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 AMHR2 269 broad.mit.edu 37 12 53819001 53819001 + Silent SNP G G C TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr12:53819001G>C uc001scx.2 + 3 557 c.477G>C c.(475-477)ctG>ctC p.L159L AMHR2_uc009zmy.2_Silent_p.L159L|AMHR2_uc021qyg.1_Silent_p.L159L NM_020547 NP_065434 Q16671 AMHR2_HUMAN Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA. 159 Mullerian duct regression ATP binding|hormone binding|metal ion binding p.L158L(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) TCCTCCTCCTGCTGCTGCTGG 0.587000 3 169 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1280418 1280418 + Missense_Mutation SNP G G A TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr5:1280418G>A uc003jcb.1 - 3 1863 c.1805C>T c.(1804-1806)tCg>tTg p.S602L TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.S602L|TERT_uc003jca.1_Missense_Mutation_p.S602L|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.S54L NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 602 DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CTCTGCTTCCGACAGCTCCCG 0.632000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 5 82 0 0 1 0 0 FITM2 128486 broad.mit.edu 37 20 42935521 42935521 + Missense_Mutation SNP G G A rs138125328 TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr20:42935521G>A uc002xlr.1 - 1 634 c.533C>T c.(532-534)aCg>aTg p.T178M NM_001080472 NP_001073941 Q8N6M3 FITM2_HUMAN Homo sapiens fat storage-inducing transmembrane protein 2 (FITM2), mRNA. 178 cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process integral to endoplasmic reticulum membrane endometrium(2)|lung(2)|skin(2) 6 GCTTCGGTCCGTCTTCACCTC 0.542000 3 78 0 0 1 0 0 C9orf69 90120 broad.mit.edu 37 9 139008660 139008660 + Missense_Mutation SNP G G A TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr9:139008660G>A uc004cgx.4 - 1 612 c.161C>T c.(160-162)gCg>gTg p.A54V C9orf69_uc004cgy.2_Non-coding_Transcript NM_152833 NP_690046 Homo sapiens chromosome 9 open reading frame 69 (C9orf69), mRNA. endometrium(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06) GGTGGGAGGCGCGCACGGGCC 0.667000 12 20 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498980 73498980 + Silent SNP G G A TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr17:73498980G>A uc002joc.3 - 17 2725 c.2175C>T c.(2173-2175)agC>agT p.S725S CASKIN2_uc010wsc.2_Silent_p.S643S NM_020753 NP_001136115 Q8WXE0 CSKI2_HUMAN Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA. 725 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CCTGGGGGGGGCTGGGATCTC 0.647000 3 57 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67986272 67986272 + Missense_Mutation SNP C C T TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr16:67986272C>T uc010cew.1 - 7 889 c.497G>A c.(496-498)cGa>cAa p.R166Q SLC12A4_uc010ceu.2_Silent_p.S238S|SLC12A4_uc010vkh.1_Silent_p.S213S|SLC12A4_uc002euz.2_Silent_p.S244S|SLC12A4_uc010vki.1_Silent_p.S244S|SLC12A4_uc010vkj.1_Silent_p.S246S|SLC12A4_uc002eva.2_Silent_p.S244S|SLC12A4_uc002evb.2_Non-coding_Transcript Q9UP95 S12A4_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 5, mRNA. 0 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) AAGTGGCATTCGACGTGTCAT 0.453000 48 85 0 0 1 0 0 LRRFIP1 9208 broad.mit.edu 37 2 238667405 238667405 + Missense_Mutation SNP G G T TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr2:238667405G>T uc002vxc.3 + 17 1322 c.1258G>T c.(1258-1260)Gta>Tta p.V420L LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxe.3_Intron|LRRFIP1_uc002vxd.3_Intron|LRRFIP1_uc002vxf.3_Intron NM_001137550 NP_001131022 Q32MZ4 LRRF1_HUMAN Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 1, mRNA. 288 negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) CTTTGATTCCGTAAGGAGTGA 0.383000 48 66 0 0 1 0 0 TSPAN4 7106 broad.mit.edu 37 11 864455 864455 + Missense_Mutation SNP C C G TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr11:864455C>G uc001lsd.1 + 4 483 c.274C>G c.(274-276)Ctg>Gtg p.L92V TSPAN4_uc001lse.1_Missense_Mutation_p.L28V|TSPAN4_uc001lsf.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsg.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsh.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsi.1_Missense_Mutation_p.L92V|TSPAN4_uc001lsj.1_Missense_Mutation_p.L92V NM_003271 NP_001020410 O14817 TSN4_HUMAN Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA. 92 protein complex assembly integral to plasma membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCTGCTGCTGCTGGTGTTCCT 0.672000 3 198 0 0 1 0 0 NCL 4691 broad.mit.edu 37 2 232326634 232326634 + Missense_Mutation SNP G G A TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr2:232326634G>A uc002vru.3 - 2 371 c.230C>T c.(229-231)cCa>cTa p.P77L SNORD82_uc010fxw.1_5'Flank NM_005381 NP_005372 P19338 NUCL_HUMAN Homo sapiens nucleolin (NCL), mRNA. 77 8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X. angiogenesis cell cortex|nucleolus|ribonucleoprotein complex RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) TTTCTTGGCTGGTGTGGCAAC 0.512000 4 190 0 0 1 0 0 PPRC1 23082 broad.mit.edu 37 10 103898733 103898733 + Missense_Mutation SNP G G A TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr10:103898733G>A uc001kum.3 + 3 626 c.587G>A c.(586-588)aGt>aAt p.S196N PPRC1_uc001kun.3_Missense_Mutation_p.S76N|PPRC1_uc010qqj.2_Missense_Mutation_p.S196N|PPRC1_uc009xxa.3_5'Flank NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA. 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|nucleotide binding central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) AGTAGAGGGAGTGGGGTAAGC 0.557000 3 86 0 0 1 0 0 ZCCHC10 54819 broad.mit.edu 37 5 132334494 132334494 + Silent SNP G G A TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr5:132334494G>A uc003kyh.3 - 4 371 c.360C>T c.(358-360)gcC>gcT p.A120A ZCCHC10_uc003kyg.3_Silent_p.A98A|ZCCHC10_uc011cxl.2_Silent_p.A84A NM_017665 NP_060135 Q8TBK6 ZCH10_HUMAN Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA. 120 Ser-rich. nucleic acid binding|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AAGAATCACTGGCAGAACTGT 0.438000 48 69 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073100 15073100 + Missense_Mutation SNP C C T TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr19:15073100C>T uc002naa.1 - 4 656 c.649G>A c.(649-651)Ggg>Agg p.G217R SLC1A6_uc010dzu.1_Missense_Mutation_p.G217R|SLC1A6_uc010xod.1_Missense_Mutation_p.G153R|SLC1A6_uc002nab.3_Missense_Mutation_p.G217R|SLC1A6_uc002nac.3_Missense_Mutation_p.G217R NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 217 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) GGCTCAGACCCGTTCTCTGTC 0.552000 55 103 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180370001 180370001 + Frame_Shift_Del DEL C C - TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr3:180370001delC uc010hxe.3 - 7 1099 c.984delG c.(982-984)ctgfs p.L328fs CCDC39_uc003fkn.3_Non-coding_Transcript NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA. 328 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TATTTTTCCTCAGAGCTTCTA 0.274 2 4 --- --- --- --- C20orf144 128864 broad.mit.edu 37 20 32251496 32251497 + In_Frame_Ins INS - - CTG TCGA-FK-A3SE-01A-11D-A22D-08 TCGA-FK-A3SE-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90883300-d4b6-45d7-af9a-4e4ce4104500 3537e160-d1b4-40be-9152-2db2d8ac8a73 g.chr20:32251496_32251497insCTG uc002wzs.2 + 1 345_346 c.285_286insCTG c.(283-288)insCTG p.99_100insL NECAB3_uc002wzl.3_5'Flank|NECAB3_uc002wzm.4_Intron|NECAB3_uc002wzn.4_Intron|NECAB3_uc002wzo.4_Intron|ACTL10_uc002wzt.3_5'Flank NM_080825 NP_543015 Q9BQM9 CT144_HUMAN Homo sapiens chromosome 20 open reading frame 144 (C20orf144), mRNA. 99 lung(1) 1 GGATGCCGGTACTGCTGCTGCT 0.748 6 6 --- --- --- ---