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 TERT 0 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 ENST00000310581.5 - 4 1862 c.1805C>T c.(1804-1806)tCg>tTg p.S602L TERT_ENST00000508104.2_Missense_Mutation_p.S602L|TERT_ENST00000334602.6_Missense_Mutation_p.S602L|TERT_ENST00000296820.5_Missense_Mutation_p.S602L NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 602 anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|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 KRTAP4-7 100132476 broad.mit.edu 37 17 39240908 39240908 + Silent SNP T T 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.chr17:39240908T>C ENST00000391417.4 + 1 450 c.450T>C c.(448-450)tgT>tgC p.C150C NM_033061.3 NP_149050.3 keratin associated protein 4-7 p.C150C(1) NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CCTTGTGCTGTGCCTCCTCTT 0.607000 3 17 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23898270 23898270 + 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.chr14:23898270C>T ENST00000355349.3 - 14 1463 c.1301G>A c.(1300-1302)aGg>aAg p.R434K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 434 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GTTGAACATCCTCTCATACAC 0.542000 4 172 0 0 1 0 0 EPHB6 0 broad.mit.edu 37 7 142561867 142561867 + 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.chr7:142561867G>A ENST00000392957.2 + 7 1096 c.309G>A c.(307-309)gcG>gcA p.A103A EPHB6_ENST00000442129.1_Silent_p.A103A|EPHB6_ENST00000411471.2_Intron NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 103 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) CCCAGAGGGCGCACATTCGAC 0.647000 5 307 0 0 1 0 0 SLC12A4 6560 broad.mit.edu 37 16 67986272 67986272 + Silent 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 ENST00000422611.2 - 6 777 c.738G>A c.(736-738)tcG>tcA p.S246S SLC12A4_ENST00000572037.1_Silent_p.S196S|SLC12A4_ENST00000537830.2_Silent_p.S238S|SLC12A4_ENST00000576616.1_Silent_p.S244S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000338335.3_Silent_p.S244S|SLC12A4_ENST00000541864.2_Silent_p.S213S|SLC12A4_ENST00000316341.3_Silent_p.S244S NM_001145962.1 NP_001139434.1 Q9UP95 S12A4_HUMAN solute carrier family 12 (potassium/chloride transporter), member 4 244 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 CKM 1158 broad.mit.edu 37 19 45810133 45810133 + 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.chr19:45810133G>A ENST00000221476.3 - 8 1195 c.1021C>T c.(1021-1023)Cgg>Tgg p.R341W NM_001824.4 NP_001815.2 P06732 KCRM_HUMAN creatine kinase, muscle 341 Phosphagen kinase C-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2) 17 Ovarian(192;0.0336)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07) Creatine(DB00148) GAGCCCAGCCGATCAGCGTTG 0.577000 4 293 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053142 85053142 + RNA 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.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 10 9 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110494282 110494282 + 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.chrX:110494282G>A ENST00000324068.1 - 8 1188 c.1021C>T c.(1021-1023)Cgc>Tgc p.R341C CAPN6_ENST00000541758.1_Missense_Mutation_p.R86C NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 341 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 TTCACATTGCGGCAGACATTC 0.463000 9 738 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 ENST00000396825.3 - 2 553 c.533C>T c.(532-534)aCg>aTg p.T178M NM_001080472.1 NP_001073941.1 Q8N6M3 FITM2_HUMAN fat storage-inducing transmembrane protein 2 178 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 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 ENST00000598504.1 - 8 2008 c.649G>A c.(649-651)Ggg>Agg p.G217R SLC1A6_ENST00000430939.2_Missense_Mutation_p.G153R|SLC1A6_ENST00000221742.3_Missense_Mutation_p.G217R|SLC1A6_ENST00000600144.1_Missense_Mutation_p.G217R|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G217R NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 217 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate 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 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T T 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.chr19:12501446T>C ENST00000419318.1 - 4 2419 c.1670A>G c.(1669-1671)gAa>gGa p.E557G CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G Q96GE5 ZN799_HUMAN zinc finger protein 799 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCCTTACATTCATACGGGTT 0.413000 4 96 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 ENST00000321617.3 - 18 2761 c.2175C>T c.(2173-2175)agC>agT p.S725S CASKIN2_ENST00000433559.2_Silent_p.S643S NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 725 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 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 ENST00000322723.4 - 3 470 c.230C>T c.(229-231)cCa>cTa p.P77L NM_005381.2 NP_005372.2 P19338 NUCL_HUMAN nucleolin 77 8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X. angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA 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 ENST00000278070.2 + 4 626 c.587G>A c.(586-588)aGt>aAt p.S196N PPRC1_ENST00000413464.2_Missense_Mutation_p.S196N NM_015062.3 NP_055877.3 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator-related 1 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA 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 ENST00000324170.3 - 4 360 c.294C>T c.(292-294)gcC>gcT p.A98A ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000509437.1_Silent_p.A120A|ZCCHC10_ENST00000355372.2_Silent_p.A114A|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_Silent_p.A84A NM_017665.1 NP_060135.1 Q8TBK6 ZCH10_HUMAN zinc finger, CCHC domain containing 10 120 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 AC093642.5 0 broad.mit.edu 37 2 243061183 243061183 + RNA 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.chr2:243061183C>T ENST00000456398.1 + 0 531 ATTCAAGATACCCGAAGGTTC 0.358000 6 135 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 ENST00000561457.1 - 2 611 c.161C>T c.(160-162)gCg>gTg p.A54V C9orf69_ENST00000418388.1_Silent_p.R29R NM_152833.2 NP_690046.3 chromosome 9 open reading frame 69 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 PRAMEF11 440560 broad.mit.edu 37 1 12887612 12887612 + Missense_Mutation SNP T T C rs60558629 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.chr1:12887612T>C ENST00000535591.1 - 3 440 c.245A>G c.(244-246)cAt>cGt p.H82R NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 82 p.H82R(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GAAGCACCCATGGGCCATAGC 0.488000 4 314 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414379 20414379 + 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.chr9:20414379G>A ENST00000380338.4 - 5 751 c.465C>T c.(463-465)agC>agT p.S155S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 155 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S155S(4) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctactgctgctgctgc 0.532000 T MLL ALL 4 23 0 0 1 0 0 ELL2 22936 broad.mit.edu 37 5 95297410 95297410 + Missense_Mutation SNP T T 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.chr5:95297410T>C ENST00000237853.4 - 1 365 c.16A>G c.(16-18)Aca>Gca p.T6A ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Missense_Mutation_p.T6A NM_012081.5 NP_036213.2 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 6 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 24 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) AGGCCCCCTGTCCCCCCCGCC 0.711000 7 46 0 0 1 0 0 TSPAN4 0 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 ENST00000397404.1 + 5 533 c.274C>G c.(274-276)Ctg>Gtg p.L92V TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V NM_001025237.1 NP_001020408.1 O14817 TSN4_HUMAN tetraspanin 4 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 ZC3H11A 9877 broad.mit.edu 37 1 203821424 203821424 + Missense_Mutation SNP T T 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.chr1:203821424T>C ENST00000545588.1 + 17 6157 c.2330T>C c.(2329-2331)aTa>aCa p.I777T ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 777 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) GAGAAACTAATATGGGAGATT 0.473000 5 77 0 0 1 0 0 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 ENST00000257863.4 + 4 557 c.477G>C c.(475-477)ctG>ctC p.L159L AMHR2_ENST00000550311.1_Silent_p.L159L|AMHR2_ENST00000379791.3_Silent_p.L159L NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 159 Mullerian duct regression ATP binding|hormone binding|metal ion binding 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 PRAMEF11 440560 broad.mit.edu 37 1 12887606 12887606 + Missense_Mutation SNP C C G rs58074988 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.chr1:12887606C>G ENST00000535591.1 - 3 446 c.251G>C c.(250-252)tGc>tCc p.C84S NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 84 p.C84S(1) NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 ATTGAGGAAGCACCCATGGGC 0.483000 3 302 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 ENST00000308482.9 + 18 1327 c.1258G>T c.(1258-1260)Gta>Tta p.V420L LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron NM_001137550.1 NP_001131022.1 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 288 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 8.43275e-48 8.66066e-48 1 1 0 MLLT3 4300 broad.mit.edu 37 9 20414340 20414340 + 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.chr9:20414340G>A ENST00000380338.4 - 5 790 c.504C>T c.(502-504)agC>agT p.S168S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 168 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S168S(5) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctgctactgctgc 0.537000 T MLL ALL 4 31 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes 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.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 50 0 0 1 0 0 RBM45 129831 broad.mit.edu 37 2 178988920 178988920 + Frame_Shift_Del DEL A 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.chr2:178988920delA ENST00000286070.5 + 8 1227 c.1135delA c.(1135-1137)aafs p.K381fs NM_152945.2 NP_694453.2 Q8IUH3 RBM45_HUMAN RNA binding motif protein 45 383 cell differentiation|nervous system development cytoplasm|nucleus nucleotide binding|RNA binding p.A382fs*7(2)|p.?(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037) TCCATCATGCAAAAAAAAAGC 0.353 8 109 --- --- --- --- 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 ENST00000273654.4 - 14 1855 c.1236delG c.(1234-1236)ctfs p.L412fs CCDC39_ENST00000442201.2_Frame_Shift_Del_p.L328fs Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 328 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 --- --- --- --- RGS12 6002 broad.mit.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A 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.chr4:3430399delA ENST00000336727.3 + 16 4430 c.3526delA c.(3526-3528)aafs p.K1178fs RGS12_ENST00000306648.7_Intron|RGS12_ENST00000538395.1_Intron|RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000344733.5_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1178 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AAAGATTGGGAAAAAAAAATA 0.328 7 96 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes 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.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 2 4 --- --- --- --- ROBO3 64221 broad.mit.edu 37 11 124750448 124750453 + In_Frame_Del DEL CGGAGT CGGAGT - rs55725290 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.chr11:124750448_124750453delCGGAGT ENST00000397801.1 + 27 4285_4290 c.4093_4098delCGGAGT c.(4093-4098)del p.RS1367del ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 1367 axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) TGgccggagccggagtcggagtcaga 0.660 4 2 --- --- --- --- BCL11B 64919 broad.mit.edu 37 14 99641544 99641546 + In_Frame_Del DEL CTC CTC - 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.chr14:99641544_99641546delCTC ENST00000345514.2 - 3 1680_1682 c.1414_1416delGAG c.(1414-1416)del p.E472del BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 543 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) CCAGTAGCAGctcctcctcctcc 0.700 T TLX3 T-ALL 4 6 --- --- --- --- 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 ENST00000375222.3 + 2 347_348 c.285_286insCTG c.(283-288)gttgct>gtCTGtgct p.95_96VA>VCA NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron NM_080825.3 NP_543015.1 Q9BQM9 CT144_HUMAN chromosome 20 open reading frame 144 95 lung(1) 1 GGATGCCGGTACTGCTGCTGCT 0.748 6 6 --- --- --- --- MAGEC1 9947 broad.mit.edu 37 X 140994114 140994116 + In_Frame_Del DEL CTC CTC - rs141900922 byFrequency 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.chrX:140994114_140994116delCTC ENST00000285879.4 + 4 1210_1212 c.924_926delCTC c.(922-927)agc>ag p.SS312del MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 312 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCCTGTGAGCTCCTCCTCCTCC 0.483 HNSCC(15;0.026) 7 502 --- --- --- ---