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 SLC6A9 6536 broad.mit.edu 37 1 44482733 44482733 + Missense_Mutation SNP A A G TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr1:44482733A>G ENST00000360584.2 - 1 264 c.73T>C c.(73-75)Tct>Cct p.S25P SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.S25P|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000475075.2_Intron NM_201649.3 NP_964012.2 P48067 SC6A9_HUMAN solute carrier family 6 (neurotransmitter transporter, glycine), member 9 25 integral to plasma membrane|membrane fraction glycine:sodium symporter activity|neurotransmitter:sodium symporter activity endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2) 22 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) Glycine(DB00145) TCTGGGGAAGAGGGGGCCACA 0.672000 3 51 0 0 1 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117984149 117984149 + Splice_Site SNP A A G TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr11:117984149A>G ENST00000534111.1 + 9 1168 c.904_splice c.e9+1 p.S301_splice TMPRSS4_ENST00000523251.1_Splice_Site_p.S263_splice|TMPRSS4_ENST00000522824.1_Splice_Site_p.S298_splice|TMPRSS4_ENST00000522307.1_Splice_Site_p.S156_splice|TMPRSS4_ENST00000437212.3_Splice_Site_p.S303_splice|TMPRSS4_ENST00000518413.2_3'UTR NM_001083947.1|NM_001173551.1|NM_019894.3 NP_001077416.1|NP_001167022.1|NP_063947.1 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 303 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) TCACTTTCTCAGGTGAGAAGC 0.517000 3 81 0 0 1 0 0 BMP2K 55589 broad.mit.edu 37 4 79792085 79792085 + Missense_Mutation SNP G G C rs71828885 TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr4:79792085G>C ENST00000335016.5 + 11 1546 c.1380G>C c.(1378-1380)caG>caC p.Q460H BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H NM_198892.1 NP_942595.1 Q9NSY1 BMP2K_HUMAN BMP2 inducible kinase 460 Gln/His-rich. nucleus ATP binding|protein serine/threonine kinase activity p.Q460H(3) NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 13 ATCCTCACcagcagcagcagc 0.577000 3 47 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67264231 67264231 + Missense_Mutation SNP G G A TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr16:67264231G>A ENST00000258201.4 - 19 3284 c.3037C>T c.(3037-3039)Cgc>Tgc p.R1013C FHOD1_ENST00000567687.1_Missense_Mutation_p.R592C NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 1013 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GTGATCATGCGTCCCCGGGTC 0.582000 3 66 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90126912 90126912 + Missense_Mutation SNP G G T TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr16:90126912G>T ENST00000449207.2 - 9 1089 c.1070C>A c.(1069-1071)tCt>tAt p.S357Y PRDM7_ENST00000407825.1_Intron|PRDM7_ENST00000325921.6_Intron NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 357 SET. S -> Y (in Ref. 2; AAF78084). chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) CTCATCCCCAGACCAGACCAG 0.532000 3 78 0.115264 0.120503 1 1 0 SEMA6A 57556 broad.mit.edu 37 5 115783144 115783144 + Missense_Mutation SNP G G A TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr5:115783144G>A ENST00000343348.6 - 19 3045 c.2258C>T c.(2257-2259)aCg>aTg p.T753M SEMA6A_ENST00000513137.1_Missense_Mutation_p.T180M|SEMA6A_ENST00000510263.1_Missense_Mutation_p.T753M|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T770M|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T230M|SEMA6A_ENST00000503865.1_Missense_Mutation_p.T132M NM_020796.3 NP_065847.1 Q9H2E6 SEM6A_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A 753 apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis axon|integral to membrane|plasma membrane receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203) OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151) GGGGAGGGCCGTCAGGTCCAG 0.637000 5 243 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18368263 18368263 + Silent SNP G G A TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr19:18368263G>A ENST00000392413.3 - 4 4046 c.3831C>T c.(3829-3831)ggC>ggT p.G1277G KIAA1683_ENST00000600359.2_Silent_p.G1044G|KIAA1683_ENST00000600328.2_Silent_p.G1090G NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 0 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CTGCCCCGGGGCCCTCAGTGC 0.687000 4 22 0 0 1 0 0 OR6K6 128371 broad.mit.edu 37 1 158725536 158725536 + Missense_Mutation SNP T T C TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr1:158725536T>C ENST00000368144.2 + 1 1027 c.931T>C c.(931-933)Ttt>Ctt p.F311L NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CCTTGCTCCCTTTTTCAACCC 0.438000 3 100 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879561 144879561 + Missense_Mutation SNP A A G TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr1:144879561A>G ENST00000369359.4 - 30 4335 c.4297T>C c.(4297-4299)Tgt>Cgt p.C1433R PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1433R|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1297R|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.C1253R Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1297 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.C1297R(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGCTCCTCACACTCTGAAAAA 0.502000 T PDGFRB MPD 3 60 0 0 1 0 0 ZNF749 388567 broad.mit.edu 37 19 57956103 57956103 + Silent SNP T T C TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr19:57956103T>C ENST00000334181.4 + 3 1837 c.1587T>C c.(1585-1587)caT>caC p.H529H AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 529 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TAGTTCAGCATGAGAAAATCC 0.453000 4 102 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 4 145 0 0 1 0 0 CBX2 84733 broad.mit.edu 37 17 77755652 77755652 + Missense_Mutation SNP G G A TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr17:77755652G>A ENST00000269399.5 + 4 382 c.340G>A c.(340-342)Gta>Ata p.V114I CBX2_ENST00000310942.4_Intron NM_032647.3 NP_116036.1 Q14781 CBX2_HUMAN chromobox homolog 2 0 Ser-rich. cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding p.V114L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CCCCCTTGGCGTAGGGGGCAG 0.637000 4 61 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G G C TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr20:29628283G>C ENST00000278882.3 + 6 665 c.285G>C c.(283-285)ggG>ggC p.G95G FRG1B_ENST00000358464.4_Silent_p.G95G|FRG1B_ENST00000439954.2_Silent_p.G100G p.G95G(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 5 125 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26809335 26809335 + Missense_Mutation SNP C C T TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr12:26809335C>T ENST00000381340.3 - 19 2755 c.2339G>A c.(2338-2340)cGc>cAc p.R780H NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 780 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) GAGCATGAGGCGACAGAAGGA 0.562000 10 63 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45427465 45427465 + Silent SNP G G A TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr15:45427465G>A ENST00000321429.4 + 6 878 c.471G>A c.(469-471)cgG>cgA p.R157R DUOX1_ENST00000389037.3_Silent_p.R157R NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 157 Peroxidase-like; mediates peroxidase activity. cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) AGACCGGACGGAGTCCCAGCA 0.726000 6 14 0 0 1 0 0 RNPEPL1 57140 broad.mit.edu 37 2 241516021 241516021 + Missense_Mutation SNP C C T TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr2:241516021C>T ENST00000270357.3 + 9 1480 c.887C>T c.(886-888)tCc>tTc p.S296F RNPEPL1_ENST00000464550.1_3'UTR NM_018226.4 NP_060696.4 Q9HAU8 RNPL1_HUMAN arginyl aminopeptidase (aminopeptidase B)-like 1 296 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) TCTCAGGGATCCAGCCTGACC 0.662000 9 41 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582609 136582609 + Missense_Mutation SNP C C A TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr6:136582609C>A ENST00000531224.1 - 12 2803 c.2551G>T c.(2551-2553)Gac>Tac p.D851Y BCLAF1_ENST00000031135.9_Missense_Mutation_p.D69Y|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D800Y|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D802Y|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000392348.2_Missense_Mutation_p.D800Y|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D849Y|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D678Y NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 851 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCATCTCTGTCGTCATGCTAC 0.378000 3 142 1 1 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 16 68 0 0 1 0 0 HRH1 3269 broad.mit.edu 37 3 11301013 11301013 + Missense_Mutation SNP G G A rs139664451 byFrequency TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr3:11301013G>A ENST00000397056.1 + 3 481 c.290G>A c.(289-291)cGt>cAt p.R97H HRH1_ENST00000438284.2_Missense_Mutation_p.R97H|HRH1_ENST00000431010.2_Missense_Mutation_p.R97H NM_000861.3|NM_001098211.1 NP_000852.1|NP_001091681.1 P35367 HRH1_HUMAN histamine receptor H1 97 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) TCACTGGGCCGTCCTCTCTGC 0.552000 5 218 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43318571 43318571 + Missense_Mutation SNP G G A TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr10:43318571G>A ENST00000374518.4 + 20 3201 c.3138G>A c.(3136-3138)atG>atA p.M1046I NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor 1046 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity p.M1046I(1) NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGTAGGGAATGTTTAATTCTG 0.393000 4 152 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr8:124368685delA ENST00000287394.5 - 13 1697 c.1590delT c.(1588-1590)ttfs p.F530fs ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CAATTTCGTCAAAAAAAATAA 0.413 7 48 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21805466 21805467 + In_Frame_Ins INS - - CCTCCT rs138084841 by1000genomes TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr10:21805466_21805467insCCTCCT ENST00000449193.2 - 4 3537_3538 c.1285_1286insAGGAGG c.(1285-1287)ggg>AGGAGGggg p.428_429insRR SKIDA1_ENST00000444772.3_In_Frame_Ins_p.349_350insRR NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 p.E428_G429insEE(2) CCCGCTGCccccctcctcctcc 0.619 3 6 --- --- --- --- SCUBE2 57758 broad.mit.edu 37 11 9113009 9113011 + In_Frame_Del DEL GCA GCA - rs72509739 TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr11:9113009_9113011delGCA ENST00000457346.2 - 1 139_141 c.65_67delTGC c.(64-69)ccg>c p.LP22del SCUBE2_ENST00000450649.2_In_Frame_Del_p.LP22del|SCUBE2_ENST00000534295.1_Intron|SCUBE2_ENST00000520467.1_In_Frame_Del_p.LP22del|SCUBE2_ENST00000309263.3_In_Frame_Del_p.LP22del Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 22 extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) agcagtggcggcagcagcagcag 0.788 5 3 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 3 5 --- --- --- --- DHX37 57647 broad.mit.edu 37 12 125465270 125465272 + In_Frame_Del DEL CTC CTC - TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr12:125465270_125465272delCTC ENST00000308736.2 - 4 600_602 c.502_504delGAG c.(502-504)del p.E168del NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 168 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.E168delE(3) breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) CCGATTCCGActcctcctcctcc 0.690 3 6 --- --- --- --- SHANK1 50944 broad.mit.edu 37 19 51171483 51171483 + Frame_Shift_Del DEL C C - TCGA-DJ-A3UW-01A-11D-A22D-08 TCGA-DJ-A3UW-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1b2700c9-c5cd-43cc-9921-8c1da6c3daa2 c186be48-2e85-4d41-a984-6d7806aae265 g.chr19:51171483delC ENST00000293441.1 - 22 3752 c.3734delG c.(3733-3735)gcfs p.G1245fs SHANK1_ENST00000391813.1_Frame_Shift_Del_p.G632fs|SHANK1_ENST00000359082.3_Frame_Shift_Del_p.G1236fs|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Frame_Shift_Del_p.G1253fs NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1245 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) ATTCTGCCAGCCCCCCTCCCT 0.796 2 4 --- --- --- ---