 + 6 665 c.536_536GA>G c.(535-537)ggafs p.G179fs DDX19B_uc010cfq.1_Intron|DDX19B_uc010cfs.3_5'UTR|DDX19B_uc010vlz.2_Frame_Shift_Del_p.G147fs|DDX19B_uc002eyv.3_Frame_Shift_Del_p.G178fs|DDX19B_uc010cfr.3_Frame_Shift_Del_p.G28fs|DDX19B_uc010vma.2_Frame_Shift_Del_p.G88fs NM_007242 NP_009173 Q9UMR2 DD19B_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA. 179 Helicase ATP-binding. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|RNA binding|protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) CTTCAAACAGGAAAAGTGATT 0.458 ZFHX3 463 broad.mit.edu 37 16 72830903 72830904 + Frame_Shift_Del DEL CT CT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:72830902_72830903CCT>C uc002fck.3 - 8 6351_6352 c.5678_5679AGG>G c.(5677-5679)aggfs p.R1893fs ZFHX3_uc002fcl.3_Frame_Shift_Del_p.R979fs NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 1893 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 NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CGGCGCTGTCCCTCTCTCTCTG 0.540 ADAMTS18 170692 broad.mit.edu 37 16 77396098 77396109 + In_Frame_Del DEL CAGACTGCCATT CAGACTGCCATT - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:77396097_77396108GCAGACTGCCATT>G uc002ffc.4 - 6 1529_1540 c.1110_1121AATGGCAGTCTGC>C c.(1108-1122)caatggcagtctgcc>caCc p.370_374QWQSA>H ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_In_Frame_Del_p.66_70QWQSA>H|ADAMTS18_uc010vni.1_Intron NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 370 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.W371L(2)|p.S373Y(2)|p.C369Y(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TCCAATGAGGGCAGACTGCCATTGACAAAAAC 0.406 KIAA0182 23199 broad.mit.edu 37 16 85682290 85682291 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr16:85682289_85682290A>AC uc002fix.3 + 2 432_433 c.358_359A>AC c.(358-360)accfs p.T120fs KIAA0182_uc002fiw.3_Frame_Shift_Ins_p.T16fs|KIAA0182_uc002fiy.3_Frame_Shift_Ins_p.T47fs NM_014615 NP_055430 Q14687 GSE1_HUMAN Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA. 120 protein binding p.V123fs*2(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 35 CGTGCCCAGCACCCCCCCCGTG 0.688 PRPF8 10594 broad.mit.edu 37 17 1562781 1562781 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:1562780_1562780TC>T uc002fte.3 - 31 5123 c.5009_5009GA>A c.(5008-5010)gacfs p.D1670fs NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 1670 Involved in interaction with pre-mRNA 5' splice site. U5 snRNP|catalytic step 2 spliceosome|nuclear speck RNA binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GGAATCATAGTCCCCCCAGCG 0.532 P2RX1 5023 broad.mit.edu 37 17 3819462 3819462 + Frame_Shift_Del DEL G G - rs35715771 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:3819461_3819461CG>C uc002fww.3 - 0 500 c.59_59CG>G c.(58-60)cgcfs p.R20fs P2RX1_uc010ckm.1_5'UTR NM_002558 NP_002549 P51575 P2RX1_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA. 20 platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2) 13 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) CAGCACCATGCGGGGGGTGTC 0.652 PFAS 5198 broad.mit.edu 37 17 8167585 8167586 + Frame_Shift_Ins INS - - C rs138697840 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:8167584_8167585G>GC uc002gkr.3 + 15 1987_1988 c.1846_1847G>GC c.(1846-1848)gccfs p.A616fs PFAS_uc010vuv.2_Frame_Shift_Ins_p.A192fs|PFAS_uc010cnw.1_Frame_Shift_Ins_p.A116fs|PFAS_uc002gks.3_5'Flank NM_012393 NP_036525 O15067 PUR4_HUMAN Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA. 616 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCAGGGGGATGCCCCCCCGACA 0.594 MYH10 4628 broad.mit.edu 37 17 8455425 8455425 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:8455424_8455424CT>C uc002glm.3 - 8 955 c.859_859AG>G c.(859-861)gatfs p.D287fs MYH10_uc002gll.3_Frame_Shift_Del_p.D277fs|MYH10_uc010cnx.3_Frame_Shift_Del_p.D286fs|MYH10_uc010cny.1_Non-coding_Transcript NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 277 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 GTACGTTCATCTTTTGCTTGA 0.323 MYH3 4621 broad.mit.edu 37 17 10555836 10555837 + Frame_Shift_Ins INS - - G rs139160750 TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:10555835_10555836T>TG uc002gmq.2 - 3 337_338 c.249_250A>CA c.(247-252)cccaagfs p.P83fs NM_002470 NP_002461 P11055 MYH3_HUMAN Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA. 83 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity p.K84I(1)|p.K84K(1)|p.K84M(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CTGTCGAACTTGGGGGGGTTCA 0.495 FOXN1 8456 broad.mit.edu 37 17 26864250 26864250 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:26864249_26864249TC>T uc010crm.3 + 8 1940 c.1742_1742TC>T c.(1741-1743)ttcfs p.F581fs FOXN1_uc002hbj.3_Frame_Shift_Del_p.F581fs NM_003593 NP_003584 O15353 FOXN1_HUMAN Homo sapiens forkhead box N1 (FOXN1), mRNA. 581 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus 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 endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) CCTCACTGCTTCCCCCCTGGG 0.647 SSH2 85464 broad.mit.edu 37 17 27959375 27959375 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:27959374_27959374TG>T uc002heo.1 - 14 2757 c.2757_2757CA>A c.(2755-2757)ccafs p.P919fs SSH2_uc010wbh.1_Frame_Shift_Del_p.P946fs NM_033389 NP_203747 Q76I76 SSH2_HUMAN Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA. 919 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATGAATGTTCTGGGGGGGCTT 0.478 MMP28 79148 broad.mit.edu 37 17 34106048 34106049 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:34106047_34106048C>CT uc002hjy.1 - 2 482_483 c.223_224G>AG c.(223-225)agcfs p.S75fs MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript|MMP28_uc002hka.3_Frame_Shift_Ins_p.S75fs NM_024302 NP_077278 Q9H239 MMP28_HUMAN Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA. 75 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5) 16 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) CAACACGCCGCTGACAGGTAGC 0.624 KRT33A 3883 broad.mit.edu 37 17 39506948 39506948 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:39506947_39506947TG>T uc002hwk.1 - 0 110 c.73_73CA>A c.(73-75)agcfs p.S25fs NM_004138 NP_004129 O76009 KT33A_HUMAN Homo sapiens keratin 33A (KRT33A), mRNA. 25 Head. intermediate filament protein binding|structural molecule activity p.P24T(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 21 Breast(137;0.000496) CCGTGGCAGCTGGGGGGCACA 0.642 XYLT2 64132 broad.mit.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:48433966_48433966AC>A uc002iqo.3 + 7 1686 c.1577_1577AC>A c.(1576-1578)tacfs p.Y526fs XYLT2_uc010dbo.3_Non-coding_Transcript NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN Homo sapiens xylosyltransferase II (XYLT2), mRNA. 526 glycosaminoglycan biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.G529fs*17(1) endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1) 12 Breast(11;7.18e-19) TATGGCAGCTACCCCCCCGGC 0.602 WFIKKN2 124857 broad.mit.edu 37 17 48917254 48917254 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:48917253_48917253AC>A uc002isv.4 + 1 1298 c.604_604AC>A c.(604-606)accfs p.T202fs WFIKKN2_uc010dbu.3_Frame_Shift_Del_p.T109fs NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA. 202 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CTCCCCAGAGACCCCTGAGCT 0.632 KIAA0195 9772 broad.mit.edu 37 17 73487871 73487871 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:73487870_73487870GC>G uc010wsa.2 + 12 1707 c.1515_1515GC>G c.(1513-1515)aagfs p.K505fs KIAA0195_uc002jnz.4_Frame_Shift_Del_p.K495fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.K151fs NM_014738 NP_055553 Q12767 K0195_HUMAN Homo sapiens KIAA0195 (KIAA0195), mRNA. 495 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) AGGCTCCCAAGCCCCCCGAGC 0.627 KIAA0195 9772 broad.mit.edu 37 17 73491063 73491063 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:73491062_73491062TC>T uc010wsa.2 + 18 2897 c.2705_2705TC>T c.(2704-2706)atcfs p.I902fs KIAA0195_uc002jnz.4_Frame_Shift_Del_p.I892fs|KIAA0195_uc010wsb.2_Frame_Shift_Del_p.I532fs|KIAA0195_uc002job.4_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN Homo sapiens KIAA0195 (KIAA0195), mRNA. 892 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGCTCCGAGATCCCCCCCTCC 0.612 CASKIN2 57513 broad.mit.edu 37 17 73498973 73498974 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr17:73498972_73498973T>TG uc002joc.3 - 17 2732_2733 c.2182_2183A>CA c.(2182-2184)cagfs p.Q728fs CASKIN2_uc010wsc.2_Frame_Shift_Ins_p.Q646fs NM_020753 NP_001136115 Q8WXE0 CSKI2_HUMAN Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA. 728 Pro-rich. cytoplasm p.Q728fs*74(2) endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GTTCCTCTCCTGGGGGGGGCTG 0.649 CTAGE1 64693 broad.mit.edu 37 18 19995553 19995553 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr18:19995552_19995552TG>T uc002ktv.1 - 0 2327 c.2223_2223CA>A c.(2221-2223)ccafs p.P741fs NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA. 741 Pro-rich. integral to membrane p.P740L(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 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) ATGTGGGGGCTGGGGGGAAAA 0.493 SAFB 6294 broad.mit.edu 37 19 5667115 5667116 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:5667114_5667115T>TG uc002mcg.3 + 17 2563_2564 c.2392_2393T>TG c.(2392-2394)tggfs p.W798fs SAFB_uc002mcf.3_Frame_Shift_Ins_p.W798fs|SAFB_uc002mce.4_Frame_Shift_Ins_p.W797fs|SAFB_uc010xis.2_Frame_Shift_Ins_p.W729fs|SAFB_uc010xit.2_Frame_Shift_Ins_p.W640fs|SAFB_uc010xir.2_Frame_Shift_Ins_p.W797fs|SAFB_uc010xiu.2_Frame_Shift_Ins_p.W597fs NM_001201338 NP_001188267 Q15424 SAFB1_HUMAN Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA. 798 Arg-rich.|Gly-rich.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|double-stranded DNA binding|nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) CCGCGATGGCTGGGGGGGCTAT 0.644 FUT3 2525 broad.mit.edu 37 19 5844464 5844465 + Frame_Shift_Ins INS - - C TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:5844463_5844464G>GC uc002mdk.2 - 1 484_485 c.387_388C>GC c.(385-390)gggcagfs p.G129fs FUT3_uc002mdm.2_Frame_Shift_Ins_p.G129fs|FUT3_uc002mdj.2_Frame_Shift_Ins_p.G129fs|FUT3_uc002mdl.2_Frame_Shift_Ins_p.G129fs|FUT3_uc021unn.1_Frame_Shift_Ins_p.G129fs NM_001097641 NP_001091110 P21217 FUT3_HUMAN Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA. 129 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 ATCCAGCGCTGCCCCTGCGGCC 0.594 C3 718 broad.mit.edu 37 19 6697481 6697481 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:6697480_6697480TG>T uc002mfm.3 - 20 2733 c.2671_2671CA>A c.(2671-2673)aagfs p.K891fs NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 891 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AACGAGGACTTGGGGGGGATG 0.577 TIMM44 10469 broad.mit.edu 37 19 8002975 8002975 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:8002974_8002974AT>A uc002miz.3 - 2 422 c.250_250AT>T c.(250-252)ttcfs p.F84fs TIMM44_uc010dvx.2_Non-coding_Transcript NM_006351 NP_006342 O43615 TIM44_HUMAN Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA. 84 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 TCGTCACGGAATTTTTTTATA 0.413 ZNF490 57474 broad.mit.edu 37 19 12693682 12693682 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:12693681_12693681GT>G uc002mtz.2 - 3 462 c.333_333AC>C c.(331-333)aacfs p.N111fs NM_020714 NP_065765 Q9ULM2 ZN490_HUMAN Homo sapiens zinc finger protein 490 (ZNF490), mRNA. 111 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 TTCTTCCCTGGTTTTTGTGTT 0.313 ZNF208 7757 broad.mit.edu 37 19 22157493 22157493 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:22157492_22157492AT>A uc021urr.1 - 3 493 c.344_344AT>T c.(343-345)attfs p.I115fs ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GGTATAACCAATTTTTAAGTG 0.368 ZNF585A 199704 broad.mit.edu 37 19 37644081 37644082 + Frame_Shift_Del DEL TC TC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:37644080_37644081GTC>G uc002ofo.1 - 4 951_952 c.720_721GAC>C c.(718-723)agacacfs p.R240fs ZNF585A_uc002ofm.1_Frame_Shift_Del_p.R185fs|ZNF585A_uc002ofn.1_Frame_Shift_Del_p.R185fs NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA. 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATTCATGGTGTCTCTCTCCAG 0.421 ZFP30 22835 broad.mit.edu 37 19 38127036 38127036 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:38127035_38127035AT>A uc002ogv.1 - 5 923 c.407_407AT>T c.(406-408)atgfs p.M136fs ZFP30_uc002ogw.1_Frame_Shift_Del_p.M136fs|ZFP30_uc002ogx.1_Frame_Shift_Del_p.M136fs|ZFP30_uc010xtt.1_Frame_Shift_Del_p.M135fs NM_014898 NP_055713 Q9Y2G7 ZFP30_HUMAN Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA. 136 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTAAGTAGGCATTTTTTCAGA 0.403 CIC 23152 broad.mit.edu 37 19 42794441 42794441 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:42794440_42794440GC>G uc002otf.1 + 9 1560 c.1520_1520GC>G c.(1519-1521)cgcfs p.R507fs NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) ACCCACTGCCGCCCCCCACTG 0.622 """Mis, F, S""" oligodendroglioma CIC 23152 broad.mit.edu 37 19 42794627 42794627 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:42794626_42794626GC>G uc002otf.1 + 9 1746 c.1706_1706GC>G c.(1705-1707)ggcfs p.G569fs NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 569 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) AGCACAGCGGGCCCCCTACGG 0.677 """Mis, F, S""" oligodendroglioma ZNF180 7733 broad.mit.edu 37 19 44982020 44982020 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:44982019_44982019AT>A uc002ozf.4 - 4 961 c.679_679AT>T c.(679-681)tggfs p.W227fs ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Frame_Shift_Del_p.W200fs|ZNF180_uc002ozg.4_Frame_Shift_Del_p.W226fs|ZNF180_uc010ejm.3_Frame_Shift_Del_p.W202fs NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN Homo sapiens zinc finger protein 180 (ZNF180), mRNA. 227 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) TTAAGATGCCATTTTTTAGCA 0.368 LMTK3 114783 broad.mit.edu 37 19 49000732 49000733 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:49000731_49000732T>TG uc002pjk.3 - 11 3681_3682 c.3681_3682A>CA c.(3679-3684)cccaagfs p.P1227fs NM_001080434 NP_001073903 Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA. breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) CTCTCGGGCTTGGGGGGGTCCC 0.708 NTF4 4909 broad.mit.edu 37 19 49564798 49564798 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:49564797_49564797GC>G uc002pmf.4 - 1 594 c.458_458GC>C c.(457-459)gcafs p.A153fs NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Frame_Shift_Del_p.A153fs NM_006179 NP_006170 P34130 NTF4_HUMAN Homo sapiens neurotrophin 4 (NTF4), mRNA. 153 adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity kidney(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) CCCTCCACCTGCCCCCGGGCC 0.652 LILRB1 10859 broad.mit.edu 37 19 55143504 55143506 + In_Frame_Del DEL AGG AGG - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:55143503_55143505AAGG>A uc002qgj.3 + 5 816_818 c.476_478AAGG>A c.(475-480)gaagga>gAga p.G160del LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_In_Frame_Del_p.G160del|LILRB1_uc002qgk.3_In_Frame_Del_p.G160del|LILRB1_uc002qgm.3_In_Frame_Del_p.G160del|LILRB1_uc010erq.3_In_Frame_Del_p.G160del|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 160 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CTGTGTAAGGAAGGAGAAGATGA 0.606 HNSCC(37;0.09) EPS8L1 54869 broad.mit.edu 37 19 55593836 55593837 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr19:55593835_55593836C>CG uc002qis.4 + 11 1183_1184 c.1079_1080C>CG c.(1078-1080)tcgfs p.S360fs EPS8L1_uc010ess.1_Frame_Shift_Ins_p.S342fs|EPS8L1_uc010est.1_Frame_Shift_Ins_p.S360fs|EPS8L1_uc010yfr.2_Frame_Shift_Ins_p.S296fs|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Frame_Shift_Ins_p.S233fs|EPS8L1_uc002qiv.3_Frame_Shift_Ins_p.S6fs|EPS8L1_uc002qiw.3_Frame_Shift_Ins_p.S107fs NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA. 360 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GTGAACACGTCGGGGGGGCCGG 0.663 ISM1 140862 broad.mit.edu 37 20 13260475 13260475 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:13260474_13260474AC>A uc010gce.1 + 2 578 c.572_572AC>A c.(571-573)aacfs p.N191fs TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA. 191 extracellular region p.L190I(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1) 17 AACTTCCTCAACCCCCCCAGG 0.552 ESF1 51575 broad.mit.edu 37 20 13763492 13763492 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:13763491_13763491GT>G uc002woj.3 - 1 404 c.296_296AC>C c.(295-297)accfs p.T99fs ESF1_uc002wok.1_Frame_Shift_Del_p.T99fs|NDUFAF5_uc002woo.3_5'Flank|NDUFAF5_uc002wom.3_5'Flank|NDUFAF5_uc002won.3_5'Flank NM_016649 NP_057733 Q9H501 ESF1_HUMAN Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA. 99 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|nucleoplasm endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1) 31 TTTAGTCTGGGTTTTTTTCTT 0.323 PLAGL2 5326 broad.mit.edu 37 20 30789952 30789952 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:30789951_30789951AG>A uc002wxn.2 - 1 248 c.31_31CT>T c.(31-33)tggfs p.W11fs NM_002657 NP_002648 Q9UPG8 PLAL2_HUMAN Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA. 11 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TCTTGAATCCAGGGGGGGACG 0.557 NDRG3 57446 broad.mit.edu 37 20 35284817 35284817 + Splice_Site DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:35284816_35284816TG>T uc002xfw.3 - 15 1037 c.895_splice c.e15-1 p.P299_splice NDRG3_uc002xfx.3_Splice_Site_p.P287_splice|NDRG3_uc010zvq.2_Splice_Site_p.P204_splice|NDRG3_uc010zvr.2_Splice_Site_p.P187_splice NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA. 299 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Myeloproliferative disorder(115;0.00878) CTTCCCAGGCTGGGGGGATAA 0.423 KIAA1755 85449 broad.mit.edu 37 20 36841555 36841556 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:36841554_36841555T>TG uc002xhy.1 - 13 3764_3765 c.3492_3493A>CA c.(3490-3495)cccaggfs p.P1164fs KIAA1755_uc002xhv.1_Frame_Shift_Ins_p.P228fs|KIAA1755_uc002xhw.1_Frame_Shift_Ins_p.P219fs|KIAA1755_uc002xhx.1_Frame_Shift_Ins_p.P442fs NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN Homo sapiens KIAA1755 (KIAA1755), mRNA. 1164 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TGGCTCTGCCTGGGGGGCTGCT 0.644 ZNF334 55713 broad.mit.edu 37 20 45130769 45130769 + Frame_Shift_Del DEL T T - rs141823361 byFrequency TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:45130768_45130768GT>G uc002xsa.3 - 3 1741 c.1279_1279AC>C c.(1279-1281)cccfs p.P427fs ZNF334_uc002xsb.3_Frame_Shift_Del_p.P366fs|ZNF334_uc002xsd.3_Frame_Shift_Del_p.P366fs|ZNF334_uc002xsc.3_Frame_Shift_Del_p.P404fs|ZNF334_uc010ghl.3_Frame_Shift_Del_p.P403fs Q9HCZ1 ZN334_HUMAN Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA. 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CATTCATAGGGTTTTTCCCCT 0.438 SALL4 57167 broad.mit.edu 37 20 50400983 50400983 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr20:50400982_50400982AC>A uc002xwh.4 - 3 3085 c.2984_2984GT>T c.(2983-2985)gttfs p.V995fs SALL4_uc010gii.3_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Del_p.V218fs NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 995 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGGGTAGGAACCCCCCCACT 0.562 CCT8L2 150160 broad.mit.edu 37 22 17071787 17071788 + Frame_Shift_Ins INS - - T TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:17071786_17071787A>AT uc002zlp.1 - 0 1914_1915 c.1654_1655T>AT c.(1654-1656)atcfs p.I552fs NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA. 552 cellular protein metabolic process cytoplasm ATP binding|anion channel activity|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 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) CAATCCAAGGATTTTTTTTGTT 0.411 CECR1 51816 broad.mit.edu 37 22 17662814 17662815 + Frame_Shift_Ins INS - - A TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:17662813_17662814C>CA uc002zmk.1 - 7 1550_1551 c.1338_1339G>TG c.(1336-1341)tttggtfs p.F446fs CECR1_uc010gqu.1_Frame_Shift_Ins_p.F446fs|CECR1_uc011agi.1_Frame_Shift_Ins_p.F404fs|CECR1_uc002zmj.1_Frame_Shift_Ins_p.F205fs NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA. 446 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process Golgi apparatus|extracellular space adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CCTTTGGCACCAAACATAGCTG 0.530 HIC2 23119 broad.mit.edu 37 22 21800429 21800429 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:21800428_21800428AG>A uc002zur.4 + 2 1474 c.1244_1244AG>A c.(1243-1245)gagfs p.E415fs HIC2_uc002zus.4_Frame_Shift_Del_p.E415fs NM_015094 NP_055909 Q96JB3 HIC2_HUMAN Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA. 415 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) AGCGGGAGCGAGGGGGGCAGC 0.657 SEZ6L 23544 broad.mit.edu 37 22 26688972 26688972 + Frame_Shift_Del DEL C C - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:26688971_26688971GC>G uc003acb.3 + 1 890 c.694_694GC>G c.(694-696)gccfs p.A232fs SEZ6L_uc003acd.3_Frame_Shift_Del_p.A232fs|SEZ6L_uc011akd.2_Frame_Shift_Del_p.A232fs|SEZ6L_uc003ace.3_Frame_Shift_Del_p.A232fs|SEZ6L_uc011akc.2_Frame_Shift_Del_p.A232fs|SEZ6L_uc003acc.3_Frame_Shift_Del_p.A232fs|SEZ6L_uc003acf.1_Frame_Shift_Del_p.A5fs|SEZ6L_uc010gvc.1_Frame_Shift_Del_p.A5fs NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 232 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 GGCCCAGGAGGCCCCCCAGGA 0.642 RNF185 91445 broad.mit.edu 37 22 31583132 31583133 + Frame_Shift_Ins INS - - G TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:31583131_31583132A>AG uc003akb.3 + 1 251_252 c.51_52A>AG c.(49-54)gcagggfs p.A17fs RNF185_uc010gwh.3_Non-coding_Transcript|RNF185_uc011alm.2_5'UTR|RNF185_uc003akc.3_5'UTR|RNF185_uc003ake.3_Frame_Shift_Ins_p.A17fs NM_152267 NP_689480 Q96GF1 RN185_HUMAN Homo sapiens ring finger protein 185 (RNF185), transcript variant 1, mRNA. 17 integral to membrane zinc ion binding NS(1)|large_intestine(1)|lung(3)|skin(1) 6 ACTCCAGTGCAGGGGGGCCCAG 0.604 XRCC6 2547 broad.mit.edu 37 22 42024155 42024155 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:42024154_42024154AT>A uc003bao.1 + 2 185 c.115_115AT>A c.(115-117)attfs p.I39fs XRCC6_uc003bap.1_Frame_Shift_Del_p.I39fs|XRCC6_uc011apc.1_Intron|XRCC6_uc003bar.2_Frame_Shift_Del_p.I39fs NM_001469 NP_001460 P12956 XRCC6_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA. 39 Ser-rich (potentially targets for phosphorylation). DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 31 AGATAGTTTGATTTTTTTGGT 0.333 Non-homologous end-joining RRP7A 27341 broad.mit.edu 37 22 42912035 42912035 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:42912034_42912034GA>G uc003bcp.3 - 0 888 c.394_394TC>C c.(394-396)catfs p.H132fs RRP7A_uc003bcq.3_Frame_Shift_Del_p.H109fs NM_015703 NP_056518 Q9Y3A4 RRP7A_HUMAN Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA. 109 RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 10 GGCTTGGGATGAAAAAACTTC 0.627 SBF1 6305 broad.mit.edu 37 22 50898756 50898756 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chr22:50898755_50898755TG>T uc003blh.3 - 24 3424 c.3229_3229CA>A c.(3229-3231)agcfs p.S1077fs SBF1_uc011arx.2_Frame_Shift_Del_p.S741fs NM_002972 NP_002963 O95248 MTMR5_HUMAN Homo sapiens SET binding factor 1 (SBF1), mRNA. 1077 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 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) TGCTCCCAGCTGGGGGGGTTG 0.647 PRKX 5613 broad.mit.edu 37 X 3544540 3544540 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:3544539_3544539CA>C uc010nde.3 - 4 1117 c.736_736TG>G c.(736-738)gatfs p.D246fs NM_005044 NP_005035 P51817 PRKX_HUMAN Homo sapiens protein kinase, X-linked (PRKX), mRNA. 246 Protein kinase. ATP binding|cAMP-dependent protein kinase activity kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2) 12 all_lung(23;0.000396)|Lung NSC(23;0.00123) GGGTTGTCATCAAAAAACGGA 0.368 HUWE1 10075 broad.mit.edu 37 X 53643948 53643950 + In_Frame_Del DEL CTC CTC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:53643947_53643949TCTC>T uc004dsp.3 - 20 2341_2343 c.1939_1941GAGA>A c.(1939-1941)aga>A p.R647del NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 647 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 NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GATCAGAACTTCTCCTCCTCCGC 0.414 HNRNPH2 3188 broad.mit.edu 37 X 100668112 100668112 + Frame_Shift_Del DEL T T - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:100668111_100668111CT>C uc022cai.1 + 0 1135 c.1135_1135CT>C c.(1135-1137)cttfs p.L379fs RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Frame_Shift_Del_p.L379fs|HNRNPH2_uc004ehn.3_Frame_Shift_Del_p.L379fs NM_019597 NP_062543 P55795 HNRH2_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA. 379 2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats. nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm RNA binding|nucleotide binding|protein binding breast(3)|large_intestine(2)|lung(6)|skin(1) 12 CTATGTAGAACTTTTTTTGAA 0.458 ZMAT1 84460 broad.mit.edu 37 X 101139736 101139747 + In_Frame_Del DEL TTGGTAAGAGTC TTGGTAAGAGTC - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:101139735_101139746TTTGGTAAGAGTC>T uc011mrl.2 - 6 1003_1014 c.653_664GACTCTTACCAAA>A c.(652-666)gactcttaccaaaat>gAat p.218_222DSYQN>E ZMAT1_uc004eim.3_In_Frame_Del_p.47_51DSYQN>E|ZMAT1_uc004ein.3_In_Frame_Del_p.47_51DSYQN>E|ZMAT1_uc011mrm.2_In_Frame_Del_p.47_51DSYQN>E NM_001011657 NP_001011657 A7MD47 A7MD47_HUMAN Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA. 47 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 GCACACTCATTTTGGTAAGAGTCTTGTGTCTT 0.344 GPRASP1 9737 broad.mit.edu 37 X 101912652 101912653 + Frame_Shift_Del DEL CA CA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:101912651_101912652TCA>T uc010nod.3 + 2 4452_4453 c.3810_3811TCA>T c.(3808-3813)tatcacfs p.Y1270fs ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Frame_Shift_Del_p.Y1270fs|GPRASP1_uc004ejj.4_Frame_Shift_Del_p.Y1270fs|GPRASP1_uc004eji.4_Frame_Shift_Del_p.Y1270fs|GPRASP1_uc022cbd.1_Frame_Shift_Del_p.Y1270fs NM_001099411 NP_055525 Q5JY77 GASP1_HUMAN Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA. 1270 OPRD1-binding. cytoplasm protein binding p.Y1270*(2) NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CTACTGACTATCACACACTGGT 0.406 COL4A5 1287 broad.mit.edu 37 X 107827718 107827718 + Frame_Shift_Del DEL A A - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:107827717_107827717CA>C uc022ccg.1 + 17 1196 c.994_994CA>C c.(994-996)caafs p.Q332fs COL4A5_uc004enz.1_Frame_Shift_Del_p.Q332fs|COL4A5_uc004eob.1_5'UTR NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 332 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.Q332H(1)|p.G331V(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TGAACAGGGCCAAAAAGGTGA 0.333 Alport syndrome with Diffuse Leiomyomatosis MAP7D3 79649 broad.mit.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:135314193_135314193TG>T uc004ezt.3 - 7 1144 c.923_923CA>A c.(922-924)cagfs p.Q308fs MAP7D3_uc004ezs.3_Frame_Shift_Del_p.Q273fs|MAP7D3_uc011mwc.2_Frame_Shift_Del_p.Q290fs|MAP7D3_uc010nsa.2_Frame_Shift_Del_p.Q266fs NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA. 308 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) CACATTCACCTGGGGGGGTGC 0.537 AFF2 2334 broad.mit.edu 37 X 148037653 148037655 + In_Frame_Del DEL AGA AGA - TCGA-HU-8602-01A-11D-2394-08 TCGA-HU-8602-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx d60f2fc4-7e4c-4ebe-9915-b7f1409fb497 e6844a18-1303-4185-83d0-080c428d27f4 g.chrX:148037652_148037654GAGA>G uc004fcp.3 + 10 2556_2558 c.2077_2079GAGA>G c.(2077-2079)gag>G p.E693del AFF2_uc004fcq.3_In_Frame_Del_p.E683del|AFF2_uc004fcr.3_In_Frame_Del_p.E654del|AFF2_uc011mxb.2_In_Frame_Del_p.E658del|AFF2_uc004fcs.3_In_Frame_Del_p.E660del|AFF2_uc011mxc.2_In_Frame_Del_p.E334del NM_002025 NP_002016 P51816 AFF2_HUMAN Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA. 693 RNA splicing|brain development|mRNA processing|regulation of RNA splicing nuclear speck G-quadruplex RNA binding|protein binding p.E693*(3)|p.E334*(1) breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TTTGGCTCCCGAGAAGAAGAAGT 0.498