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 MYO15A 51168 broad.mit.edu 37 17 18077153 18077153 + Missense_Mutation SNP C C T TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr17:18077153C>T ENST00000205890.5 + 65 10747 c.10409C>T c.(10408-10410)aCg>aTg p.T3470M RP11-258F1.1_ENST00000577847.1_RNA|MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.T734M NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3470 FERM.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CAGCGGCCCACGGCCAACTCC 0.662000 6 78 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16956467 16956467 + RNA SNP A A T rs1762950 by1000genomes TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr1:16956467A>T ENST00000412962.1 - 0 294 gcaattttttaaatttttagt 0.567000 5 22 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96705526 96705526 + Missense_Mutation SNP A A T TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr13:96705526A>T ENST00000376747.3 - 1 111 c.41T>A c.(40-42)cTa>cAa p.L14Q UGGT2_ENST00000397618.3_Missense_Mutation_p.L14Q|UGGT2_ENST00000376714.3_Missense_Mutation_p.L14Q|UGGT2_ENST00000376712.4_Missense_Mutation_p.L14Q NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 14 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TGTGGAGCCTAGTAGCAGCCG 0.687000 5 11 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16378296 16378296 + Silent SNP A A C TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr1:16378296A>C ENST00000375679.4 + 14 1500 c.1389A>C c.(1387-1389)ccA>ccC p.P463P CLCNKB_ENST00000375667.3_Silent_p.P294P NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCATCATGCCAGGGGGGTATG 0.622000 6 96 0 0 1 0 0 USP6 9098 broad.mit.edu 37 17 5042837 5042837 + Missense_Mutation SNP C C T rs61745111 byFrequency TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr17:5042837C>T ENST00000574788.1 + 22 3596 c.1366C>T c.(1366-1368)Cgg>Tgg p.R456W USP6_ENST00000250066.6_Missense_Mutation_p.R456W|USP6_ENST00000304328.5_Missense_Mutation_p.R139W|USP6_ENST00000332776.4_Missense_Mutation_p.R456W P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 456 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.R456W(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GTCAATGCCCCGGCTCCCAAC 0.612000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 5 72 0 0 1 0 0 DNAJC12 56521 broad.mit.edu 37 10 69556970 69556970 + Splice_Site SNP T T C TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr10:69556970T>C ENST00000225171.2 - 5 655 c.e5-2 DNAJC12_ENST00000483798.2_Splice_Site NM_021800.2 NP_068572.1 Q9UKB3 DJC12_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 12 protein folding heat shock protein binding|unfolded protein binding breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 12 CTGCAAAACCTTTAAAGGAAA 0.378000 9 12 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33287900 33287900 + Silent SNP C C T TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr6:33287900C>T ENST00000374542.5 - 5 1557 c.1353G>A c.(1351-1353)gaG>gaA p.E451E DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.E451E|DAXX_ENST00000414083.2_Silent_p.E376E NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 451 Asp/Glu-rich (acidic).|Necessary for interaction with USP7. activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding p.E451E(2) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 cttcttcttcctcctcctcct 0.557000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 4 44 0 0 1 0 0 USH1G 124590 broad.mit.edu 37 17 72916218 72916218 + Missense_Mutation SNP C C T TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr17:72916218C>T ENST00000319642.1 - 2 895 c.713G>A c.(712-714)cGc>cAc p.R238H NM_173477.2 NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 238 equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) GGCGCTCTTGCGCCCATCCTC 0.687000 7 104 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56171880 56171880 + Splice_Site SNP A A C TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr19:56171880A>C ENST00000450554.2 + 4 1189 c.e4-1 U2AF2_ENST00000308924.4_Splice_Site NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding p.?(2) biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CACCTCCCCCAGTCGTTCCCC 0.637000 4 11 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107867092 107867092 + Silent SNP A A C TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr1:107867092A>C ENST00000370067.1 + 3 1062 c.435A>C c.(433-435)acA>acC p.T145T NTNG1_ENST00000370061.3_Silent_p.T145T|NTNG1_ENST00000370065.1_Silent_p.T145T|NTNG1_ENST00000370070.2_Silent_p.T145T|NTNG1_ENST00000370071.2_Silent_p.T145T|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370066.1_Silent_p.T145T|NTNG1_ENST00000370072.3_Silent_p.T145T|NTNG1_ENST00000370074.4_Silent_p.T145T|NTNG1_ENST00000542803.1_Silent_p.T145T|NTNG1_ENST00000370068.1_Silent_p.T145T|NTNG1_ENST00000370073.2_Silent_p.T145T Q9Y2I2 NTNG1_HUMAN netrin G1 145 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) TTGAGCTAACAGACAACATAG 0.463000 29 51 0 0 1 0 0 SMCR8 140775 broad.mit.edu 37 17 18219366 18219366 + Missense_Mutation SNP A A G TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr17:18219366A>G ENST00000406438.3 + 1 743 c.263A>G c.(262-264)aAt>aGt p.N88S NM_144775.2 NP_658988.2 Q8TEV9 SMCR8_HUMAN Smith-Magenis syndrome chromosome region, candidate 8 88 p.N88S(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 TTTGATCTCAATTACTTCTCC 0.507000 69 111 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 459978 459978 + Missense_Mutation SNP C C G TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr10:459978C>G ENST00000280886.6 - 8 1019 c.932G>C c.(931-933)gGc>gCc p.G311A DIP2C_ENST00000381496.3_Missense_Mutation_p.G204A NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 311 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CGTGACCACGCCCAGCTGCTC 0.627000 27 76 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc 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 17 28 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49208318 49208318 + Missense_Mutation SNP C C T TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr11:49208318C>T ENST00000340334.7 - 6 840 c.472G>A c.(472-474)Gat>Aat p.D158N FOLH1_ENST00000533034.1_Missense_Mutation_p.D158N|FOLH1_ENST00000256999.2_Missense_Mutation_p.D173N|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000356696.3_Missense_Mutation_p.D173N NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 173 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TACACTAGATCGCCCTGTTGA 0.393000 14 32 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81503376 81503376 + Missense_Mutation SNP G G A TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr12:81503376G>A ENST00000548058.1 + 2 1259 c.349G>A c.(349-351)Gtt>Att p.V117I ACSS3_ENST00000261206.3_Missense_Mutation_p.V116I|RP11-543H12.1_ENST00000547123.1_RNA Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 117 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TTACAATGCCGTTGATCGTCA 0.323000 3 26 0 0 1 0 0 CCDC74B-AS1 0 broad.mit.edu 37 2 130893080 130893081 + RNA INS - - A TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr2:130893080_130893081insA ENST00000427638.1 + 0 541_542 NR_033903.1 gactccatctcaaaaaaaaaaa 0.564 2 4 --- --- --- --- PCDHGB4 0 broad.mit.edu 37 5 140767492 140767497 + In_Frame_Del DEL TGCCAG TGCCAG - TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr5:140767492_140767497delTGCCAG ENST00000519479.1 + 1 41_46 c.41_46delTGCCAG c.(40-48)ctg>c p.LPV14del PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 p.P15_V16delPV(1) endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGAGAGGCTGCCAGTGCTCTTTCT 0.617 OREG0016859 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- TG 7038 broad.mit.edu 37 8 133895206 133895207 + Frame_Shift_Ins INS - - G TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr8:133895206_133895207insG ENST00000220616.4 + 8 1077_1078 c.1037_1038insG c.(1036-1038)acafs p.T346fs TG_ENST00000377869.1_Frame_Shift_Ins_p.T346fs NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 346 Thyroglobulin type-1 4. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GGGAAGGAAATGCATGGAACCC 0.614 20 26 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72991713 72991715 + In_Frame_Del DEL CCA CCA - rs4788682 by1000genomes TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr16:72991713_72991715delCCA ENST00000268489.5 - 2 3002_3004 c.2330_2332delTGG c.(2329-2334)gct>g p.VA777del ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.V777V(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) gccgccgcagccaccgccgccgc 0.635 7 216 --- --- --- --- RP11-697E22.2 0 broad.mit.edu 37 17 36003614 36003614 + RNA DEL T T - rs10543338 TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr17:36003614delT ENST00000586163.1 + 0 590 RP11-697E22.2_ENST00000586950.1_RNA ATTAtttatcttttttttttt 0.507 2 4 --- --- --- --- SF3A1 10291 broad.mit.edu 37 22 30742328 30742330 + In_Frame_Del DEL CTG CTG - rs141985009 byFrequency TCGA-EL-A3ZQ-01A-11D-A23M-08 TCGA-EL-A3ZQ-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4694460d-de2a-4b9e-9391-dc57816752bf a51fd081-0952-40bf-8412-b293d88100dc g.chr22:30742328_30742330delCTG ENST00000215793.7 - 3 518_520 c.364_366delCAG c.(364-366)del p.Q122del SF3A1_ENST00000439242.1_Intron NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 122 Poly-Gln. nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 GCTGGGTGGTCTGCTGCTGCTGC 0.606 8 122 --- --- --- ---