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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample SAMD11 148398 broad.mit.edu 37 1 879384 879384 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:879384G>A uc001abw.1 + 14 1977 c.1897G>A c.(1897-1899)GGC>AGC p.G633S SAMD11_uc001abx.1_Missense_Mutation_p.G496S NM_152486 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 633 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) GCGAGAACTCGGCACAGGAGA 0.682 NaN 0 0 0 0.01441 0 53 45 TPRG1L 127262 broad.mit.edu 37 1 3544178 3544178 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:3544178G>A uc001akm.2 + 4 666 c.585G>A c.(583-585)CCG>CCA p.P195P TPRG1L_uc009vlj.2_Silent_p.P136P NM_182752 NP_877429 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1-like 195 cell junction|synaptic vesicle 0 all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172) all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201) CAGAACACCCGATGGCTGGCG 0.532 NaN 0 0 0 0.007413 0 17 161 CHD5 26038 broad.mit.edu 37 1 6196893 6196893 + Silent SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:6196893G>C uc001amb.1 - 16 2569 c.2469C>G c.(2467-2469)CTC>CTG p.L823L CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA|CHD5_uc009vlx.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 823 Helicase ATP-binding. 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) CATAGGAGGTGAGCAGCACGT 0.567 NaN 0 0 0 0.004289 0 28 41 PRDM2 7799 broad.mit.edu 37 1 14075874 14075874 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:14075874G>A uc001avi.2 + 6 1259 c.403G>A c.(403-405)GAG>AAG p.E135K PRDM2_uc001avg.2_Missense_Mutation_p.E135K|PRDM2_uc001avh.2_Missense_Mutation_p.E135K|PRDM2_uc001avj.2_RNA|PRDM2_uc009vod.1_5'UTR|PRDM2_uc001avk.2_5'UTR|PRDM2_uc009voe.2_RNA|PRDM2_uc009vof.2_RNA NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 135 SET. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GCCGGGCGAGGAGCTCCTGGT 0.537 NaN 0 0 0 0.000602 0 5 37 UBR4 23352 broad.mit.edu 37 1 19528304 19528304 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:19528304G>A uc001bbi.2 - 2 186 c.182C>T c.(181-183)TCA>TTA p.S61L NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 61 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) CAGGATTTCTGATTCACTGTA 0.219 NaN 0 0 0 0.001984 0 6 48 PQLC2 54896 broad.mit.edu 37 1 19653762 19653762 + Silent SNP C C T rs139194294 byFrequency TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:19653762C>T uc001bby.2 + 8 1012 c.660C>T c.(658-660)TTC>TTT p.F220F PQLC2_uc001bbz.2_Silent_p.F155F|PQLC2_uc001bca.2_Silent_p.F220F|PQLC2_uc001bcb.2_Silent_p.F109F|PQLC2_uc001bcc.2_Silent_p.F109F NM_017765 NP_060235 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 isoform 1 220 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) ACTCTCTGTTCGCGCTGGTGA 0.552 NaN 0 0 0 0.01441 0 51 69 HNRNPR 10236 broad.mit.edu 37 1 23648144 23648144 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:23648144C>T uc001bgr.3 - 7 847 c.688G>A c.(688-690)GAA>AAA p.E230K HNRNPR_uc001bgp.3_Missense_Mutation_p.E230K|HNRNPR_uc009vqk.2_Missense_Mutation_p.E129K|HNRNPR_uc001bgs.3_Missense_Mutation_p.E129K|HNRNPR_uc010odw.1_Missense_Mutation_p.E192K|HNRNPR_uc010odx.1_Missense_Mutation_p.E70K|HNRNPR_uc009vql.2_Missense_Mutation_p.E91K NM_005826 NP_005817 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 230 RRM 1. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) GGGCGAATTTCATAGCTGTCA 0.383 NaN 0 0 0 0.01441 0 78 92 ASAP3 55616 broad.mit.edu 37 1 23767922 23767922 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:23767922G>A uc001bha.2 - 9 916 c.792C>T c.(790-792)CTC>CTT p.L264L ASAP3_uc010odz.1_Silent_p.L133L|ASAP3_uc010oea.1_Silent_p.L255L|ASAP3_uc001bhb.2_5'Flank NM_017707 NP_060177 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 264 Potential. regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1)|skin(1) 3 GGGAGTCCCGGAGCTGGGTCA 0.597 NaN 0 0 0 0.003163 0 11 22 CSMD2 114784 broad.mit.edu 37 1 34042907 34042907 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:34042907G>A uc001bxn.1 - 50 7600 c.7571C>T c.(7570-7572)CCT>CTT p.P2524L CSMD2_uc001bxm.1_Missense_Mutation_p.P2522L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2524 Sushi 14.|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) TTGACAGAGAGGGATGGCTTC 0.577 NaN 0 0 0 0.01441 0 47 61 EIF2C3 192669 broad.mit.edu 37 1 36520571 36520571 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:36520571C>T uc001bzp.2 + 18 2555 c.2299C>T c.(2299-2301)CAT>TAT p.H767Y EIF2C3_uc001bzq.2_Missense_Mutation_p.H533Y NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 767 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTCACACTATCATGTTTTATG 0.348 NaN 0 0 0 0.01441 0 46 84 EIF2C3 192669 broad.mit.edu 37 1 36520721 36520721 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:36520721C>T uc001bzp.2 + 18 2705 c.2449C>T c.(2449-2451)CAT>TAT p.H817Y EIF2C3_uc001bzq.2_Missense_Mutation_p.H583Y NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 817 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGCCAGATATCATCTTGTGGA 0.423 NaN 0 0 0 0.000602 0 3 11 MANEAL 149175 broad.mit.edu 37 1 38265848 38265848 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:38265848C>T uc001cby.2 + 4 1428 c.1347C>T c.(1345-1347)ATC>ATT p.I449I MANEAL_uc001cbx.2_3'UTR|MANEAL_uc001cbz.2_Silent_p.I227I NM_001113482 NP_001106954 Q5VSG8 MANEL_HUMAN mannosidase, endo-alpha-like isoform 3 449 Lumenal (Potential). Golgi membrane|integral to membrane hydrolase activity 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) AGCACTTCATCAAAGAGAAGG 0.582 NaN 0 0 0 0.007835 0 35 59 ERMAP 114625 broad.mit.edu 37 1 43296669 43296669 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:43296669G>A uc001cic.1 + 4 586 c.316G>A c.(316-318)GAG>AAG p.E106K ERMAP_uc010ojw.1_Missense_Mutation_p.E167K|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Missense_Mutation_p.E106K|ERMAP_uc001cif.1_Missense_Mutation_p.E16K NM_001017922 NP_001017922 Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein 106 Ig-like V-type.|Extracellular (Potential). DAQEGSVTLQI -> CPRGKCHSADP (in Sc-3 allele). integral to membrane|plasma membrane ovary(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGATGCCCAAGAGGGAAGTGT 0.532 NaN 0 0 0 0.001984 0 5 67 NASP 4678 broad.mit.edu 37 1 46080036 46080036 + Missense_Mutation SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:46080036C>A uc001coi.1 + 9 1766 c.1664C>A c.(1663-1665)TCT>TAT p.S555Y NASP_uc001coh.1_Missense_Mutation_p.S557Y|NASP_uc001coj.1_Missense_Mutation_p.S216Y|NASP_uc010olr.1_Missense_Mutation_p.S491Y|NASP_uc001col.1_Missense_Mutation_p.S63Y NM_002482 NP_002473 P49321 NASP_HUMAN nuclear autoantigenic sperm protein isoform 2 555 TPR 2.|Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding ovary(1) 1 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) AGTGTTGAATCTGGTAATGCA 0.378 NaN 1 0 9.65021e-13 0.010818 1.02374e-12 25 42 PRKACB 5567 broad.mit.edu 37 1 84668421 84668421 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:84668421C>T uc001djj.2 + 8 962 c.698C>T c.(697-699)GCA>GTA p.A233V PRKACB_uc001djl.2_Missense_Mutation_p.A280V|PRKACB_uc010ort.1_Missense_Mutation_p.A240V|PRKACB_uc001djn.2_Missense_Mutation_p.A237V|PRKACB_uc010oru.1_Missense_Mutation_p.A221V|PRKACB_uc001djp.2_Missense_Mutation_p.A239V|PRKACB_uc001djq.2_Missense_Mutation_p.A203V|PRKACB_uc010orv.1_Missense_Mutation_p.A220V|PRKACB_uc001dji.2_Missense_Mutation_p.A233V|PRKACB_uc001djk.2_Missense_Mutation_p.A280V|PRKACB_uc009wcf.1_Missense_Mutation_p.A239V NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 233 Protein kinase. A -> V (in Ref. 3; CAI56774). activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding lung(2)|ovary(1) 3 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) TATGAAATGGCAGCTGGCTAT 0.373 NaN 0 0 0 0.007413 0 15 193 CLCA2 9635 broad.mit.edu 37 1 86921014 86921014 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:86921014C>T uc001dlr.3 + 14 2798 c.2636C>T c.(2635-2637)TCT>TTT p.S879F NM_006536 NP_006527 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 precursor 879 Extracellular (Potential). cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity ovary(1)|breast(1)|skin(1) 3 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TCTGCTGTATCTAACATTGCC 0.423 NaN 0 0 0 0.007291 0 21 275 PTBP2 58155 broad.mit.edu 37 1 97278831 97278831 + Splice_Site SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:97278831G>C uc001drq.2 + 14 1713 c.1467_splice c.e14-1 p.Q489_splice PTBP2_uc001drn.2_Missense_Mutation_p.R495T|PTBP2_uc001dro.2_Missense_Mutation_p.R490T|PTBP2_uc010otz.1_Missense_Mutation_p.R506T|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Missense_Mutation_p.R438T|PTBP2_uc001drr.2_Splice_Site_p.Q494_splice|PTBP2_uc010oua.1_Missense_Mutation_p.R498T|PTBP2_uc001dru.2_Splice_Site|PTBP2_uc001drs.1_Missense_Mutation_p.R109T|PTBP2_uc001drt.2_Splice_Site_p.Q108_splice NM_021190 NP_067013 Q9UKA9 PTBP2_HUMAN polypyrimidine tract binding protein 2 nucleotide binding 0 all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171) all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202) TGTTTCAGAAGAGATCACAAA 0.323 NaN 0 0 0 0.009096 0 3 53 STXBP3 6814 broad.mit.edu 37 1 109339242 109339242 + Missense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:109339242G>T uc001dvy.2 + 15 1325 c.1250G>T c.(1249-1251)GGA>GTA p.G417V STXBP3_uc001dvz.2_RNA NM_007269 NP_009200 O00186 STXB3_HUMAN syntaxin binding protein 3 417 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding ovary(3)|central_nervous_system(1) 4 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) CCTATTTAAGGAACTACGGAA 0.338 NaN 1 0 1.68575e-08 0.007291 1.75581e-08 26 27 AMIGO1 57463 broad.mit.edu 37 1 110050083 110050083 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:110050083C>T uc001dxx.3 - 2 1834 c.1452G>A c.(1450-1452)TCG>TCA p.S484S NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN AMIGO protein precursor 484 Cytoplasmic (Potential). axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane ovary(1)|breast(1) 2 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) CAGAGAAGACCGAGCTGACTG 0.582 NaN 0 0 0 0.008871 0 16 214 DDX20 11218 broad.mit.edu 37 1 112298569 112298569 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:112298569C>T uc001ebs.2 + 1 380 c.23C>T c.(22-24)TCG>TTG p.S8L C1orf183_uc001ebp.1_5'Flank|uc001ebr.2_5'Flank|DDX20_uc010owf.1_5'UTR NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 8 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTGAAGCCTCGGGAGCCTTA 0.632 NaN 0 0 0 0.004007 0 13 29 TTF2 8458 broad.mit.edu 37 1 117633952 117633952 + Nonsense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:117633952C>G uc001egy.2 + 16 2611 c.2591C>G c.(2590-2592)TCA>TGA p.S864* NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase 864 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding ovary(1) 1 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) TGAGGCAGGTCAGCTCTGCAA 0.393 NaN 0 0 0 0.013114 0 42 77 NBPF9 400818 broad.mit.edu 37 1 144220816 144220816 + Missense_Mutation SNP A A G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:144220816A>G uc010oxr.1 + 19 2193 c.2189A>G c.(2188-2190)GAG>GGG p.E730G NBPF9_uc010oxn.1_Missense_Mutation_p.E601G|NBPF9_uc010oxo.1_Intron|NBPF9_uc010oxt.1_Missense_Mutation_p.E518G|NBPF9_uc001ekg.1_Missense_Mutation_p.E30G|NBPF9_uc001ekk.1_Missense_Mutation_p.E274G|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.E30G|uc010oxz.1_Missense_Mutation_p.E518G NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 703 NBPF 5. cytoplasm 0 GATGAGAAAGAGCCTGAAGTC 0.483 NaN 0 0 0 0.001984 0 5 278 NBPF10 100132406 broad.mit.edu 37 1 145360624 145360624 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:145360624G>A uc001end.3 + 76 9509 c.9474G>A c.(9472-9474)TCG>TCA p.S3158S NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Silent_p.S456S NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3083 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GATGTTATTCGACTCCTTCAG 0.478 NaN 0 0 0 0.004482 0 8 24 HRNR 388697 broad.mit.edu 37 1 152190860 152190860 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:152190860G>A uc001ezt.1 - 3 3321 c.3245C>T c.(3244-3246)ACA>ATA p.T1082I NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1082 12. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCCTGATGTAGAACCGTG 0.552 NaN 0 0 0 0.01441 0 197 517 LCE1D 353134 broad.mit.edu 37 1 152770489 152770489 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:152770489G>A uc009wnp.2 + 2 262 c.219G>A c.(217-219)CTG>CTA p.L73L NM_178352 NP_848129 Q5T752 LCE1D_HUMAN late cornified envelope 1D 73 Cys-rich. cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm 0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGCTGCCTGAGCCACCACA 0.711 NaN 0 0 0 0.00308 0 8 22 LCE1D 353134 broad.mit.edu 37 1 152770614 152770614 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:152770614G>A uc009wnp.2 + 2 387 c.344G>A c.(343-345)TGA>TAA p.*115* NM_178352 NP_848129 Q5T752 LCE1D_HUMAN late cornified envelope 1D 115 cellular response to calcium ion|keratinization cornified envelope|perinuclear region of cytoplasm 0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GGCTGCTGCTGAAGTGGACCT 0.602 NaN 0 0 0 0.01441 0 39 2 INTS3 65123 broad.mit.edu 37 1 153745426 153745426 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:153745426G>A uc009wom.2 + 30 3141 c.2920G>A c.(2920-2922)GAG>AAG p.E974K INTS3_uc001fct.2_Missense_Mutation_p.E974K|INTS3_uc001fcu.2_Missense_Mutation_p.E666K|INTS3_uc001fcv.2_Missense_Mutation_p.E768K|INTS3_uc010peb.1_Missense_Mutation_p.E834K|INTS3_uc001fcw.2_Missense_Mutation_p.E487K|INTS3_uc010pec.1_Missense_Mutation_p.E487K|INTS3_uc001fcy.2_Missense_Mutation_p.E337K|INTS3_uc001fcx.2_Missense_Mutation_p.E271K NM_023015 NP_075391 Q68E01 INT3_HUMAN integrator complex subunit 3 975 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTCCCTGGCGGAGGAATATGA 0.572 NaN 0 0 0 0.006122 0 17 138 ADAR 103 broad.mit.edu 37 1 154557296 154557296 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:154557296G>C uc001ffh.2 - 15 3867 c.3667C>G c.(3667-3669)CTC>GTC p.L1223V ADAR_uc001ffj.2_Missense_Mutation_p.L1178V|ADAR_uc001ffi.2_Missense_Mutation_p.L1197V|ADAR_uc001ffk.2_Missense_Mutation_p.L928V NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 1223 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) ACTGGGCAGAGATAAAAGTTC 0.483 NaN 0 0 0 0.01441 0 71 190 ADAR 103 broad.mit.edu 37 1 154571024 154571024 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:154571024G>A uc001ffh.2 - 3 1839 c.1639C>T c.(1639-1641)CCC>TCC p.P547S ADAR_uc001ffj.2_Missense_Mutation_p.P547S|ADAR_uc001ffi.2_Missense_Mutation_p.P547S|ADAR_uc001ffk.2_Missense_Mutation_p.P252S NM_001111 NP_001102 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific isoform a 547 DRBM 1. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TCAGCTGGGGGAAACTCTCGG 0.473 NaN 0 0 0 0.00245 0 12 167 KIRREL 55243 broad.mit.edu 37 1 158061194 158061194 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:158061194G>A uc001frn.3 + 11 1723 c.1319G>A c.(1318-1320)CGC>CAC p.R440H KIRREL_uc010pib.1_Missense_Mutation_p.R340H|KIRREL_uc009wsq.2_Missense_Mutation_p.R276H|KIRREL_uc001fro.3_Missense_Mutation_p.R254H NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 440 Ig-like C2-type 5.|Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) ACCCTGGAACGCTATACAGTG 0.567 NaN 0 0 0 0.006999 0 41 120 OR6Y1 391112 broad.mit.edu 37 1 158517192 158517192 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:158517192G>A uc010pil.1 - 1 704 c.704C>T c.(703-705)TCT>TTT p.S235F NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GCCCTGAGCAGAAGGGATCCT 0.522 NaN 0 0 0 0.01441 0 55 95 OR10J1 26476 broad.mit.edu 37 1 159409658 159409658 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:159409658C>T uc010piv.1 + 1 110 c.110C>T c.(109-111)ACC>ATC p.T37I uc001fts.3_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, 37 Helical; Name=1; (Potential). sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0429) CAGCAGATCACCCTTTTTGGC 0.418 NaN 0 0 0 0.01441 0 177 124 IGSF9 57549 broad.mit.edu 37 1 159897219 159897219 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:159897219G>A uc001fur.2 - 21 3654 c.3456C>T c.(3454-3456)TTC>TTT p.F1152F IGSF9_uc001fuq.2_Silent_p.F1136F|CCDC19_uc001ful.2_5'Flank|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc001fuo.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.F298F NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 1152 Cytoplasmic (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GGCGGCGGCGGAAGGCCAGGA 0.632 NaN 0 0 0 0.01441 0 46 106 BLZF1 8548 broad.mit.edu 37 1 169345923 169345923 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:169345923G>C uc001gfx.1 + 3 611 c.174G>C c.(172-174)GAG>GAC p.E58D BLZF1_uc001gfw.2_Missense_Mutation_p.E58D|BLZF1_uc001gfy.2_Missense_Mutation_p.E58D|BLZF1_uc009wvp.1_Missense_Mutation_p.E35D NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 58 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) TTCCATCAGAGAGCCCAGGAG 0.413 NaN 0 0 0 0.014323 0 20 83 BLZF1 8548 broad.mit.edu 37 1 169346158 169346158 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:169346158G>C uc001gfx.1 + 3 846 c.409G>C c.(409-411)GAA>CAA p.E137Q BLZF1_uc001gfw.2_Missense_Mutation_p.E137Q|BLZF1_uc001gfy.2_Missense_Mutation_p.E137Q|BLZF1_uc009wvp.1_Missense_Mutation_p.E114Q NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 137 Potential. cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) CAAGAATTCTGAAAGAAGGTT 0.383 NaN 0 0 0 0.010818 0 25 49 SCYL3 57147 broad.mit.edu 37 1 169825055 169825055 + Silent SNP C C T rs75739679 byFrequency TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:169825055C>T uc001ggs.2 - 12 1554 c.1356G>A c.(1354-1356)TCG>TCA p.S452S SCYL3_uc010plw.1_Intron|SCYL3_uc001ggt.2_Intron|SCYL3_uc001ggu.2_Intron NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN SCY1-like 3 isoform 2 452 cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity ovary(1)|skin(1) 2 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCAAGATTGGCGAGATCTGAC 0.428 NaN 0 0 0 0.000602 0 4 133 TPR 7175 broad.mit.edu 37 1 186326652 186326652 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:186326652G>A uc001grv.2 - 14 1898 c.1601C>T c.(1600-1602)TCA>TTA p.S534L TPR_uc010pop.1_Missense_Mutation_p.S610L NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 534 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TAGATGCTGTGATATTACCTC 0.403 NaN T NTRK1 papillary thyroid 0 0 0 0.013114 0 44 83 CFH 3075 broad.mit.edu 37 1 196643008 196643008 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:196643008G>C uc001gtj.3 + 3 506 c.266G>C c.(265-267)GGA>GCA p.G89A CFH_uc001gti.3_Missense_Mutation_p.G89A|CFH_uc009wyw.2_Missense_Mutation_p.G89A|CFH_uc009wyx.2_Missense_Mutation_p.G89A NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 89 Sushi 2. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 GGACATCCTGGAGATACTCCT 0.363 NaN 0 0 0 0.004007 0 13 199 LAD1 3898 broad.mit.edu 37 1 201351425 201351425 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:201351425C>G uc001gwm.2 - 9 1738 c.1503G>C c.(1501-1503)GAG>GAC p.E501D NM_005558 NP_005549 O00515 LAD1_HUMAN ladinin 1 501 basement membrane structural molecule activity 0 ACTGAGTCCTCTCGGTTGCAG 0.607 NaN 0 0 0 0.01441 0 107 59 ATP2B4 493 broad.mit.edu 37 1 203676348 203676348 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:203676348G>A uc001gzw.2 + 9 2195 c.1311G>A c.(1309-1311)GTG>GTA p.V437V ATP2B4_uc001gzv.2_Silent_p.V437V|ATP2B4_uc009xaq.2_Silent_p.V437V NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 437 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCTACTCTGTGAAGGTGAGAC 0.468 NaN 0 0 0 0.001984 0 7 115 PIGR 5284 broad.mit.edu 37 1 207112588 207112588 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:207112588C>T uc001hez.2 - 3 448 c.264G>A c.(262-264)CCG>CCA p.P88P PIGR_uc009xbz.2_Silent_p.P88P NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 88 Ig-like V-type 1.|Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 TGCCGTTCTCCGGGAAGTTGG 0.592 NaN 0 0 0 0.009096 0 4 91 NSL1 25936 broad.mit.edu 37 1 212911828 212911828 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:212911828C>T uc001hjn.2 - 6 802 c.768G>A c.(766-768)CTG>CTA p.L256L NSL1_uc001hjm.2_3'UTR|NSL1_uc010pti.1_Silent_p.L215L NM_015471 NP_056286 Q96IY1 NSL1_HUMAN NSL1, MIND kinetochore complex component isoform 256 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102) GCTTTCTTTTCAGTACCATGT 0.398 NaN 0 0 0 0.005443 0 20 176 EPRS 2058 broad.mit.edu 37 1 220174523 220174523 + Nonsense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:220174523G>T uc001hly.1 - 17 2408 c.2138C>A c.(2137-2139)TCA>TAA p.S713* EPRS_uc010puf.1_Nonsense_Mutation_p.S464*|EPRS_uc001hlz.1_Nonsense_Mutation_p.S720*|EPRS_uc009xdt.1_Nonsense_Mutation_p.S301* NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 713 Glutamyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) CTTTGACCCTGATGTTGGCAT 0.373 NaN 1 0 2.81731e-10 0.010818 2.95744e-10 29 65 NSUN6 221078 broad.mit.edu 37 10 18840786 18840786 + Nonsense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr10:18840786G>T uc010qcp.1 - 9 1455 c.1037C>A c.(1036-1038)TCA>TAA p.S346* NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN NOL1/NOP2/Sun domain family, member 6 346 methyltransferase activity|RNA binding ovary(2) 2 TGGCTGATATGATGCCACTTC 0.423 NaN 1 0 0.00198382 0.001984 0.00201395 5 155 ARMC4 55130 broad.mit.edu 37 10 28276464 28276464 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr10:28276464G>C uc009xky.2 - 3 331 c.233C>G c.(232-234)ACA>AGA p.T78R ARMC4_uc001itz.2_Missense_Mutation_p.T78R NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 78 binding ovary(4)|skin(2) 6 TGATTTGACTGTTGTTTCACt 0.318 NaN 0 0 0 0.006214 0 8 22 VCL 7414 broad.mit.edu 37 10 75849105 75849105 + Nonsense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr10:75849105C>T uc001jwd.2 + 9 1268 c.1174C>T c.(1174-1176)CAG>TAG p.Q392* VCL_uc009xrr.2_Nonsense_Mutation_p.Q141*|VCL_uc010qky.1_Nonsense_Mutation_p.Q299*|VCL_uc001jwe.2_Nonsense_Mutation_p.Q392*|VCL_uc010qkz.1_Intron NM_014000 NP_054706 P18206 VINC_HUMAN vinculin isoform meta-VCL 392 N-terminal globular head.|3 X 112 AA tandem repeats.|2. 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) CGATGCTGCTCAGGTAGTCAC 0.423 NaN 0 0 0 0.01441 0 35 8 PKD2L1 9033 broad.mit.edu 37 10 102056962 102056962 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr10:102056962C>T uc001kqx.1 - 6 1343 c.960G>A c.(958-960)CTG>CTA p.L320L PKD2L1_uc009xwm.1_Silent_p.L273L NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 320 Helical; (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) ACTCCACCACCAGCCTATAGG 0.582 NaN 0 0 0 0.000602 0 4 52 PDCD11 22984 broad.mit.edu 37 10 105191938 105191938 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr10:105191938G>A uc001kwy.1 + 22 3508 c.3421G>A c.(3421-3423)GAG>AAG p.E1141K NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1141 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TAGCCCCATGGAGAAGATTAA 0.438 NaN 0 0 0 0.00278 0 17 69 SORCS1 114815 broad.mit.edu 37 10 108371749 108371749 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr10:108371749G>C uc001kym.2 - 22 2961 c.2953C>G c.(2953-2955)CCA>GCA p.P985A SORCS1_uc001kyl.2_Missense_Mutation_p.P985A|SORCS1_uc009xxs.2_Missense_Mutation_p.P985A|SORCS1_uc001kyn.1_Missense_Mutation_p.P985A|SORCS1_uc001kyo.2_Missense_Mutation_p.P985A NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 985 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) TCCAGGTTTGGAGAAAAGGAC 0.458 NaN 0 0 0 0.004878 0 33 7 MKI67 4288 broad.mit.edu 37 10 129904104 129904104 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr10:129904104C>G uc001lke.2 - 13 6195 c.6000G>C c.(5998-6000)AAG>AAC p.K2000N MKI67_uc001lkf.2_Missense_Mutation_p.K1640N|MKI67_uc009yav.1_Missense_Mutation_p.K1575N|MKI67_uc009yaw.1_Missense_Mutation_p.K1150N NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2000 16 X 122 AA approximate repeats.|9. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CCAAGGATATCTTGAGTCGTT 0.493 NaN 0 0 0 0.01441 0 168 41 KRTAP5-4 387267 broad.mit.edu 37 11 1642643 1642643 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:1642643C>G uc009ycy.1 - 4 906 c.819G>C c.(817-819)AAG>AAC p.K273N NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 287 keratin filament 0 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGCCTCAGATCTTACACTGGC 0.547 NaN 0 0 0 0.006214 0 9 159 TRPM5 29850 broad.mit.edu 37 11 2427906 2427906 + Missense_Mutation SNP C C T rs148532424 TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:2427906C>T uc001lwm.3 - 21 3245 c.3236G>A c.(3235-3237)CGG>CAG p.R1079Q TRPM5_uc010qxl.1_Missense_Mutation_p.R1079Q|TRPM5_uc009ydn.2_Missense_Mutation_p.R1081Q NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 1079 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GGCGGTTTTCCGCAGCACCTC 0.617 NaN 0 0 0 0.01441 0 74 96 OR51F1 256892 broad.mit.edu 37 11 4790271 4790271 + Missense_Mutation SNP T T C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:4790271T>C uc010qyl.1 - 1 877 c.877A>G c.(877-879)ATC>GTC p.I293V NM_001004752 NP_001004752 A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, 293 integral to membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) ACACTGTCGATGATGGGGTTG 0.448 NaN 0 0 0 0.01441 0 56 69 OR2D3 120775 broad.mit.edu 37 11 6942471 6942471 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:6942471G>C uc010rav.1 + 1 239 c.239G>C c.(238-240)AGA>ACA p.R80T NM_001004684 NP_001004684 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, 80 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTTTTTCTTAGAAATCTCTCC 0.408 NaN 0 0 0 0.01441 0 55 58 MRGPRX3 117195 broad.mit.edu 37 11 18159013 18159013 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:18159013C>G uc001mnu.2 + 3 625 c.264C>G c.(262-264)ATC>ATG p.I88M NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 88 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 TACGCCTCATCAATATCCGCC 0.547 NaN 0 0 0 0.00874 0 42 50 ABTB2 25841 broad.mit.edu 37 11 34181459 34181459 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:34181459G>C uc001mvl.1 - 13 2272 c.2042C>G c.(2041-2043)TCT>TGT p.S681C NM_145804 NP_665803 Q8N961 ABTB2_HUMAN ankyrin repeat and BTB (POZ) domain containing 681 DNA binding central_nervous_system(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691) CTACCTGTTAGAAGCTGTCAC 0.488 NaN 0 0 0 0.009535 0 27 22 SERPING1 710 broad.mit.edu 37 11 57367761 57367761 + Missense_Mutation SNP A A G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:57367761A>G uc001nkp.1 + 3 652 c.461A>G c.(460-462)TAC>TGC p.Y154C SERPING1_uc001nkq.1_Missense_Mutation_p.Y154C|SERPING1_uc010rju.1_Missense_Mutation_p.Y102C|SERPING1_uc010rjv.1_Missense_Mutation_p.Y159C|SERPING1_uc001nkr.1_Missense_Mutation_p.Y154C|SERPING1_uc009ymi.1_Missense_Mutation_p.Y154C|SERPING1_uc009ymj.1_Missense_Mutation_p.Y154C|SERPING1_uc001nks.1_Intron NM_000062 NP_000053 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G, member 1 154 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1) 1 CTGAAGCTCTACCACGCCTTC 0.542 NaN Hereditary_Angioedema 0 0 0 0.00245 0 10 169 DAGLA 747 broad.mit.edu 37 11 61507077 61507077 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:61507077C>T uc001nsa.2 + 17 1908 c.1797C>T c.(1795-1797)CTC>CTT p.L599L NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 599 Cytoplasmic (Potential). cell death|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 READ - Rectum adenocarcinoma(4;0.219) GCACTCCACTCTACCCGCCCG 0.657 NaN 0 0 0 0.01441 0 48 63 KRTAP5-7 440050 broad.mit.edu 37 11 71238815 71238815 + Missense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:71238815G>T uc001oqq.1 + 1 503 c.469G>T c.(469-471)GTC>TTC p.V157F NM_001012503 NP_001012521 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 157 7 X 4 AA repeats of C-C-X-P.|7. keratin filament 0 TAGCTGCTGTGTCCCCGTGTG 0.323 NaN 1 0 2.45186e-53 0.01441 2.679e-53 136 202 FAT3 120114 broad.mit.edu 37 11 92087838 92087838 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:92087838G>A uc001pdj.3 + 1 2577 c.2560G>A c.(2560-2562)GAA>AAA p.E854K NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 854 Cadherin 8.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CATTCAAGTGGAAGCCAGAGA 0.393 NaN TCGA Ovarian(4;0.039) 0 0 0 0.004656 0 22 27 KIAA1377 57562 broad.mit.edu 37 11 101868342 101868342 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:101868342G>C uc001pgm.2 + 11 3592 c.3322G>C c.(3322-3324)GAT>CAT p.D1108H KIAA1377_uc001pgn.2_Missense_Mutation_p.D1064H|KIAA1377_uc010run.1_Missense_Mutation_p.D909H NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 1108 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GAAGAGAGAAGATAGAACCAG 0.428 NaN 0 0 0 0.001168 0 5 88 DLAT 1737 broad.mit.edu 37 11 111896985 111896985 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:111896985G>A uc001pmo.2 + 2 1002 c.343G>A c.(343-345)GAG>AAG p.E115K DLAT_uc009yyk.1_Missense_Mutation_p.E115K|DLAT_uc010rwr.1_Missense_Mutation_p.E115K NM_001931 NP_001922 P10515 ODP2_HUMAN dihydrolipoamide S-acetyltransferase precursor 115 Lipoyl-binding 1. glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial pyruvate dehydrogenase complex dihydrolipoyllysine-residue acetyltransferase activity|protein binding 0 all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663) Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557) NADH(DB00157) GGAAAAAAAAGAGGGGGACAA 0.303 NaN 0 0 0 0.006214 0 5 19 USP28 57646 broad.mit.edu 37 11 113672370 113672370 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:113672370C>T uc001poh.2 - 24 2926 c.2893G>A c.(2893-2895)GAA>AAA p.E965K USP28_uc001pog.2_Missense_Mutation_p.E641K|USP28_uc010rwy.1_Missense_Mutation_p.E808K|USP28_uc001poi.2_Missense_Mutation_p.E288K NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 965 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TCATTTGTTTCAAAAAGAGAA 0.363 NaN 0 0 0 0.005443 0 20 34 PHLDB1 23187 broad.mit.edu 37 11 118485345 118485345 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:118485345C>T uc001ptr.1 + 4 485 c.132C>T c.(130-132)AGC>AGT p.S44S PHLDB1_uc010ryh.1_Silent_p.S44S|PHLDB1_uc001pts.2_Silent_p.S44S|PHLDB1_uc001ptt.2_Silent_p.S44S|PHLDB1_uc001ptu.1_RNA NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, 44 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) ACCTGGTGAGCCTGGGCAGTG 0.572 NaN 0 0 0 0.00499 0 17 23 SORL1 6653 broad.mit.edu 37 11 121485651 121485651 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:121485651C>G uc001pxx.2 + 41 5571 c.5491C>G c.(5491-5493)CTG>GTG p.L1831V SORL1_uc010rzp.1_Missense_Mutation_p.L677V|SORL1_uc010rzq.1_Missense_Mutation_p.L446V NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 1831 Extracellular (Potential).|Fibronectin type-III 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) GGATAGCCCTCTGGCATTTGA 0.527 NaN 0 0 0 0.003163 0 14 180 UBASH3B 84959 broad.mit.edu 37 11 122672000 122672000 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:122672000G>C uc001pyi.3 + 11 1915 c.1555G>C c.(1555-1557)GAG>CAG p.E519Q NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing, 519 Protein tyrosine phosphatase (By similarity). cytoplasm|nucleus protein tyrosine phosphatase activity central_nervous_system(1) 1 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) ACCTCCATCAGAGTTAGCTGC 0.488 NaN 0 0 0 0.008871 0 16 206 OR8B2 26595 broad.mit.edu 37 11 124253209 124253209 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:124253209C>T uc010sai.1 - 1 31 c.31G>A c.(31-33)GAA>AAA p.E11K OR8B2_uc001qab.3_RNA NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 11 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AGAATAAATTCAGTCACTAAG 0.373 NaN 0 0 0 0.010818 0 12 138 PRDM10 56980 broad.mit.edu 37 11 129785719 129785719 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:129785719G>C uc001qfm.2 - 17 2606 c.2374C>G c.(2374-2376)CTG>GTG p.L792V PRDM10_uc001qfj.2_Missense_Mutation_p.L706V|PRDM10_uc001qfk.2_Missense_Mutation_p.L702V|PRDM10_uc001qfl.2_Missense_Mutation_p.L706V|PRDM10_uc010sbx.1_Missense_Mutation_p.L702V|PRDM10_uc001qfn.2_Missense_Mutation_p.L788V|PRDM10_uc009zcs.1_5'UTR NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 792 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) TGGTTCTTCAGAATGTGGGCT 0.532 NaN 0 0 0 0.001984 0 6 123 APLP2 334 broad.mit.edu 37 11 130003611 130003611 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:130003611C>G uc010sby.1 + 12 1829 c.1672C>G c.(1672-1674)CAA>GAA p.Q558E APLP2_uc001qfp.2_Missense_Mutation_p.Q558E|APLP2_uc001qfq.2_Missense_Mutation_p.Q502E|APLP2_uc010sbz.1_Missense_Mutation_p.Q346E|APLP2_uc001qfr.2_Missense_Mutation_p.Q324E|APLP2_uc001qfs.2_Missense_Mutation_p.Q329E|APLP2_uc001qfv.2_Missense_Mutation_p.Q449E NM_001642 NP_001633 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 558 Extracellular (Potential). G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity ovary(3) 3 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) CCAAGAAATTCAAGAGGAAAT 0.478 NaN 0 0 0 0.009096 0 4 78 C12orf4 57102 broad.mit.edu 37 12 4639192 4639192 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:4639192C>G uc001qms.2 - 4 437 c.349G>C c.(349-351)GAA>CAA p.E117Q C12orf4_uc001qmt.2_Missense_Mutation_p.E117Q NM_020374 NP_065107 Q9NQ89 CL004_HUMAN hypothetical protein LOC57102 117 0 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) CTGGGTTCTTCAGGCCTTGCA 0.343 NaN 0 0 0 0.001168 0 6 96 KLRC4 8302 broad.mit.edu 37 12 10562024 10562024 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:10562024C>G uc001qye.2 - 1 333 c.151G>C c.(151-153)GAT>CAT p.D51H KLRK1_uc001qyc.2_5'Flank|KLRK1_uc009zhk.2_5'UTR|KLRK1_uc001qyd.2_Intron NM_013431 NP_038459 O43908 NKG2F_HUMAN killer cell lectin-like receptor subfamily C, 51 Cytoplasmic (Potential). cellular defense response integral to membrane binding|receptor activity 0 CCTTGATGATCCGAAGAAGCA 0.353 NaN 0 0 0 0.003163 0 10 140 TAS2R9 50835 broad.mit.edu 37 12 10962188 10962188 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:10962188C>G uc001qyx.2 - 1 580 c.487G>C c.(487-489)GAA>CAA p.E163Q TAS2R8_uc010shh.1_5'Flank NM_023917 NP_076406 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 163 Extracellular (Potential). sensory perception of taste integral to membrane taste receptor activity skin(1) 1 GTAATGTTTTCTTCATGACTG 0.378 NaN 0 0 0 0.00308 0 8 61 MANSC1 54682 broad.mit.edu 37 12 12491411 12491411 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:12491411C>T uc001rai.1 - 3 565 c.307G>A c.(307-309)GAG>AAG p.E103K MANSC1_uc010shm.1_Missense_Mutation_p.E37K|MANSC1_uc001raj.1_Missense_Mutation_p.E69K|MANSC1_uc009zht.1_Missense_Mutation_p.E22K NM_018050 NP_060520 Q9H8J5 MANS1_HUMAN MANSC domain containing 1 precursor 103 MANSC.|Extracellular (Potential). integral to membrane 0 Prostate(47;0.0865) BRCA - Breast invasive adenocarcinoma(232;0.185) CAGGCTTCCTCGTTGGGACAG 0.383 NaN 0 0 0 0.001984 0 5 159 PIK3C2G 5288 broad.mit.edu 37 12 18552648 18552648 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:18552648G>A uc001rdt.2 + 15 2175 c.2059G>A c.(2059-2061)GAA>AAA p.E687K PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.E728K|PIK3C2G_uc010sic.1_Missense_Mutation_p.E506K NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 687 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) CTGCAATAATGAAAACTGCTC 0.388 NaN 0 0 0 0.005443 0 24 48 ABCC9 10060 broad.mit.edu 37 12 22063765 22063765 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:22063765G>C uc001rfi.1 - 7 1179 c.1159C>G c.(1159-1161)CTG>GTG p.L387V ABCC9_uc001rfh.2_Missense_Mutation_p.L387V|ABCC9_uc001rfj.1_Missense_Mutation_p.L387V NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 387 Cytoplasmic (Potential).|ABC transmembrane type-1 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CATACCAGCAGAGCTCCACGG 0.393 NaN 0 0 0 0.008871 0 7 105 FMNL3 91010 broad.mit.edu 37 12 50044977 50044977 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:50044977C>T uc001ruv.1 - 16 2005 c.1771G>A c.(1771-1773)GAA>AAA p.E591K FMNL3_uc001ruw.1_Missense_Mutation_p.E540K|FMNL3_uc001rut.1_Missense_Mutation_p.E157K|FMNL3_uc001ruu.1_Missense_Mutation_p.E441K NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN formin-like 3 isoform 1 591 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding breast(2)|pancreas(2) 4 TCATCAAGTTCGCTGAAGACA 0.512 NaN 0 0 0 0.008291 0 10 141 LIMA1 51474 broad.mit.edu 37 12 50642443 50642443 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:50642443G>A uc001rwj.3 - 2 266 c.92C>T c.(91-93)TCA>TTA p.S31L LIMA1_uc001rwk.3_Missense_Mutation_p.S31L|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 31 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 AATAGCCGATGACTTGTTCTT 0.438 NaN 0 0 0 0.010771 0 41 50 KRT79 338785 broad.mit.edu 37 12 53227849 53227849 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:53227849C>T uc001sbb.2 - 1 229 c.196G>A c.(196-198)GGG>AGG p.G66R NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 66 Head. keratin filament structural molecule activity ovary(2)|skin(2) 4 TTGTGGCCCCCCAAGTTATAG 0.642 NaN 0 0 0 0.007291 0 28 31 ESPL1 9700 broad.mit.edu 37 12 53676185 53676185 + Silent SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:53676185C>G uc001sck.2 + 14 2848 c.2757C>G c.(2755-2757)CTC>CTG p.L919L ESPL1_uc001scj.2_Silent_p.L594L|ESPL1_uc010soe.1_Silent_p.L130L NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 919 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 CAAACAACCTCTCACACTCCC 0.572 NaN 0 0 0 0.001168 0 5 63 TIMELESS 8914 broad.mit.edu 37 12 56825382 56825382 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:56825382C>T uc001slf.2 - 8 862 c.694G>A c.(694-696)GAG>AAG p.E232K TIMELESS_uc001slg.2_Missense_Mutation_p.E231K NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 232 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 GCCAGCTGCTCGGGGTTCTAG 0.517 NaN 0 0 0 0.000602 0 4 60 CDK4 1019 broad.mit.edu 37 12 58144834 58144834 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:58144834G>C uc001spv.2 - 4 621 c.394C>G c.(394-396)CAT>GAT p.H132D CDK4_uc010ssb.1_Missense_Mutation_p.H12D|CDK4_uc001spw.2_Intron|uc010ssc.1_5'Flank NM_000075 NP_000066 P11802 CDK4_HUMAN cyclin-dependent kinase 4 132 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1)|breast(1)|central_nervous_system(1) 3 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CAATTGGCATGAAGGAAATCT 0.488 NaN Mis melanoma Hereditary_Melanoma 0 0 0 0.001168 0 6 75 CDK4 1019 broad.mit.edu 37 12 58144855 58144855 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:58144855G>C uc001spv.2 - 4 600 c.373C>G c.(373-375)CTA>GTA p.L125V CDK4_uc010ssb.1_Missense_Mutation_p.L5V|CDK4_uc001spw.2_Intron|uc010ssc.1_5'Flank NM_000075 NP_000066 P11802 CDK4_HUMAN cyclin-dependent kinase 4 125 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1)|breast(1)|central_nervous_system(1) 3 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) AGGCCTCTTAGAAACTGGCGC 0.483 NaN Mis melanoma Hereditary_Melanoma 0 0 0 0.000602 0 4 68 SLC6A15 55117 broad.mit.edu 37 12 85266414 85266414 + Silent SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:85266414G>C uc001szv.2 - 8 1762 c.1269C>G c.(1267-1269)CTC>CTG p.L423L SLC6A15_uc010sul.1_Silent_p.L316L|SLC6A15_uc001szw.1_Silent_p.L131L NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 423 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 TACAGGAATTGAGATGAAGAG 0.318 NaN 0 0 0 0.012213 0 29 48 PLXNC1 10154 broad.mit.edu 37 12 94543416 94543416 + Silent SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:94543416C>G uc001tdc.2 + 1 918 c.669C>G c.(667-669)CTC>CTG p.L223L NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 223 Extracellular (Potential).|Sema. axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 TGGGGCGCCTCAAGCTGTGCG 0.687 NaN 0 0 0 0.004672 0 3 3 SYCP3 50511 broad.mit.edu 37 12 102122982 102122982 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:102122982C>T uc001tiq.2 - 8 694 c.562G>A c.(562-564)GAG>AAG p.E188K CHPT1_uc001tip.1_3'UTR|SYCP3_uc001tir.2_Missense_Mutation_p.E188K|SYCP3_uc001tis.2_Missense_Mutation_p.E188K NM_153694 NP_710161 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 188 Potential.|Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding 0 TTCTCCAACTCTTCCATACTC 0.289 NaN 0 0 0 0.007291 0 25 37 HCFC2 29915 broad.mit.edu 37 12 104487163 104487163 + Splice_Site SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:104487163G>A uc001tkj.3 + 10 1388 c.1285_splice c.e10-1 p.I429_splice HCFC2_uc009zul.2_Splice_Site NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN host cell factor C2 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity ovary(2)|central_nervous_system(1) 3 ATTTCTTGTAGATCAATGATA 0.279 NaN 0 0 0 0.001984 0 7 49 MMAB 326625 broad.mit.edu 37 12 110002929 110002929 + Nonsense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:110002929G>A uc001tou.2 - 4 416 c.343C>T c.(343-345)CAG>TAG p.Q115* MMAB_uc001tov.2_RNA|MMAB_uc001tow.2_RNA|MMAB_uc010sxq.1_Nonsense_Mutation_p.Q24*|MMAB_uc001tox.2_Nonsense_Mutation_p.Q63* NM_052845 NP_443077 Q96EY8 MMAB_HUMAN cob(I)alamin adenosyltransferase precursor 115 cobalamin biosynthetic process mitochondrion ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity 0 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTCACTTTCTGAAGCTCTTCG 0.408 NaN 0 0 0 0.003954 0 19 226 NAA25 80018 broad.mit.edu 37 12 112512548 112512548 + Missense_Mutation SNP T T C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:112512548T>C uc001ttm.2 - 9 817 c.797A>G c.(796-798)TAT>TGT p.Y266C NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.Y238C|NAA25_uc009zwa.1_Missense_Mutation_p.Y266C NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 266 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 ATAAGTCAGATAGAACTGCCA 0.398 NaN 0 0 0 0.01441 0 72 106 OASL 8638 broad.mit.edu 37 12 121465572 121465572 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:121465572G>C uc001tzj.1 - 4 712 c.706C>G c.(706-708)CTT>GTT p.L236V OASL_uc001tzk.1_Intron NM_003733 NP_003724 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like isoform a 236 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) AGAAGTTCAAGAGCATAGAGA 0.473 NaN 0 0 0 0.009096 0 3 78 GPR81 27198 broad.mit.edu 37 12 123214255 123214255 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:123214255C>G uc001ucz.2 - 1 875 c.632G>C c.(631-633)AGA>ACA p.R211T GPR81_uc001ucw.1_RNA NM_032554 NP_115943 Q9BXC0 HCAR1_HUMAN G protein-coupled receptor 81 211 Cytoplasmic (Potential). response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197) CCGAGCCTGTCTGGCCAGCTG 0.527 NaN 0 0 0 0.012213 0 28 38 GPR81 27198 broad.mit.edu 37 12 123214498 123214498 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:123214498C>T uc001ucz.2 - 1 632 c.389G>A c.(388-390)CGG>CAG p.R130Q GPR81_uc001ucw.1_RNA NM_032554 NP_115943 Q9BXC0 HCAR1_HUMAN G protein-coupled receptor 81 130 Cytoplasmic (Potential). response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.14e-05)|Epithelial(86;3.25e-05)|BRCA - Breast invasive adenocarcinoma(302;0.197) AGCCGCCACCCGGGTGGAGAT 0.602 NaN 0 0 0 0.01441 0 43 54 FLT3 2322 broad.mit.edu 37 13 28601286 28601286 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr13:28601286C>G uc001urw.2 - 17 2228 c.2146G>C c.(2146-2148)GAG>CAG p.E716Q FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.E716Q NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 716 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TTGAAAATCTCTGTCCAAGTC 0.358 NaN Mis|O AML|ALL 0 0 0 0.014323 0 18 244 FRY 10129 broad.mit.edu 37 13 32757127 32757127 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr13:32757127G>C uc001utx.2 + 24 3506 c.3010G>C c.(3010-3012)GAA>CAA p.E1004Q FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1004 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ATTGGTAGAAGAACTTCATCC 0.313 NaN 0 0 0 0.001984 0 7 78 ITM2B 9445 broad.mit.edu 37 13 48832951 48832951 + Missense_Mutation SNP C C G rs11556901 TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr13:48832951C>G uc001vbz.3 + 5 806 c.583C>G c.(583-585)CAG>GAG p.Q195E NM_021999 NP_068839 Q9Y287 ITM2B_HUMAN integral membrane protein 2B 195 BRICHOS.|Lumenal (Potential). nervous system development Golgi membrane|integral to membrane|nucleus|plasma membrane beta-amyloid binding 0 all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;1.97e-06) CTATTTGCCTCAGTCCTATCT 0.373 NaN 0 0 0 0.001984 0 5 61 RB1 5925 broad.mit.edu 37 13 48934194 48934194 + Nonsense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr13:48934194C>T uc001vcb.2 + 7 815 c.649C>T c.(649-651)CAG>TAG p.Q217* RB1_uc010acs.1_RNA|RB1_uc010act.1_5'UTR NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 217 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(5)|p.Q217*(2) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GATTTCATTTCAGTTAATGCT 0.308 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 0 0 0 0.01441 0 67 17 CKAP2 26586 broad.mit.edu 37 13 53039469 53039469 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr13:53039469C>T uc001vgv.2 + 6 1545 c.1348C>T c.(1348-1350)CTG>TTG p.L450L CKAP2_uc001vgt.2_Silent_p.L449L|CKAP2_uc001vgu.2_Silent_p.L449L|CKAP2_uc010tha.1_Silent_p.L401L NM_001098525 NP_001091995 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 isoform 2 450 apoptosis|cell cycle centrosome|microtubule|spindle pole ovary(1)|skin(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) ACTGAATGACCTGATTAAAAA 0.303 NaN 0 0 0 0.001984 0 5 173 PCDH8 5100 broad.mit.edu 37 13 53420766 53420766 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr13:53420766C>G uc001vhi.2 - 1 2009 c.1806G>C c.(1804-1806)CAG>CAC p.Q602H PCDH8_uc001vhj.2_Missense_Mutation_p.Q602H NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 602 Extracellular (Potential).|Cadherin 5. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CATGGTCGTTCTGGTCCAGCA 0.662 NaN 0 0 0 0.00308 0 5 10 DZIP1 22873 broad.mit.edu 37 13 96246297 96246297 + Silent SNP T T C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr13:96246297T>C uc001vmk.2 - 16 2433 c.1581A>G c.(1579-1581)TTA>TTG p.L527L DZIP1_uc001vmj.2_Silent_p.L3L|DZIP1_uc001vml.2_Silent_p.L508L NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 527 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) AAGCTTTCCTTAAATGCATTT 0.333 NaN 0 0 0 0.012213 0 34 66 GAS6 2621 broad.mit.edu 37 13 114523972 114523972 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr13:114523972C>T uc001vud.2 - 15 2055 c.1902G>A c.(1900-1902)GCG>GCA p.A634A GAS6_uc001vug.2_Silent_p.A335A|GAS6_uc001vuf.2_Silent_p.A361A NM_000820 NP_000811 Q14393 GAS6_HUMAN growth arrest-specific 6 isoform 1 precursor 677 Laminin G-like 2. cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4) 4 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) CGGTGACTGGCGCTGAAGTCA 0.672 NaN 0 0 0 0.001984 0 4 67 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr13:115047559C>T uc001vup.2 + 2 308 c.271C>T c.(271-273)CTG>TTG p.L91L UPF3A_uc010tkn.1_Silent_p.L91L|UPF3A_uc001vuq.2_Silent_p.L91L|UPF3A_uc001vus.2_RNA|UPF3A_uc001vur.2_RNA NM_023011 NP_075387 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding skin(1) 1 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731 NaN 0 0 0 0.004672 0 3 14 SALL2 6297 broad.mit.edu 37 14 21993420 21993420 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:21993420C>T uc001wbe.2 - 2 724 c.442G>A c.(442-444)GGA>AGA p.G148R SALL2_uc010tly.1_Missense_Mutation_p.G146R|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 148 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) GGGGTTGCTCCCAGCTTGGGA 0.652 NaN 0 0 0 0.01441 0 46 73 HECTD1 25831 broad.mit.edu 37 14 31626439 31626439 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:31626439C>T uc001wrc.1 - 11 2182 c.1693G>A c.(1693-1695)GAT>AAT p.D565N HECTD1_uc001wrd.1_Missense_Mutation_p.D80N NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN HECT domain containing 1 565 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) ACATCAGAATCACAAACTTCT 0.338 NaN 0 0 0 0.01441 0 74 87 KTN1 3895 broad.mit.edu 37 14 56142555 56142555 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:56142555G>A uc001xcb.2 + 42 4076 c.3774G>A c.(3772-3774)TTG>TTA p.L1258L KTN1_uc001xce.2_Silent_p.L1201L|KTN1_uc001xcc.2_Silent_p.L1258L|KTN1_uc001xcd.2_Silent_p.L1207L|KTN1_uc010trb.1_Silent_p.L1230L|KTN1_uc001xcf.1_Silent_p.L1207L|KTN1_uc010aoq.2_Silent_p.L496L|KTN1_uc010trc.1_Silent_p.L235L|KTN1_uc001xcg.2_Silent_p.L191L NM_182926 NP_891556 Q86UP2 KTN1_HUMAN kinectin 1 isoform a 1258 Lumenal (Potential).|Potential. microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(3)|ovary(2)|lung(1)|central_nervous_system(1) 7 TTTTACAGTTGAAGGCACAGT 0.368 NaN T RET papillary thryoid 0 0 0 0.014323 0 22 32 KIAA0586 9786 broad.mit.edu 37 14 58954657 58954657 + Silent SNP T T G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:58954657T>G uc001xdv.3 + 22 3402 c.3129T>G c.(3127-3129)ACT>ACG p.T1043T KIAA0586_uc010trr.1_Silent_p.T1160T|KIAA0586_uc001xdt.3_Silent_p.T1075T|KIAA0586_uc001xdu.3_Silent_p.T1104T|KIAA0586_uc010trs.1_Silent_p.T1034T|KIAA0586_uc010trt.1_Silent_p.T979T|KIAA0586_uc010tru.1_Silent_p.T979T NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 1043 ovary(1) 1 TTACCCCTACTACTACACCTC 0.418 NaN 0 0 0 0.010729 0 10 19 SYNE2 23224 broad.mit.edu 37 14 64619413 64619413 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:64619413G>C uc001xgm.2 + 85 16001 c.15771G>C c.(15769-15771)AAG>AAC p.K5257N SYNE2_uc001xgl.2_Missense_Mutation_p.K5257N|SYNE2_uc010apy.2_Missense_Mutation_p.K1642N|SYNE2_uc001xgn.2_Missense_Mutation_p.K219N|SYNE2_uc001xgo.2_RNA NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 5257 Spectrin 3.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TATTTCAAAAGAGAAGCAGTG 0.373 NaN 0 0 0 0.001984 0 5 85 ZFYVE26 23503 broad.mit.edu 37 14 68260378 68260378 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:68260378C>G uc001xka.2 - 14 2639 c.2500G>C c.(2500-2502)GAG>CAG p.E834Q ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.E834Q NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 834 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGCAGTGACTCAGGTGGGGAG 0.552 NaN 0 0 0 0.01441 0 44 24 PSEN1 5663 broad.mit.edu 37 14 73637508 73637508 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:73637508G>A uc001xnr.2 + 4 375 c.91G>A c.(91-93)GAC>AAC p.D31N PSEN1_uc001xnv.2_Missense_Mutation_p.D27N|PSEN1_uc010ark.2_Missense_Mutation_p.D27N|PSEN1_uc001xnt.1_RNA|PSEN1_uc001xnu.2_RNA|PSEN1_uc001xnq.3_Missense_Mutation_p.D31N NM_000021 NP_000012 P49768 PSN1_HUMAN presenilin 1 isoform I-467 31 Cytoplasmic (Potential). amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) CTTATAGAATGACAATAGAGA 0.483 NaN 0 0 0 0.000602 0 4 39 LIN52 91750 broad.mit.edu 37 14 74567922 74567922 + Silent SNP T T C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:74567922T>C uc001xpp.2 + 5 286 c.276T>C c.(274-276)TAT>TAC p.Y92Y LIN52_uc010asb.2_Intron NM_001024674 NP_001019845 Q52LA3 LIN52_HUMAN lin-52 homolog 92 breast(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00471) ACCTAGCCTATCAGCTGGGGC 0.488 NaN 0 0 0 0.012213 0 28 71 C14orf115 55237 broad.mit.edu 37 14 74825046 74825046 + Silent SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:74825046G>C uc001xpw.3 + 2 1751 c.1560G>C c.(1558-1560)CTG>CTC p.L520L NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 520 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) GGCAGGTGCTGAGTGGGCATC 0.672 NaN 0 0 0 0.01441 0 43 100 GSTZ1 2954 broad.mit.edu 37 14 77797454 77797454 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:77797454C>G uc001xtj.2 + 9 849 c.567C>G c.(565-567)ATC>ATG p.I189M GSTZ1_uc001xtk.2_Missense_Mutation_p.I147M|GSTZ1_uc010ass.2_Missense_Mutation_p.I134M|GSTZ1_uc001xtm.2_Missense_Mutation_p.I134M NM_145870 NP_665877 O43708 MAAI_HUMAN glutathione transferase zeta 1 isoform 1 189 GST C-terminal. glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol|mitochondrion glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) Glutathione(DB00143) TCAGCTCCATCAACAAGAGGC 0.567 NaN 0 0 0 0.01441 0 54 47 SERPINA9 327657 broad.mit.edu 37 14 94936059 94936059 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:94936059G>C uc001ydf.2 - 2 334 c.173C>G c.(172-174)CCT>CGT p.P58R SERPINA9_uc001yde.2_Missense_Mutation_p.P58R|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.P58R|SERPINA9_uc001ydi.1_Intron NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 40 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) CTGTGAGGCAGGGGTGCTCTT 0.577 NaN 0 0 0 0.013537 0 10 73 RAGE 5891 broad.mit.edu 37 14 102718331 102718331 + Silent SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:102718331C>G uc001ylm.2 - 5 511 c.285G>C c.(283-285)GGG>GGC p.G95G RAGE_uc010txv.1_Silent_p.G65G|RAGE_uc001yln.2_5'UTR NM_014226 NP_055041 Q9UQ07 MOK_HUMAN MAPK/MAK/MRK overlapping kinase 95 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 GGTATCTTCTCCCTGTACAAT 0.318 NaN 0 0 0 0.001168 0 5 71 KIF26A 26153 broad.mit.edu 37 14 104642805 104642805 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr14:104642805G>A uc001yos.3 + 12 3680 c.3680G>A c.(3679-3681)CGC>CAC p.R1227H NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN kinesin family member 26A 1227 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity pancreas(1) 1 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GGCTGTGCTCGCCTGGGCCAG 0.701 NaN 0 0 0 0.00499 0 16 21 NUSAP1 51203 broad.mit.edu 37 15 41657646 41657646 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr15:41657646G>C uc001zns.3 + 7 937 c.707G>C c.(706-708)AGA>ACA p.R236T NUSAP1_uc001znq.3_Missense_Mutation_p.R41T|NUSAP1_uc001znr.3_Missense_Mutation_p.R235T|NUSAP1_uc010bce.2_Missense_Mutation_p.R236T|NUSAP1_uc001znt.3_Missense_Mutation_p.R221T|NUSAP1_uc001znv.3_Missense_Mutation_p.R234T|NUSAP1_uc001znu.3_Missense_Mutation_p.R235T|NUSAP1_uc010ucw.1_Missense_Mutation_p.R212T|NUSAP1_uc001znw.3_Missense_Mutation_p.R40T NM_016359 NP_057443 Q9BXS6 NUSAP_HUMAN nucleolar and spindle associated protein 1 236 cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis chromosome|cytoplasm|nucleolus DNA binding 0 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168) GTACCTCCAAGAGGAAGACTC 0.493 NaN 0 0 0 0.00308 0 6 6 SHC4 399694 broad.mit.edu 37 15 49255156 49255156 + Missense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr15:49255156G>T uc001zxb.1 - 1 486 c.57C>A c.(55-57)TTC>TTA p.F19L NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 19 CH2. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) CGGGGTGCCCGAAGAGTCCTA 0.592 NaN 1 0 4.85316e-53 0.01441 5.28836e-53 81 27 IGDCC4 57722 broad.mit.edu 37 15 65702611 65702611 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr15:65702611C>T uc002aou.1 - 3 678 c.468G>A c.(466-468)GAG>GAA p.E156E NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 156 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane p.E156V(1) ovary(1)|pancreas(1)|skin(1) 3 CTGTCCCGTTCTCCTCCACCG 0.577 NaN 0 0 0 0.000602 0 3 59 MPI 4351 broad.mit.edu 37 15 75183866 75183866 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr15:75183866C>T uc002azc.1 + 3 296 c.291C>T c.(289-291)CTC>CTT p.L97L MPI_uc010ulv.1_Silent_p.L97L|MPI_uc010ulw.1_Silent_p.L47L|MPI_uc002azd.1_Silent_p.L97L|MPI_uc010ulx.1_Silent_p.L47L|MPI_uc002aze.1_Silent_p.L97L NM_002435 NP_002426 P34949 MPI_HUMAN mannose-6- phosphate isomerase 97 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding ovary(2) 2 TGCCCTTCCTCTTCAAAGTGC 0.527 NaN 0 0 0 0.006122 0 18 108 UNC45A 55898 broad.mit.edu 37 15 91483695 91483695 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr15:91483695C>G uc002bqg.2 + 6 1019 c.679C>G c.(679-681)CAG>GAG p.Q227E UNC45A_uc002bqd.2_Missense_Mutation_p.Q212E|UNC45A_uc010uqo.1_Missense_Mutation_p.Q219E|UNC45A_uc010uqp.1_RNA|UNC45A_uc010uqq.1_Missense_Mutation_p.Q227E NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 227 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CTCTGAGCATCAGTCACGGGT 0.433 NaN 0 0 0 0.00308 0 6 37 WDR90 197335 broad.mit.edu 37 16 700002 700002 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr16:700002G>A uc002cii.1 + 3 168 c.114G>A c.(112-114)CTG>CTA p.L38L WDR90_uc002cig.1_Silent_p.L38L|WDR90_uc002cih.1_Silent_p.L38L|WDR90_uc002cij.1_RNA NM_145294 NP_660337 Q96KV7 WDR90_HUMAN WD repeat domain 90 38 ovary(1) 1 Hepatocellular(780;0.0218) ACAAGACCCTGAAGGGCGCCG 0.667 NaN 0 0 0 0.008291 0 11 53 TIGD7 91151 broad.mit.edu 37 16 3349173 3349173 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr16:3349173C>T uc002cus.2 - 1 2228 c.1442G>A c.(1441-1443)AGA>AAA p.R481K ZNF263_uc002cur.2_3'UTR NM_033208 NP_149985 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 481 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 CAAACTCTCTCTTACAGCAGA 0.393 NaN 0 0 0 0.01441 0 74 15 CREBBP 1387 broad.mit.edu 37 16 3820785 3820785 + Nonsense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr16:3820785G>C uc002cvv.2 - 14 2870 c.2666C>G c.(2665-2667)TCA>TGA p.S889* CREBBP_uc002cvw.2_Nonsense_Mutation_p.S851* NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 889 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) CACAGGAGTTGATGGCTGAGT 0.642 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.00308 0 6 35 GP2 2813 broad.mit.edu 37 16 20331027 20331027 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr16:20331027C>G uc002dgv.2 - 7 1014 c.931G>C c.(931-933)GAC>CAC p.D311H GP2_uc002dgw.2_Missense_Mutation_p.D308H|GP2_uc002dgx.2_Missense_Mutation_p.D164H|GP2_uc002dgy.2_Missense_Mutation_p.D161H NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 311 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 AGGATGGTGTCTCTGATGATG 0.438 NaN 0 0 0 0.01441 0 117 23 ACSM2B 348158 broad.mit.edu 37 16 20552067 20552067 + Nonsense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr16:20552067G>T uc002dhj.3 - 14 1748 c.1538C>A c.(1537-1539)TCG>TAG p.S513* ACSM2B_uc002dhk.3_Nonsense_Mutation_p.S513* NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 513 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 TAGGAACTGCGAGGCCAGGAT 0.478 NaN 1 0 8.16569e-41 0.01441 8.77867e-41 67 13 ZNF689 115509 broad.mit.edu 37 16 30616005 30616005 + Silent SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr16:30616005G>C uc002dyx.2 - 3 1403 c.1083C>G c.(1081-1083)CTC>CTG p.L361L ZNF689_uc010bzy.2_Missense_Mutation_p.S17C NM_138447 NP_612456 Q96CS4 ZN689_HUMAN zinc finger protein HIT-39 361 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) GCTGGTGCTGGAGCAGCGTGC 0.687 NaN 0 0 0 0.009096 0 2 9 ZNF689 115509 broad.mit.edu 37 16 30616651 30616651 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr16:30616651G>A uc002dyx.2 - 3 757 c.437C>T c.(436-438)TCC>TTC p.S146F ZNF689_uc010bzy.2_5'UTR NM_138447 NP_612456 Q96CS4 ZN689_HUMAN zinc finger protein HIT-39 146 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) GGGGCCCCCGGACGTCTGCCT 0.602 NaN 0 0 0 0.003163 0 12 76 KCTD19 146212 broad.mit.edu 37 16 67323532 67323532 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr16:67323532C>G uc002esu.2 - 16 2772 c.2721G>C c.(2719-2721)CAG>CAC p.Q907H KCTD19_uc002est.2_Missense_Mutation_p.Q679H|KCTD19_uc010vjj.1_Missense_Mutation_p.Q650H NM_001100915 NP_001094385 Q17RG1 KCD19_HUMAN potassium channel tetramerisation domain 907 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) ACAGGCCCCTCTGGATGAGCA 0.562 NaN 0 0 0 0.01441 0 60 15 CDH13 1012 broad.mit.edu 37 16 83704469 83704469 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr16:83704469C>T uc002fgx.2 + 9 1296 c.1176C>T c.(1174-1176)ACC>ACT p.T392T CDH13_uc010vns.1_Silent_p.T439T|CDH13_uc010vnt.1_Silent_p.T138T|CDH13_uc010vnu.1_Silent_p.T353T NM_001257 NP_001248 P55290 CAD13_HUMAN cadherin 13 preproprotein 392 Cadherin 3. T -> A (in Ref. 4; AAH28624/AAH30653). adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) ATGACCCCACCACAGGTGCAT 0.498 NaN 0 0 0 0.01441 0 47 6 MYO1C 4641 broad.mit.edu 37 17 1370776 1370776 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:1370776G>A uc002fsp.2 - 30 3283 c.3063C>T c.(3061-3063)GGC>GGT p.G1021G MYO1C_uc002fsn.2_Silent_p.G1002G|MYO1C_uc002fso.2_Silent_p.G986G NM_001080779 NP_001074248 O00159 MYO1C_HUMAN myosin IC isoform a 1021 mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CGCCTCACCTGCCCTGGTTGA 0.677 NaN 0 0 0 0.010729 0 10 68 TEKT1 83659 broad.mit.edu 37 17 6703366 6703366 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:6703366G>A uc002gdt.2 - 8 1347 c.1237C>T c.(1237-1239)CGC>TGC p.R413C TEKT1_uc010vth.1_Missense_Mutation_p.R267C NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 413 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) GCATCAGGGCGGAGGCCCCCA 0.488 NaN 0 0 0 0.01441 0 63 105 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.01441 0 63 11 PIGL 9487 broad.mit.edu 37 17 16137360 16137360 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:16137360C>G uc002gpv.2 + 2 343 c.311C>G c.(310-312)TCC>TGC p.S104C PIGL_uc010vwd.1_Missense_Mutation_p.S104C NM_004278 NP_004269 Q9Y2B2 PIGL_HUMAN phosphatidylinositol glycan anchor biosynthesis, 104 Cytoplasmic (Potential). C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane N-acetylglucosaminylphosphatidylinositol deacetylase activity 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0934) ATTCCACTCTCCAGTGTAATG 0.333 NaN 0 0 0 0.01441 0 79 8 FAM83G 644815 broad.mit.edu 37 17 18880947 18880947 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:18880947C>G uc002guw.2 - 5 2199 c.2032G>C c.(2032-2034)GAT>CAT p.D678H SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 678 ovary(1)|central_nervous_system(1) 2 TTCAACGCATCTGCTTCTTCT 0.652 NaN 0 0 0 0.013537 0 10 60 MAPK7 5598 broad.mit.edu 37 17 19285429 19285429 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:19285429C>T uc002gvn.2 + 5 2199 c.1813C>T c.(1813-1815)CCT>TCT p.P605S MAPK7_uc002gvo.2_Missense_Mutation_p.P466S|MAPK7_uc002gvq.2_Missense_Mutation_p.P605S|MAPK7_uc002gvp.2_Missense_Mutation_p.P605S|uc010vyt.1_5'Flank NM_139033 NP_620602 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 isoform 1 605 May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich. cell cycle|cell differentiation|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|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) ACCTACCAGTCCTCCTCCTGG 0.423 NaN 0 0 0 0.003163 0 13 0 DHRS7B 25979 broad.mit.edu 37 17 21086979 21086979 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:21086979G>A uc002gyo.2 + 4 409 c.382G>A c.(382-384)GAG>AAG p.E128K NM_015510 NP_056325 Q6IAN0 DRS7B_HUMAN dehydrogenase/reductase (SDR family) member 7B 128 Peroxisomal (Potential). integral to membrane|peroxisomal membrane binding|oxidoreductase activity pancreas(1) 1 AGCAGCAGCTGAGATCCTGCA 0.498 NaN 0 0 0 0.009535 0 27 37 RAB11FIP4 84440 broad.mit.edu 37 17 29857477 29857477 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:29857477C>T uc002hgn.1 + 14 2016 c.1787C>T c.(1786-1788)TCG>TTG p.S596L RAB11FIP4_uc002hgo.2_Missense_Mutation_p.S494L NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 596 Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.|FIP-RBD. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GACACCGCCTCGCGCGATGAG 0.582 NaN 0 0 0 0.01441 0 67 61 RAD51L3 5892 broad.mit.edu 37 17 33430494 33430494 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:33430494G>A uc002hir.2 - 7 902 c.646C>T c.(646-648)CTG>TTG p.L216L RFFL_uc002hiq.2_Silent_p.L57L|RAD51L3_uc010ctj.2_Missense_Mutation_p.S34F|RAD51L3_uc010wcd.1_Silent_p.L236L|RAD51L3_uc002his.2_Silent_p.L104L|RAD51L3_uc010ctk.2_Silent_p.L97L|RAD51L3_uc010wce.1_Silent_p.L97L|RAD51L3_uc002hit.2_Silent_p.L97L|RAD51L3_uc002hiu.2_Silent_p.L39L NM_002878 NP_002869 O75771 RA51D_HUMAN RAD51-like 3 isoform 1 216 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TGACCTCCCAGAAGTGGGGAA 0.592 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 0.01441 0 47 66 MED1 5469 broad.mit.edu 37 17 37587411 37587411 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:37587411C>G uc002hrv.3 - 9 818 c.606G>C c.(604-606)AAG>AAC p.K202N MED1_uc010wee.1_Missense_Mutation_p.K30N|MED1_uc002hru.2_Missense_Mutation_p.K202N NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 202 Interaction with ESR1.|Interaction with the Mediator complex.|Interaction with the Mediator complex and THRA. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) CATGAAGAATCTTATCCAAGG 0.393 NaN HNSCC(31;0.082) 0 0 0 0.01441 0 83 114 KRT33A 3883 broad.mit.edu 37 17 39502796 39502796 + Missense_Mutation SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:39502796C>A uc002hwk.1 - 6 1038 c.1001G>T c.(1000-1002)CGG>CTG p.R334L NM_004138 NP_004129 O76009 KT33A_HUMAN keratin 33A 334 Coil 2.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) CTGGTTCTGCCGCTCCAGGTC 0.632 NaN 1 0 5.78178e-49 0.01441 6.24931e-49 84 108 KRT34 3885 broad.mit.edu 37 17 39538044 39538044 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:39538044G>C uc002hwm.2 - 2 490 c.478C>G c.(478-480)CTG>GTG p.L160V NM_021013 NP_066293 O76011 KRT34_HUMAN keratin 34 160 Rod.|Coil 1B. epidermis development intermediate filament protein binding|structural molecule activity central_nervous_system(1) 1 Breast(137;0.000496) TTGGCACACAGAATCTGAAAA 0.483 NaN 0 0 0 0.01441 0 39 45 UBTF 7343 broad.mit.edu 37 17 42284923 42284923 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:42284923C>T uc002igb.2 - 19 2135 c.2068G>A c.(2068-2070)GAG>AAG p.E690K UBTF_uc002igc.2_Missense_Mutation_p.E653K|UBTF_uc010czs.2_Missense_Mutation_p.E690K|UBTF_uc002igd.2_Missense_Mutation_p.E653K|UBTF_uc010czt.2_Missense_Mutation_p.E690K NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 690 Asp/Glu/Ser-rich (acidic). positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) tcttcatcctcgtcctcgtca 0.428 NaN 0 0 0 0.004007 0 16 26 MAPT 4137 broad.mit.edu 37 17 44067367 44067368 + Missense_Mutation DNP CC CC AT TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:44067367_44067368CC>AT uc002ijr.3 + 8 1626_1627 c.1306_1307CC>AT c.(1306-1308)CCT>ATT p.P436I MAPT_uc010dau.2_Missense_Mutation_p.P436I|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 436 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) CCCAGAGCCACCTTCCTCTCCT 0.515 NaN 0 0 0 0.004672 0 126 151 MAPT 4137 broad.mit.edu 37 17 44067427 44067427 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:44067427G>A uc002ijr.3 + 8 1686 c.1366G>A c.(1366-1368)GAG>AAG p.E456K MAPT_uc010dau.2_Missense_Mutation_p.E456K|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron NM_016835 NP_058519 P10636 TAU_HUMAN microtubule-associated protein tau isoform 1 456 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) TGGAGCAAAGGAGATGAAACT 0.453 NaN 0 0 0 0.00623 0 31 44 TTLL6 284076 broad.mit.edu 37 17 46863537 46863537 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:46863537C>T uc010wlo.1 - 13 1785 c.1750G>A c.(1750-1752)GCC>ACC p.A584T TTLL6_uc002iob.2_Missense_Mutation_p.A277T|TTLL6_uc010dbi.2_RNA|TTLL6_uc002ioc.2_Missense_Mutation_p.A337T|TTLL6_uc002iod.2_Missense_Mutation_p.A431T NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 536 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity 0 TGTTTGGAGGCTTGGGTGGCG 0.587 NaN 0 0 0 0.01441 0 231 305 SPOP 8405 broad.mit.edu 37 17 47699430 47699430 + Splice_Site SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:47699430C>A uc010dbk.2 - 4 711 c.79_splice c.e4-1 p.I27_splice SPOP_uc002ipb.2_Splice_Site_p.I27_splice|SPOP_uc002ipc.2_Splice_Site_p.I27_splice|SPOP_uc002ipd.2_Splice_Site_p.I27_splice|SPOP_uc002ipe.2_Splice_Site_p.I27_splice|SPOP_uc002ipf.2_Splice_Site_p.I27_splice|SPOP_uc002ipg.2_Splice_Site_p.I27_splice NM_003563 NP_003554 O43791 SPOP_HUMAN speckle-type POZ protein mRNA processing nucleus protein binding prostate(2)|ovary(2)|lung(2) 6 CTACCTTGATCTGTTGATAGA 0.398 NaN Prostate(2;0.17) 1 0 5.03518e-11 0.007413 5.31344e-11 14 21 UTP18 51096 broad.mit.edu 37 17 49337968 49337968 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:49337968G>A uc002its.2 + 1 72 c.23G>A c.(22-24)CGA>CAA p.R8Q MBTD1_uc002itr.3_5'Flank|MBTD1_uc002itq.3_5'Flank NM_016001 NP_057085 Q9Y5J1 UTP18_HUMAN UTP18, small subunit processome component 8 rRNA processing nucleolus 0 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) CGGAGGAGACGAATGAAACTG 0.687 NaN 0 0 0 0.006214 0 7 19 MARCH10 162333 broad.mit.edu 37 17 60813767 60813767 + Missense_Mutation SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:60813767C>A uc010ddr.2 - 6 1700 c.1462G>T c.(1462-1464)GAC>TAC p.D488Y MARCH10_uc002jag.3_Missense_Mutation_p.D488Y|MARCH10_uc010dds.2_Missense_Mutation_p.D526Y|MARCH10_uc002jah.2_Missense_Mutation_p.D487Y|uc002jaj.1_RNA|uc002jak.2_RNA NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 488 ligase activity|zinc ion binding 0 ATTGACAAGTCTACTGGAATA 0.433 NaN 1 0 6.31663e-08 0.003163 6.56209e-08 13 133 GPR142 350383 broad.mit.edu 37 17 72368385 72368385 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:72368385G>A uc010wqy.1 + 4 1035 c.1035G>A c.(1033-1035)CGG>CGA p.R345R GPR142_uc010wqx.1_Silent_p.R257R NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 345 Cytoplasmic (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GGAGGGGCCGGAGTGGGCTGC 0.627 NaN 0 0 0 0.00632 0 27 33 NUP85 79902 broad.mit.edu 37 17 73231773 73231773 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:73231773G>A uc002jng.1 + 19 2230 c.1970G>A c.(1969-1971)TGA>TAA p.*657* NUP85_uc010dgd.1_Silent_p.*612*|NUP85_uc010wrv.1_Silent_p.*611*|NUP85_uc002jnh.1_Silent_p.*260* NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 657 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) GAAGGTTCCTGAGAACTGCTT 0.398 NaN 0 0 0 0.008291 0 8 70 SAP30BP 29115 broad.mit.edu 37 17 73695901 73695901 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:73695901G>A uc002jpe.2 + 5 400 c.346G>A c.(346-348)GAA>AAA p.E116K SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.E100K NM_013260 NP_037392 Q9UHR5 S30BP_HUMAN transcriptional regulator protein 116 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) GTCGCCTGATGAAATCAAGAT 0.428 NaN 0 0 0 0.01441 0 73 175 SAP30BP 29115 broad.mit.edu 37 17 73695932 73695932 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:73695932G>C uc002jpe.2 + 5 431 c.377G>C c.(376-378)AGA>ACA p.R126T SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.R110T NM_013260 NP_037392 Q9UHR5 S30BP_HUMAN transcriptional regulator protein 126 apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 all_cancers(13;6.42e-08) all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCCCTGGCAGATGTTCAAAT 0.453 NaN 0 0 0 0.01441 0 53 152 EIF4A3 9775 broad.mit.edu 37 17 78111277 78111277 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr17:78111277C>T uc010wuc.1 - 10 964 c.891G>A c.(889-891)ATG>ATA p.M297I EIF4A3_uc002jxs.2_Missense_Mutation_p.M297I NM_014740 NP_055555 P38919 IF4A3_HUMAN eukaryotic translation initiation factor 4A, 297 Helicase C-terminal. mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding ovary(1) 1 all_neural(118;0.117) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139) TGGCTTCCCTCATTTTCTCCG 0.517 NaN 0 0 0 0.00632 0 24 24 NDC80 10403 broad.mit.edu 37 18 2578034 2578034 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr18:2578034G>C uc002kli.2 + 5 552 c.370G>C c.(370-372)GAC>CAC p.D124H NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 124 Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 CTCTGTTAAAGACTTCCTGAA 0.368 NaN 0 0 0 0.006214 0 8 246 LPIN2 9663 broad.mit.edu 37 18 2921615 2921615 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr18:2921615G>A uc002klo.2 - 18 2597 c.2358C>T c.(2356-2358)TTC>TTT p.F786F NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 786 C-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) ACTCAATTTTGAACTTCTCTG 0.393 NaN 0 0 0 0.004482 0 8 204 EPB41L3 23136 broad.mit.edu 37 18 5489114 5489114 + Silent SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr18:5489114C>A uc002kmt.1 - 2 155 c.69G>T c.(67-69)GCG>GCT p.A23A EPB41L3_uc010wzh.1_Silent_p.A23A|EPB41L3_uc002kmu.1_Silent_p.A23A|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Silent_p.A45A|EPB41L3_uc002kmv.1_5'UTR NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 23 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 cctgcgcccccgccgccTCCT 0.517 NaN 1 0 1.30293e-26 0.003271 1.397e-26 31 57 PPP4R1 9989 broad.mit.edu 37 18 9570582 9570582 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr18:9570582C>T uc002koe.1 - 11 1264 c.1146G>A c.(1144-1146)ACG>ACA p.T382T PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Silent_p.T228T|PPP4R1_uc002kod.1_Silent_p.T365T|PPP4R1_uc010wzp.1_RNA NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 382 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 GGTCTTCCATCGTGTTTTCCA 0.478 NaN 0 0 0 0.01441 0 161 79 AFG3L2 10939 broad.mit.edu 37 18 12367072 12367072 + Silent SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr18:12367072G>C uc002kqz.1 - 5 557 c.444C>G c.(442-444)CTC>CTG p.L148L NM_006796 NP_006787 Q9Y4W6 AFG32_HUMAN AFG3 ATPase family gene 3-like 2 148 Helical; (Potential). cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 Adenosine triphosphate(DB00171) GAGCAGTCCAGAGGAAGAACA 0.453 NaN 0 0 0 0.013537 0 11 192 ANKRD30B 374860 broad.mit.edu 37 18 14764040 14764040 + Silent SNP T T C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr18:14764040T>C uc010dlo.2 + 7 1356 c.1176T>C c.(1174-1176)AAT>AAC p.N392N ANKRD30B_uc010xak.1_RNA NM_001145029 NP_001138501 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 392 ovary(1)|skin(1) 2 GAACATCTAATATGATTGCAT 0.383 NaN 0 0 0 0.004289 0 32 9 ZNF521 25925 broad.mit.edu 37 18 22807046 22807046 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr18:22807046G>A uc002kvk.2 - 4 1083 c.836C>T c.(835-837)GCG>GTG p.A279V ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.A279V|ZNF521_uc002kvl.2_Missense_Mutation_p.A59V NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 279 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CTGGAGGGCCGCTCGGTCCTC 0.557 NaN T PAX5 ALL 0 0 0 0.004672 0 3 55 DSC3 1825 broad.mit.edu 37 18 28588292 28588292 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr18:28588292G>A uc002kwj.3 - 10 1618 c.1463C>T c.(1462-1464)TCA>TTA p.S488L DSC3_uc002kwi.3_Missense_Mutation_p.S488L NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 488 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) GTTGATCTTTGACCCCACTGC 0.403 NaN 0 0 0 0.001168 0 5 22 DSG4 147409 broad.mit.edu 37 18 28972175 28972175 + Missense_Mutation SNP A A G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr18:28972175A>G uc002kwq.2 + 8 1012 c.877A>G c.(877-879)ATT>GTT p.I293V DSG4_uc002kwr.2_Missense_Mutation_p.I293V NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 293 Cadherin 3.|Extracellular (Potential). Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATTACAAGCAATTGATCTTGA 0.343 NaN 0 0 0 0.008291 0 9 54 MC4R 4160 broad.mit.edu 37 18 58038604 58038604 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr18:58038604C>T uc002lie.1 - 1 1398 c.979G>A c.(979-981)GAC>AAC p.D327N NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 327 Cytoplasmic (Potential). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) CTAGACAAGTCACAAAGGCCT 0.418 NaN 0 0 0 0.01441 0 41 23 ATP9B 374868 broad.mit.edu 37 18 77089190 77089190 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr18:77089190G>C uc002lmx.2 + 16 1837 c.1823G>C c.(1822-1824)AGG>ACG p.R608T ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.R608T|ATP9B_uc002lmz.1_Missense_Mutation_p.R302T NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 608 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) CTGGTCAGCAGGGACCTCACC 0.622 NaN 0 0 0 0.001168 0 6 16 PIAS4 51588 broad.mit.edu 37 19 4028756 4028756 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:4028756G>C uc002lzg.2 + 6 721 c.711G>C c.(709-711)AAG>AAC p.K237N NM_015897 NP_056981 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 237 PINIT. positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TGGAGCCCAAGAGGCCGTGCC 0.647 NaN 0 0 0 0.006214 0 7 32 PLIN4 729359 broad.mit.edu 37 19 4511893 4511893 + Silent SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:4511893C>G uc002mar.1 - 3 2037 c.2037G>C c.(2035-2037)CTG>CTC p.L679L PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 679 18.|27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane 0 TGGTGCCGGTCAGCACGGTCT 0.577 NaN 0 0 0 0.00245 0 11 252 UHRF1 29128 broad.mit.edu 37 19 4944248 4944248 + Nonsense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:4944248C>G uc002mbo.2 + 8 1346 c.1178C>G c.(1177-1179)TCA>TGA p.S393* UHRF1_uc010xik.1_RNA|UHRF1_uc010duf.2_RNA|UHRF1_uc002mbp.2_Nonsense_Mutation_p.S406* NM_001048201 NP_001041666 Q96T88 UHRF1_HUMAN ubiquitin-like with PHD and ring finger domains 393 Methyl-CpG binding and interaction with HDAC1. cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) ACATCGTCCTCACAGCGGGAC 0.652 NaN 0 0 0 0.001168 0 4 39 GPR108 56927 broad.mit.edu 37 19 6732095 6732095 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:6732095C>T uc002mfp.2 - 13 1243 c.1197G>A c.(1195-1197)AAG>AAA p.K399K GPR108_uc010duv.2_5'UTR|GPR108_uc002mfn.2_Silent_p.K70K|GPR108_uc002mfo.3_Silent_p.K157K|GPR108_uc010duw.2_RNA NM_001080452 NP_001073921 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 isoform 1 399 integral to membrane 0 ACAAAATCTCCTTCCACAGCA 0.652 NaN 0 0 0 0.001855 0 12 4 ZNF823 55552 broad.mit.edu 37 19 11833886 11833886 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:11833886C>G uc002msm.2 - 4 589 c.463G>C c.(463-465)GAA>CAA p.E155Q ZNF823_uc010xmd.1_5'UTR|ZNF823_uc010dyi.1_Missense_Mutation_p.E111Q NM_001080493 NP_001073962 P16415 ZN823_HUMAN ZFP-36 for a zinc finger protein 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GGGGGCCTTTCATGTGTCTGG 0.468 NaN HNSCC(68;0.2) 0 0 0 0.001855 0 13 68 ABHD8 79575 broad.mit.edu 37 19 17405223 17405223 + Missense_Mutation SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:17405223C>A uc002ngb.3 - 4 1263 c.1023G>T c.(1021-1023)ATG>ATT p.M341I NM_024527 NP_078803 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 341 hydrolase activity 0 GGCCGCTCATCATGGCCCGGA 0.632 NaN 1 0 8.34094e-07 0.008871 8.57619e-07 18 158 ZNF536 9745 broad.mit.edu 37 19 31039136 31039136 + Silent SNP G G A rs149881182 byFrequency TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:31039136G>A uc002nsu.1 + 4 2748 c.2610G>A c.(2608-2610)TCG>TCA p.S870S ZNF536_uc010edd.1_Silent_p.S870S NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 870 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GAGATCACTCGGGGCAGGCCA 0.582 NaN 0 0 0 0.009535 0 31 40 SARS2 54938 broad.mit.edu 37 19 39421292 39421292 + Missense_Mutation SNP T T C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:39421292T>C uc002oka.2 - 1 245 c.85A>G c.(85-87)AGT>GGT p.S29G SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_Missense_Mutation_p.S29G|SARS2_uc002okb.2_Missense_Mutation_p.S29G|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_RNA|SARS2_uc010xus.1_Missense_Mutation_p.S29G|MRPS12_uc002okc.2_5'Flank|MRPS12_uc002okd.2_5'Flank|MRPS12_uc002oke.2_5'Flank NM_017827 NP_060297 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2 isoform b precursor 29 seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CTCCTTGGACTATCGTTGGAG 0.607 NaN OREG0025455 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004672 0 3 88 AXL 558 broad.mit.edu 37 19 41737167 41737167 + Silent SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:41737167G>C uc010ehj.2 + 6 937 c.747G>C c.(745-747)CTG>CTC p.L249L CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Silent_p.L249L|AXL_uc010ehk.2_Silent_p.L249L NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 249 Extracellular (Potential).|Fibronectin type-III 1. 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 CTCCAGGCCTGAGCGGCATCT 0.622 NaN 0 0 0 0.001168 0 4 77 ZNF221 7638 broad.mit.edu 37 19 44470975 44470975 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:44470975C>G uc002oxx.2 + 6 1649 c.1321C>G c.(1321-1323)CAG>GAG p.Q441E ZNF221_uc010ejb.1_Missense_Mutation_p.Q441E|ZNF221_uc010xws.1_Missense_Mutation_p.Q441E NM_013359 NP_037491 Q9UK13 ZN221_HUMAN zinc finger protein 221 441 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Prostate(69;0.0352) ATCTTCCCATCAGAGATCCCA 0.433 NaN 0 0 0 0.008291 0 9 87 MARK4 57787 broad.mit.edu 37 19 45805792 45805792 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:45805792C>T uc002pbb.1 + 17 2088 c.2083C>T c.(2083-2085)CTG>TTG p.L695L MARK4_uc002pba.1_3'UTR Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 695 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) ACAGCCGTTCCTGCTGGCCTG 0.726 NaN 0 0 0 0.001984 0 4 6 CD3EAP 10849 broad.mit.edu 37 19 45912513 45912513 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:45912513G>C uc002pbq.1 + 3 1775 c.1287G>C c.(1285-1287)GAG>GAC p.E429D PPP1R13L_uc002pbo.2_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbr.1_Missense_Mutation_p.E431D NM_012099 NP_036231 O15446 RPA34_HUMAN CD3E antigen, epsilon polypeptide associated 429 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) agaagaaagagaGAGGTCACA 0.537 NaN 0 0 0 0.010504 0 22 10 QPCTL 54814 broad.mit.edu 37 19 46206179 46206179 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:46206179C>G uc010xxr.1 + 7 1242 c.1021C>G c.(1021-1023)CTC>GTC p.L341V QPCTL_uc010ekn.2_Missense_Mutation_p.L247V NM_017659 NP_060129 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like isoform 341 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) CGTGCTCCATCTCATCTCCAC 0.597 NaN 0 0 0 0.01441 0 86 125 CARD8 22900 broad.mit.edu 37 19 48734962 48734962 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:48734962C>T uc002pie.3 - 4 495 c.182G>A c.(181-183)GGA>GAA p.G61E CARD8_uc002pii.3_Missense_Mutation_p.G166E|CARD8_uc010xzi.1_Missense_Mutation_p.G61E|CARD8_uc010els.2_Missense_Mutation_p.G99E|CARD8_uc010xzj.1_Missense_Mutation_p.G166E|CARD8_uc010xzk.1_Missense_Mutation_p.G85E|CARD8_uc002pif.3_Missense_Mutation_p.G61E|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Missense_Mutation_p.G116E|CARD8_uc010xzl.1_Missense_Mutation_p.G116E|CARD8_uc010xzm.1_Missense_Mutation_p.G166E NM_014959 NP_055774 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 61 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity 0 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) ATCCACATTTCCTTCAGGCCC 0.363 NaN 0 0 0 0.01441 0 52 55 ZNF578 147660 broad.mit.edu 37 19 52994576 52994576 + Splice_Site SNP G G C rs61191258 TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:52994576G>C uc002pzp.3 + 3 124 c.-120_splice c.e3-1 NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ATATTTTGTAGATATCTCTTC 0.169 NaN 0 0 0 0.009096 0 3 2 FCAR 2204 broad.mit.edu 37 19 55401022 55401023 + Missense_Mutation DNP CC CC TA TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:55401022_55401023CC>TA uc002qhr.1 + 5 854_855 c.657_658CC>TA c.(655-660)ATCCAC>ATTAAC p.H220N FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Missense_Mutation_p.H171N|FCAR_uc010esi.1_Missense_Mutation_p.H97N|FCAR_uc002qhu.1_Missense_Mutation_p.H124N|FCAR_uc002qhv.1_Missense_Mutation_p.H198N|FCAR_uc002qhw.1_Missense_Mutation_p.H208N|FCAR_uc002qhx.1_Missense_Mutation_p.H112N|FCAR_uc002qhy.1_Missense_Mutation_p.H186N|FCAR_uc002qhz.1_Nonsense_Mutation_p.P183*|FCAR_uc002qia.1_Missense_Mutation_p.H111N NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 220 Extracellular (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) CAGACTCCATCCACCAAGATTA 0.515 NaN 0 0 0 0.004672 0 52 606 C19orf51 352909 broad.mit.edu 37 19 55677318 55677318 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:55677318C>T uc002qji.1 - 3 170 c.136G>A c.(136-138)GAG>AAG p.E46K C19orf51_uc002qjj.1_Missense_Mutation_p.E93K|C19orf51_uc002qjk.1_5'UTR|C19orf51_uc002qjl.1_Missense_Mutation_p.E114K Q8N9W5 CS051_HUMAN RecName: Full=UPF0470 protein C19orf51; 46 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) ACATCTAGCTCGGGGTTGCTG 0.632 NaN OREG0025679 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.005524 0 34 36 ZNF667 63934 broad.mit.edu 37 19 56953734 56953734 + Missense_Mutation SNP A A T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:56953734A>T uc002qnd.2 - 5 792 c.630T>A c.(628-630)AAT>AAA p.N210K ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.N210K|ZNF667_uc010etm.2_Missense_Mutation_p.N153K NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 210 C2H2-type 3. 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) TTGTTCTTTGATTGAAGCTTT 0.378 NaN 0 0 0 0.007413 0 17 152 SLC27A5 10998 broad.mit.edu 37 19 59011880 59011880 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr19:59011880C>T uc002qtc.2 - 5 1486 c.1376G>A c.(1375-1377)CGA>CAA p.R459Q SLC27A5_uc002qtb.2_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 459 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 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;0.0168)|Lung(386;0.181) CACACTCACTCGGAGGAGGCA 0.607 NaN 0 0 0 0.000602 0 4 31 CCDC88A 55704 broad.mit.edu 37 2 55563882 55563882 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:55563882G>C uc002ryv.2 - 14 2433 c.1591C>G c.(1591-1593)CTA>GTA p.L531V CCDC88A_uc010yoz.1_Missense_Mutation_p.L531V|CCDC88A_uc010ypa.1_Missense_Mutation_p.L531V|CCDC88A_uc010ypb.1_Missense_Mutation_p.L433V|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.2_5'Flank NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 531 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TCCTTCATTAGATCCTTGCTT 0.299 NaN 0 0 0 0.010729 0 11 90 KCNIP3 30818 broad.mit.edu 37 2 96048223 96048223 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:96048223C>T uc002sup.2 + 7 769 c.654C>T c.(652-654)TTC>TTT p.F218F KCNIP3_uc002suq.2_Silent_p.F192F NM_013434 NP_038462 Q9Y2W7 CSEN_HUMAN Kv channel interacting protein 3 isoform 1 218 EF-hand 4. apoptosis|signal transduction|transcription, DNA-dependent endoplasmic reticulum|Golgi apparatus|nucleus|plasma membrane calcium ion binding|DNA binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity breast(2)|ovary(1) 3 READ - Rectum adenocarcinoma(193;0.13) TGGAGAGGTTCTTCGAGGTGA 0.657 NaN 0 0 0 0.012213 0 25 24 PSD4 23550 broad.mit.edu 37 2 113940993 113940993 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:113940993C>T uc002tjc.2 + 2 1143 c.960C>T c.(958-960)TTC>TTT p.F320F PSD4_uc002tjd.2_5'UTR|PSD4_uc002tje.2_Silent_p.F319F|PSD4_uc002tjf.2_5'Flank NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 320 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity ovary(2) 2 CCCCTCCATTCCCTGTGCCCA 0.607 NaN 0 0 0 0.000602 0 4 84 PLA2R1 22925 broad.mit.edu 37 2 160833209 160833209 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:160833209G>A uc002ube.1 - 16 2631 c.2424C>T c.(2422-2424)TTC>TTT p.F808F PLA2R1_uc010zcp.1_Silent_p.F808F|PLA2R1_uc002ubf.2_Silent_p.F808F NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 808 Extracellular (Potential). endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 ACTGGTACCAGAACGGAATCT 0.353 NaN 0 0 0 0.006214 0 6 92 PLA2R1 22925 broad.mit.edu 37 2 160840459 160840459 + Silent SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:160840459G>C uc002ube.1 - 13 2370 c.2163C>G c.(2161-2163)CTC>CTG p.L721L PLA2R1_uc010zcp.1_Silent_p.L721L|PLA2R1_uc002ubf.2_Silent_p.L721L NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 721 Extracellular (Potential).|C-type lectin 4. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 TTGAATGTAAGAGCTCATTCA 0.353 NaN 0 0 0 0.009096 0 4 63 SCN9A 6335 broad.mit.edu 37 2 167159806 167159806 + Missense_Mutation SNP T T G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:167159806T>G uc010fpl.2 - 7 1036 c.695A>C c.(694-696)AAG>ACG p.K232T SCN9A_uc002udr.1_Missense_Mutation_p.K103T|SCN9A_uc002uds.1_Missense_Mutation_p.K103T|SCN9A_uc002udt.1_Missense_Mutation_p.K103T NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 232 I. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) TACAATTGTCTTCAGGCCTGA 0.393 NaN 0 0 0 0.004289 0 32 34 NOSTRIN 115677 broad.mit.edu 37 2 169681198 169681198 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:169681198G>A uc002ueg.2 + 3 172 c.168G>A c.(166-168)CTG>CTA p.L56L NOSTRIN_uc002uef.2_Silent_p.L56L|NOSTRIN_uc002uei.2_5'UTR|NOSTRIN_uc010fpu.2_Intron|NOSTRIN_uc002ueh.2_5'UTR|NOSTRIN_uc002uej.2_5'UTR NM_001039724 NP_001034813 Q8IVI9 NOSTN_HUMAN nitric oxide synthase trafficker isoform 2 56 FCH. endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane protein binding 0 CAAGCAAGCTGAGCAAAGCAT 0.323 NaN 0 0 0 0.006214 0 8 88 DFNB59 494513 broad.mit.edu 37 2 179319144 179319144 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:179319144C>T uc002umi.3 + 3 653 c.297C>T c.(295-297)GAC>GAT p.D99D DFNB59_uc002umj.3_Silent_p.D99D NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 99 sensory perception of sound 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TTGTAAATGACGTTGGGATTA 0.338 NaN 0 0 0 0.00308 0 6 119 TTN 7273 broad.mit.edu 37 2 179438342 179438342 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:179438342C>G uc010zfg.1 - 275 65037 c.64813G>C c.(64813-64815)GTA>CTA p.V21605L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V15300L|TTN_uc010zfi.1_Missense_Mutation_p.V15233L|TTN_uc010zfj.1_Missense_Mutation_p.V15108L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22532 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) TCTGAGGCTACATTTGTCCAT 0.413 NaN 0 0 0 0.001855 0 11 398 TTN 7273 broad.mit.edu 37 2 179588019 179588019 + Missense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:179588019G>T uc010zfg.1 - 72 18207 c.17983C>A c.(17983-17985)CAT>AAT p.H5995N TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.H2656N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6922 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) TCTACAGAATGATCACTTAAT 0.388 NaN 1 0 9.16793e-09 0.00499 9.5738e-09 14 36 TTN 7273 broad.mit.edu 37 2 179612864 179612864 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:179612864G>C uc002unb.2 - 46 14487 c.14263C>G c.(14263-14265)CTA>GTA p.L4755V TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCATTTTCTAGAGGACAACTT 0.388 NaN 0 0 0 0.00333 0 17 28 MFSD6 54842 broad.mit.edu 37 2 191362263 191362263 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:191362263C>G uc002urz.2 + 7 2314 c.1990C>G c.(1990-1992)CGC>GGC p.R664G MFSD6_uc010zge.1_Missense_Mutation_p.R126G NM_017694 NP_060164 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 664 transmembrane transport integral to membrane ovary(2) 2 TGTCATGCCACGCATTGAGCC 0.502 NaN 0 0 0 0.003163 0 12 145 SDPR 8436 broad.mit.edu 37 2 192701216 192701216 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:192701216C>G uc002utb.2 - 2 1041 c.711G>C c.(709-711)AAG>AAC p.K237N NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein 237 Potential. caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TATCCACTTTCTTCAGGCTGG 0.463 NaN 0 0 0 0.006122 0 18 226 HSPD1 3329 broad.mit.edu 37 2 198358053 198358053 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:198358053C>G uc002uui.2 - 7 1001 c.864G>C c.(862-864)TTG>TTC p.L288F HSPD1_uc002uuj.2_Missense_Mutation_p.L286F|HSPD1_uc010zgx.1_Missense_Mutation_p.L279F|HSPD1_uc010fsm.2_Missense_Mutation_p.L99F|HSPD1_uc002uuk.2_Missense_Mutation_p.L288F NM_002156 NP_002147 P10809 CH60_HUMAN chaperonin 288 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding 0 Epithelial(96;0.225) ATTACCTATTCAAGACGAGTG 0.393 NaN 0 0 0 0.00499 0 13 184 NOP58 51602 broad.mit.edu 37 2 203164980 203164980 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:203164980C>G uc002uzb.2 + 13 1442 c.1292C>G c.(1291-1293)TCT>TGT p.S431C NM_015934 NP_057018 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein homolog 431 cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding 0 TACGATCCTTCTGGTGACTCC 0.333 NaN 0 0 0 0.010729 0 11 89 PLEKHM3 389072 broad.mit.edu 37 2 208795681 208795681 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:208795681G>A uc002vcl.2 - 5 2345 c.1855C>T c.(1855-1857)CGG>TGG p.R619W PLEKHM3_uc002vcm.2_Missense_Mutation_p.R619W NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 619 intracellular signal transduction metal ion binding ovary(1) 1 ACCGCTGCCCGGCAGCTGAAC 0.622 NaN 0 0 0 0.001168 0 5 99 ZNF142 7701 broad.mit.edu 37 2 219508869 219508869 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:219508869C>T uc002vin.2 - 8 2806 c.2370G>A c.(2368-2370)GAG>GAA p.E790E ZNF142_uc002vil.2_Silent_p.E751E|ZNF142_uc010fvt.2_Silent_p.E627E|ZNF142_uc002vim.2_Silent_p.E627E NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 790 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) AGGGTGCTGTCTCAGCAGGTG 0.532 NaN 0 0 0 0.008291 0 6 198 CYP27A1 1593 broad.mit.edu 37 2 219679356 219679356 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:219679356G>C uc002viz.3 + 8 1786 c.1352G>C c.(1351-1353)AGA>ACA p.R451T NM_000784 NP_000775 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, 451 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) CGCTGGCTGAGAAACAGCCAG 0.607 NaN 0 0 0 0.001984 0 6 60 ANKZF1 55139 broad.mit.edu 37 2 220100580 220100580 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr2:220100580C>T uc002vkg.2 + 12 2128 c.1954C>T c.(1954-1956)CTC>TTC p.L652F ANKZF1_uc002vkh.2_Missense_Mutation_p.L442F|ANKZF1_uc002vki.2_Missense_Mutation_p.L652F NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 652 Potential. intracellular zinc ion binding ovary(2) 2 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ATTTGCCGCCCTCAGTGACCG 0.622 NaN 0 0 0 0.01441 0 46 93 ZCCHC3 85364 broad.mit.edu 37 20 279194 279194 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr20:279194G>A uc002wdf.2 + 2 988 c.964G>A c.(964-966)GAG>AAG p.E322K ZCCHC3_uc002wdg.2_RNA NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 323 nucleic acid binding|zinc ion binding 0 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CCTGGGGGCCGAGAGGGGCTA 0.632 NaN 0 0 0 0.00874 0 43 64 ZCCHC3 85364 broad.mit.edu 37 20 279302 279302 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr20:279302G>A uc002wdf.2 + 2 1096 c.1072G>A c.(1072-1074)GAG>AAG p.E358K ZCCHC3_uc002wdg.2_RNA NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN zinc finger, CCHC domain containing 3 359 CCHC-type 2. nucleic acid binding|zinc ion binding 0 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) CAGGTGCGGGGAGGAGGGGCA 0.607 NaN 0 0 0 0.01441 0 54 77 CD93 22918 broad.mit.edu 37 20 23065965 23065965 + Missense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr20:23065965G>T uc002wsv.2 - 1 1013 c.865C>A c.(865-867)CCA>ACA p.P289T NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 289 EGF-like 1.|Extracellular (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CGGAATCCTGGTCGGCAGCCG 0.637 NaN 1 0 8.34094e-07 0.008871 8.57619e-07 18 258 MYLK2 85366 broad.mit.edu 37 20 30412081 30412081 + Missense_Mutation SNP T T A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr20:30412081T>A uc002wwq.2 + 6 1000 c.898T>A c.(898-900)TGT>AGT p.C300S MYLK2_uc002wws.2_5'Flank NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 300 Protein kinase. 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) TGGGGCAGTCTGTACCTGCAT 0.562 NaN 0 0 0 0.007291 0 23 41 EMILIN3 90187 broad.mit.edu 37 20 39990291 39990291 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr20:39990291G>C uc002xjy.1 - 4 2142 c.1918C>G c.(1918-1920)CAA>GAA p.Q640E NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 640 Potential. proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) CTGGAGCCTTGGCTGCTGACC 0.632 NaN 0 0 0 0.009096 0 3 34 LAMA5 3911 broad.mit.edu 37 20 60909254 60909254 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr20:60909254C>T uc002ycq.2 - 22 2794 c.2727G>A c.(2725-2727)ATG>ATA p.M909I NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 909 Domain IV 1 (domain IV B). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGACAGGTGCCATCTGCGCGT 0.672 NaN 0 0 0 0.007835 0 32 21 DIDO1 11083 broad.mit.edu 37 20 61512799 61512799 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr20:61512799C>T uc002ydr.1 - 16 4773 c.4509G>A c.(4507-4509)CAG>CAA p.Q1503Q DIDO1_uc002yds.1_Silent_p.Q1503Q NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1503 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) CGGCGGCCCTCTGCTGCCTGA 0.587 NaN 0 0 0 0.01441 0 67 142 KCNQ2 3785 broad.mit.edu 37 20 62038153 62038153 + Nonsense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr20:62038153G>C uc002yey.1 - 17 2640 c.2463C>G c.(2461-2463)TAC>TAG p.Y821* KCNQ2_uc002yez.1_Nonsense_Mutation_p.Y790*|KCNQ2_uc002yfa.1_Nonsense_Mutation_p.Y803*|KCNQ2_uc002yfb.1_Nonsense_Mutation_p.Y793* NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 821 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CCACGGCCGCGTAGCAGCTGT 0.642 NaN 0 0 0 0.010504 0 15 10 EEF1A2 1917 broad.mit.edu 37 20 62120282 62120282 + Missense_Mutation SNP T T G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr20:62120282T>G uc002yfd.1 - 6 1354 c.1253A>C c.(1252-1254)TAC>TCC p.Y418S EEF1A2_uc002yfe.1_Missense_Mutation_p.Y418S|EEF1A2_uc010gkg.1_Intron NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 418 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GAGAGGCGGGTACTGGGAGAA 0.667 NaN 0 0 0 0.010504 0 9 32 TPTE 7179 broad.mit.edu 37 21 10951278 10951278 + Missense_Mutation SNP A A G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr21:10951278A>G uc002yip.1 - 10 802 c.434T>C c.(433-435)GTA>GCA p.V145A TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V127A|TPTE_uc002yir.1_Missense_Mutation_p.V107A|TPTE_uc010gkv.1_Missense_Mutation_p.V7A NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 145 Helical; (Potential). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCTACAAATACTCGAAGAAG 0.244 NaN 0 0 0 0.001855 0 11 124 UBASH3A 53347 broad.mit.edu 37 21 43838515 43838515 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr21:43838515G>A uc002zbe.2 + 7 879 c.843G>A c.(841-843)CTG>CTA p.L281L UBASH3A_uc002zbf.2_Silent_p.L243L|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.L243L NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 281 SH3. cytosol|nucleus ovary(3) 3 TCTAGACCCTGAGAGCCCTAT 0.522 NaN 0 0 0 0.013537 0 11 199 UPB1 51733 broad.mit.edu 37 22 24906761 24906761 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr22:24906761G>C uc003aaf.2 + 4 530 c.409G>C c.(409-411)GAA>CAA p.E137Q UPB1_uc003aae.2_Missense_Mutation_p.E69Q|UPB1_uc011ajt.1_Missense_Mutation_p.E137Q NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN beta-ureidopropionase 137 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding ovary(2) 2 Colorectal(2;0.0339) TCCTTGGACAGAATTTGCTGA 0.502 NaN 0 0 0 0.014323 0 17 55 SYN3 8224 broad.mit.edu 37 22 33402582 33402582 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr22:33402582C>T uc003amx.2 - 1 225 c.66G>A c.(64-66)ATG>ATA p.M22I SYN3_uc003amy.2_Missense_Mutation_p.M22I|SYN3_uc003amz.2_Missense_Mutation_p.M22I NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa 22 A. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 GCAGGTCCGTCATATAGCCAT 0.607 NaN OREG0003521 type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.01441 0 74 19 MYH9 4627 broad.mit.edu 37 22 36695028 36695028 + Nonsense_Mutation SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr22:36695028C>A uc003apg.2 - 24 3268 c.3037G>T c.(3037-3039)GAG>TAG p.E1013* NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1013 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TTAGATTTCTCCTCCTCTTCT 0.527 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 1 0 3.61183e-13 0.01441 3.84176e-13 44 14 MYH9 4627 broad.mit.edu 37 22 36695058 36695058 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr22:36695058C>T uc003apg.2 - 24 3238 c.3007G>A c.(3007-3009)GAG>AAG p.E1003K NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1003 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GTGGTGAACTCAGCTATTCTG 0.498 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 0.01441 0 60 18 MYH9 4627 broad.mit.edu 37 22 36697638 36697638 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr22:36697638C>G uc003apg.2 - 21 2804 c.2573G>C c.(2572-2574)AGA>ACA p.R858T MYH9_uc003aph.1_Missense_Mutation_p.R722T NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 858 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 CTGCTTCTCTCTGACCTTCAC 0.617 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated OREG0026520 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.005443 0 26 11 MYH9 4627 broad.mit.edu 37 22 36700183 36700183 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr22:36700183C>G uc003apg.2 - 19 2479 c.2248G>C c.(2248-2250)GAC>CAC p.D750H MYH9_uc003aph.1_Missense_Mutation_p.D614H NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 750 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 AGATTGCTGTCGAGCTCCAGG 0.597 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 0.010771 0 34 7 GTPBP1 9567 broad.mit.edu 37 22 39104929 39104929 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr22:39104929G>A uc003awg.2 + 2 426 c.272G>A c.(271-273)GGA>GAA p.G91E NM_004286 NP_004277 O00178 GTPB1_HUMAN GTP binding protein 1 91 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity ovary(1) 1 Melanoma(58;0.04) GAGGGATGCGGAGAGACCATA 0.393 NaN 0 0 0 0.01441 0 41 16 EP300 2033 broad.mit.edu 37 22 41568628 41568628 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr22:41568628G>C uc003azl.3 + 28 4973 c.4578G>C c.(4576-4578)GAG>GAC p.E1526D NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1526 Poly-Glu. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 AGGAAGAAGAGAGAAAACGAG 0.388 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.004482 0 7 26 CYP2D6 1565 broad.mit.edu 37 22 42523483 42523483 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr22:42523483C>T uc003bce.2 - 7 1229 c.1139G>A c.(1138-1140)CGT>CAT p.R380H uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Missense_Mutation_p.R74H|CYP2D6_uc003bcf.2_Missense_Mutation_p.R329H NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, 380 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 TTCGATGTCACGGGATGTCAT 0.612 NaN 0 0 0 0.009096 0 3 32 IRAK2 3656 broad.mit.edu 37 3 10254974 10254974 + Silent SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:10254974C>G uc003bve.1 + 5 688 c.612C>G c.(610-612)GTC>GTG p.V204V NM_001570 NP_001561 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 204 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity lung(5)|breast(3) 8 CAGACGTGGTCCAGGCAACCG 0.527 NaN 0 0 0 0.003163 0 14 66 TATDN2 9797 broad.mit.edu 37 3 10301923 10301923 + Missense_Mutation SNP A A G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:10301923A>G uc003bvg.2 + 3 1098 c.517A>G c.(517-519)AGG>GGG p.R173G TATDN2_uc003bvf.2_Missense_Mutation_p.R173G|TATDN2_uc011atr.1_Missense_Mutation_p.R173G|TATDN2_uc011ats.1_RNA|TATDN2_uc011att.1_RNA NM_014760 NP_055575 Q93075 TATD2_HUMAN TatD DNase domain containing 2 173 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding pancreas(2) 2 GGTCCAGAAAAGGAAGAGGGA 0.473 NaN 0 0 0 0.01441 0 47 41 NUP210 23225 broad.mit.edu 37 3 13381432 13381432 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:13381432G>A uc003bxv.1 - 25 3476 c.3393C>T c.(3391-3393)CTC>CTT p.L1131L NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 1131 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) TCCCGATGGCGAGGCCCTGTA 0.493 NaN 0 0 0 0.01441 0 79 109 RFTN1 23180 broad.mit.edu 37 3 16475483 16475483 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:16475483G>A uc003cay.2 - 3 489 c.207C>T c.(205-207)CTC>CTT p.L69L RFTN1_uc010hes.2_Silent_p.L33L NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 69 plasma membrane ovary(3)|central_nervous_system(1) 4 ACAGCTCCAGGAGCTGGGCGG 0.652 NaN 0 0 0 0.00333 0 23 30 TRANK1 9881 broad.mit.edu 37 3 36874032 36874032 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:36874032C>G uc003cgj.2 - 12 5562 c.5260G>C c.(5260-5262)GAA>CAA p.E1754Q NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2304 Potential. DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 AGCAGCTTTTCAAACTCCTCC 0.522 NaN 0 0 0 0.003755 0 35 33 SCN11A 11280 broad.mit.edu 37 3 38988357 38988357 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:38988357G>A uc011ays.1 - 2 508 c.309C>T c.(307-309)TTC>TTT p.F103F NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 103 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) GCTTGGCACTGAAGCGGTAGA 0.363 NaN 0 0 0 0.009535 0 26 56 TGM4 7047 broad.mit.edu 37 3 44926861 44926861 + Missense_Mutation SNP G G A rs141141838 TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:44926861G>A uc003coc.3 + 2 137 c.64G>A c.(64-66)GTT>ATT p.V22I TGM4_uc003coa.2_Missense_Mutation_p.V22I|TGM4_uc003cob.2_RNA NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 22 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) GGACAACGCCGTTTCTCACCA 0.517 NaN 0 0 0 0.004007 0 12 32 ITIH4 3700 broad.mit.edu 37 3 52859944 52859944 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:52859944G>A uc003dfz.2 - 6 753 c.717C>T c.(715-717)ATC>ATT p.I239I ITIH4_uc011bel.1_5'UTR|ITIH4_uc003dfy.2_Silent_p.I103I|ITIH4_uc011bem.1_Silent_p.I239I|ITIH4_uc011ben.1_Silent_p.I239I NM_002218 NP_002209 Q14624 ITIH4_HUMAN inter-alpha (globulin) inhibitor H4 239 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) CATCATAGCGGATAATGAGGT 0.572 NaN 0 0 0 0.008291 0 8 81 EPHA3 2042 broad.mit.edu 37 3 89259649 89259649 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:89259649G>A uc003dqy.2 + 3 1018 c.793G>A c.(793-795)GAA>AAA p.E265K EPHA3_uc003dqx.1_Missense_Mutation_p.E265K|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 265 Extracellular (Potential).|Cys-rich. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TGGCTATGAAGAAAGAGGTTT 0.403 NaN TSP Lung(6;0.00050) 0 0 0 0.01441 0 112 147 RPL24 6152 broad.mit.edu 37 3 101404687 101404687 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:101404687C>G uc003dvh.1 - 3 210 c.167G>C c.(166-168)AGA>ACA p.R56T RPL24_uc003dvi.1_Missense_Mutation_p.R56T NM_000986 NP_000977 P83731 RL24_HUMAN ribosomal protein L24 56 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 GTGCTTCCTTCTGTAGAGGAC 0.458 NaN 0 0 0 0.01441 0 44 49 CBLB 868 broad.mit.edu 37 3 105377987 105377987 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:105377987C>T uc003dwc.2 - 19 3098 c.2776G>A c.(2776-2778)GAG>AAG p.E926K CBLB_uc003dwa.2_Missense_Mutation_p.E141K|CBLB_uc011bhi.1_Missense_Mutation_p.E904K NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 926 Interaction with SH3KBP1. 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 AATGCCGCCTCAGGCCCATGG 0.493 NaN Mis S AML 0 0 0 0.006214 0 9 115 KALRN 8997 broad.mit.edu 37 3 124048774 124048774 + Missense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:124048774G>T uc003ehg.2 + 8 1472 c.1345G>T c.(1345-1347)GAC>TAC p.D449Y KALRN_uc010hrv.1_Missense_Mutation_p.D449Y|KALRN_uc003ehf.1_Missense_Mutation_p.D449Y|KALRN_uc011bjy.1_Missense_Mutation_p.D449Y NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 449 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 CGAGATGCAAGACCTAGAGCT 0.572 NaN 1 0 0.00074312 0.006122 0.000756323 15 117 COPG 22820 broad.mit.edu 37 3 128973917 128973917 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:128973917C>T uc003els.2 + 7 589 c.489C>T c.(487-489)TCC>TCT p.S163S COPG_uc010htb.2_Silent_p.S69S NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 163 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 TCGTGTCTTCCTTGGTGTGTA 0.483 NaN 0 0 0 0.008871 0 17 33 ACAD11 84129 broad.mit.edu 37 3 132347277 132347277 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:132347277C>G uc003eov.3 - 8 1357 c.977G>C c.(976-978)AGA>ACA p.R326T ACAD11_uc011blr.1_5'Flank|ACAD11_uc003eoy.2_Missense_Mutation_p.R326T NM_032169 NP_115545 Q709F0 ACD11_HUMAN putative acyl-CoA dehydrogenase 326 peroxisome acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|transferase activity, transferring phosphorus-containing groups ovary(1) 1 CAGAAGATATCTGCTATATAC 0.348 NaN 0 0 0 0.004482 0 7 96 TOPBP1 11073 broad.mit.edu 37 3 133362970 133362970 + Missense_Mutation SNP T T C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:133362970T>C uc003eps.2 - 11 1874 c.1742A>G c.(1741-1743)AAA>AGA p.K581R NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 581 BRCT 4. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 GGACATGATTTTCCCAGCATT 0.403 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.006999 0 38 48 WDR49 151790 broad.mit.edu 37 3 167248966 167248966 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:167248966C>T uc003fev.1 - 9 1405 c.1099G>A c.(1099-1101)GAG>AAG p.E367K WDR49_uc003feu.1_Missense_Mutation_p.E192K|WDR49_uc011bpd.1_Missense_Mutation_p.E431K|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 367 WD 6. large_intestine(1)|ovary(1)|skin(1) 3 TTTTTGCCCTCAGTGTCAATC 0.408 NaN 0 0 0 0.001168 0 6 112 TNFSF10 8743 broad.mit.edu 37 3 172229441 172229441 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:172229441C>G uc003fid.2 - 3 374 c.279G>C c.(277-279)TTG>TTC p.L93F TNFSF10_uc003fie.2_Intron NM_003810 NP_003801 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, 93 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding skin(4)|lung(1) 5 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) CAGAGGTTCTCAAAATCATCT 0.313 NaN 0 0 0 0.007291 0 22 14 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). 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.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) 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) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.004878 0 30 50 CHRD 8646 broad.mit.edu 37 3 184104518 184104518 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:184104518C>T uc003fov.2 + 16 2417 c.2171C>T c.(2170-2172)CCG>CTG p.P724L CHRD_uc003fow.2_Missense_Mutation_p.P354L|CHRD_uc003fox.2_Missense_Mutation_p.P724L|CHRD_uc003foy.2_Missense_Mutation_p.P354L|CHRD_uc010hyc.2_Missense_Mutation_p.P314L|CHRD_uc011brr.1_Intron NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 724 VWFC 2. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AACTACGACCCGCTCTGCTCA 0.672 NaN 0 0 0 0.013537 0 12 16 DGKG 1608 broad.mit.edu 37 3 185985533 185985533 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:185985533C>T uc003fqa.2 - 13 1687 c.1150G>A c.(1150-1152)GAC>AAC p.D384N DGKG_uc003fqb.2_Missense_Mutation_p.D345N|DGKG_uc003fqc.2_Missense_Mutation_p.D384N|DGKG_uc011brx.1_Missense_Mutation_p.D345N NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 384 Phorbol-ester/DAG-type 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TCCCCACCGTCACACAACGTT 0.522 NaN 0 0 0 0.01441 0 56 101 CPN2 1370 broad.mit.edu 37 3 194062300 194062300 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr3:194062300C>T uc003fts.2 - 2 1222 c.1132G>A c.(1132-1134)GAG>AAG p.E378K NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 378 LRR 12. protein stabilization extracellular region enzyme regulator activity ovary(5) 5 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;4.65e-05) AAGATGCCCTCCGGAAGTGTG 0.602 NaN 0 0 0 0.01441 0 52 76 SORCS2 57537 broad.mit.edu 37 4 7398029 7398029 + Silent SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:7398029G>C uc003gkb.3 + 2 495 c.495G>C c.(493-495)CTG>CTC p.L165L SORCS2_uc011bwi.1_5'UTR NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN VPS10 domain receptor protein SORCS 2 precursor 165 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(1)|central_nervous_system(1) 2 TCTTGATCCTGACGAAGTACT 0.517 NaN 0 0 0 0.005443 0 18 35 TEC 7006 broad.mit.edu 37 4 48151605 48151605 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:48151605C>G uc003gxz.2 - 11 1066 c.975G>C c.(973-975)GAG>GAC p.E325D NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 325 SH2. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 ATTCAATAATCTCAGGAATGG 0.343 NaN 0 0 0 0.000602 0 3 88 KDR 3791 broad.mit.edu 37 4 55948135 55948135 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:55948135G>A uc003has.2 - 29 4138 c.3836C>T c.(3835-3837)TCT>TTT p.S1279F KDR_uc003hat.1_Missense_Mutation_p.S1279F NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 1279 Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AAAAGATGGAGATAATTTGGT 0.388 NaN Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 0 0 0 0.001855 0 9 102 NAAA 27163 broad.mit.edu 37 4 76862017 76862017 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:76862017G>A uc003hjb.2 - 1 150 c.86C>T c.(85-87)TCG>TTG p.S29L NAAA_uc003hja.2_Missense_Mutation_p.S29L|NAAA_uc003hjc.3_Missense_Mutation_p.S29L|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_5'Flank|NAAA_uc010iiz.1_Missense_Mutation_p.S29L NM_014435 NP_055250 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase isoform 1 29 lipid metabolic process lysosome hydrolase activity skin(1) 1 TGCTGGGGGCGAGGCGGCTGA 0.756 NaN 0 0 0 0.008291 0 10 6 HERC6 55008 broad.mit.edu 37 4 89361189 89361189 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:89361189G>C uc011cdi.1 + 21 2902 c.2719G>C c.(2719-2721)GAC>CAC p.D907H HERC6_uc011cdj.1_Missense_Mutation_p.D871H|HERC6_uc011cdk.1_RNA|HERC6_uc011cdl.1_RNA NM_017912 NP_060382 Q8IVU3 HERC6_HUMAN hect domain and RLD 6 isoform 1 907 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity lung(3)|ovary(1)|kidney(1) 5 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) TACTGATTATGACTGGAAACA 0.378 NaN 0 0 0 0.007291 0 22 31 FAM190A 401145 broad.mit.edu 37 4 91230198 91230198 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:91230198C>G uc003hsv.3 + 2 1103 c.763C>G c.(763-765)CAG>GAG p.Q255E FAM190A_uc003hsu.3_Missense_Mutation_p.Q255E|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Missense_Mutation_p.Q255E NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 255 large_intestine(1)|ovary(1) 2 TACCACAGCTCAGACACCTTC 0.433 NaN 0 0 0 0.01441 0 49 61 BDH2 56898 broad.mit.edu 37 4 104003301 104003301 + Missense_Mutation SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:104003301C>A uc003hwz.2 - 9 726 c.621G>T c.(619-621)AAG>AAT p.K207N BDH2_uc003hxa.2_RNA NM_020139 NP_064524 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 207 fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process cytoplasm 3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) ATCTTCCCGTCTTTTGTCTCT 0.458 NaN 1 0 2.17888e-05 0.006214 2.2289e-05 8 85 TET2 54790 broad.mit.edu 37 4 106157401 106157401 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:106157401G>C uc003hxk.2 + 3 2688 c.2302G>C c.(2302-2304)GAT>CAT p.D768H TET2_uc011cez.1_Missense_Mutation_p.D789H|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.D768H|TET2_uc003hxi.1_Missense_Mutation_p.D768H NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 768 Gln-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) AAGCAACAATGATCAGCAAAG 0.383 NaN Mis N|F MDS 0 0 0 0.01441 0 42 54 TET2 54790 broad.mit.edu 37 4 106158369 106158369 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:106158369G>C uc003hxk.2 + 3 3656 c.3270G>C c.(3268-3270)AAG>AAC p.K1090N TET2_uc011cez.1_Missense_Mutation_p.K1111N|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.K1090N|TET2_uc003hxi.1_Missense_Mutation_p.K1090N NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 1090 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.K1090fs*16(1) haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) CTTCAGAAAAGACACCAACCA 0.393 NaN Mis N|F MDS 0 0 0 0.003271 0 30 26 TET2 54790 broad.mit.edu 37 4 106158415 106158415 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:106158415G>C uc003hxk.2 + 3 3702 c.3316G>C c.(3316-3318)GAG>CAG p.E1106Q TET2_uc011cez.1_Missense_Mutation_p.E1127Q|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.E1106Q|TET2_uc003hxi.1_Missense_Mutation_p.E1106Q NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 1106 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TAATTTTATAGAGTCACCTTC 0.373 NaN Mis N|F MDS 0 0 0 0.00623 0 35 45 INPP4B 8821 broad.mit.edu 37 4 143045828 143045828 + Silent SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:143045828C>G uc003iix.3 - 20 2401 c.1806G>C c.(1804-1806)CTG>CTC p.L602L INPP4B_uc003iiw.3_Silent_p.L602L|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Silent_p.L417L|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Silent_p.L473L NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 602 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) GCACAAATGTCAGGGACTGCT 0.537 NaN 0 0 0 0.013726 0 32 48 MAP9 79884 broad.mit.edu 37 4 156289749 156289749 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:156289749G>C uc003ios.2 - 5 961 c.697C>G c.(697-699)CTT>GTT p.L233V MAP9_uc011cin.1_Missense_Mutation_p.L232V|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.L232V|MAP9_uc010iqb.1_Missense_Mutation_p.L160V NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 233 cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) TCAGGATCAAGGTTTTCAGAG 0.378 NaN 0 0 0 0.003954 0 22 35 ANXA10 11199 broad.mit.edu 37 4 169108570 169108570 + Silent SNP T T C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:169108570T>C uc003irm.2 + 12 1105 c.960T>C c.(958-960)GAT>GAC p.D320D ANXA10_uc003irn.2_Silent_p.D192D NM_007193 NP_009124 Q9UJ72 ANX10_HUMAN annexin A10 320 calcium ion binding|calcium-dependent phospholipid binding 0 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) GTGCTGGTGATGCTGAGGACT 0.338 NaN 0 0 0 0.00874 0 32 42 NEIL3 55247 broad.mit.edu 37 4 178274823 178274823 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:178274823G>A uc003iut.2 + 8 1518 c.1401G>A c.(1399-1401)CCG>CCA p.P467P NEIL3_uc010irs.2_3'UTR NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 467 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) ATAAAAAACCGAAAACAGCCC 0.353 NaN BER_DNA_glycosylases 0 0 0 0.009718 0 35 51 ODZ3 55714 broad.mit.edu 37 4 183713719 183713719 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:183713719G>A uc003ivd.1 + 25 5931 c.5894G>A c.(5893-5895)AGA>AAA p.R1965K NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1965 Extracellular (Potential).|YD 10. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GATAGCACAAGAGTCAGTTTT 0.418 NaN 0 0 0 0.01441 0 57 47 PLEKHG4B 153478 broad.mit.edu 37 5 169623 169623 + Silent SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:169623C>T uc003jak.2 + 12 2627 c.2577C>T c.(2575-2577)CAC>CAT p.H859H NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 859 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGAAGCTCCACGACTTCCACC 0.567 NaN 0 0 0 0.01441 0 62 163 CDH9 1007 broad.mit.edu 37 5 26988259 26988259 + Missense_Mutation SNP A A G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:26988259A>G uc003jgs.1 - 2 351 c.182T>C c.(181-183)TTC>TCC p.F61S CDH9_uc010iug.2_Missense_Mutation_p.F61S NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 61 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TTCCAATAAGAAGAACTGATT 0.383 NaN 0 0 0 0.007413 0 14 34 RNASEN 29102 broad.mit.edu 37 5 31526792 31526792 + Missense_Mutation SNP G G A rs149389256 by1000genomes TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:31526792G>A uc003jhg.2 - 4 607 c.248C>T c.(247-249)CCA>CTA p.P83L RNASEN_uc003jhh.2_Missense_Mutation_p.P83L|RNASEN_uc003jhi.2_Missense_Mutation_p.P83L|RNASEN_uc010iui.1_Missense_Mutation_p.P74L NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 83 Pro-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 AGGCATGGGTGGGGGGAAGGG 0.577 NaN 0 0 0 0.004672 0 3 50 PAIP1 10605 broad.mit.edu 37 5 43527531 43527531 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:43527531C>G uc003job.2 - 11 1634 c.1387G>C c.(1387-1389)GAA>CAA p.E463Q PAIP1_uc003joa.2_Missense_Mutation_p.E384Q|PAIP1_uc010ivp.2_Nonstop_Mutation_p.*352Y|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.E351Q NM_006451 NP_006442 Q9H074 PAIP1_HUMAN poly(A) binding protein interacting protein 1 463 PABPC1-interacting motif-1 (PAM1). mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation cytosol protein binding|RNA binding|translation activator activity ovary(1) 1 Lung NSC(6;2.07e-05) TAAGCTTCTTCTATCTCTGGG 0.333 NaN 0 0 0 0.006214 0 7 98 ISL1 3670 broad.mit.edu 37 5 50685565 50685565 + Silent SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:50685565G>C uc003jor.2 + 4 1112 c.564G>C c.(562-564)CTG>CTC p.L188L NM_002202 NP_002193 P61371 ISL1_HUMAN islet-1 188 Homeobox. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 Lung NSC(810;0.000845)|Breast(144;0.0411) GGACTGTGCTGAACGAGAAGC 0.667 NaN 0 0 0 0.004482 0 9 43 BDP1 55814 broad.mit.edu 37 5 70818248 70818248 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:70818248G>C uc003kbp.1 + 23 5387 c.5124G>C c.(5122-5124)CAG>CAC p.Q1708H BDP1_uc003kbo.2_Missense_Mutation_p.Q1708H|BDP1_uc003kbq.1_Intron NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1708 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) CAACAGATCAGAGCAAGGAAG 0.388 NaN 0 0 0 0.00499 0 15 98 BDP1 55814 broad.mit.edu 37 5 70820129 70820129 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:70820129G>C uc003kbp.1 + 25 6014 c.5751G>C c.(5749-5751)CAG>CAC p.Q1917H BDP1_uc003kbo.2_Missense_Mutation_p.Q1917H|BDP1_uc003kbq.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1917 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) TTTCTGCTCAGATTGAGGAAA 0.383 NaN 0 0 0 0.008291 0 8 51 MAN2A1 4124 broad.mit.edu 37 5 109026163 109026163 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:109026163C>G uc003kou.1 + 1 1008 c.45C>G c.(43-45)TTC>TTG p.F15L MAN2A1_uc003kot.1_RNA NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 15 Helical; Signal-anchor for type II membrane protein; (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) GTGCGATCTTCTGTGTGGTGA 0.582 NaN 0 0 0 0.006122 0 15 5 CAMK4 814 broad.mit.edu 37 5 110710590 110710590 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:110710590C>T uc011cvj.1 + 4 382 c.283C>T c.(283-285)CGC>TGC p.R95C CAMK4_uc003kpf.2_Missense_Mutation_p.R95C|CAMK4_uc010jbv.2_Intron NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 95 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) AGTTCTTCTTCGCCTCTCACA 0.393 NaN 0 0 0 0.006214 0 9 33 ACSL6 23305 broad.mit.edu 37 5 131307298 131307298 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:131307298G>A uc010jdo.1 - 14 1387 c.1304C>T c.(1303-1305)GCA>GTA p.A435V ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.A460V|ACSL6_uc003kvy.1_Missense_Mutation_p.A460V|ACSL6_uc003kwb.2_Missense_Mutation_p.A425V|ACSL6_uc003kvz.1_Missense_Mutation_p.A360V|ACSL6_uc003kwa.1_Missense_Mutation_p.A446V|ACSL6_uc003kvw.1_Missense_Mutation_p.A81V|ACSL6_uc010jdn.1_Missense_Mutation_p.A450V NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 435 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGCTGGGGCTGCTCCAGTAAC 0.522 NaN 0 0 0 0.00278 0 19 3 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139917031 139917031 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:139917031G>A uc003lfs.1 + 31 7209 c.7085G>A c.(7084-7086)CGA>CAA p.R2362Q ANKHD1_uc003lfr.2_Missense_Mutation_p.R2362Q|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R1118Q|ANKHD1_uc003lfw.2_Missense_Mutation_p.R1017Q|ANKHD1_uc010jfl.2_Missense_Mutation_p.R738Q|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.R516Q NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 2362 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTCAAGATCGAAAGATACCT 0.547 NaN 0 0 0 0.01441 0 44 27 PCDHB7 56129 broad.mit.edu 37 5 140553317 140553317 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:140553317C>T uc003lit.2 + 1 1075 c.901C>T c.(901-903)CTT>TTT p.L301F NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 301 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L301P(1) ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATCTGGCAGTCTTCATCTTAA 0.408 NaN 0 0 0 0.01441 0 73 12 PCDHGB3 56102 broad.mit.edu 37 5 140750463 140750463 + Nonsense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:140750463C>T uc003ljw.1 + 1 502 c.502C>T c.(502-504)CAG>TAG p.Q168* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Nonsense_Mutation_p.Q168* NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 168 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAATTCGCTGCAGCAGTACTA 0.512 NaN 0 0 0 0.001855 0 9 214 FAT2 2196 broad.mit.edu 37 5 150925437 150925437 + Nonsense_Mutation SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:150925437C>A uc003lue.3 - 9 5264 c.5251G>T c.(5251-5253)GAA>TAA p.E1751* GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1751 Cadherin 15.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGTCATTTTCATCAATTATG 0.408 NaN 1 0 5.35267e-07 0.007413 5.53201e-07 18 147 PANK3 79646 broad.mit.edu 37 5 167991021 167991021 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:167991021C>T uc003lzz.1 - 4 985 c.685G>A c.(685-687)GAA>AAA p.E229K NM_024594 NP_078870 Q9H999 PANK3_HUMAN pantothenate kinase 3 229 coenzyme A biosynthetic process cytoplasm|nucleus ATP binding|pantothenate kinase activity ovary(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188) TCAAAACTTTCACAGCCAGTC 0.383 NaN 0 0 0 0.013726 0 25 173 ZNF354A 6940 broad.mit.edu 37 5 178152427 178152427 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:178152427C>G uc003mjj.2 - 4 404 c.206G>C c.(205-207)GGA>GCA p.G69A NM_005649 NP_005640 O60765 Z354A_HUMAN zinc finger protein 354A 69 KRAB. regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(1) 3 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) GGGATCTTCTCCTTGCTGCAA 0.493 NaN 0 0 0 0.008361 0 21 133 RUFY1 80230 broad.mit.edu 37 5 178977723 178977723 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr5:178977723G>A uc003mka.1 + 1 153 c.153G>A c.(151-153)CGG>CGA p.R51R NM_025158 NP_079434 Q96T51 RUFY1_HUMAN RUN and FYVE domain-containing 1 isoform a 51 endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding ovary(4)|breast(1) 5 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGACCTGCGGAGCGCAACGA 0.652 NaN HNSCC(44;0.11) 0 0 0 0.008291 0 7 1 DTNBP1 84062 broad.mit.edu 37 6 15523430 15523430 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr6:15523430G>C uc003nbm.2 - 10 1003 c.832C>G c.(832-834)CAG>GAG p.Q278E DTNBP1_uc003nbl.2_Missense_Mutation_p.Q197E|DTNBP1_uc003nbn.2_RNA|DTNBP1_uc003nbo.2_RNA NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN dystrobrevin binding protein 1 isoform a 278 Dysbindin. actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding 0 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) ATCTCATTCTGACAGGTACTG 0.488 NaN Hermansky-Pudlak_syndrome 0 0 0 0.001168 0 4 185 HIST1H3H 8357 broad.mit.edu 37 6 27778040 27778040 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr6:27778040C>G uc003njm.2 + 1 199 c.189C>G c.(187-189)ATC>ATG p.I63M HIST1H2BL_uc003njl.2_5'Flank NM_003536 NP_003527 P68431 H31_HUMAN histone cluster 1, H3h 63 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 AGCTGCTGATCAGAAAGCTGC 0.617 NaN 0 0 0 0.001168 0 4 71 BAT2 7916 broad.mit.edu 37 6 31602332 31602332 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr6:31602332G>C uc003nvb.3 + 20 5182 c.4933G>C c.(4933-4935)GAA>CAA p.E1645Q BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.E1645Q NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1645 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 GGCTGGCACAGAAGTGAGTGA 0.582 NaN 0 0 0 0.00278 0 20 3 EHMT2 10919 broad.mit.edu 37 6 31855876 31855876 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr6:31855876G>C uc003nxz.1 - 13 1697 c.1687C>G c.(1687-1689)CCT>GCT p.P563A EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.P354A|EHMT2_uc011don.1_Missense_Mutation_p.P586A|EHMT2_uc003nya.1_Missense_Mutation_p.P529A NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 563 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 GGGGGTGCAGGAGCTGCAGTG 0.652 NaN 0 0 0 0.004672 0 3 22 PBX2 5089 broad.mit.edu 37 6 32156277 32156277 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr6:32156277G>A uc003oav.1 - 3 571 c.300C>T c.(298-300)CTC>CTT p.L100L PBX2_uc003oaw.2_Silent_p.L100L NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 100 transcription factor binding ovary(1) 1 TCCGAATGCTGAGGCCTAGCA 0.617 NaN 0 0 0 0.009535 0 25 5 REV3L 5980 broad.mit.edu 37 6 111697267 111697267 + Missense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr6:111697267G>T uc003puy.3 - 13 2614 c.2291C>A c.(2290-2292)GCT>GAT p.A764D REV3L_uc003pux.3_Missense_Mutation_p.A686D|REV3L_uc003puz.3_Missense_Mutation_p.A686D NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 764 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) ACTTTCATCAGCAGTGCTATT 0.368 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 1 0 1.14069e-49 0.01441 1.23961e-49 96 17 REV3L 5980 broad.mit.edu 37 6 111697396 111697396 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr6:111697396G>C uc003puy.3 - 13 2485 c.2162C>G c.(2161-2163)TCT>TGT p.S721C REV3L_uc003pux.3_Missense_Mutation_p.S643C|REV3L_uc003puz.3_Missense_Mutation_p.S643C NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 721 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) ATTTCCTTCAGAGGATACTTT 0.353 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.01441 0 50 7 REV3L 5980 broad.mit.edu 37 6 111697611 111697611 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr6:111697611G>A uc003puy.3 - 13 2270 c.1947C>T c.(1945-1947)ATC>ATT p.I649I REV3L_uc003pux.3_Silent_p.I571I|REV3L_uc003puz.3_Silent_p.I571I NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 649 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) ATACTGGGAGGATCTCTTTCT 0.313 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.00333 0 23 2 LAMA2 3908 broad.mit.edu 37 6 129777521 129777521 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr6:129777521G>A uc003qbn.2 + 47 6854 c.6749G>A c.(6748-6750)GGA>GAA p.G2250E LAMA2_uc003qbo.2_Missense_Mutation_p.G2250E NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2250 Laminin G-like 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCCCTGGATGGACCCAAAGCC 0.478 NaN 0 0 0 0.01441 0 104 26 CARD11 84433 broad.mit.edu 37 7 2978453 2978453 + Missense_Mutation SNP T T A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:2978453T>A uc003smv.2 - 7 1281 c.877A>T c.(877-879)AGC>TGC p.S293C NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 293 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) TCTGGCAGGCTGCGCTTCCCG 0.632 NaN Mis DLBCL 0 0 0 0.000602 0 4 84 ACTB 60 broad.mit.edu 37 7 5568878 5568878 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:5568878C>G uc003sos.3 - 2 313 c.277G>C c.(277-279)GAG>CAG p.E93Q ACTB_uc003sor.3_5'UTR|ACTB_uc003sot.3_Missense_Mutation_p.E93Q|ACTB_uc003soq.3_5'UTR|ACTB_uc010ksy.2_Intron NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 93 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) ACACGCAGCTCATTGTAGAAG 0.617 NaN 0 0 0 0.001168 0 5 94 DNAH11 8701 broad.mit.edu 37 7 21934388 21934388 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:21934388C>T uc003svc.2 + 79 12950 c.12919C>T c.(12919-12921)CGT>TGT p.R4307C NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4307 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TCGGGAAATACGTATATCACT 0.368 NaN Kartagener_syndrome 0 0 0 0.008291 0 11 10 C7orf30 115416 broad.mit.edu 37 7 23340550 23340550 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:23340550G>C uc003swd.1 + 2 381 c.349G>C c.(349-351)GAA>CAA p.E117Q NM_138446 NP_612455 Q96EH3 CG030_HUMAN hypothetical protein LOC115416 117 mitochondrion 0 GBM - Glioblastoma multiforme(13;0.154) GGTTCCTCCAGAAATGAGATA 0.408 NaN 0 0 0 0.01441 0 112 133 PDE1C 5137 broad.mit.edu 37 7 31890295 31890295 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:31890295C>T uc003tcm.1 - 8 1280 c.811G>A c.(811-813)GAG>AAG p.E271K PDE1C_uc003tcn.1_Missense_Mutation_p.E271K|PDE1C_uc003tco.1_Missense_Mutation_p.E331K|PDE1C_uc003tcr.2_Missense_Mutation_p.E271K|PDE1C_uc003tcs.2_Missense_Mutation_p.E271K NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 271 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) CCGGTATGCTCGTAGTCATGG 0.443 NaN 0 0 0 0.003163 0 11 156 EPDR1 54749 broad.mit.edu 37 7 37960519 37960519 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:37960519C>T uc003tfp.2 + 1 357 c.338C>T c.(337-339)TCG>TTG p.S113L EPDR1_uc003tfq.2_Missense_Mutation_p.S113L|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 GGCTTGCCCTCGGGCCGGGGA 0.736 NaN 0 0 0 0.013537 0 12 11 DDC 1644 broad.mit.edu 37 7 50531017 50531017 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:50531017G>A uc003tpf.3 - 14 1441 c.1355C>T c.(1354-1356)TCT>TTT p.S452F DDC_uc010kza.2_Missense_Mutation_p.S367F|DDC_uc003tpg.3_Missense_Mutation_p.S452F NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 452 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CACCGTGCGAGAACAGATGGC 0.537 NaN 0 0 0 0.003271 0 30 30 COBL 23242 broad.mit.edu 37 7 51095966 51095966 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:51095966C>T uc003tpr.3 - 10 3012 c.2827G>A c.(2827-2829)GAT>AAT p.D943N COBL_uc003tps.2_Missense_Mutation_p.D1000N|COBL_uc011kcl.1_Missense_Mutation_p.D943N|COBL_uc003tpp.3_Missense_Mutation_p.D729N|COBL_uc003tpq.3_Missense_Mutation_p.D884N|COBL_uc003tpo.3_Missense_Mutation_p.D485N NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 943 skin(3)|ovary(2) 5 Glioma(55;0.08) ACTGCCAAATCTTCCCCGTGG 0.562 NaN 0 0 0 0.000602 0 4 93 SEMA3D 223117 broad.mit.edu 37 7 84671602 84671602 + Splice_Site SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:84671602C>G uc003uic.2 - 8 902 c.862_splice c.e8-1 p.N288_splice SEMA3D_uc010led.2_Splice_Site_p.N288_splice|SEMA3D_uc003uib.2_5'Flank NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 CTACATCATTCTGACATGAAA 0.373 NaN 0 0 0 0.01441 0 86 97 ADAM22 53616 broad.mit.edu 37 7 87760697 87760697 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:87760697G>C uc003ujn.2 + 11 1018 c.939G>C c.(937-939)ATG>ATC p.M313I ADAM22_uc003ujj.1_Missense_Mutation_p.M313I|ADAM22_uc003ujk.1_Missense_Mutation_p.M313I|ADAM22_uc003ujl.1_Missense_Mutation_p.M313I|ADAM22_uc003ujm.2_Missense_Mutation_p.M313I|ADAM22_uc003ujo.2_Missense_Mutation_p.M313I|ADAM22_uc003ujp.1_Missense_Mutation_p.M365I NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 313 Peptidase M12B.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GTGAGTTTATGAAATACAGGA 0.363 NaN 0 0 0 0.000602 0 3 88 ANKIB1 54467 broad.mit.edu 37 7 91972349 91972349 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:91972349G>C uc003ulw.2 + 6 1175 c.799G>C c.(799-801)GAG>CAG p.E267Q NM_019004 NP_061877 Q9P2G1 AKIB1_HUMAN ankyrin repeat and IBR domain containing 1 267 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) CTGGGACAGGGAGAAATTACT 0.383 NaN 0 0 0 0.008291 0 10 155 MET 4233 broad.mit.edu 37 7 116398529 116398529 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:116398529C>G uc003vij.2 + 9 2306 c.2119C>G c.(2119-2121)CTT>GTT p.L707V MET_uc010lkh.2_Missense_Mutation_p.L707V|MET_uc011kng.1_Missense_Mutation_p.L707V|MET_uc011knh.1_Missense_Mutation_p.L707V|MET_uc011kni.1_Missense_Mutation_p.L707V|MET_uc011knj.1_Missense_Mutation_p.L277V NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 707 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) AAACAGTATTCTTGAATGTTA 0.328 NaN Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 0 0 0 0.009096 0 4 111 MET 4233 broad.mit.edu 37 7 116398545 116398545 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:116398545C>G uc003vij.2 + 9 2322 c.2135C>G c.(2134-2136)CCA>CGA p.P712R MET_uc010lkh.2_Missense_Mutation_p.P712R|MET_uc011kng.1_Missense_Mutation_p.P712R|MET_uc011knh.1_Missense_Mutation_p.P712R|MET_uc011kni.1_Missense_Mutation_p.P712R|MET_uc011knj.1_Missense_Mutation_p.P282R NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 712 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) TGTTATACCCCAGCCCAAACC 0.338 NaN Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 0 0 0 0.001168 0 4 123 C7orf58 79974 broad.mit.edu 37 7 120906763 120906763 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:120906763C>T uc003vjq.3 + 20 2981 c.2534C>T c.(2533-2535)TCA>TTA p.S845L NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 845 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AATTTCAGATCACGTCCCCTA 0.403 NaN 0 0 0 0.001984 0 5 87 AKR1B10 57016 broad.mit.edu 37 7 134216707 134216707 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:134216707G>C uc003vrr.2 + 3 602 c.282G>C c.(280-282)GAG>GAC p.E94D NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 94 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 AAGCCTTTGAGAAGACCCTCA 0.468 NaN 0 0 0 0.004482 0 8 136 CUL1 8454 broad.mit.edu 37 7 148484180 148484180 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:148484180G>A uc010lpg.2 + 13 1973 c.1447G>A c.(1447-1449)GAT>AAT p.D483N CUL1_uc003wey.2_Missense_Mutation_p.D483N|CUL1_uc003wez.2_Missense_Mutation_p.D373N|CUL1_uc003wfa.2_Missense_Mutation_p.D144N NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 483 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TGCAAGTGACGATGCCGAAGC 0.413 NaN 0 0 0 0.01441 0 47 41 KCNH2 3757 broad.mit.edu 37 7 150649632 150649632 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:150649632C>T uc003wic.2 - 6 1451 c.1438G>A c.(1438-1440)GAG>AAG p.E480K KCNH2_uc003wib.2_Missense_Mutation_p.E140K|KCNH2_uc011kux.1_Missense_Mutation_p.E384K|KCNH2_uc003wid.2_Missense_Mutation_p.E140K|KCNH2_uc003wie.2_Missense_Mutation_p.E480K NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 480 Cytoplasmic (Potential). 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.E480E(1) skin(3)|ovary(1) 4 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) ACCACCTCCTCGTTGGCATTG 0.597 NaN 0 0 0 0.004482 0 7 121 GALNTL5 168391 broad.mit.edu 37 7 151699831 151699831 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:151699831G>A uc003wkp.2 + 6 914 c.691G>A c.(691-693)GAG>AAG p.E231K GALNTL5_uc003wkq.2_5'UTR|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.E120K NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 231 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) CAGCCACTGTGAGGTGAACAG 0.502 NaN 0 0 0 0.00623 0 36 39 MLL3 58508 broad.mit.edu 37 7 151949650 151949650 + Missense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr7:151949650G>T uc003wla.2 - 10 1669 c.1450C>A c.(1450-1452)CAT>AAT p.H484N NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 484 DHHC-type.|PHD-type 3. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATATTACAATGAAGCATGTCT 0.368 NaN N medulloblastoma 1 0 6.02846e-25 0.003271 6.44643e-25 28 33 DUSP26 78986 broad.mit.edu 37 8 33454844 33454844 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr8:33454844C>T uc003xjp.2 - 2 523 c.190G>A c.(190-192)GAG>AAG p.E64K DUSP26_uc003xjq.2_Missense_Mutation_p.E64K NM_024025 NP_076930 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 64 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) GGCCAGACCTCGTCGGCATGG 0.557 NaN 0 0 0 0.001855 0 12 2 PRKDC 5591 broad.mit.edu 37 8 48761858 48761858 + Missense_Mutation SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr8:48761858C>A uc003xqi.2 - 55 7194 c.7137G>T c.(7135-7137)ATG>ATT p.M2379I PRKDC_uc003xqj.2_Missense_Mutation_p.M2379I|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2379 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) ACACAGCATTCATGAACCTGG 0.542 NaN NHEJ 1 0 1.15088e-07 0.004007 1.19251e-07 14 132 NSMAF 8439 broad.mit.edu 37 8 59522183 59522183 + Nonsense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr8:59522183G>A uc003xtt.2 - 10 881 c.667C>T c.(667-669)CAG>TAG p.Q223* NSMAF_uc011lee.1_Nonsense_Mutation_p.Q254*|NSMAF_uc003xtu.2_Nonsense_Mutation_p.Q223* NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 223 GRAM. ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) TTGAGGGGCTGAAAATACAGG 0.532 NaN 0 0 0 0.004289 0 31 37 KCNB2 9312 broad.mit.edu 37 8 73849046 73849046 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr8:73849046C>G uc003xzb.2 + 3 2044 c.1456C>G c.(1456-1458)CAC>GAC p.H486D NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 486 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) CGACGATAATCACCTGTCGCC 0.512 NaN 0 0 0 0.004007 0 16 163 PI15 51050 broad.mit.edu 37 8 75761397 75761397 + Missense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr8:75761397G>T uc003yal.2 + 6 865 c.686G>T c.(685-687)TGT>TTT p.C229F uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.C229F NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 229 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) GGGGTACCATGTTCATCTTGT 0.393 NaN 1 0 4.4782e-45 0.01441 4.8273e-45 78 100 MMP16 4325 broad.mit.edu 37 8 89180039 89180039 + Missense_Mutation SNP A A T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr8:89180039A>T uc003yeb.3 - 4 850 c.568T>A c.(568-570)TCT>ACT p.S190T MMP16_uc003yec.2_Missense_Mutation_p.S190T NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 190 Extracellular (Potential). 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 TGGAAACCAGATGCAAAAATA 0.438 NaN 0 0 0 0.006999 0 37 36 UBR5 51366 broad.mit.edu 37 8 103358508 103358508 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr8:103358508C>T uc003ykr.1 - 7 725 c.692G>A c.(691-693)GGA>GAA p.G231E UBR5_uc003yks.1_Missense_Mutation_p.G231E NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 231 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCCATCATCTCCATCTTCATC 0.433 NaN 0 0 0 0.01441 0 84 197 UBR5 51366 broad.mit.edu 37 8 103358578 103358578 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr8:103358578C>T uc003ykr.1 - 7 655 c.622G>A c.(622-624)GAA>AAA p.E208K UBR5_uc003yks.1_Missense_Mutation_p.E208K NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 208 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CTCTGAAGTTCTCGAATAATG 0.353 NaN 0 0 0 0.01441 0 46 90 UBR5 51366 broad.mit.edu 37 8 103373849 103373849 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr8:103373849C>T uc003ykr.1 - 2 101 c.68G>A c.(67-69)CGA>CAA p.R23Q UBR5_uc003yks.1_Missense_Mutation_p.R23Q NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 23 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AGAAACTTCTCGTAACCTTTA 0.269 NaN 0 0 0 0.005443 0 24 40 DPYS 1807 broad.mit.edu 37 8 105436556 105436556 + Missense_Mutation SNP A A C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr8:105436556A>C uc003yly.3 - 7 1283 c.1154T>G c.(1153-1155)ATT>AGT p.I385S NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 385 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GAGATTAAAAATTTTGGCTGC 0.353 NaN 0 0 0 0.010818 0 30 42 LRP12 29967 broad.mit.edu 37 8 105509596 105509596 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr8:105509596C>T uc003yma.2 - 5 1279 c.1184G>A c.(1183-1185)TGT>TAT p.C395Y LRP12_uc003ymb.2_Missense_Mutation_p.C376Y|LRP12_uc003ylz.2_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 395 Extracellular (Potential).|LDL-receptor class A 3. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) ATACCCATCACAACGCTGCTG 0.463 NaN 0 0 0 0.006214 0 8 118 DOCK8 81704 broad.mit.edu 37 9 434934 434934 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:434934G>C uc003zgf.2 + 39 5150 c.5038G>C c.(5038-5040)GAG>CAG p.E1680Q DOCK8_uc010mgu.2_Missense_Mutation_p.E982Q|DOCK8_uc010mgv.2_Missense_Mutation_p.E1580Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E1138Q NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1680 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GAGCATGCTGGAGGACCACAG 0.488 NaN 0 0 0 0.007413 0 14 46 DMRT1 1761 broad.mit.edu 37 9 841870 841870 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:841870C>G uc003zgv.2 + 1 181 c.32C>G c.(31-33)TCT>TGT p.S11C DMRT1_uc003zgu.1_Missense_Mutation_p.S11C NM_021951 NP_068770 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 11 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) AGCAAGCCCTCTACACCGTCG 0.692 NaN 0 0 0 0.004482 0 7 15 PDCD1LG2 80380 broad.mit.edu 37 9 5534978 5534978 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:5534978G>A uc003zjg.3 + 3 562 c.289G>A c.(289-291)GAA>AAA p.E97K C9orf46_uc003zjd.2_Intron|PDCD1LG2_uc011lmc.1_Missense_Mutation_p.E97K|PDCD1LG2_uc011lmd.1_Missense_Mutation_p.E97K|PDCD1LG2_uc010mhp.1_Missense_Mutation_p.E97K|PDCD1LG2_uc010mho.1_Missense_Mutation_p.E97K NM_025239 NP_079515 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 precursor 97 Ig-like V-type.|Extracellular (Potential). immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity 0 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) AGTGAGGGACGAAGGACAGTA 0.507 NaN 0 0 0 0.00632 0 26 38 PTPRD 5789 broad.mit.edu 37 9 8499822 8499822 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:8499822C>T uc003zkk.2 - 24 2858 c.2147G>A c.(2146-2148)CGC>CAC p.R716H PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.R716H|PTPRD_uc003zkm.2_Missense_Mutation_p.R703H|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 716 Fibronectin type-III 5.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTCGACTTTGCGAGGAGGACC 0.448 NaN TSP Lung(15;0.13) 0 0 0 0.004878 0 30 51 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:20414340G>A uc003zoe.2 - 5 763 c.504C>T c.(502-504)AGC>AGT p.S168S MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.A130V NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.144 NaN T MLL ALL 0 0 0 0.004672 0 3 20 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:20414343A>G uc003zoe.2 - 5 760 c.501T>C c.(499-501)AGT>AGC p.S167S MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.2_5'UTR|MLLT3_uc011lng.1_Missense_Mutation_p.V129A NM_004529 NP_004520 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.139 NaN T MLL ALL 0 0 0 0.004672 0 3 18 RUSC2 9853 broad.mit.edu 37 9 35555321 35555321 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:35555321G>A uc003zww.2 + 3 2534 c.2279G>A c.(2278-2280)AGA>AAA p.R760K RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R760K NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 760 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) GCCACTGGCAGAGGTGCCAGG 0.667 NaN 0 0 0 0.01441 0 56 59 RUSC2 9853 broad.mit.edu 37 9 35555344 35555344 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:35555344G>A uc003zww.2 + 3 2557 c.2302G>A c.(2302-2304)GAG>AAG p.E768K RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E768K NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 768 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AGCTGGGTCTGAGCCAGAGAC 0.657 NaN 0 0 0 0.01441 0 87 88 RUSC2 9853 broad.mit.edu 37 9 35560379 35560379 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:35560379G>A uc003zww.2 + 10 3997 c.3742G>A c.(3742-3744)GAA>AAA p.E1248K RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E1248K NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1248 Poly-Glu. cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) agaggagacagaagaggtggc 0.517 NaN 0 0 0 0.013537 0 8 18 RUSC2 9853 broad.mit.edu 37 9 35560391 35560391 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:35560391G>A uc003zww.2 + 10 4009 c.3754G>A c.(3754-3756)GAG>AAG p.E1252K RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.E1252K NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1252 cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) agaggtggcagaggcagCCGG 0.502 NaN 0 0 0 0.008871 0 15 23 SLC28A3 64078 broad.mit.edu 37 9 86900922 86900922 + Missense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:86900922G>T uc010mpz.2 - 13 1510 c.1385C>A c.(1384-1386)TCT>TAT p.S462Y SLC28A3_uc011lsy.1_Missense_Mutation_p.S393Y|SLC28A3_uc004anu.1_Missense_Mutation_p.S462Y NM_022127 NP_071410 Q9HAS3 S28A3_HUMAN concentrative Na+-nucleoside cotransporter 462 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|plasma membrane nucleoside binding upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1) 4 ATTCATAAAAGACAGCAGGGC 0.498 NaN 1 0 5.35356e-11 0.00278 5.63458e-11 18 31 DAPK1 1612 broad.mit.edu 37 9 90296407 90296407 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:90296407G>A uc004apc.2 + 20 2228 c.2090G>A c.(2089-2091)GGA>GAA p.G697E DAPK1_uc004apd.2_Missense_Mutation_p.G697E|DAPK1_uc011ltg.1_Missense_Mutation_p.G697E|DAPK1_uc011lth.1_Missense_Mutation_p.G434E|DAPK1_uc004apf.1_Missense_Mutation_p.G251E NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 697 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 GGCCACTCGGGATCCGGGAAA 0.552 NaN Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 0 0 0 0.01441 0 77 75 IPPK 64768 broad.mit.edu 37 9 95418779 95418779 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:95418779C>T uc004asl.1 - 3 461 c.184G>A c.(184-186)GTC>ATC p.V62I NM_022755 NP_073592 Q9H8X2 IPPK_HUMAN inositol 1,3,4,5,6-pentakisphosphate 2-kinase 62 inositol or phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol pentakisphosphate 2-kinase activity ovary(2) 2 TCCTTCATGACATTTTTCCCA 0.433 NaN 0 0 0 0.01441 0 55 79 SMC2 10592 broad.mit.edu 37 9 106882409 106882409 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:106882409G>A uc004bbv.2 + 16 2386 c.2098G>A c.(2098-2100)GAG>AAG p.E700K SMC2_uc004bbu.1_Missense_Mutation_p.E700K|SMC2_uc004bbw.2_Missense_Mutation_p.E700K|SMC2_uc011lvl.1_Missense_Mutation_p.E700K|SMC2_uc004bbx.2_Missense_Mutation_p.E700K NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 700 Potential. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 GGCTCTAGAAGAGGAATTAGC 0.353 NaN 0 0 0 0.01441 0 80 95 OR13C2 392376 broad.mit.edu 37 9 107367631 107367631 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:107367631G>A uc011lvq.1 - 1 278 c.278C>T c.(277-279)TCC>TTC p.S93F NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GCCAGAAAGGGAAATGGTCTT 0.517 NaN 0 0 0 0.01441 0 51 59 SVEP1 79987 broad.mit.edu 37 9 113341490 113341490 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:113341490C>G uc010mtz.2 - 1 671 c.334G>C c.(334-336)GAC>CAC p.D112H SVEP1_uc010mua.1_Missense_Mutation_p.D112H|SVEP1_uc004beu.2_Missense_Mutation_p.D112H|uc004bew.1_5'Flank NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 112 VWFA. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 ACGGGGAAGTCGGACAGCAGC 0.642 NaN 0 0 0 0.004672 0 2 1 TLR4 7099 broad.mit.edu 37 9 120476771 120476771 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:120476771C>G uc004bjz.2 + 3 2656 c.2365C>G c.(2365-2367)CTC>GTC p.L789V TLR4_uc004bka.2_Missense_Mutation_p.L749V|TLR4_uc004bkb.2_Missense_Mutation_p.L589V NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 789 Cytoplasmic (Potential).|TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 GTACCGCCTTCTCAGCAGGAA 0.552 NaN 0 0 0 0.01441 0 50 55 PBX3 5090 broad.mit.edu 37 9 128677988 128677988 + Nonsense_Mutation SNP G G T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:128677988G>T uc004bqb.2 + 3 414 c.298G>T c.(298-300)GAG>TAG p.E100* PBX3_uc004bqc.2_Intron|PBX3_uc004bqd.2_Intron|PBX3_uc011lzw.1_Nonsense_Mutation_p.E25*|PBX3_uc011lzx.1_Nonsense_Mutation_p.E11*|PBX3_uc004bqe.2_5'UTR NM_006195 NP_006186 P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 isoform 1 100 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 AGGAGCCCAGGAGGAGGACCC 0.413 NaN 1 0 0.000673444 0.008291 0.000687153 11 12 ZBTB34 403341 broad.mit.edu 37 9 129642198 129642198 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:129642198C>G uc004bqm.3 + 2 605 c.508C>G c.(508-510)CAG>GAG p.Q170E NM_001099270 NP_001092740 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATATTGCTCTCAGGGACGGCA 0.592 NaN 0 0 0 0.01441 0 40 46 ZBTB34 403341 broad.mit.edu 37 9 129642324 129642324 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:129642324G>C uc004bqm.3 + 2 731 c.634G>C c.(634-636)GAG>CAG p.E212Q NM_001099270 NP_001092740 Q8NCN2 ZBT34_HUMAN zinc finger and BTB domain containing 34 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTCTGAATATGAGATTCAGAT 0.577 NaN 0 0 0 0.001984 0 6 45 FAM129B 64855 broad.mit.edu 37 9 130280190 130280190 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:130280190G>C uc004brh.2 - 6 822 c.620C>G c.(619-621)CCT>CGT p.P207R FAM129B_uc004bri.2_Missense_Mutation_p.P194R|FAM129B_uc004brj.3_Missense_Mutation_p.P207R NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN hypothetical protein LOC64855 isoform 1 207 protein binding 0 TGTGAACGCAGGGCCCTCTAC 0.612 NaN 0 0 0 0.00278 0 21 17 GOLGA2 2801 broad.mit.edu 37 9 131023520 131023520 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:131023520C>T uc011maw.1 - 16 1283 c.1270G>A c.(1270-1272)GAG>AAG p.E424K GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_5'Flank|GOLGA2_uc004bul.1_Missense_Mutation_p.E325K|uc004bun.2_5'Flank NM_004486 NP_004477 Q08379 GOGA2_HUMAN Golgi autoantigen, golgin subfamily a, 2 424 Potential. Golgi cisterna membrane protein binding ovary(1) 1 CATTCCTTCTCCTCTCTCAAT 0.607 NaN 0 0 0 0.007413 0 16 160 SPTAN1 6709 broad.mit.edu 37 9 131346753 131346753 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:131346753G>C uc004bvl.3 + 17 2499 c.2386G>C c.(2386-2388)GAG>CAG p.E796Q SPTAN1_uc011mbg.1_Missense_Mutation_p.E796Q|SPTAN1_uc011mbh.1_Missense_Mutation_p.E808Q|SPTAN1_uc004bvm.3_Missense_Mutation_p.E796Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.E796Q NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 796 Spectrin 9. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGTTGAGGATGAGGAGACGTG 0.562 NaN 0 0 0 0.00245 0 13 26 SPTAN1 6709 broad.mit.edu 37 9 131348070 131348070 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:131348070G>A uc004bvl.3 + 19 2717 c.2604G>A c.(2602-2604)CTG>CTA p.L868L SPTAN1_uc011mbg.1_Silent_p.L868L|SPTAN1_uc011mbh.1_Silent_p.L880L|SPTAN1_uc004bvm.3_Silent_p.L868L|SPTAN1_uc004bvn.3_Silent_p.L868L NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 868 Spectrin 9. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TTCACGAGCTGAACCAAAAGT 0.527 NaN 0 0 0 0.009535 0 28 61 SPTAN1 6709 broad.mit.edu 37 9 131348091 131348091 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:131348091G>A uc004bvl.3 + 19 2738 c.2625G>A c.(2623-2625)CTG>CTA p.L875L SPTAN1_uc011mbg.1_Silent_p.L875L|SPTAN1_uc011mbh.1_Silent_p.L887L|SPTAN1_uc004bvm.3_Silent_p.L875L|SPTAN1_uc004bvn.3_Silent_p.L875L NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 875 Spectrin 9. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 GGGAGGCACTGAAAGCCAAAG 0.537 NaN 0 0 0 0.004289 0 31 51 BRD3 8019 broad.mit.edu 37 9 136917464 136917464 + Silent SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:136917464G>A uc004cew.2 - 3 503 c.315C>T c.(313-315)TTC>TTT p.F105F BRD3_uc004cex.2_Silent_p.F105F NM_007371 NP_031397 Q15059 BRD3_HUMAN bromodomain containing protein 3 105 Bromo 1. nucleus protein binding BRD3/C15orf55(3) stomach(4)|midline_organs(3)|kidney(1) 8 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) ACATGGTGTTGAAGTCCTGCA 0.398 NaN T NUT|C15orf55 lethal midline carcinoma of young people 0 0 0 0.000602 0 5 52 UAP1L1 91373 broad.mit.edu 37 9 139973451 139973451 + Missense_Mutation SNP G G A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:139973451G>A uc010ncb.2 + 4 726 c.694G>A c.(694-696)GCG>ACG p.A232T UAP1L1_uc004cla.3_Missense_Mutation_p.A109T NM_207309 NP_997192 Q3KQV9 UAP1L_HUMAN UDP-N-acteylglucosamine pyrophosphorylase 1-like 232 nucleotidyltransferase activity ovary(1) 1 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486) CCTCTACTGCGCGCTGGAGGA 0.652 NaN 0 0 0 0.01441 0 37 36 TUBB2C 10383 broad.mit.edu 37 9 140137804 140137804 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:140137804C>G uc004cmh.1 + 4 1236 c.1134C>G c.(1132-1134)TTC>TTG p.F378L TUBB2C_uc004cmg.1_Missense_Mutation_p.F232L NM_006088 NP_006079 P68371 TBB2C_HUMAN tubulin, beta, 2 378 '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) AGGAGCTGTTCAAGCGCATCT 0.597 NaN 0 0 0 0.01441 0 82 171 SHROOM2 357 broad.mit.edu 37 X 9863321 9863321 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:9863321C>T uc004csu.1 + 4 1463 c.1373C>T c.(1372-1374)CCT>CTT p.P458L NM_001649 NP_001640 Q13796 SHRM2_HUMAN apical protein of Xenopus-like 458 apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 Hepatocellular(5;0.000888) GACAGCCCTCCTCAGGTGAGG 0.677 NaN 0 0 0 0.001984 0 6 26 MID1 4281 broad.mit.edu 37 X 10427830 10427830 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:10427830C>G uc004cte.3 - 8 1494 c.1303G>C c.(1303-1305)GAT>CAT p.D435H MID1_uc004ctd.3_Missense_Mutation_p.D146H|MID1_uc004ctg.3_Missense_Mutation_p.D435H|MID1_uc004cth.3_Missense_Mutation_p.D397H|MID1_uc004ctk.3_Missense_Mutation_p.D435H|MID1_uc004cti.3_Missense_Mutation_p.D435H|MID1_uc004ctj.3_Missense_Mutation_p.D435H|MID1_uc011mie.1_RNA|MID1_uc004csz.3_Missense_Mutation_p.D107H|MID1_uc004cta.3_Missense_Mutation_p.D191H|MID1_uc004ctb.3_Missense_Mutation_p.D95H|MID1_uc004ctc.3_Missense_Mutation_p.D202H NM_033290 NP_150632 O15344 TRI18_HUMAN midline 1 435 Fibronectin type-III. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding ovary(2)|pancreas(1) 3 ATCCAGCTATCAGCCGAATTA 0.463 NaN 0 0 0 0.013537 0 9 144 FAM47C 442444 broad.mit.edu 37 X 37027200 37027200 + Silent SNP A A C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:37027200A>C uc004ddl.1 + 1 731 c.717A>C c.(715-717)CCA>CCC p.P239P NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 239 ovary(3) 3 TGGAGCCTCCAGAGACTGGAG 0.637 NaN 0 0 0 0.004672 0 3 71 HUWE1 10075 broad.mit.edu 37 X 53617425 53617425 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:53617425C>G uc004dsp.2 - 35 4532 c.4130G>C c.(4129-4131)AGA>ACA p.R1377T HUWE1_uc004dsn.2_Missense_Mutation_p.R202T NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 1377 UIM. 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 AGCAATTGCTCTCATCATCTG 0.443 NaN 0 0 0 0.01441 0 103 9 OTUD6A 139562 broad.mit.edu 37 X 69282408 69282408 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:69282408C>G uc004dxu.1 + 1 68 c.34C>G c.(34-36)CTG>GTG p.L12V NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 12 lung(1)|skin(1) 2 GCAGCGCATACTGCGCCGCCA 0.532 NaN 0 0 0 0.004672 0 3 10 BRWD3 254065 broad.mit.edu 37 X 79936980 79936980 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:79936980C>G uc004edt.2 - 40 4777 c.4514G>C c.(4513-4515)GGG>GCG p.G1505A BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.G1101A|BRWD3_uc004edp.2_Missense_Mutation_p.G1334A|BRWD3_uc004edq.2_Missense_Mutation_p.G1101A|BRWD3_uc010nmj.1_Missense_Mutation_p.G1101A|BRWD3_uc004edr.2_Missense_Mutation_p.G1175A|BRWD3_uc004eds.2_Missense_Mutation_p.G1101A|BRWD3_uc004edu.2_Missense_Mutation_p.G1175A|BRWD3_uc004edv.2_Missense_Mutation_p.G1101A|BRWD3_uc004edw.2_Missense_Mutation_p.G1101A|BRWD3_uc004edx.2_Missense_Mutation_p.G1101A|BRWD3_uc004edy.2_Missense_Mutation_p.G1101A|BRWD3_uc004edz.2_Missense_Mutation_p.G1175A|BRWD3_uc004eea.2_Missense_Mutation_p.G1175A|BRWD3_uc004eeb.2_Missense_Mutation_p.G1101A NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1505 ovary(4) 4 TAGTGAAAGCCCTTCAGCAGC 0.373 NaN 0 0 0 0.000602 0 5 33 PCDH19 57526 broad.mit.edu 37 X 99663097 99663097 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:99663097C>G uc010nmz.2 - 1 2175 c.499G>C c.(499-501)GAG>CAG p.E167Q PCDH19_uc004efw.3_Missense_Mutation_p.E167Q|PCDH19_uc004efx.3_Missense_Mutation_p.E167Q NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 167 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 GGCGTGAGCTCGTAAGTCTGC 0.637 NaN 0 0 0 0.005524 0 39 5 MORC4 79710 broad.mit.edu 37 X 106243186 106243186 + Missense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:106243186C>T uc004emu.3 - 1 257 c.14G>A c.(13-15)CGA>CAA p.R5Q MORC4_uc004emv.3_Missense_Mutation_p.R5Q|MORC4_uc004emw.3_5'UTR NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 5 ATP binding|zinc ion binding ovary(1) 1 gggggccccTCGGTACAGGAG 0.448 NaN 0 0 0 0.00308 0 6 0 BCORL1 63035 broad.mit.edu 37 X 129149373 129149373 + Silent SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:129149373C>G uc004evb.1 + 4 2739 c.2625C>G c.(2623-2625)CTC>CTG p.L875L BCORL1_uc010nrd.1_Silent_p.L777L NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 875 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TGCCATCTCTCAGCTCCAGCG 0.602 NaN 0 0 0 0.000602 0 5 30 BCORL1 63035 broad.mit.edu 37 X 129149590 129149590 + Nonsense_Mutation SNP C C T TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:129149590C>T uc004evb.1 + 4 2956 c.2842C>T c.(2842-2844)CAG>TAG p.Q948* BCORL1_uc010nrd.1_Nonsense_Mutation_p.Q850* NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 948 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TCGAATGAATCAGGGGCCTGA 0.567 NaN 0 0 0 0.006214 0 8 49 ENOX2 10495 broad.mit.edu 37 X 129790591 129790591 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:129790591C>G uc004evw.2 - 11 1598 c.1180G>C c.(1180-1182)GAA>CAA p.E394Q ENOX2_uc004evx.2_Missense_Mutation_p.E365Q|ENOX2_uc004evy.2_Missense_Mutation_p.E365Q|ENOX2_uc004evv.2_Missense_Mutation_p.E221Q NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 394 Potential. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 GTCATTTCTTCTATTTCATCA 0.269 NaN 0 0 0 0.01441 0 46 4 CNGA2 1260 broad.mit.edu 37 X 150911830 150911830 + Silent SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:150911830C>A uc004fey.1 + 7 1079 c.855C>A c.(853-855)ATC>ATA p.I285I NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 285 Helical; Name=H4; (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCTTGGTCATCATCCACTGGA 0.493 NaN 1 0 3.13773e-49 0.01441 3.40063e-49 111 22 F8 2157 broad.mit.edu 37 X 154227805 154227805 + Missense_Mutation SNP C C G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chrX:154227805C>G uc004fmt.2 - 2 385 c.214G>C c.(214-216)GAA>CAA p.E72Q F8_uc011mzx.1_Missense_Mutation_p.E37Q NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 72 Plastocyanin-like 1.|F5/8 type A 1. E -> K (in HEMA; moderate). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCCGTGAATTCTACAAACAGA 0.388 NaN 0 0 0 0.007291 0 23 91 SPEN 23013 broad.mit.edu 37 1 16262459 16262460 + Frame_Shift_Ins INS - - C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:16262459_16262460insC uc001axk.1 + 11 9928_9929 c.9724_9725insC c.(9724-9726)GCCfs p.A3242fs SPEN_uc010obp.1_Frame_Shift_Ins_p.A3201fs NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3242 Pro-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGCCAAAGCTgcccccaccccc 0.431 NaN NaN NaN NaN NaN NaN 8 59 --- --- INTS7 25896 broad.mit.edu 37 1 212115191 212115193 + In_Frame_Del DEL TGC TGC - TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr1:212115191_212115193delTGC uc001hiw.1 - 20 2967_2969 c.2862_2864delGCA c.(2860-2865)CAGCAA>CAA p.954_955QQ>Q INTS7_uc009xdb.1_In_Frame_Del_p.934_935QQ>Q|INTS7_uc001hix.1_In_Frame_Del_p.830_831QQ>Q|INTS7_uc001hiy.1_In_Frame_Del_p.940_941QQ>Q|INTS7_uc010pta.1_In_Frame_Del_p.905_906QQ>Q NM_015434 NP_056249 Q9NVH2 INT7_HUMAN integrator complex subunit 7 954_955 Gln-rich. snRNA processing integrator complex protein binding 0 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGCATTGCGTTGCTGCTGCTGCT 0.443 NaN NaN NaN NaN NaN NaN 9 353 --- --- CUBN 8029 broad.mit.edu 37 10 17145185 17145185 + Frame_Shift_Del DEL G G - TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr10:17145185delG uc001ioo.2 - 13 1521 c.1469delC c.(1468-1470)CCGfs p.P490fs NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 490 CUB 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACCAACATCCGGGCTCCTGTA 0.398 NaN NaN NaN NaN NaN NaN 45 73 --- --- TMEM126A 84233 broad.mit.edu 37 11 85366703 85366704 + Frame_Shift_Ins INS - - TA TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr11:85366703_85366704insTA uc001par.2 + 4 442_443 c.346_347insTA c.(346-348)CTAfs p.L116fs NM_032273 NP_115649 Q9H061 T126A_HUMAN transmembrane protein 126A 116 Helical; (Potential). integral to membrane|mitochondrion ovary(2) 2 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TATTGGTGGTCTATACCCTGTT 0.366 NaN NaN NaN NaN NaN NaN 84 231 --- --- BAZ2A 11176 broad.mit.edu 37 12 56999009 56999010 + Frame_Shift_Ins INS - - CA TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr12:56999009_56999010insCA uc001slq.1 - 14 2795_2796 c.2601_2602insTG c.(2599-2604)GTGCTGfs p.V867fs BAZ2A_uc001slp.1_Frame_Shift_Ins_p.V865fs|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Frame_Shift_Ins_p.V835fs NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 867_868 DDT. 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 TCAAAGCCCAGCACCTTGCCAA 0.574 NaN NaN NaN NaN NaN NaN 25 33 --- --- UNKL 64718 broad.mit.edu 37 16 1464642 1464643 + Frame_Shift_Ins INS - - G TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr16:1464642_1464643insG uc010bro.1 - 1 58_59 c.50_51insC c.(49-51)CCGfs p.P17fs UNKL_uc002clq.2_Frame_Shift_Ins_p.P17fs NM_001037125 NP_001032202 Q9H9P5 UNKL_HUMAN unkempt homolog (Drosophila)-like isoform 2 17 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding 0 Hepatocellular(780;0.0893) TCTCAGTCTGCGGGGGGGACCC 0.332 NaN NaN NaN NaN NaN NaN 2 4 --- --- ARFGAP3 26286 broad.mit.edu 37 22 43213780 43213780 + Frame_Shift_Del DEL T T - TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr22:43213780delT uc003bdd.2 - 10 1116 c.896delA c.(895-897)AATfs p.N299fs ARFGAP3_uc010gzf.2_Frame_Shift_Del_p.N255fs|ARFGAP3_uc011apu.1_Frame_Shift_Del_p.N227fs NM_014570 NP_055385 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating 299 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(1) 1 TGAGTCAACATTTTTTTTGCC 0.224 NaN NaN NaN NaN NaN NaN 7 184 --- --- UCP1 7350 broad.mit.edu 37 4 141489036 141489036 + Frame_Shift_Del DEL G G - rs17848358 TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr4:141489036delG uc011chj.1 - 2 298 c.222delC c.(220-222)CTCfs p.L74fs UCP1_uc011chk.1_Frame_Shift_Del_p.L74fs NM_021833 NP_068605 P25874 UCP1_HUMAN uncoupling protein 1 74 Solcar 1.|Helical; Name=2; (Potential). brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding ovary(1) 1 all_hematologic(180;0.162) GCCCGCTGTAGAGTTTCATCC 0.567 NaN NaN NaN NaN NaN NaN 71 90 --- --- CDKN1A 1026 broad.mit.edu 37 6 36652112 36652113 + Frame_Shift_Ins INS - - C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 - C - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr6:36652112_36652113insC uc003omm.3 + 2 356_357 c.234_235insC c.(232-237)CTTCCCfs p.L78fs CDKN1A_uc011dtq.1_Frame_Shift_Ins_p.L112fs|CDKN1A_uc003oml.2_Frame_Shift_Ins_p.L78fs|CDKN1A_uc003omn.2_Frame_Shift_Ins_p.L78fs NM_000389 NP_000380 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A 78_79 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding ovary(1)|breast(1) 2 AGCTCTACCTTCCCACGGGGCC 0.663 NaN Multiple_Endocrine_Neoplasia_type_1 NaN NaN NaN NaN NaN 29 7 --- --- KCNV1 27012 broad.mit.edu 37 8 110984590 110984593 + Frame_Shift_Del DEL ACTT ACTT - TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr8:110984590_110984593delACTT uc003ynr.3 - 2 1227_1230 c.885_888delAAGT c.(883-888)CTAAGTfs p.L295fs KCNV1_uc010mcw.2_Frame_Shift_Del_p.L295fs NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 295_296 Helical; Name=Segment S3; (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TCTGGCTCCCACTTAGGCTCTCTA 0.559 NaN NaN NaN NaN NaN NaN 21 62 --- --- RUSC2 9853 broad.mit.edu 37 9 35560363 35560363 + Frame_Shift_Del DEL G G - TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21525d6f-4222-4e0a-9f07-8adbbd55c54f aecc0cdf-ce83-4121-a26b-b31d1d86ec2f g.chr9:35560363delG uc003zww.2 + 10 3981 c.3726delG c.(3724-3726)GAGfs p.E1242fs RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Frame_Shift_Del_p.E1242fs NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1242 Poly-Glu. cytosol ovary(1) 1 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) aagaggaagaggaagaagagg 0.547 NaN NaN NaN NaN NaN NaN 8 16 --- ---