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 YY2 404281 broad.mit.edu 37 X 21874958 21874958 + Missense_Mutation SNP C C T TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chrX:21874958C>T ENST00000429584.2 + 1 854 c.356C>T c.(355-357)aCc>aTc p.T119I MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron NM_206923.3 NP_996806.2 O15391 TYY2_HUMAN YY2 transcription factor 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 19 TTCCAGATGACCCTGGCCTCT 0.582000 31 38 0 0 1 0 0 EEFSEC 60678 broad.mit.edu 37 3 128077088 128077088 + Missense_Mutation SNP G G A TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr3:128077088G>A ENST00000254730.6 + 6 1526 c.1472G>A c.(1471-1473)cGc>cAc p.R491H EEFSEC_ENST00000483457.1_Intron NM_021937.3 NP_068756.2 P57772 SELB_HUMAN eukaryotic elongation factor, selenocysteine-tRNA-specific 491 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1) 25 GTGATCGGCCGCTCCCTGTTC 0.567000 4 47 0 0 1 0 0 SASH3 54440 broad.mit.edu 37 X 128914084 128914084 + Missense_Mutation SNP G G A rs140091268 TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chrX:128914084G>A ENST00000356892.3 + 1 125 c.11G>A c.(10-12)cGc>cAc p.R4H SASH3_ENST00000476532.1_3'UTR NM_018990.3 NP_061863.1 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 4 breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 12 ATGCTGCGCCGCAAGCCCTCC 0.577000 22 23 0 0 1 0 0 RBBP8 5932 broad.mit.edu 37 18 20577633 20577633 + Silent SNP A A G TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr18:20577633A>G ENST00000399722.2 + 14 2430 c.2079A>G c.(2077-2079)acA>acG p.T693T RBBP8_ENST00000327155.5_Silent_p.T693T|RBBP8_ENST00000360790.5_Silent_p.T693T|RBBP8_ENST00000399725.2_Silent_p.T693T NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 693 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) TGGACTGTACATTGGTTAGTG 0.299000 Homologous recombination 10 11 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039767 2039767 + Silent SNP G G A TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr9:2039767G>A ENST00000382203.1 + 4 866 c.657G>A c.(655-657)caG>caA p.Q219Q SMARCA2_ENST00000357248.2_Silent_p.Q219Q|SMARCA2_ENST00000349721.2_Silent_p.Q219Q|SMARCA2_ENST00000382194.1_Silent_p.Q219Q|SMARCA2_ENST00000491574.1_3'UTR P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 219 Poly-Gln. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) agcaacaacagcagcagcaac 0.607000 3 20 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 65 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39034494 39034494 + Missense_Mutation SNP G G A TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr17:39034494G>A ENST00000167588.3 - 6 1083 c.1042C>T c.(1042-1044)Cgc>Tgc p.R348C NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 348 Coil 2.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton p.R348C(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TTGTTCTGGCGTTCCATGTTA 0.498000 39 63 0 0 1 0 0 HECW1 23072 broad.mit.edu 37 7 43483867 43483867 + Missense_Mutation SNP G G A TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr7:43483867G>A ENST00000395891.1 + 11 1701 c.1096G>A c.(1096-1098)Gac>Aac p.D366N HECW1_ENST00000453890.1_Missense_Mutation_p.D366N NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 366 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CCAAATTCAGGACAGCCCCAT 0.532000 22 46 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367777 145367777 + Missense_Mutation SNP G G T rs147966568 by1000genomes TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr1:145367777G>T ENST00000342960.5 + 83 10408 c.10373G>T c.(10372-10374)aGg>aTg p.R3458M NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3458 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) gaaagaagaaggggaagaaaa 0.428000 7 49 0.0293803 0.0293803 1 1 0 TTN 7273 broad.mit.edu 37 2 179610827 179610827 + Missense_Mutation SNP C C T TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr2:179610827C>T ENST00000360870.5 - 46 16522 c.16300G>A c.(16300-16302)Gga>Aga p.G5434R TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8941 Ig-like 35. 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) GTGTGACTTCCCTTCTCCTCG 0.408000 38 76 0 0 1 0 0 SUSD2 56241 broad.mit.edu 37 22 24580155 24580155 + Missense_Mutation SNP C C T TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr22:24580155C>T ENST00000358321.3 + 4 752 c.491C>T c.(490-492)aCg>aTg p.T164M NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 164 immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 GTGAACGAGACGCGTTGGCAA 0.602000 19 42 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52404789 52404789 + Missense_Mutation SNP C C T TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr3:52404789C>T ENST00000420323.2 + 41 6734 c.6473C>T c.(6472-6474)gCg>gTg p.A2158V NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2158 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTGGAGGACGCGGGCATCAGT 0.612000 3 15 0 0 1 0 0 RASA1 5921 broad.mit.edu 37 5 86645086 86645086 + Silent SNP T T C TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr5:86645086T>C ENST00000456692.2 + 8 742 c.627T>C c.(625-627)taT>taC p.Y209Y RASA1_ENST00000512763.1_Silent_p.Y219Y|RASA1_ENST00000506290.1_Silent_p.Y220Y|RASA1_ENST00000274376.6_Silent_p.Y386Y NM_022650.2 NP_072179.1 P20936 RASA1_HUMAN RAS p21 protein activator (GTPase activating protein) 1 386 SH2 1. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) CTGGCGATTATTCACTTTATT 0.358000 4 70 0 0 1 0 0 TMEM5 10329 broad.mit.edu 37 12 64174850 64174850 + Missense_Mutation SNP A A C TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr12:64174850A>C ENST00000261234.6 + 2 379 c.221A>C c.(220-222)aAa>aCa p.K74T TMEM5_ENST00000537982.1_3'UTR|TMEM5_ENST00000537373.1_5'UTR|RP11-415I12.3_ENST00000509615.2_RNA NM_014254.1 NP_055069.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 74 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) GGAGATGAAAAAAATGAGCAA 0.363000 29 34 0 0 1 0 0 SLC44A1 23446 broad.mit.edu 37 9 108097922 108097922 + Silent SNP G G T TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr9:108097922G>T ENST00000374720.3 + 4 595 c.348G>T c.(346-348)gcG>gcT p.A116A SLC44A1_ENST00000374723.1_Silent_p.A116A|SLC44A1_ENST00000374724.1_Silent_p.A116A NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 116 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) GTGTAGCAGCGTGTCCAAGGC 0.413000 38 71 4.14481e-20 4.64219e-20 1 1 0 DOCK4 9732 broad.mit.edu 37 7 111395599 111395599 + Missense_Mutation SNP C C T TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr7:111395599C>T ENST00000428084.1 - 42 4660 c.4388G>A c.(4387-4389)cGc>cAc p.R1463H DOCK4_ENST00000437633.1_Missense_Mutation_p.R1454H|DOCK4_ENST00000494651.2_Missense_Mutation_p.R337H Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1454 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TTCAAACCAGCGAGAGATGCC 0.448000 15 34 0 0 1 0 0 PVRL4 81607 broad.mit.edu 37 1 161043038 161043038 + Missense_Mutation SNP C C A TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr1:161043038C>A ENST00000368012.3 - 8 1587 c.1285G>T c.(1285-1287)Gac>Tac p.D429Y PVRL4_ENST00000486694.1_Intron|PVRL4_ENST00000453926.2_Intron NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 429 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CTACTGTTGTCCTTGAGACTA 0.657000 13 68 9.05144e-12 9.74771e-12 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 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 24 45 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563592 75563592 + Missense_Mutation SNP G G A TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr16:75563592G>A ENST00000336257.3 - 3 2085 c.691C>T c.(691-693)Cgc>Tgc p.R231C CHST5_ENST00000541075.1_Missense_Mutation_p.R237C|RP11-77K12.7_ENST00000460606.1_3'UTR NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 231 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 TCCCGGGAGCGCAGCACGGCC 0.706000 41 68 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108236054 108236054 + Missense_Mutation SNP A A G TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr11:108236054A>G ENST00000278616.4 + 63 9375 c.8990A>G c.(8989-8991)gAt>gGt p.D2997G C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.D2997G NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2997 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GTCCTTAGTGATATTGACCAG 0.393000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 33 53 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 79950742 79950750 + In_Frame_Del DEL CCCCCAGCT CCCCCAGCT - rs3045983 TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr5:79950742_79950750delCCCCCAGCT ENST00000265081.6 + 1 276_284 c.196_204delCCCCCAGCT c.(196-204)del p.PPA66del DHFR_ENST00000439211.2_5'UTR NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 66 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) gCCCCCAGCGCCCCCAGCTCCCGCCTTCC 0.732 Mismatch excision repair (MMR) 4 2 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 2 4 --- --- --- --- RP13-726E6.2 0 broad.mit.edu 37 11 3552650 3552651 + RNA INS - - G rs34642454 TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr11:3552650_3552651insG ENST00000527970.1 - 0 285 CAGCACCCCATGGGGGGGCCCT 0.500 3 6 --- --- --- --- TUBB8P7 0 broad.mit.edu 37 16 90161966 90161966 + RNA DEL T T - rs56265310 TCGA-DE-A4MC-01A-11D-A257-08 TCGA-DE-A4MC-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx b417a45f-2656-43a8-beb9-f2f43ea78299 70f3eec2-4f31-4d65-9fba-10516f958af2 g.chr16:90161966delT ENST00000567960.1 + 0 702 TUBB8P7_ENST00000564451.1_RNA CTACCATGAGTTGGGGTCACC 0.542 9 0 --- --- --- ---