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 R3HDM1 23518 broad.mit.edu 37 2 136467088 136467088 + Missense_Mutation SNP C C A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr2:136467088C>A ENST00000264160.4 + 21 2810 c.2440C>A c.(2440-2442)Caa>Aaa p.Q814K R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q759K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q685K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q815K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q686K NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 814 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) CCAGCAGCTTCAAGGCCACCA 0.383000 3 39 1 1 1 1 0 C4BPA 722 broad.mit.edu 37 1 207287489 207287489 + Missense_Mutation SNP G G A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr1:207287489G>A ENST00000367070.3 + 3 381 c.187G>A c.(187-189)Gat>Aat p.D63N NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 63 Sushi 1. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TGCCCCGATGGATATTACGTT 0.478000 43 76 0 0 1 0 0 NUPL2 11097 broad.mit.edu 37 7 23236324 23236324 + Missense_Mutation SNP A A G TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr7:23236324A>G ENST00000258742.5 + 5 807 c.548A>G c.(547-549)aAt>aGt p.N183S NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 183 carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CGTTTAATAAATCAATGGAGG 0.323000 22 31 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 442740 442740 + Silent SNP G G C TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr12:442740G>C ENST00000399788.2 - 12 1928 c.1566C>G c.(1564-1566)gcC>gcG p.A522A KDM5A_ENST00000382815.4_Silent_p.A522A NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 522 JmjC. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 ATAACTCGGGGGCCAGCTCTC 0.502000 T NUP98 AML 7 97 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153222180 153222180 + Missense_Mutation SNP G G A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chrX:153222180G>A ENST00000310441.7 - 15 3497 c.2531C>T c.(2530-2532)aCc>aTc p.T844I HCFC1_ENST00000369984.4_Missense_Mutation_p.T844I|HCFC1_ENST00000354233.3_Missense_Mutation_p.T775I NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 844 Interaction with GABP2.|Interaction with ZBTB17. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCGGAGGATGGTGCCTGGCTG 0.647000 40 13 0 0 1 0 0 LRRC14 9684 broad.mit.edu 37 8 145746678 145746678 + Missense_Mutation SNP A A G TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr8:145746678A>G ENST00000292524.1 + 4 1444 c.1298A>G c.(1297-1299)gAc>gGc p.D433G LRRC14_ENST00000529022.1_Missense_Mutation_p.D433G NM_001272036.1|NM_014665.2 NP_001258965.1|NP_055480.1 Q15048 LRC14_HUMAN leucine rich repeat containing 14 433 endometrium(1)|lung(3)|prostate(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TTCCCTGTGGACTGCTATGAG 0.627000 26 45 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7240815 7240815 + Missense_Mutation SNP T T A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr6:7240815T>A ENST00000379938.2 + 11 4490 c.3953T>A c.(3952-3954)gTt>gAt p.V1318D RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.V1318D|RREB1_ENST00000349384.6_Intron NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1272 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GAGAGTGATGTTGGATCCCAT 0.507000 25 22 0 0 1 0 0 STOX1 219736 broad.mit.edu 37 10 70645061 70645061 + Silent SNP A A G TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr10:70645061A>G ENST00000298596.6 + 3 1592 c.1509A>G c.(1507-1509)cgA>cgG p.R503R STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000421961.2_Silent_p.R393R|STOX1_ENST00000399169.4_Silent_p.R503R NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 503 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 TGTCTCACCGAGGAAGCACAA 0.448000 33 47 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39551856 39551856 + Missense_Mutation SNP C C A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr17:39551856C>A ENST00000251645.2 - 4 660 c.608G>T c.(607-609)tGc>tTc p.C203F NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 203 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) TCCAAGCTGGCAGCGCAGGGT 0.517000 20 26 8.34094e-07 8.98255e-07 1 1 0 ADAMTSL1 92949 broad.mit.edu 37 9 18657637 18657637 + Splice_Site SNP A A G TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr9:18657637A>G ENST00000380548.4 + 8 1174 c.834_splice c.e8-1 p.I279_splice ADAMTSL1_ENST00000276935.6_Splice_Site_p.I279_splice|ADAMTSL1_ENST00000327883.7_Splice_Site_p.I279_splice|ADAMTSL1_ENST00000380566.4_Splice_Site_p.I279_splice NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 279 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) ACTCCTGCAGATTCGTAACTC 0.483000 21 21 0 0 1 0 0 ZBTB20 26137 broad.mit.edu 37 3 114058161 114058161 + Silent SNP G G A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr3:114058161G>A ENST00000462705.1 - 12 2519 c.1698C>T c.(1696-1698)tgC>tgT p.C566C ZBTB20_ENST00000481632.1_Silent_p.C566C|ZBTB20_ENST00000464560.1_Silent_p.C566C|ZBTB20_ENST00000393785.2_Silent_p.C566C|ZBTB20_ENST00000471418.1_Silent_p.C566C|ZBTB20_ENST00000357258.3_Silent_p.C566C|ZBTB20_ENST00000474710.1_Silent_p.C639C NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 639 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) AGCGCTTGTTGCAGATACTAC 0.512000 41 54 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120193028 120193028 + Missense_Mutation SNP G G C TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr4:120193028G>C ENST00000450251.1 + 12 2557 c.2013G>C c.(2011-2013)gaG>gaC p.E671D USP53_ENST00000274030.6_Missense_Mutation_p.E671D Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 671 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 GCCTTGTAGAGGGTAAAGTGC 0.393000 4 94 0 0 1 0 0 FAM120C 54954 broad.mit.edu 37 X 54209078 54209078 + Missense_Mutation SNP C C T TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chrX:54209078C>T ENST00000375180.2 - 1 610 c.554G>A c.(553-555)cGt>cAt p.R185H FAM120C_ENST00000477084.1_Missense_Mutation_p.R185H|FAM120C_ENST00000328235.4_Missense_Mutation_p.R185H|FAM120C_ENST00000497680.1_5'UTR NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 185 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CTGGCACCGACGGCCCCACTC 0.721000 5 9 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55800958 55800958 + Missense_Mutation SNP C C T TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr19:55800958C>T ENST00000309383.1 + 4 705 c.428C>T c.(427-429)gCg>gTg p.A143V BRSK1_ENST00000590333.1_Missense_Mutation_p.A159V|BRSK1_ENST00000585418.1_Missense_Mutation_p.A143V NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 143 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) ATTGTGTCTGCGCTGGACTTC 0.622000 23 32 0 0 1 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174926682 174926682 + Missense_Mutation SNP A A G TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr1:174926682A>G ENST00000489615.1 + 3 787 c.386A>G c.(385-387)tAc>tGc p.Y129C RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000392064.2_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000486220.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000251507.4_Missense_Mutation_p.Y810C|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.Y137C|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.Y117C|RABGAP1L_ENST00000478442.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.Y136C NM_001243765.1 NP_001230694.1 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 810 PID. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 ATGGATAGATACAAGGTATGA 0.423000 12 26 0 0 1 0 0 MAL2 114569 broad.mit.edu 37 8 120233832 120233832 + Silent SNP C C T TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr8:120233832C>T ENST00000276681.6 + 3 240 c.138C>T c.(136-138)ttC>ttT p.F46F MAL2_ENST00000521748.1_3'UTR|RP11-4K16.2_ENST00000522828.1_lincRNA NM_052886.2 NP_443118.1 Q969L2 MAL2_HUMAN mal, T-cell differentiation protein 2 (gene/pseudogene) 46 MARVEL. apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000967) TTCAGCTGTTCGGGGGTCTTG 0.428000 48 308 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3318022 3318022 + Missense_Mutation SNP G G T TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr4:3318022G>T ENST00000336727.3 + 2 1029 c.125G>T c.(124-126)tGt>tTt p.C42F RGS12_ENST00000543385.1_Missense_Mutation_p.C42F|RGS12_ENST00000344733.5_Missense_Mutation_p.C42F|RGS12_ENST00000382788.3_Missense_Mutation_p.C42F NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 42 PDZ. 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) CAGGCACCCTGTGTGCTCAGC 0.612000 26 30 1.64293e-13 1.86495e-13 1 1 0 CACNA2D1 781 broad.mit.edu 37 7 81591323 81591323 + Missense_Mutation SNP A A T TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr7:81591323A>T ENST00000356860.3 - 36 3191 c.2853T>A c.(2851-2853)gaT>gaA p.D951E CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D163E|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D963E NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 963 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CCGTGAAGTCATCATCCTCCA 0.483000 22 48 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72398976 72398976 + Missense_Mutation SNP A A G rs147859349 TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr7:72398976A>G ENST00000395270.1 + 7 1322 c.281A>G c.(280-282)aAt>aGt p.N94S POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 359 Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) CTGGTGGCCAATGGAGTCCCC 0.468000 5 199 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139910252 139910252 + Missense_Mutation SNP C C A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr9:139910252C>A ENST00000265662.5 - 23 3536 c.3389G>T c.(3388-3390)cGc>cTc p.R1130L ABCA2_ENST00000371605.3_Missense_Mutation_p.R1129L|ABCA2_ENST00000341511.6_Missense_Mutation_p.R1130L Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1129 ABC transporter 1. cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GGACAGCTTGCGCTTCATGCC 0.672000 30 24 1.30897e-18 1.52713e-18 1 1 0 MED12L 116931 broad.mit.edu 37 3 151085530 151085530 + Missense_Mutation SNP G G A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr3:151085530G>A ENST00000474524.1 + 22 3357 c.3319G>A c.(3319-3321)Gca>Aca p.A1107T P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A967T NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1107 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCATGTCGCACTTCCCTC 0.453000 60 92 0 0 1 0 0 STAT5B 6777 broad.mit.edu 37 17 40354366 40354366 + Silent SNP G G A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr17:40354366G>A ENST00000293328.3 - 18 2397 c.2229C>T c.(2227-2229)taC>taT p.Y743Y NM_012448.3 NP_036580.2 P51692 STA5B_HUMAN signal transducer and activator of transcription 5B 743 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) ACTTCTGTGGGTACATGTTAT 0.632000 9 24 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 34 58 0 0 1 0 0 RAB19 401409 broad.mit.edu 37 7 140125837 140125837 + Missense_Mutation SNP G G A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr7:140125837G>A ENST00000275874.5 + 5 880 c.682G>A c.(682-684)Gcg>Acg p.A228T RAB19_ENST00000356407.3_Missense_Mutation_p.A181T|RAB19_ENST00000537763.1_Missense_Mutation_p.A181T A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 181 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) GGAGCTGATCGCGCGCAACAG 0.572000 24 103 0 0 1 0 0 SPINK7 84651 broad.mit.edu 37 5 147693711 147693711 + Missense_Mutation SNP C C T TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr5:147693711C>T ENST00000274565.4 + 3 197 c.136C>T c.(136-138)Ccc>Tcc p.P46S SPINK7_ENST00000523535.1_Missense_Mutation_p.P20S|SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA NM_032566.2 NP_115955.1 P58062 ISK7_HUMAN serine peptidase inhibitor, Kazal type 7 (putative) 46 Kazal-like. extracellular region protein binding|serine-type endopeptidase inhibitor activity large_intestine(2)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATCCCCTGCCCCATCACATA 0.463000 54 64 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9047644 9047644 + Missense_Mutation SNP G G T TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr19:9047644G>T ENST00000397910.4 - 5 34190 c.33987C>A c.(33985-33987)gaC>gaA p.D11329E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11331 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTGCACTGATGTCTCTCCCAG 0.507000 15 131 4.7546e-09 5.25509e-09 1 1 0 ZBBX 79740 broad.mit.edu 37 3 167039968 167039968 + Missense_Mutation SNP T T C TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr3:167039968T>C ENST00000392766.2 - 12 1260 c.920A>G c.(919-921)aAt>aGt p.N307S ZBBX_ENST00000392764.1_Missense_Mutation_p.N278S|ZBBX_ENST00000307529.5_Missense_Mutation_p.N307S|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.N307S|ZBBX_ENST00000392767.2_Missense_Mutation_p.N307S NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 307 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 AAGTTCAATATTAAGTGGTTC 0.279000 29 46 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 4 105 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151067902 151067902 + Missense_Mutation SNP G G A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr3:151067902G>A ENST00000474524.1 + 15 2239 c.2201G>A c.(2200-2202)gGc>gAc p.G734D P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G594D|MED12L_ENST00000491549.1_3'UTR NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 734 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TATGGAGTCGGCAAAGAGCGT 0.423000 4 211 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577610 7577610 + Splice_Site SNP T T C TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr17:7577610T>C ENST00000420246.2 - 7 805 c.e7-2 TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGAGCCAACCTAGGAGATAAC 0.522000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 44 10 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40901999 40901999 + Missense_Mutation SNP G G A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr19:40901999G>A ENST00000324001.7 - 7 2530 c.2260C>T c.(2260-2262)Cgg>Tgg p.R754W PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 754 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCCGGCAGCCGAATCTCTGAC 0.597000 53 96 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90162462 90162462 + RNA SNP A A G TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr16:90162462A>G ENST00000564451.1 + 0 1815 TUBB8P7_ENST00000567960.1_RNA p.T398T(1) ACTGGTACACAGGCGAGGGCA 0.522000 4 105 0 0 1 0 0 TSKS 60385 broad.mit.edu 37 19 50243411 50243411 + Silent SNP G G A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr19:50243411G>A ENST00000246801.3 - 10 1609 c.1527C>T c.(1525-1527)caC>caT p.H509H TSKS_ENST00000358830.3_Silent_p.H309H NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 509 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CTGCCCTGACGTGTTTGGCTA 0.647000 27 35 0 0 1 0 0 ARPC1A 10552 broad.mit.edu 37 7 98984335 98984335 + Nonstop_Mutation SNP A A T TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr7:98984335A>T ENST00000432884.2 + 13 1499 c.1038A>T c.(1036-1038)tgA>tgT p.*346C ARPC1B_ENST00000451682.1_Missense_Mutation_p.E31V|ARPC1B_ENST00000252725.5_Missense_Mutation_p.E31V|ARPC1B_ENST00000474880.1_3'UTR Q92747 ARC1A_HUMAN actin related protein 2/3 complex, subunit 1A, 41kDa 0 actin cytoskeleton organization|regulation of actin filament polymerization actin cytoskeleton|cytoplasm actin binding endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1) 19 all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258) STAD - Stomach adenocarcinoma(171;0.215) AACAACCATGAGGTGCATATC 0.567000 36 142 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10204939 10204939 + Missense_Mutation SNP C C T TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr17:10204939C>T ENST00000418404.3 - 39 5912 c.5749G>A c.(5749-5751)Gct>Act p.A1917T MYH13_ENST00000252172.4_Missense_Mutation_p.A1917T|MYH13_ENST00000570743.1_Missense_Mutation_p.A1917T Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1917 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGGGACTCAGCGATGTCCGCC 0.602000 4 108 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21986639 21986639 + Missense_Mutation SNP C C A TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr8:21986639C>A ENST00000381418.4 - 2 1525 c.45G>T c.(43-45)gaG>gaT p.E15D HR_ENST00000312841.8_Missense_Mutation_p.E15D NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 15 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GGGCCGTCTTCTCCCAGGTTG 0.657000 4 78 0.150653 0.154328 1 1 0 EPB41L2 2037 broad.mit.edu 37 6 131215489 131215489 + Missense_Mutation SNP G G C TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr6:131215489G>C ENST00000337057.3 - 10 1663 c.1482C>G c.(1480-1482)ttC>ttG p.F494L EPB41L2_ENST00000392427.3_Missense_Mutation_p.F494L|EPB41L2_ENST00000445890.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000529208.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000527659.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525271.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.F494L NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 494 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) ATTACCTGTAGAAAGTATGAT 0.493000 4 160 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154190842 154190842 + Missense_Mutation SNP A A G TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr5:154190842A>G ENST00000336314.4 + 17 2672 c.2648A>G c.(2647-2649)tAt>tGt p.Y883C NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 960 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TACTACAGTTATGGCCTGGAA 0.448000 3 62 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 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 --- --- --- --- LA16c-23H5.4 0 broad.mit.edu 37 22 16419352 16419352 + RNA DEL T T - TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chr22:16419352delT ENST00000444162.1 + 0 279 GAATCGACGATTTTTTTTTTG 0.398 3 4 --- --- --- --- ATRX 546 broad.mit.edu 37 X 76939883 76939883 + Frame_Shift_Del DEL G G - TCGA-S9-A7QX-01A-11D-A34A-08 TCGA-S9-A7QX-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 383e9041-2f85-417c-8824-0dafe5187fcc 3c3ec994-f86f-4708-bb2e-5cbc63b66c09 g.chrX:76939883delG ENST00000373344.5 - 9 1079 c.865delC c.(865-867)agfs p.Q289fs ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q251fs NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 289 ADD. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TGCAACAACTGTTCTAAATTC 0.348 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 118 193 --- --- --- ---