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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CA10 56934 broad.mit.edu 37 17 49710999 49710999 + Missense_Mutation SNP G G A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr17:49710999G>A ENST00000451037.2 - 8 1742 c.802C>T c.(802-804)Cgc>Tgc p.R268C CA10_ENST00000340813.6_Missense_Mutation_p.R274C|CA10_ENST00000442502.2_Missense_Mutation_p.R268C|CA10_ENST00000570565.1_Missense_Mutation_p.R193C|CA10_ENST00000285273.4_Missense_Mutation_p.R268C NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 268 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) CTGAGCAGGCGCAAGGAATGC 0.512000 10 66 0 0 1 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26883148 26883148 + Missense_Mutation SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr1:26883148C>T ENST00000374168.2 + 12 1074 c.920C>T c.(919-921)tCc>tTc p.S307F RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S215F|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S291F|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S215F|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S316F|RPS6KA1_ENST00000488985.1_3'UTR|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S296F NM_002953.3 NP_002944.2 Q15418 KS6A1_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 1 307 Protein kinase 1. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) CTTTCAGGCTCCGGCCCTGAT 0.592000 20 52 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162338 90162338 + RNA SNP T T C TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr16:90162338T>C ENST00000567960.1 + 0 1074 TUBB8P7_ENST00000564451.1_RNA GACATCCCACTCCGGGGGCTA 0.483000 4 107 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179554578 179554578 + Missense_Mutation SNP A A G TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr2:179554578A>G ENST00000589042.1 - 122 32032 c.31808T>C c.(31807-31809)gTt>gCt p.V10603A TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9359A|TTN_ENST00000591111.1_Missense_Mutation_p.V10286A|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10286 Glu-rich.|Pro-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCAACAGGAACGGGAATCTT 0.378000 13 169 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 52 0 0 1 0 0 LILRA5 353514 broad.mit.edu 37 19 54822890 54822890 + Missense_Mutation SNP T T G TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr19:54822890T>G ENST00000301219.3 - 5 625 c.506A>C c.(505-507)gAc>gCc p.D169A LILRA5_ENST00000346508.3_Missense_Mutation_p.D157A|LILRA5_ENST00000432233.3_Missense_Mutation_p.D169A|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.D157A NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 169 Ig-like C2-type 2. innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AATGAACCTGTCGAATCTCAG 0.587000 34 58 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141767225 141767225 + Splice_Site SNP C C T rs7778384 by1000genomes TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr7:141767225C>T ENST00000475668.2 + 42 5058 c.5004_splice c.e42+1 p.R1668_splice MGAM_ENST00000549489.2_Intron O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1668 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCCTGGAGCGCGTGAGTATGG 0.592000 3 23 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150923936 150923936 + Missense_Mutation SNP C C G TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr5:150923936C>G ENST00000261800.5 - 9 6764 c.6752G>C c.(6751-6753)gGg>gCg p.G2251A NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2251 Cadherin 19. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGAAAATGACCCCAGAGCTGT 0.478000 13 41 0 0 1 0 0 SBSN 374897 broad.mit.edu 37 19 36018836 36018836 + Silent SNP G G A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr19:36018836G>A ENST00000452271.2 - 1 376 c.348C>T c.(346-348)ggC>ggT p.G116G SBSN_ENST00000518157.1_Silent_p.G116G NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 116 Ala/Gly/His-rich. extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TGACCCCATGGCCAAGCTTCT 0.572000 10 170 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113515335 113515335 + Missense_Mutation SNP T T G TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr12:113515335T>G ENST00000257600.3 + 2 869 c.366T>G c.(364-366)gaT>gaG p.D122E NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 122 WWE 2. negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 CGGCCTACGATATGGACATCT 0.622000 4 75 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5920338 5920338 + Silent SNP A A T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr9:5920338A>T ENST00000399933.3 - 8 5657 c.5658T>A c.(5656-5658)ccT>ccA p.P1886P KIAA2026_ENST00000381461.2_Silent_p.P1856P NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1886 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TCTGAGTACCAGGTGCCAAAG 0.428000 4 185 0 0 1 0 0 ARHGEF1 0 broad.mit.edu 37 19 42409353 42409353 + Missense_Mutation SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr19:42409353C>T ENST00000599846.1 + 25 2569 c.2444C>T c.(2443-2445)gCc>gTc p.A815V ARHGEF1_ENST00000378152.4_Missense_Mutation_p.A741V|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.A759V|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.A726V|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.A774V Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 759 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) ACTGAGACTGCCGGATCCCTG 0.662000 4 89 0 0 1 0 0 TRBV6-7 0 broad.mit.edu 37 7 142143906 142143906 + RNA SNP G G C rs146728507 by1000genomes TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr7:142143906G>C ENST00000390373.2 - 0 89 TCTTCAGGACGTGGAATTTTG 0.527000 7 86 0 0 1 0 0 GPS1 2873 broad.mit.edu 37 17 80013939 80013939 + Silent SNP G G A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr17:80013939G>A ENST00000392358.2 + 8 1366 c.1017G>A c.(1015-1017)cgG>cgA p.R339R GPS1_ENST00000306823.6_Silent_p.R303R|GPS1_ENST00000355130.2_Silent_p.R339R|GPS1_ENST00000320548.4_Silent_p.R283R|GPS1_ENST00000578552.1_Silent_p.R299R NM_212492.1 NP_997657.1 Q13098 CSN1_HUMAN G protein pathway suppressor 1 303 PCI. cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CCTTTGACCGGCAGGAGCTGC 0.652000 4 39 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76563157 76563157 + Missense_Mutation SNP C C T rs143602861 byFrequency TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr17:76563157C>T ENST00000389840.5 - 10 1500 c.1376G>A c.(1375-1377)cGt>cAt p.R459H DNAH17_ENST00000585328.1_Missense_Mutation_p.R459H dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ATCATAGATACGGGTCACCAG 0.527000 3 28 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109794553 109794553 + Missense_Mutation SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr1:109794553C>T ENST00000271332.3 + 1 1913 c.1852C>T c.(1852-1854)Cgg>Tgg p.R618W NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 618 Cadherin 5. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GTACACAGTGCGGCTCAATGA 0.562000 4 113 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241689870 241689870 + Missense_Mutation SNP G G A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr2:241689870G>A ENST00000498729.2 - 28 3199 c.2953C>T c.(2953-2955)Cgc>Tgc p.R985C KIF1A_ENST00000320389.7_Missense_Mutation_p.R884C NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 884 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ACGGCCACGCGGAGGAAGCCC 0.657000 9 40 0 0 1 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26666643 26666643 + Silent SNP C C A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr17:26666643C>A ENST00000226225.2 + 2 363 c.96C>A c.(94-96)ctC>ctA p.L32L TNFAIP1_ENST00000583213.1_Intron|TNFAIP1_ENST00000544907.2_Intron NM_021137.4 NP_066960.1 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 (endothelial) 32 BTB. apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) ATGTCCAGCTCAACGTGGGCG 0.637000 24 64 2.32416e-17 2.56132e-17 1 1 0 ZBTB4 57659 broad.mit.edu 37 17 7366351 7366351 + Missense_Mutation SNP C C A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr17:7366351C>A ENST00000311403.4 - 4 2289 c.1950G>T c.(1948-1950)gaG>gaT p.E650D ZBTB4_ENST00000380599.4_Missense_Mutation_p.E650D NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 650 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) cctcctcatcctcctcctcct 0.607000 4 41 2.56e-06 2.71059e-06 1 1 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G A rs121913499 TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr2:209113113G>A ENST00000415913.1 - 4 775 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 15 40 0 0 1 0 0 C19orf47 126526 broad.mit.edu 37 19 40828229 40828229 + Missense_Mutation SNP C C A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr19:40828229C>A ENST00000582783.1 - 9 841 c.829G>T c.(829-831)Gct>Tct p.A277S C19orf47_ENST00000584868.1_5'UTR|C19orf47_ENST00000392035.2_Missense_Mutation_p.A210S NM_001256440.1 NP_001243369.1 Q8N9M1 CS047_HUMAN chromosome 19 open reading frame 47 277 endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Lung(22;0.000636) CTGTCCCAAGCCAGATCCTCG 0.612000 16 35 1.37285e-15 1.48268e-15 1 1 0 LRRIQ1 84125 broad.mit.edu 37 12 85450803 85450803 + Silent SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr12:85450803C>T ENST00000393217.2 + 8 2293 c.2232C>T c.(2230-2232)gcC>gcT p.A744A NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 744 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) GGAGACTAGCCTGGATAAAAT 0.368000 101 225 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560758 44560758 + Missense_Mutation SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr18:44560758C>T ENST00000332567.4 - 1 1230 c.878G>A c.(877-879)cGt>cAt p.R293H KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 293 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGCAGGGACACGCTGGCCGCT 0.627000 51 92 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723596 49723596 + Missense_Mutation SNP G G A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr3:49723596G>A ENST00000449682.2 - 9 1407 c.1046C>T c.(1045-1047)cCc>cTc p.P349L MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 335 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.P335L(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGAGCCGTCGGGGTTCCGGCA 0.667000 3 42 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 37038775 37038775 + Missense_Mutation SNP A A G TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr5:37038775A>G ENST00000282516.8 + 34 6542 c.6043A>G c.(6043-6045)Ata>Gta p.I2015V NIPBL_ENST00000448238.2_Missense_Mutation_p.I2015V NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 2015 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ATTCAGCAAAATAAGACCCCA 0.363000 11 25 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231333193 231333193 + Missense_Mutation SNP A A G TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr1:231333193A>G ENST00000444294.3 + 2 1979 c.1121A>G c.(1120-1122)aAc>aGc p.N374S TRIM67_ENST00000366652.2_Missense_Mutation_p.N374S|TRIM67_ENST00000449018.3_Missense_Mutation_p.N312S|TRIM67_ENST00000366653.5_Missense_Mutation_p.N374S NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 374 cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CAGCTAAAGAACATATTGCAG 0.433000 3 67 0 0 1 0 0 USB1 79650 broad.mit.edu 37 16 58036476 58036476 + Silent SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr16:58036476C>T ENST00000219281.3 + 2 303 c.192C>T c.(190-192)agC>agT p.S64S USB1_ENST00000423271.3_Silent_p.S64S|USB1_ENST00000539737.2_Silent_p.S64S|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000561743.1_Silent_p.S13S|USB1_ENST00000563149.1_Silent_p.S64S NM_024598.3 NP_078874.2 U6 snRNA biogenesis 1 AAGATGACAGCACAAAACACG 0.592000 40 36 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091118 9091118 + Missense_Mutation SNP G G T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr19:9091118G>T ENST00000397910.4 - 1 900 c.697C>A c.(697-699)Ctt>Att p.L233I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 233 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGAATAAAGTGTCCCAAAT 0.463000 5 68 3.59834e-05 3.73673e-05 1 1 0 TRBV6-7 0 broad.mit.edu 37 7 142143907 142143907 + RNA SNP T T C TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr7:142143907T>C ENST00000390373.2 - 0 88 CTTCAGGACGTGGAATTTTGG 0.527000 7 87 0 0 1 0 0 PI4KB 5298 broad.mit.edu 37 1 151288289 151288289 + Missense_Mutation SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr1:151288289C>T ENST00000368875.2 - 3 1285 c.705G>A c.(703-705)atG>atA p.M235I PI4KB_ENST00000271657.5_Missense_Mutation_p.M235I|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368873.1_Missense_Mutation_p.M223I|PI4KB_ENST00000368874.4_Missense_Mutation_p.M223I|PI4KB_ENST00000368872.1_Missense_Mutation_p.M223I NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 223 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TGGAAATGTGCATGTCTGAAG 0.542000 23 34 0 0 1 0 0 SSTR5 0 broad.mit.edu 37 16 1129911 1129911 + Missense_Mutation SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr16:1129911C>T ENST00000293897.4 + 1 1131 c.1043C>T c.(1042-1044)cCa>cTa p.P348L SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.P348L NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 348 PPAHR -> RPRT (in Ref. 1; AAA20828). negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) GAGGCCACGCCACCCGCGCAC 0.701000 3 12 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299264 125299264 + Missense_Mutation SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chrX:125299264C>T ENST00000538699.1 - 2 724 c.644G>A c.(643-645)gGc>gAc p.G215D DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G215D NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 215 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 AGCCACGGTGCCGTCGCGGGA 0.642000 10 22 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137790074 137790074 + Missense_Mutation SNP G G C TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr7:137790074G>C ENST00000242375.3 + 5 520 c.478G>C c.(478-480)Gct>Cct p.A160P AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.A160P|AKR1D1_ENST00000411726.2_Intron NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 160 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TTGCAAAGACGCTGGCTTGGT 0.478000 61 113 0 0 1 0 0 RBPJL 11317 broad.mit.edu 37 20 43943137 43943137 + Missense_Mutation SNP C C A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr20:43943137C>A ENST00000343694.3 + 9 1024 c.952C>A c.(952-954)Cca>Aca p.P318T RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.P318T|RBPJL_ENST00000372741.3_Missense_Mutation_p.P318T NM_014276.2 NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 318 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) ATTCCAGTTTCCAGGCAGTCC 0.522000 4 123 0.00909568 0.00909568 1 1 0 MUC16 94025 broad.mit.edu 37 19 9057963 9057963 + Missense_Mutation SNP G G A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr19:9057963G>A ENST00000397910.4 - 3 29686 c.29483C>T c.(29482-29484)tCc>tTc p.S9828F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9830 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGGACAGAGGAATGAGATTC 0.463000 38 66 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16959803 16959803 + RNA SNP G G A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr1:16959803G>A ENST00000412962.1 - 0 54 p.A21A(1) TTCCCAGGCCGGCCTCCTGGA 0.642000 5 19 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142505558 142505558 + RNA SNP G G T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr8:142505558G>T ENST00000430863.1 - 0 368 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CACTGTTCATGTCCTGCAGCA 0.537000 21 43 4.54149e-19 5.10917e-19 1 1 0 ATG2A 23130 broad.mit.edu 37 11 64669827 64669827 + Missense_Mutation SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr11:64669827C>T ENST00000421419.2 - 28 3929 c.3815G>A c.(3814-3816)tGc>tAc p.C1272Y ATG2A_ENST00000377264.3_Missense_Mutation_p.C1270Y Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1270 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 CACTGGGGGGCACGAGGGCAG 0.687000 9 10 0 0 1 0 0 WRNIP1 56897 broad.mit.edu 37 6 2770371 2770371 + Silent SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr6:2770371C>T ENST00000380769.4 + 3 603 c.372C>T c.(370-372)caC>caT p.H124H WRNIP1_ENST00000380771.4_Intron|WRNIP1_ENST00000380773.4_Silent_p.H344H|WRNIP1_ENST00000380764.1_5'UTR Q96S55 WRIP1_HUMAN Werner helicase interacting protein 1 344 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) TCCTTCCTCACGTGGAATGTG 0.488000 24 51 0 0 1 0 0 MST1 4485 broad.mit.edu 37 3 49723603 49723603 + Missense_Mutation SNP G G A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr3:49723603G>A ENST00000449682.2 - 9 1400 c.1039C>T c.(1039-1041)Cgg>Tgg p.R347W MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 333 Kringle 3. proteolysis extracellular region serine-type endopeptidase activity p.R333W(5) NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TCGGGGTTCCGGCAGAAGTTC 0.662000 3 42 0 0 1 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128901598 128901598 + Missense_Mutation SNP C C G TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chrX:128901598C>G ENST00000371106.3 + 20 1952 c.1760C>G c.(1759-1761)aCc>aGc p.T587S NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 587 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 AGCTACCTGACCTTTGAAGTG 0.567000 54 17 0 0 1 0 0 KCNA3 3738 broad.mit.edu 37 1 111217282 111217282 + Silent SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr1:111217282C>T ENST00000369769.2 - 1 373 c.150G>A c.(148-150)ccG>ccA p.P50P NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 50 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) TCATGTCGGGCGGCAGCTCGC 0.776000 5 17 0 0 1 0 0 CPEB3 22849 broad.mit.edu 37 10 93999747 93999747 + Missense_Mutation SNP C C G TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr10:93999747C>G ENST00000412050.4 - 2 449 c.361G>C c.(361-363)Gac>Cac p.D121H CPEB3_ENST00000265997.4_Missense_Mutation_p.D121H NM_001178137.1 NP_001171608.1 Q8NE35 CPEB3_HUMAN cytoplasmic polyadenylation element binding protein 3 121 Pro-rich. nucleotide binding|RNA binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0869) AAGAAGCTGTCCTCTACCGCG 0.667000 5 7 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25044068 25044068 + Silent SNP G G A rs146166448 by1000genomes TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr13:25044068G>A ENST00000381989.3 - 16 2115 c.2010C>T c.(2008-2010)ttC>ttT p.F670F NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 670 VIT. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) TGAAGGCTTCGAAGCCACACA 0.458000 3 19 0 0 1 0 0 AC024560.3 0 broad.mit.edu 37 3 197348634 197348634 + RNA SNP G G C TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr3:197348634G>C ENST00000418868.1 - 0 625 NR_003266.2 CAGCAGCACCGATGGGCCTGC 0.542000 5 87 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99909507 99909507 + Silent SNP C C T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr7:99909507C>T ENST00000332397.6 + 4 863 c.679C>T c.(679-681)Ctg>Ttg p.L227L SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 227 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GGCAGAGACGCTGTGTGGCCT 0.587000 40 80 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947006 57947006 + Missense_Mutation SNP G G T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr11:57947006G>T ENST00000335397.3 + 3 406 c.90G>T c.(88-90)ttG>ttT p.L30F NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TCTTCCTCTTGTTTTTATTTA 0.448000 4 144 0.000602214 0.000613577 1 1 0 PTEN 5728 broad.mit.edu 37 10 89717715 89717716 + Frame_Shift_Ins INS - - A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr10:89717715_89717716insA ENST00000371953.3 + 7 2097_2098 c.740_741insA c.(739-741)tccfs p.S247fs PTEN_ENST00000472832.1_3'UTR NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 247 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) CCTCAGCCGTTACCTGTGTGTG 0.406 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 16 14 --- --- --- --- HNRNPKP3 0 broad.mit.edu 37 11 43283605 43283606 + RNA INS - - A TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr11:43283605_43283606insA ENST00000511537.1 - 0 1329_1330 NR_033868.1 GAAGCAAATGTAAAAAAAAAAA 0.386 2 4 --- --- --- --- ZNF268 10795 broad.mit.edu 37 12 133780636 133780636 + Frame_Shift_Del DEL T T - TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr12:133780636delT ENST00000536435.2 + 6 2694 c.2364delT c.(2362-2364)gcfs p.A788fs ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.A788fs|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.A627fs NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 788 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GTGGGAAAGCTTTTAGCAGCA 0.408 2 4 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74394379 74394380 + RNA INS - - A rs142790741 by1000genomes TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr16:74394379_74394380insA ENST00000429810.2 - 0 435 TAGTCATCCTTAAACAAAATTC 0.347 2 4 --- --- --- --- HOXB4 3214 broad.mit.edu 37 17 46657168 46657169 + Translation_Start_Site DEL AT AT - TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr17:46657168_46657169delAT ENST00000332503.5 - 0 304_305 HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000472863.1_Intron NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 CTACATATACATATATATATAT 0.361 2 4 --- --- --- --- TBCD 6904 broad.mit.edu 37 17 80900326 80900327 + Splice_Site INS - - T TCGA-KK-A6E7-01A-11D-A31L-08 TCGA-KK-A6E7-11A-11D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6bde582d-6c64-4529-9771-e7f9df342b04 8a82ccc3-d5f6-4647-9699-604814692936 g.chr17:80900326_80900327insT ENST00000355528.4 + 39 3696_3697 c.3564_splice c.e39-1 p.R1189_splice TBCD_ENST00000576691.1_3'UTR|TBCD_ENST00000539345.2_Splice_Site_p.R1227_splice NM_005993.4 NP_005984.3 Q9BTW9 TBCD_HUMAN tubulin folding cofactor D 1189 'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction beta-tubulin binding|chaperone binding|GTPase activator activity Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0266)|all_epithelial(8;0.0696) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18) CTTCTTCAGCCTGGTGCCTGCT 0.619 31 46 --- --- --- ---