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 CCDC150 284992 broad.mit.edu 37 2 197521710 197521710 + Missense_Mutation SNP A A G TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr2:197521710A>G ENST00000389175.4 + 4 561 c.426A>G c.(424-426)atA>atG p.I142M CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_Missense_Mutation_p.I39M|CCDC150_ENST00000423093.2_Intron NM_001080539.1 NP_001074008.1 Q8NCX0 CC150_HUMAN coiled-coil domain containing 150 142 breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TGAATGCAATACAGGAAGAGC 0.453000 7 14 0 0 1 0 0 MOGAT1 116255 broad.mit.edu 37 2 223559867 223559867 + Missense_Mutation SNP A A G TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr2:223559867A>G ENST00000446656.3 + 5 713 c.713A>G c.(712-714)aAc>aGc p.N238S NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 238 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) CAAACTGACAACCCTGAAGGA 0.423000 7 24 0 0 1 0 0 RGPD3 653489 broad.mit.edu 37 2 107049631 107049631 + Silent SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr2:107049631C>T ENST00000409886.3 - 16 2403 c.2316G>A c.(2314-2316)gcG>gcA p.A772A RGPD3_ENST00000304514.7_Silent_p.A772A NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 772 intracellular transport binding p.A772A(4) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TTTCTGAATCCGCATTTCGCA 0.373000 5 184 0 0 1 0 0 GCOM1 0 broad.mit.edu 37 15 57910316 57910316 + Missense_Mutation SNP A A T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr15:57910316A>T ENST00000574161.1 + 3 367 c.248A>T c.(247-249)cAg>cTg p.Q83L GCOM1_ENST00000572390.1_Missense_Mutation_p.Q83L|GCOM1_ENST00000587652.1_Missense_Mutation_p.Q83L|GCOM1_ENST00000380568.3_Missense_Mutation_p.Q83L|GCOM1_ENST00000380561.2_Missense_Mutation_p.Q83L|MYZAP_ENST00000267853.5_Missense_Mutation_p.Q83L|MYZAP_ENST00000380565.4_Missense_Mutation_p.Q83L|GCOM1_ENST00000396180.1_Missense_Mutation_p.Q83L|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000380569.2_Missense_Mutation_p.Q83L|GCOM1_ENST00000380560.2_Missense_Mutation_p.Q83L NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 83 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 GATCAAAATCAGCAGAAAGAA 0.448000 16 53 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10549033 10549033 + Missense_Mutation SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr17:10549033C>T ENST00000583535.1 - 12 1219 c.1132G>A c.(1132-1134)Ggc>Agc p.G378S MYH3_ENST00000226209.7_Missense_Mutation_p.G378S NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 378 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CCTTCTGTGCCATCCGGCTCG 0.527000 9 53 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52682417 52682417 + Silent SNP T T G TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr3:52682417T>G ENST00000356770.4 - 7 758 c.756A>C c.(754-756)atA>atC p.I252I PBRM1_ENST00000409057.1_Silent_p.I252I|PBRM1_ENST00000410007.1_Silent_p.I252I|PBRM1_ENST00000409767.1_Silent_p.I252I|PBRM1_ENST00000409114.3_Silent_p.I252I|PBRM1_ENST00000394830.3_Silent_p.I252I|PBRM1_ENST00000337303.4_Silent_p.I252I|PBRM1_ENST00000296302.7_Silent_p.I252I Q86U86 PB1_HUMAN polybromo 1 252 Bromo 2. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.D251fs*31(3)|p.M248fs*9(2) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CGAGGAGATCTATATCTTTGG 0.338000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 5 65 0 0 1 0 0 ABCD2 225 broad.mit.edu 37 12 40010812 40010812 + Silent SNP A A C TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr12:40010812A>C ENST00000308666.3 - 2 1233 c.1098T>G c.(1096-1098)acT>acG p.T366T NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 366 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 AGCCAGTTGCAGTGATAATAG 0.338000 11 95 0 0 1 0 0 CYSLTR1 0 broad.mit.edu 37 X 77528836 77528836 + Silent SNP T T G TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chrX:77528836T>G ENST00000373304.3 - 3 700 c.408A>C c.(406-408)acA>acC p.T136T NM_006639.2 NP_006630.1 Q9Y271 CLTR1_HUMAN cysteinyl leukotriene receptor 1 136 elevation of cytosolic calcium ion concentration|respiratory gaseous exchange integral to plasma membrane|membrane fraction leukotriene receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549) CTTTTTTCTGTGTAACCAAAT 0.363000 14 13 0 0 1 0 0 BEST2 54831 broad.mit.edu 37 19 12864107 12864107 + Silent SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr19:12864107C>T ENST00000549706.1 + 3 510 c.186C>T c.(184-186)ttC>ttT p.F62F BEST2_ENST00000042931.1_Silent_p.F62F|BEST2_ENST00000553030.1_Silent_p.F62F Q8NFU1 BEST2_HUMAN bestrophin 2 62 membrane depolarization|sensory perception of smell chloride channel complex|cilium|plasma membrane chloride channel activity breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 12 AGCGCTACTTCGAGAAGCTTG 0.557000 9 94 0 0 1 0 0 CCDC146 57639 broad.mit.edu 37 7 76888375 76888375 + Missense_Mutation SNP C C T rs141122498 byFrequency TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr7:76888375C>T ENST00000285871.4 + 7 875 c.748C>T c.(748-750)Cgc>Tgc p.R250C CCDC146_ENST00000431197.1_5'UTR NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 250 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AAAAATAACACGCAAAAAAGT 0.348000 8 35 0 0 1 0 0 TRMT44 152992 broad.mit.edu 37 4 8467104 8467104 + Splice_Site SNP G G A TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr4:8467104G>A ENST00000389737.4 + 8 1310 c.e8-1 TRMT44_ENST00000513449.2_Splice_Site NM_152544.2 NP_689757.2 tRNA methyltransferase 44 homolog (S. cerevisiae) TCTTTTTGAAGGTCTTCCTAC 0.488000 12 97 0 0 1 0 0 POLR2C 5432 broad.mit.edu 37 16 57496641 57496641 + Missense_Mutation SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr16:57496641C>T ENST00000219252.5 + 1 343 c.5C>T c.(4-6)cCg>cTg p.P2L POLR2C_ENST00000564651.1_3'UTR|AC009052.12_ENST00000567090.1_RNA NM_032940.2 NP_116558.1 P19387 RPB3_HUMAN polymerase (RNA) II (DNA directed) polypeptide C, 33kDa 2 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 10 GGCGAGATGCCGTACGCCAAC 0.652000 OREG0023826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 3 0 0 1 0 0 OPCML 4978 broad.mit.edu 37 11 132307147 132307147 + Silent SNP G G A TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr11:132307147G>A ENST00000331898.7 - 4 1211 c.633C>T c.(631-633)ccC>ccT p.P211P OPCML_ENST00000541867.1_Silent_p.P211P|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Silent_p.P170P|OPCML_ENST00000524381.1_Silent_p.P204P NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 211 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TCCGCACATCGGGCGCAGCGA 0.537000 4 69 0 0 1 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43627707 43627707 + Missense_Mutation SNP A A G TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr9:43627707A>G ENST00000332857.6 - 4 1008 c.980T>C c.(979-981)gTc>gCc p.V327A NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 TATCCCCACGACATTCTGGCC 0.458000 8 262 0 0 1 0 0 GOLGA6L5 0 broad.mit.edu 37 15 85053124 85053124 + RNA SNP G G T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr15:85053124G>T ENST00000414190.2 - 0 328 NR_003246.2 TAAATGTTTTGTTTTTTTTTT 0.353000 4 7 1 1 1 1 0 GZMH 2999 broad.mit.edu 37 14 25076563 25076563 + Missense_Mutation SNP G G C TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr14:25076563G>C ENST00000216338.4 - 4 433 c.389C>G c.(388-390)cCt>cGt p.P130R RP11-104E19.1_ENST00000557736.1_RNA|RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron NM_033423.3 NP_219491.1 P20718 GRAH_HUMAN granzyme H (cathepsin G-like 2, protein h-CCPX) 130 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1) 12 GBM - Glioblastoma multiforme(265;0.0267) CTTGCTGCTAGGTAGCCTGAG 0.582000 6 42 0 0 1 0 0 USP48 84196 broad.mit.edu 37 1 22048218 22048218 + Missense_Mutation SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr1:22048218C>T ENST00000308271.9 - 13 2336 c.1688G>A c.(1687-1689)cGc>cAc p.R563H USP48_ENST00000374732.3_Missense_Mutation_p.R102H|USP48_ENST00000400301.1_Missense_Mutation_p.R563H|USP48_ENST00000529637.1_Missense_Mutation_p.R562H NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 563 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity p.R563H(1) NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) ACGCAATATGCGACAACGTTC 0.363000 6 57 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994960 140994960 + Silent SNP G G A TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chrX:140994960G>A ENST00000285879.4 + 4 2056 c.1770G>A c.(1768-1770)ctG>ctA p.L590L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 590 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) AGGACTCCCTGTCTCCTCACT 0.567000 HNSCC(15;0.026) 5 152 0 0 1 0 0 ADAM21P1 0 broad.mit.edu 37 14 70714259 70714259 + RNA SNP A A G rs7144638 by1000genomes TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr14:70714259A>G ENST00000530196.1 - 0 259 NR_003951.1 CACCACTTCCAGGGAAGTGAA 0.527000 4 88 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48629869 48629869 + Silent SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr3:48629869C>T ENST00000328333.8 - 8 1115 c.1008G>A c.(1006-1008)caG>caA p.Q336Q COL7A1_ENST00000454817.1_Silent_p.Q336Q NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 336 Fibronectin type-III 2.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGTGGTATTCTGGATGGTCA 0.627000 9 23 0 0 1 0 0 NEIL1 79661 broad.mit.edu 37 15 75644728 75644728 + Splice_Site SNP G G A TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr15:75644728G>A ENST00000564784.1 + 5 1247 c.618_splice c.e5+1 p.P206_splice NEIL1_ENST00000569035.1_Splice_Site_p.P206_splice|NEIL1_ENST00000355059.4_Splice_Site_p.P206_splice|NEIL1_ENST00000567959.1_3'UTR Q96FI4 NEIL1_HUMAN nei endonuclease VIII-like 1 (E. coli) 206 base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress cytoplasm|nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1) 13 AGCACAGGCCGGTAAGCCCAG 0.642000 Base excision repair (BER), DNA glycosylases 3 43 0 0 1 0 0 ALS2CL 259173 broad.mit.edu 37 3 46718435 46718435 + Missense_Mutation SNP G G A TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr3:46718435G>A ENST00000318962.4 - 17 1918 c.1835C>T c.(1834-1836)gCt>gTt p.A612V ALS2CL_ENST00000383742.3_5'UTR|ALS2CL_ENST00000415953.1_Missense_Mutation_p.A612V NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 612 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GGGGCAGCCAGCACACACAAA 0.662000 10 56 0 0 1 0 0 UBBP4 0 broad.mit.edu 37 17 21730916 21730916 + Missense_Mutation SNP G G T rs111245273 by1000genomes TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr17:21730916G>T ENST00000584755.1 + 2 615 c.218G>T c.(217-219)cGg>cTg p.R73L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L p.R73L(24) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCGGAGAGGTGGT 0.552000 4 67 1.23904e-05 1.29804e-05 1 1 0 TIE1 7075 broad.mit.edu 37 1 43783268 43783268 + Missense_Mutation SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr1:43783268C>T ENST00000372476.3 + 16 2733 c.2654C>T c.(2653-2655)gCg>gTg p.A885V TIE1_ENST00000433781.2_Missense_Mutation_p.A530V|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 885 Protein kinase. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGTGACTTTGCGGGAGAACTG 0.502000 6 201 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25887055 25887055 + Silent SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr10:25887055C>T ENST00000376351.3 + 11 2859 c.2500C>T c.(2500-2502)Cta>Tta p.L834L GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 834 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GTCCAGTAGCCTACCCACAGA 0.468000 4 61 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13606319 13606319 + Silent SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr4:13606319C>T ENST00000040738.5 - 10 2340 c.2205G>A c.(2203-2205)tcG>tcA p.S735S NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 735 Lys-rich. DNA binding p.S735S(1) ATTTGTCTTCCGATGGAGTTT 0.363000 8 43 0 0 1 0 0 NBN 4683 broad.mit.edu 37 8 90955507 90955507 + Nonsense_Mutation SNP C C A TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr8:90955507C>A ENST00000265433.3 - 14 2312 c.2158G>T c.(2158-2160)Gaa>Taa p.E720* NBN_ENST00000409330.1_Nonsense_Mutation_p.E638* NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 720 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) AGCCACTCTTCTAGTTCTGTA 0.418000 Homologous recombination 14 53 2.32078e-09 2.61832e-09 1 1 0 HLA-A 3105 broad.mit.edu 37 6 29910693 29910693 + Missense_Mutation SNP A A G rs41559716 by1000genomes TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr6:29910693A>G ENST00000396634.1 + 4 574 c.233A>G c.(232-234)cAg>cGg p.Q78R HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R P30443 1A01_HUMAN major histocompatibility complex, class I, A 78 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity p.Q78R(2) central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TGGATAGAGCAGGAGGGGCCG 0.657000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 5 26 0 0 1 0 0 DFFA 1676 broad.mit.edu 37 1 10523512 10523512 + Missense_Mutation SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr1:10523512C>T ENST00000377038.3 - 4 674 c.607G>A c.(607-609)Ggc>Agc p.G203S DFFA_ENST00000377036.2_Missense_Mutation_p.G203S NM_004401.2 NP_004392.1 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha polypeptide 203 DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding large_intestine(3)|lung(2) 5 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) AAGAGGCTGCCCTCTTTCTCC 0.557000 15 59 0 0 1 0 0 RP1-37N7.4 0 broad.mit.edu 37 17 18343741 18343741 + RNA SNP G G A TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr17:18343741G>A ENST00000580052.1 + 0 43 KRT16P1_ENST00000581027.1_RNA ACCTGGAAGTGAAGATCCGTG 0.587000 3 42 0 0 1 0 0 SMARCC1 6599 broad.mit.edu 37 3 47663719 47663719 + Missense_Mutation SNP A A T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr3:47663719A>T ENST00000254480.5 - 25 2878 c.2759T>A c.(2758-2760)aTc>aAc p.I920N SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 920 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) TCTGTCCATGATAGTTTCCAG 0.353000 28 82 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873537 36873537 + Nonsense_Mutation SNP T T A TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr3:36873537T>A ENST00000301807.6 - 21 7652 c.5755A>T c.(5755-5757)Aag>Tag p.K1919* TRANK1_ENST00000429976.2_Nonsense_Mutation_p.K2469*|TRANK1_ENST00000428977.2_Nonsense_Mutation_p.K1919* NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2469 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GTCACGTCCTTGGGTTTGTAT 0.483000 18 41 0 0 1 0 0 GRIA1 0 broad.mit.edu 37 5 153056637 153056637 + Silent SNP T T G TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr5:153056637T>G ENST00000285900.5 + 7 1288 c.945T>G c.(943-945)tcT>tcG p.S315S GRIA1_ENST00000518783.1_Silent_p.S325S|GRIA1_ENST00000518142.1_Silent_p.S235S|GRIA1_ENST00000340592.5_Silent_p.S315S|GRIA1_ENST00000448073.4_Silent_p.S325S|GRIA1_ENST00000521843.2_Silent_p.S246S NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 315 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTGATATATCTCGCCGGGGGA 0.567000 4 19 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171250040 171250040 + Missense_Mutation SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr1:171250040C>T ENST00000354841.4 + 5 874 c.743C>T c.(742-744)cCa>cTa p.P248L FMO1_ENST00000367750.3_Missense_Mutation_p.P248L|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.P185L Q01740 FMO1_HUMAN flavin containing monooxygenase 1 248 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AATTCCCTCCCAACCCCAATT 0.463000 5 67 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26705329 26705329 + Silent SNP C C A TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr2:26705329C>A ENST00000272371.2 - 14 1650 c.1524G>T c.(1522-1524)gtG>gtT p.V508V OTOF_ENST00000403946.3_Silent_p.V508V NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 508 C2 2. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCCGATGGCCACGTCGTTGA 0.587000 5 105 1.024e-07 1.1264e-07 1 1 0 ATP13A5 344905 broad.mit.edu 37 3 193080381 193080381 + Missense_Mutation SNP G G T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr3:193080381G>T ENST00000342358.4 - 4 547 c.430C>A c.(430-432)Ctg>Atg p.L144M NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 144 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CGCTTCTCCAGGTCGTTCCAA 0.448000 27 132 1.42536e-11 1.65041e-11 1 1 0 LRPAP1 4043 broad.mit.edu 37 4 3526676 3526676 + Missense_Mutation SNP C C T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr4:3526676C>T ENST00000500728.2 - 2 453 c.307G>A c.(307-309)Gaa>Aaa p.E103K LRPAP1_ENST00000296325.5_5'UTR NM_002337.3 NP_002328.1 P30533 AMRP_HUMAN low density lipoprotein receptor-related protein associated protein 1 103 negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport cell surface|integral to membrane|plasma membrane asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.165) TCCCCATCTTCGTCCAAGCCG 0.517000 50 324 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121228543 121228543 + Silent SNP C C A TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr3:121228543C>A ENST00000264233.5 - 12 1952 c.1824G>T c.(1822-1824)gtG>gtT p.V608V NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 608 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TTGGATGATACACCTTTCCTG 0.393000 DNA polymerases (catalytic subunits) 14 63 1.3612e-06 1.4608e-06 1 1 0 NAB2 4665 broad.mit.edu 37 12 57485457 57485457 + Silent SNP T T C TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr12:57485457T>C ENST00000300131.3 + 2 1011 c.633T>C c.(631-633)ccT>ccC p.P211P NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000357680.4_Silent_p.P211P|NAB2_ENST00000554718.1_3'UTR NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 211 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity p.P211P(3) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TCTCCCCCCCTGCAGGGGGAG 0.711000 5 24 0 0 1 0 0 CYP2A7 1549 broad.mit.edu 37 19 41387540 41387540 + Missense_Mutation SNP G G T rs112051160 TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr19:41387540G>T ENST00000301146.4 - 2 838 c.297C>A c.(295-297)agC>agA p.S99R CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Intron NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 99 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CGCCTCGCCCGCTGAACTCCT 0.642000 3 33 1 1 1 1 0 TTLL8 164714 broad.mit.edu 37 22 50488626 50488626 + Silent SNP A A C TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr22:50488626A>C ENST00000266182.6 - 2 101 c.102T>G c.(100-102)gcT>gcG p.A34A TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Silent_p.A34A tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) TCCTTCGCAGAGCGGCCCGGA 0.483000 5 14 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 89016642 89016642 + Silent SNP G G A TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr14:89016642G>A ENST00000556564.1 - 2 404 c.120C>T c.(118-120)tcC>tcT p.S40S PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.S40S NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 40 FERM. cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TGCTCTCCACGGACAGGGTGA 0.612000 8 62 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42471428 42471428 + Missense_Mutation SNP T T C TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr19:42471428T>C ENST00000545399.1 - 22 3178 c.3025A>G c.(3025-3027)Aaa>Gaa p.K1009E ATP1A3_ENST00000302102.5_Missense_Mutation_p.K996E|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K1007E|ATP1A3_ENST00000602133.1_Missense_Mutation_p.K966E NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 996 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 AGGATGAGTTTGCGGATTTCG 0.662000 4 24 0 0 1 0 0 CCT6P1 0 broad.mit.edu 37 7 65226569 65226569 + RNA DEL T T - TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr7:65226569delT ENST00000442266.1 + 0 1167 gcccggccCCttttttttttt 0.413 2 4 --- --- --- --- RP11-1080G15.1 0 broad.mit.edu 37 8 19043038 19043038 + RNA DEL C C - TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr8:19043038delC ENST00000518417.1 - 0 278 gaggcaccagccggagattag 0.507 2 4 --- --- --- --- ZFHX4 79776 broad.mit.edu 37 8 77775449 77775451 + In_Frame_Del DEL CCT CCT - TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr8:77775449_77775451delCCT ENST00000521891.2 + 11 9947_9949 c.9499_9501delCCT c.(9499-9501)del p.P3173del ZFHX4_ENST00000050961.6_In_Frame_Del_p.P3124del|ZFHX4_ENST00000455469.2_In_Frame_Del_p.P3128del|ZFHX4_ENST00000518282.1_In_Frame_Del_p.P3147del NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3124 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P3151H(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) acctccaccacctcctcctcctc 0.522 HNSCC(33;0.089) 3 6 --- --- --- --- PCF11 51585 broad.mit.edu 37 11 82877721 82877722 + Frame_Shift_Ins INS - - A TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr11:82877721_82877722insA ENST00000298281.4 + 5 2234_2235 c.1782_1783insA c.(1780-1785)gcaaagfs p.AK594fs NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 594 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 CCAAGTCTGCCAAAAGATGGAA 0.356 13 55 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25330470 25330471 + RNA INS - - T TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr15:25330470_25330471insT ENST00000546682.1 + 0 453 SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 CCTTAGGATGGTAAGTGTCCAT 0.480 16 62 --- --- --- --- SNHG14 0 broad.mit.edu 37 15 25465467 25465469 + RNA DEL GAA GAA - TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr15:25465467_25465469delGAA ENST00000424208.1 + 0 3039 SNHG14_ENST00000453082.2_RNA NR_003305.1 TGGTGAGACCGAAGAAGACTTGC 0.581 4 6 --- --- --- --- ZFHX3 463 broad.mit.edu 37 16 72821850 72821850 + Frame_Shift_Del DEL G G - TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr16:72821850delG ENST00000268489.5 - 10 10997 c.10325delC c.(10324-10326)cafs p.P3442fs ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.P2528fs NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3442 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TTCTGCTTCTGGCTCTTCAGG 0.562 11 61 --- --- --- --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A A - TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr17:45219612delA ENST00000066544.3 - 11 1454 c.1361delT c.(1360-1362)cafs p.L454fs CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 454 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 8 58 --- --- --- --- GNAL 2774 broad.mit.edu 37 18 11689860 11689860 + Frame_Shift_Del DEL A A - TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr18:11689860delA ENST00000334049.6 + 1 906 c.298delA c.(298-300)aafs p.K100fs NM_182978.3 NP_892023.1 P38405 GNAL_HUMAN guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type 23 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 GGAGGCGAGGAAAGTGAGCCG 0.697 2 4 --- --- --- --- CPLX4 339302 broad.mit.edu 37 18 56985545 56985545 + Frame_Shift_Del DEL C C - TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr18:56985545delC ENST00000299721.3 - 1 336 c.150delG c.(148-150)aafs p.K50fs CPLX4_ENST00000587244.1_Frame_Shift_Del_p.K50fs NM_181654.3 NP_857637.1 Q7Z7G2 CPLX4_HUMAN complexin 4 50 exocytosis|neurotransmitter transport cell junction|synapse syntaxin binding autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 16 Colorectal(73;0.175) CAATCATTTGCTTTTGATACT 0.408 22 135 --- --- --- --- FAM207A 85395 broad.mit.edu 37 21 46396598 46396598 + Frame_Shift_Del DEL G G - TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr21:46396598delG ENST00000291634.6 + 6 621 c.573delG c.(571-573)gafs p.E193fs FAM207A_ENST00000479127.1_3'UTR|FAM207A_ENST00000397826.3_Frame_Shift_Del_p.E178fs NM_058190.2 NP_478070.1 Q9NSI2 CU070_HUMAN family with sequence similarity 207, member A 193 CTTTCAGCGAGGAAGAAAGGA 0.632 2 4 --- --- --- --- MGC20647 0 broad.mit.edu 37 22 30642384 30642386 + In_Frame_Del DEL GAG GAG - TCGA-XK-AAJR-01A-11D-A41K-08 TCGA-XK-AAJR-10A-01D-A41N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2ea55808-8cd1-4b76-b8ae-1463d5cf3587 4734b728-d63b-4669-988d-eca6c1abb0f6 g.chr22:30642384_30642386delGAG ENST00000593843.1 + 2 200_202 c.200_202delGAG c.(199-204)cga>c p.RG67del LIF_ENST00000249075.3_Intron|LIF_ENST00000403987.3_Intron TGTCCggagcgaggaggaggagg 0.606 2 4 --- --- --- ---