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 LRRC8C 84230 broad.mit.edu 37 1 90180327 90180327 + Missense_Mutation SNP C C G TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr1:90180327C>G ENST00000370454.4 + 3 2453 c.2198C>G c.(2197-2199)aCt>aGt p.T733S LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron NM_032270.4 NP_115646 Q8TDW0 LRC8C_HUMAN leucine rich repeat containing 8 family, member C 733 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) AAACTTAAAACTCTGAAGATT 0.338 4 99 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103540313 103540313 + Missense_Mutation SNP A A T TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr1:103540313A>T ENST00000358392.2 - 4 829 c.512T>A c.(511-513)gTg>gAg p.V171E COL11A1_ENST00000512756.1_Missense_Mutation_p.V171E|COL11A1_ENST00000353414.4_Missense_Mutation_p.V171E|COL11A1_ENST00000370096.3_Missense_Mutation_p.V171E NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 171 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTTCTTCTCCACGCTGATTGC 0.383 25 40 --- --- --- --- RGPD3 653489 broad.mit.edu 37 2 107049681 107049681 + Missense_Mutation SNP T T C TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr2:107049681T>C ENST00000409886.3 - 16 2353 c.2266A>G c.(2266-2268)Aac>Gac p.N756D RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 756 intracellular transport binding p.N756D(6) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCACTATAGTTTTCGAGTTCC 0.373 5 429 --- --- --- --- ORMDL1 94101 broad.mit.edu 37 2 190636618 190636618 + Missense_Mutation SNP C C T TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr2:190636618C>T ENST00000325795.3 - 3 1123 c.337G>A c.(337-339)Gca>Aca p.A113T ORMDL1_ENST00000392350.3_Missense_Mutation_p.A113T|ORMDL1_ENST00000496543.1_5'UTR|ORMDL1_ENST00000392349.4_Missense_Mutation_p.A113T Q9P0S3 ORML1_HUMAN ORM1-like 1 (S. cerevisiae) 113 ceramide metabolic process endoplasmic reticulum membrane|integral to membrane breast(1)|urinary_tract(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889) TAGAAACTTGCCAGAAAATAT 0.328 3 39 --- --- --- --- PASK 23178 broad.mit.edu 37 2 242066448 242066448 + Missense_Mutation SNP G G A TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr2:242066448G>A ENST00000403638.3 - 10 1973 c.1882C>T c.(1882-1884)Ccc>Tcc p.P628S PASK_ENST00000405260.1_Missense_Mutation_p.P628S|PASK_ENST00000234040.4_Missense_Mutation_p.P628S|PASK_ENST00000539818.1_Missense_Mutation_p.P412S|PASK_ENST00000358649.4_Missense_Mutation_p.P628S|PASK_ENST00000544142.1_Missense_Mutation_p.P442S NM_001252124.1 NP_001239053.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 628 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) GAGGGGCTGGGGGCCAAGTCC 0.637 53 44 --- --- --- --- MFI2 4241 broad.mit.edu 37 3 196742335 196742335 + Silent SNP C C T TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr3:196742335C>T ENST00000296350.5 - 9 1247 c.1134G>A c.(1132-1134)aaG>aaA p.K378K NM_005929.5 NP_005920.2 P08582 TRFM_HUMAN antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 378 Transferrin-like 2. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1) 20 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) TGTCTCCACACTTCTGGATCT 0.657 6 6 --- --- --- --- DCHS2 54798 broad.mit.edu 37 4 155254287 155254287 + Missense_Mutation SNP C C T TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr4:155254287C>T ENST00000357232.4 - 9 1575 c.1576G>A c.(1576-1578)Gtc>Atc p.V526I DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.V1025I NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATGGCAAAGACGCCTGGCTGC 0.677 17 29 --- --- --- --- DDX46 9879 broad.mit.edu 37 5 134152276 134152276 + Silent SNP T T C TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr5:134152276T>C ENST00000452510.2 + 19 2751 c.2593T>C c.(2593-2595)Ttg>Ctg p.L865L DDX46_ENST00000354283.4_Silent_p.L865L NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 865 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCAGAAGAATTTGGGCATCGA 0.373 36 45 --- --- --- --- PCDHB6 56130 broad.mit.edu 37 5 140531920 140531920 + Silent SNP G G A TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr5:140531920G>A ENST00000231136.1 + 1 2082 c.2082G>A c.(2080-2082)tcG>tcA p.S694S PCDHB6_ENST00000543635.1_Silent_p.S558S NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 694 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTTGGCCTCGGTGTCGTCGC 0.692 77 123 --- --- --- --- PCDHB18P 54660 broad.mit.edu 37 5 140615769 140615769 + RNA SNP G G A TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr5:140615769G>A ENST00000526308.1 + 0 1832 NR_001281.1 endometrium(9)|lung(7)|ovary(1)|urinary_tract(1) 18 GTGCTGGTGCGCGTGCTGGTG 0.701 10 106 --- --- --- --- FILIP1 27145 broad.mit.edu 37 6 76124576 76124576 + Missense_Mutation SNP T T G TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr6:76124576T>G ENST00000393004.2 - 2 334 c.113A>C c.(112-114)aAg>aCg p.K38T FILIP1_ENST00000237172.7_Missense_Mutation_p.K38T Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 38 Poly-Lys. breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TTTCTTCTTCTTTTTTGCATC 0.428 80 92 --- --- --- --- FZD6 8323 broad.mit.edu 37 8 104330852 104330852 + Missense_Mutation SNP C C T TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr8:104330852C>T ENST00000358755.4 + 3 529 c.212C>T c.(211-213)cCa>cTa p.P71L FZD6_ENST00000540287.1_Intron|FZD6_ENST00000522566.1_Missense_Mutation_p.P71L|FZD6_ENST00000523739.1_Missense_Mutation_p.P39L NM_001164616.1|NM_003506.3 NP_001158088.1|NP_003497.2 O60353 FZD6_HUMAN frizzled family receptor 6 71 FZ. angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197) GAATGTTCACCAAACATTGAA 0.308 43 50 --- --- --- --- RNF20 56254 broad.mit.edu 37 9 104314097 104314097 + Silent SNP A A G TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr9:104314097A>G ENST00000389120.3 + 11 1494 c.1404A>G c.(1402-1404)caA>caG p.Q468Q NM_019592.5 NP_062538.5 Q5VTR2 BRE1A_HUMAN ring finger protein 20, E3 ubiquitin protein ligase 468 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) CCAATGAACAAGCAGGTATAA 0.433 31 44 --- --- --- --- SKIDA1 387640 broad.mit.edu 37 10 21804625 21804625 + Silent SNP G G A TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr10:21804625G>A ENST00000449193.2 - 4 4379 c.2127C>T c.(2125-2127)tgC>tgT p.C709C SKIDA1_ENST00000444772.3_Silent_p.C630C NM_207371.3 NP_997254.3 SKI/DACH domain containing 1 CATTGCACTCGCACTTTAGCT 0.393 4 195 --- --- --- --- ZW10 9183 broad.mit.edu 37 11 113639666 113639666 + Missense_Mutation SNP G G C TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr11:113639666G>C ENST00000200135.3 - 2 273 c.129C>G c.(127-129)agC>agG p.S43R NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 43 Interaction with RINT1.|Interaction with ZWINT. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TGTACTTCTTGCTAATCATAT 0.393 35 59 --- --- --- --- NINJ2 4815 broad.mit.edu 37 12 772599 772599 + Silent SNP C C T TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr12:772599C>T ENST00000305108.4 - 1 346 c.66G>A c.(64-66)acG>acA p.T22T RP11-218M22.1_ENST00000543884.1_RNA NM_016533.4 NP_057617.2 Q9NZG7 NINJ2_HUMAN ninjurin 2 0 nervous system development|neuron cell-cell adhesion|tissue regeneration integral to plasma membrane large_intestine(3)|lung(1)|ovary(2) 6 all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185) OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508) CAGGCTCCGCCGTCTGAGTCT 0.612 4 92 --- --- --- --- KIF5A 3798 broad.mit.edu 37 12 57957899 57957899 + Silent SNP G G A TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr12:57957899G>A ENST00000455537.2 + 4 574 c.300G>A c.(298-300)ctG>ctA p.L100L KIF5A_ENST00000286452.5_Intron NM_004984.2 NP_004975.2 Q12840 KIF5A_HUMAN kinesin family member 5A 100 Kinesin-motor. blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2) 62 AGGGAAAGCTGCACGACCCTC 0.498 18 31 --- --- --- --- FAM71C 196472 broad.mit.edu 37 12 100042107 100042107 + Missense_Mutation SNP A A G TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr12:100042107A>G ENST00000324341.1 + 1 577 c.155A>G c.(154-156)cAg>cGg p.Q52R ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 52 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) GACTTTATCCAGATCAGCAAA 0.507 31 64 --- --- --- --- SRRM4 84530 broad.mit.edu 37 12 119592130 119592130 + Missense_Mutation SNP C C A TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr12:119592130C>A ENST00000267260.4 + 12 1862 c.1474C>A c.(1474-1476)Cct>Act p.P492T NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 492 Arg-rich.|Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 GTCCTACTCGCCTATGAGAAA 0.672 6 16 --- --- --- --- ITGAX 3687 broad.mit.edu 37 16 31382406 31382406 + Splice_Site SNP G G A TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr16:31382406G>A ENST00000268296.4 + 15 1833 c.1712G>A c.(1711-1713)cGg>cAg p.R571Q ITGAX_ENST00000562522.1_Splice_Site_p.R571Q NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 571 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 TCTGGCCAGCGGATCGCGGGC 0.562 4 117 --- --- --- --- RABEP1 9135 broad.mit.edu 37 17 5264971 5264971 + Splice_Site SNP G G C TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr17:5264971G>C ENST00000262477.6 + 9 1787 c.e9+1 RABEP1_ENST00000341923.6_Splice_Site|RABEP1_ENST00000546142.2_Splice_Site|RABEP1_ENST00000408982.2_Splice_Site|RABEP1_ENST00000537505.1_Splice_Site|NUP88_ENST00000573169.1_5'UTR NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 GCAGAAAGAGGTGAGTTACCT 0.498 6 9 --- --- --- --- CYP4F3 4051 broad.mit.edu 37 19 15763396 15763396 + Silent SNP G G A TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr19:15763396G>A ENST00000221307.8 + 8 983 c.936G>A c.(934-936)aaG>aaA p.K312K CYP4F3_ENST00000585846.1_Silent_p.K312K|CYP4F3_ENST00000591058.1_Silent_p.K312K|CYP4F3_ENST00000586182.2_Silent_p.K312K NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 ATGGGAAGAAGTTGTCCGATG 0.517 5 119 --- --- --- --- EPB41L1 2036 broad.mit.edu 37 20 34782245 34782245 + Missense_Mutation SNP G G A TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr20:34782245G>A ENST00000338074.2 + 12 1573 c.1412G>A c.(1411-1413)gGa>gAa p.G471E EPB41L1_ENST00000373941.1_Missense_Mutation_p.G471E|EPB41L1_ENST00000373946.3_Missense_Mutation_p.G440E|EPB41L1_ENST00000202028.5_Missense_Mutation_p.G409E|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G374E|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G409E NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 471 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GCTGAGGAGGGAGAGGTCAGG 0.607 4 11 --- --- --- --- SLC12A5 57468 broad.mit.edu 37 20 44671824 44671824 + Missense_Mutation SNP G G A TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr20:44671824G>A ENST00000243964.3 + 9 1197 c.1099G>A c.(1099-1101)Gtg>Atg p.V367M SLC12A5_ENST00000454036.2_Missense_Mutation_p.V390M NM_020708.4 NP_065759.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 390 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GACCAAGGGCGTGATTGTGGA 0.582 77 105 --- --- --- --- MXRA5 25878 broad.mit.edu 37 X 3235405 3235405 + Missense_Mutation SNP G G C TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chrX:3235405G>C ENST00000217939.6 - 6 6471 c.6317C>G c.(6316-6318)aCg>aGg p.T2106R NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2106 Ig-like C2-type 5. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GATGTAGAGCGTCCCGTTGGG 0.677 10 2 --- --- --- --- FANCB 2187 broad.mit.edu 37 X 14883152 14883152 + Missense_Mutation SNP C C A TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chrX:14883152C>A ENST00000398334.1 - 3 748 c.481G>T c.(481-483)Gtt>Ttt p.V161F FANCB_ENST00000324138.3_Missense_Mutation_p.V161F NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 161 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) GACACACTAACAACTTTGCCA 0.393 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 35 8 --- --- --- --- EXOSC10 5394 broad.mit.edu 37 1 11155880 11155881 + Frame_Shift_Ins INS - - T TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr1:11155880_11155881insT ENST00000544779.1 - 3 311_312 c.306_307insA c.(304-309)aaagtgfs p.V103fs EXOSC10_ENST00000376936.4_Frame_Shift_Ins_p.V103fs|EXOSC10_ENST00000304457.7_Frame_Shift_Ins_p.V103fs Q01780 EXOSX_HUMAN exosome component 10 103 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) AGCTCAGTCACTTTACTTCGAT 0.381 74 127 --- --- --- --- OR4P4 81300 broad.mit.edu 37 11 55405837 55405838 + Frame_Shift_Ins INS - - A TCGA-J4-A83I-01A-11D-A364-08 TCGA-J4-A83I-10B-01D-A362-08 Untested Somatic Phase_I WXS none Illumina GAIIx fdeb9e4e-d715-4565-9cb4-40525a0575ad 13d07794-c0fa-4070-9dcd-9cee45840284 g.chr11:55405837_55405838insA ENST00000314612.2 + 1 4_5 c.4_5insA c.(4-6)gaafs p.E2fs NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 CTGGACCATGGAAAAAAGCAAT 0.302 61 28 --- --- --- ---