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 SLC39A8 64116 broad.mit.edu 37 4 103228643 103228643 + Missense_Mutation SNP G G C TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr4:103228643G>C ENST00000424970.2 - 4 817 c.502C>G c.(502-504)Ctg>Gtg p.L168V SLC39A8_ENST00000394833.2_Missense_Mutation_p.L168V|SLC39A8_ENST00000510255.1_5'UTR|SLC39A8_ENST00000356736.4_Missense_Mutation_p.L168V NM_001135147.1 NP_001128619.1 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), member 8 168 integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) CCAATAGCCAGCCCCACAAAA 0.363000 5 132 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234891753 234891753 + Silent SNP C C T rs144605883 TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr2:234891753C>T ENST00000324695.4 + 20 2686 c.2646C>T c.(2644-2646)ggC>ggT p.G882G TRPM8_ENST00000433712.2_Silent_p.G460G NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 882 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TGGCCTTTGGCGTGGCCAGGC 0.592000 4 160 0 0 1 0 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 3 60 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77354692 77354692 + Missense_Mutation SNP G G A TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr9:77354692G>A ENST00000451710.3 - 33 5683 c.5446C>T c.(5446-5448)Cgg>Tgg p.R1816W TRPM6_ENST00000360774.1_Missense_Mutation_p.R1812W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1807W|TRPM6_ENST00000376864.4_Missense_Mutation_p.R1816W|TRPM6_ENST00000376872.3_Missense_Mutation_p.R767W|TRPM6_ENST00000376871.3_Missense_Mutation_p.R649W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1807W Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1812 Alpha-type protein kinase. response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 TGCCATGTCCGCACAACCTCA 0.488000 4 120 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756360 94756360 + Missense_Mutation SNP C C A TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr14:94756360C>A ENST00000554723.1 - 2 1109 c.691G>T c.(691-693)Gtg>Ttg p.V231L SERPINA10_ENST00000554173.1_Missense_Mutation_p.V191L|SERPINA10_ENST00000393096.1_Missense_Mutation_p.V191L|SERPINA10_ENST00000261994.4_Missense_Mutation_p.V191L Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 191 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TTCATAGGCACGCACTCTGTA 0.418000 4 80 0.150653 0.163208 1 1 0 NKAP 79576 broad.mit.edu 37 X 119059273 119059273 + Missense_Mutation SNP G G T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chrX:119059273G>T ENST00000371410.3 - 9 1324 c.1158C>A c.(1156-1158)aaC>aaA p.N386K NKAP_ENST00000477789.1_5'UTR NM_024528.3 NP_078804.2 Q8N5F7 NKAP_HUMAN NFKB activating protein 386 Necessary for interaction with HDAC3 and transcriptional repression. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1) 20 TCTCTTCTTGGTTAAAGGATG 0.438000 4 79 0.00024832 0.000307444 1 1 0 AAED1 195827 broad.mit.edu 37 9 99417014 99417014 + Silent SNP C C G TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr9:99417014C>G ENST00000375234.3 - 2 233 c.234G>C c.(232-234)ctG>ctC p.L78L AAED1_ENST00000464512.1_5'UTR NM_153698.1 NP_714542.1 Q7RTV5 CI021_HUMAN AhpC/TSA antioxidant enzyme domain containing 1 78 antioxidant activity|oxidoreductase activity GGATTTTGGCCAGATCCTCTA 0.582000 2 2 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534286 534286 + Missense_Mutation SNP C C G rs104894228 TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr11:534286C>G ENST00000417302.1 - 2 224 c.37G>C c.(37-39)Ggt>Cgt p.G13R HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000451590.1_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TTGCCCACACCGCCGGCGCCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 11 24 0 0 1 0 0 MSN 4478 broad.mit.edu 37 X 64951750 64951750 + Missense_Mutation SNP A A G TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chrX:64951750A>G ENST00000360270.5 + 6 774 c.602A>G c.(601-603)tAt>tGt p.Y201C NM_002444.2 NP_002435.1 P26038 MOES_HUMAN moesin 201 FERM. leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 CTGGAGATGTATGGTGTGAAC 0.493000 T ALK ALCL 17 80 0 0 1 0 0 MSH6 2956 broad.mit.edu 37 2 48032102 48032102 + Silent SNP G G T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr2:48032102G>T ENST00000234420.4 + 6 3644 c.3492G>T c.(3490-3492)gtG>gtT p.V1164V MSH6_ENST00000538136.1_Silent_p.V862V|MSH6_ENST00000540021.1_Silent_p.V1034V|FBXO11_ENST00000405808.1_Intron NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 1164 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTGCTGAAGTGTGCAGGCTCA 0.438000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 3 49 1 1 1 1 0 UBBP4 23666 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 3 40 0.115264 0.130298 1 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 31 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66873753 66873753 + Missense_Mutation SNP G G A TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr17:66873753G>A ENST00000269080.2 - 31 4123 c.3986C>T c.(3985-3987)gCg>gTg p.A1329V ABCA8_ENST00000430352.2_Missense_Mutation_p.A1369V|ABCA8_ENST00000586539.1_Missense_Mutation_p.A1369V NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 1329 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.A1329V(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GGGCCACAGCGCGTTCTCCTG 0.597000 4 77 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152277659 152277659 + Missense_Mutation SNP C C T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr1:152277659C>T ENST00000368799.1 - 3 9738 c.9703G>A c.(9703-9705)Gct>Act p.A3235T FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3235 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTCTGGAAGCAGACCCAGAC 0.592000 Ichthyosis 12 210 0 0 1 0 0 APAF1 317 broad.mit.edu 37 12 99117515 99117515 + Silent SNP A A G TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr12:99117515A>G ENST00000357310.1 + 23 3751 c.3174A>G c.(3172-3174)tcA>tcG p.S1058S APAF1_ENST00000333991.1_Intron|APAF1_ENST00000551964.1_Silent_p.S1101S|APAF1_ENST00000339433.3_Silent_p.S1058S|APAF1_ENST00000549007.1_Silent_p.S1058S|APAF1_ENST00000547045.1_Silent_p.S1058S|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Silent_p.S1047S|APAF1_ENST00000550527.1_Silent_p.S1090S NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 1101 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) CCAAGTTTTCATCTACCTCTG 0.353000 7 110 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100258051 100258051 + Silent SNP C C T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr9:100258051C>T ENST00000355295.4 + 17 3478 c.3183C>T c.(3181-3183)aaC>aaT p.N1061N TDRD7_ENST00000422139.2_Silent_p.N987N|TDRD7_ENST00000540902.1_Silent_p.N381N NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 1061 Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity). lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) AAAATGCTAACCCTTGGGACC 0.463000 7 65 0 0 1 0 0 TOP1MT 116447 broad.mit.edu 37 8 144407615 144407615 + Missense_Mutation SNP A A G TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr8:144407615A>G ENST00000523676.1 - 6 683 c.278T>C c.(277-279)aTt>aCt p.I93T TOP1MT_ENST00000519148.1_Missense_Mutation_p.I93T|TOP1MT_ENST00000521193.1_Missense_Mutation_p.I93T|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I191T Q969P6 TOP1M_HUMAN topoisomerase (DNA) I, mitochondrial 191 DNA topological change chromosome|mitochondrial nucleoid ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) AGGCGGCTCAATCTTGAAGTT 0.473000 3 50 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51944754 51944754 + Missense_Mutation SNP C C T rs149841071 TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr6:51944754C>T ENST00000371117.3 - 5 609 c.334G>A c.(334-336)Ggg>Agg p.G112R PKHD1_ENST00000340994.4_Missense_Mutation_p.G112R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 112 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AGCTGTCCCCCGAAGTATGCT 0.463000 4 117 0 0 1 0 0 MIR656 724026 broad.mit.edu 37 14 101533126 101533126 + RNA SNP C C T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr14:101533126C>T ENST00000385224.1 + 0 66 NR_030392.1 CAACCTCTTTCCGATATCGAA 0.507000 4 79 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179611367 179611367 + Missense_Mutation SNP T T A TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr2:179611367T>A ENST00000360870.5 - 46 15982 c.15760A>T c.(15760-15762)Atg>Ttg p.M5254L TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8773 Ig-like 33. 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) GCATGACACATGTACTCTCCC 0.418000 4 55 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75841698 75841698 + Silent SNP G G A TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr6:75841698G>A ENST00000322507.8 - 35 6204 c.5895C>T c.(5893-5895)cgC>cgT p.R1965R COL12A1_ENST00000345356.6_Silent_p.R801R|COL12A1_ENST00000483888.2_Silent_p.R1965R|COL12A1_ENST00000416123.2_Silent_p.R1965R NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1965 Fibronectin type-III 15. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 AATACACAACGCGATATTGCA 0.463000 23 25 0 0 1 0 0 PATL1 219988 broad.mit.edu 37 11 59418227 59418227 + Splice_Site DEL T T - TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr11:59418227delT ENST00000300146.9 - 13 1668 c.1584_splice c.e13+1 p.K528_splice NM_152716.2 NP_689929.2 Q86TB9 PATL1_HUMAN protein associated with topoisomerase II homolog 1 (yeast) 528 Region C. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body protein binding|RNA binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 CTAAACTTACTTTCTCAATTA 0.313 2 4 --- --- --- --- DENND4A 10260 broad.mit.edu 37 15 66021931 66021931 + Frame_Shift_Del DEL T T - TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr15:66021931delT ENST00000443035.3 - 10 1467 c.1252delA c.(1252-1254)ttfs p.I418fs DENND4A_ENST00000431932.2_Frame_Shift_Del_p.I418fs NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 418 DENN. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TGGATAAGAATTTTATGTTCT 0.403 2 4 --- --- --- --- SNORD3B-1 26851 broad.mit.edu 37 17 18965296 18965297 + RNA INS - - T TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr17:18965296_18965297insT ENST00000363359.1 + 0 72_73 tagagcaccgaaaaccccgagg 0.495 2 4 --- --- --- --- BSG 682 broad.mit.edu 37 19 577826 577826 + Frame_Shift_Del DEL G G - TCGA-SR-A6MQ-01A-11D-A35I-08 TCGA-SR-A6MQ-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1437acf1-5eac-48d6-9bd6-aed2266c82e3 e593e74f-35a2-4df8-9717-7e4974edf3e0 g.chr19:577826delG ENST00000333511.3 + 2 190 c.120delG c.(118-120)gtfs p.V40fs BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000545507.2_Intron|BSG_ENST00000346916.4_Intron NM_001728.3 NP_001719.2 P35613 BASI_HUMAN basigin 40 blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding central_nervous_system(1)|endometrium(3)|lung(1) 5 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGCAGTGTGGAGCTGCACT 0.692 2 4 --- --- --- ---