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 MCTP2 55784 broad.mit.edu 37 15 95013613 95013613 + Silent SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr15:95013613G>A ENST00000357742.4 + 20 2412 c.2412G>A c.(2410-2412)ctG>ctA p.L804L MCTP2_ENST00000451018.3_Silent_p.L749L NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 804 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GTTTGATTCTGGCAGCAGCCA 0.418000 4 171 0 0 0.001168 0 0 AGK 55750 broad.mit.edu 37 7 141351367 141351367 + Silent SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr7:141351367G>A ENST00000355413.4 + 15 1349 c.1089G>A c.(1087-1089)acG>acA p.T363T AGK_ENST00000473247.1_Silent_p.T335T|AGK_ENST00000535825.1_3'UTR NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase 363 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) TGGAGGGCACGGAGTGTCTCC 0.552000 5 78 0 0 0.001168 0 0 MYH10 4628 broad.mit.edu 37 17 8409745 8409745 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr17:8409745C>T ENST00000360416.3 - 27 3415 c.3277G>A c.(3277-3279)Ggg>Agg p.G1093R MYH10_ENST00000379980.4_Missense_Mutation_p.G1078R|MYH10_ENST00000269243.4_Missense_Mutation_p.G1062R|MYH10_ENST00000396239.1_Missense_Mutation_p.G1083R NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1062 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 GTCGTCTCCCCGTCGAGTTTT 0.527000 24 69 0 0 0.004656 0 0 ACR 49 broad.mit.edu 37 22 51178322 51178322 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr22:51178322G>A ENST00000216139.5 + 3 522 c.482G>A c.(481-483)gGc>gAc p.G161D ACR_ENST00000529621.1_Missense_Mutation_p.G161D NM_001097.2 NP_001088.2 P10323 ACRO_HUMAN acrosin 161 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) ATTGGGCCGGGCTGCCTGCCC 0.567000 18 104 0 0 0.012319 0 0 CNTLN 54875 broad.mit.edu 37 9 17273768 17273768 + Missense_Mutation SNP T T C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr9:17273768T>C ENST00000380647.3 + 6 971 c.887T>C c.(886-888)gTt>gCt p.V296A CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A|CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 296 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AGGAAAGAAGTTGAAGTATCA 0.308000 14 83 0 0 0.002450 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2421893 2421893 + Silent SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr19:2421893C>T ENST00000332578.3 + 13 2094 c.2094C>T c.(2092-2094)ggC>ggT p.G698G NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 698 Peptidase S1 2. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGCCCCTGGCGTGTTTTATC 0.617000 11 137 0 0 0.013537 0 0 ROBO1 6091 broad.mit.edu 37 3 78685112 78685112 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr3:78685112G>A ENST00000436010.2 - 21 4064 c.3067C>T c.(3067-3069)Cgt>Tgt p.R1023C ROBO1_ENST00000464233.1_Missense_Mutation_p.R1062C|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017C Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1062 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTGACAAAACGCCCATCCTTC 0.468000 6 116 0 0 0.001168 0 0 INPP5D 3635 broad.mit.edu 37 2 233925310 233925310 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr2:233925310C>T ENST00000359570.5 + 1 122 c.122C>T c.(121-123)gCg>gTg p.A41V INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 41 SH2. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CGGGCATACGCGCTCTGCGTG 0.612000 12 51 0 0 0.010729 0 0 FAM214A 56204 broad.mit.edu 37 15 52901525 52901525 + Missense_Mutation SNP T T G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr15:52901525T>G ENST00000261844.7 - 6 1738 c.1586A>C c.(1585-1587)aAt>aCt p.N529T FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 529 CTTCAACAAATTTTTGTCTTC 0.383000 31 85 0 0 0.007291 0 0 MAST4 375449 broad.mit.edu 37 5 66458987 66458987 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr5:66458987C>T ENST00000404260.3 + 29 4297 c.3989C>T c.(3988-3990)tCc>tTc p.S1330F MAST4_ENST00000403625.2_Missense_Mutation_p.S1327F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F|MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1330 Ser-rich. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) ACTAATTCCTCCCAGAGCAGC 0.552000 12 222 0 0 0.001855 0 0 RYR2 6262 broad.mit.edu 37 1 237711848 237711848 + Silent SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:237711848G>A ENST00000366574.2 + 26 3341 c.3024G>A c.(3022-3024)gcG>gcA p.A1008A RYR2_ENST00000542537.1_Silent_p.A992A|RYR2_ENST00000360064.6_Silent_p.A1006A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1008 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGTGTGGGCGCGGGATCGAA 0.473000 12 41 0 0 0.010729 0 0 TRIO 7204 broad.mit.edu 37 5 14363859 14363859 + Missense_Mutation SNP T T G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr5:14363859T>G ENST00000344204.4 + 14 2434 c.2410T>G c.(2410-2412)Tct>Gct p.S804A TRIO_ENST00000509967.2_Missense_Mutation_p.S755A|TRIO_ENST00000537187.1_Missense_Mutation_p.S804A NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 804 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGACCTCGAGTCTTGGAATGA 0.438000 6 85 0 0 0.001168 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 39 0 0 0.004672 0 0 PAPSS2 9060 broad.mit.edu 37 10 89505689 89505689 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr10:89505689G>A ENST00000361175.4 + 12 2176 c.1807G>A c.(1807-1809)Gtc>Atc p.V603I PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I|PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 603 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) AGCATGGAAGGTCCTGACAGA 0.463000 7 100 0 0 0.006214 0 0 SS18 6760 broad.mit.edu 37 18 23612376 23612376 + Missense_Mutation SNP T T G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr18:23612376T>G ENST00000415083.2 - 10 1272 c.1217A>C c.(1216-1218)tAt>tCt p.Y406S SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000539849.1_Missense_Mutation_p.Y324S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 406 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) GTCATATCCATAAGGCCTCTG 0.453000 T """SSX1, SSX2""" synovial sarcoma 6 196 0 0 0.001984 0 0 RXRG 6258 broad.mit.edu 37 1 165370515 165370515 + Silent SNP C C T rs149087358 byFrequency TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:165370515C>T ENST00000359842.5 - 10 1679 c.1377G>A c.(1375-1377)ccG>ccA p.P459P NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 459 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) TGATCTGCAGCGGGGTCTCCA 0.607000 22 94 0 0 0.003330 0 0 KIF21B 23046 broad.mit.edu 37 1 200972744 200972744 + Silent SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:200972744C>T ENST00000332129.2 - 8 1498 c.1182G>A c.(1180-1182)cgG>cgA p.R394R KIF21B_ENST00000461742.2_Silent_p.R394R|KIF21B_ENST00000422435.2_Silent_p.R394R|KIF21B_ENST00000360529.5_Silent_p.R394R NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 394 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.R394R(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCATCTGCAGCCGAGCAATCT 0.562000 18 69 0 0 0.007413 0 0 USP36 57602 broad.mit.edu 37 17 76803039 76803039 + Splice_Site SNP A A C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr17:76803039A>C ENST00000312010.6 - 14 2410 c.e14+1 USP36_ENST00000449938.2_Splice_Site|USP36_ENST00000542802.2_Splice_Site NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CCACACACCCACCTTCTTGGC 0.567000 8 90 0 0 0.006214 0 0 KIF1B 23095 broad.mit.edu 37 1 10342413 10342413 + Missense_Mutation SNP A A G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:10342413A>G ENST00000377086.1 + 15 1458 c.1256A>G c.(1255-1257)tAc>tGc p.Y419C KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Missense_Mutation_p.Y419C|KIF1B_ENST00000377083.1_Intron O60333 KIF1B_HUMAN kinesin family member 1B 419 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AAGCATAGATACTTGCTAGCC 0.453000 13 37 0 0 0.002450 0 0 NT5C2 22978 broad.mit.edu 37 10 104866420 104866420 + Silent SNP A A C rs146517994 TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr10:104866420A>C ENST00000343289.5 - 4 306 c.219T>G c.(217-219)acT>acG p.T73T NT5C2_ENST00000404739.3_Silent_p.T73T|NT5C2_ENST00000423468.2_Silent_p.T44T|NT5C2_ENST00000369857.4_Intron NM_001134373.2|NM_012229.4 NP_001127845.1|NP_036361.1 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 73 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) ATCTCTCCACAGTAAGCTCAA 0.388000 5 164 0 0 0.001168 0 0 ESYT2 57488 broad.mit.edu 37 7 158534551 158534551 + Missense_Mutation SNP G G C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr7:158534551G>C ENST00000251527.5 - 17 1977 c.1912C>G c.(1912-1914)Cac>Gac p.H638D ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 666 S -> G (in dbSNP:rs2305473). integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GAGTGTTGGTGGTCTGGAGGC 0.478000 26 98 0 0 0.007291 0 0 LUC7L 55692 broad.mit.edu 37 16 242931 242931 + Missense_Mutation SNP G G C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr16:242931G>C ENST00000337351.4 - 7 894 c.771C>G c.(769-771)agC>agG p.S257R LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R|LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000293872.8_Missense_Mutation_p.S257R NM_018032.3 NP_060502.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 257 Arg/Ser-rich. metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CTCACCTCCTGCTCAGACGCT 0.552000 16 229 0 0 0.004990 0 0 LMTK2 22853 broad.mit.edu 37 7 97823753 97823753 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr7:97823753G>T ENST00000297293.5 + 11 4269 c.3976G>T c.(3976-3978)Gac>Tac p.D1326Y NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1326 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CAGCAACGAGGACGGAAGGCA 0.622000 29 89 2.24059e-21 5.62754e-21 0.006320 1 0 HOXD4 3233 broad.mit.edu 37 2 177017450 177017450 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr2:177017450G>A ENST00000306324.3 + 2 960 c.548G>A c.(547-549)cGt>cAt p.R183H HOXD3_ENST00000468418.3_5'UTR NM_014621.2 NP_055436.2 P09016 HXD4_HUMAN homeobox D4 183 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) ACAAGGCGCCGTCGGATTGAA 0.527000 6 71 0 0 0.001168 0 0 PHACTR1 221692 broad.mit.edu 37 6 13228134 13228134 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr6:13228134G>A ENST00000379350.1 + 8 1202 c.1073G>A c.(1072-1074)gGc>gAc p.G358D PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D|PHACTR1_ENST00000379345.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 358 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GGACCTATGGGCCTTCCAGAA 0.483000 18 160 0 0 0.007413 0 0 SP8 221833 broad.mit.edu 37 7 20824912 20824912 + Missense_Mutation SNP T T C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr7:20824912T>C ENST00000361443.4 - 3 707 c.470A>G c.(469-471)cAc>cGc p.H157R SP8_ENST00000418710.2_Missense_Mutation_p.H175R NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 CACCGGCTGGTGGGAGCCGTC 0.706000 4 7 0 0 0.009096 0 0 COL6A1 1291 broad.mit.edu 37 21 47423618 47423618 + Silent SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr21:47423618C>T ENST00000361866.3 + 35 2892 c.2778C>T c.(2776-2778)ttC>ttT p.F926F COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 926 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TGACCCGCTTCTACCGCGAGG 0.642000 7 27 0 0 0.001984 0 0 ZNF594 84622 broad.mit.edu 37 17 5085657 5085657 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr17:5085657G>A ENST00000399604.4 - 1 2035 c.1895C>T c.(1894-1896)tCt>tTt p.S632F ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F Q96JF6 ZN594_HUMAN zinc finger protein 594 632 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ACCCCTAAAAGATTTCCCACA 0.398000 11 174 0 0 0.010729 0 0 SPOP 8405 broad.mit.edu 37 17 47696424 47696424 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr17:47696424G>T ENST00000393331.3 - 7 869 c.399C>A c.(397-399)ttC>ttA p.F133L SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133L(7) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TGAATTTCTTGAATCCCCAGT 0.448000 Prostate(2;0.17) 27 117 5.61819e-17 1.37901e-16 0.005443 1 0 CTNNA3 29119 broad.mit.edu 37 10 67680276 67680276 + Nonsense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr10:67680276G>A ENST00000433211.1 - 18 2674 c.2500C>T c.(2500-2502)Cga>Tga p.R834* CTNNA3_ENST00000373735.1_Nonsense_Mutation_p.R173*|CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.R834* NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 834 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.R834*(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CTCTGGATTCGGATGATCTTG 0.463000 25 108 0 0 0.005443 0 0 PHTF1 10745 broad.mit.edu 37 1 114254647 114254647 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:114254647C>T ENST00000369604.1 - 9 1355 c.872G>A c.(871-873)cGt>cAt p.R291H PHTF1_ENST00000369596.2_Missense_Mutation_p.R238H|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000357783.2_Missense_Mutation_p.R291H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R291H|PHTF1_ENST00000369598.1_Missense_Mutation_p.R246H|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.R238H Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 291 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CACACTCCTACGCAATAATAT 0.413000 22 63 0 0 0.016522 0 0 MME 4311 broad.mit.edu 37 3 154861330 154861330 + Silent SNP A A G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr3:154861330A>G ENST00000460393.1 + 13 1407 c.1287A>G c.(1285-1287)gaA>gaG p.E429E MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000493237.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 429 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTTATGTGGAAGCAGCATTTG 0.413000 20 91 0 0 0.010504 0 0 OBSCN 84033 broad.mit.edu 37 1 228433202 228433202 + Silent SNP G G C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr1:228433202G>C ENST00000570156.2 + 13 3920 c.3846G>C c.(3844-3846)gtG>gtC p.V1282V OBSCN_ENST00000422127.1_Silent_p.V1190V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.V1190V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 261 Ig-like 13. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGTGAGGTGGCCCAGCCCC 0.607000 11 71 0 0 0.001855 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000536727.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 6 56 0.00116845 0.00274331 0.001168 1 0 ARFGEF1 10565 broad.mit.edu 37 8 68178397 68178397 + Missense_Mutation SNP G G C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr8:68178397G>C ENST00000262215.3 - 14 2356 c.1967C>G c.(1966-1968)cCt>cGt p.P656R ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 656 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding p.P656H(1) breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TATTGTCTCAGGGTGTTTGAT 0.373000 9 42 0 0 0.006214 0 0 LASP1 3927 broad.mit.edu 37 17 37074903 37074903 + Nonsense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr17:37074903G>T ENST00000318008.6 + 7 989 c.658G>T c.(658-660)Gag>Tag p.E220* LASP1_ENST00000435347.3_Nonsense_Mutation_p.E220*|LASP1_ENST00000433206.2_Nonsense_Mutation_p.E164* NM_006148.2 NP_006139.1 Q14847 LASP1_HUMAN LIM and SH3 protein 1 220 SH3. E -> A (in Ref. 2; AAH12460). cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding breast(1)|large_intestine(2)|lung(4)|urinary_tract(2) 9 CGACGAGGACGAGGTCTCCTT 0.662000 T MLL AML 5 135 0.00116845 0.00274331 0.001168 1 0 FAM135B 51059 broad.mit.edu 37 8 139180230 139180230 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr8:139180230G>A ENST00000395297.1 - 12 1336 c.1166C>T c.(1165-1167)cCc>cTc p.P389L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 389 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGGCAGCGGGGGCATGCTAGT 0.602000 HNSCC(54;0.14) 27 111 0 0 0.005443 0 0 C16orf89 146556 broad.mit.edu 37 16 5094359 5094359 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr16:5094359C>T ENST00000422873.1 - 8 1277 c.1190G>A c.(1189-1191)aGc>aAc p.S397N C16orf89_ENST00000474471.3_3'UTR|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000350219.4_3'UTR|C16orf89_ENST00000315997.5_3'UTR NM_001098514.2 NP_001091984.2 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 0 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 TCAGCGGCTGCTTGGTGGTGG 0.602000 9 111 0 0 0.004482 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 3 88 0 0 0.004672 0 0 CCSER1 401145 broad.mit.edu 37 4 91229733 91229733 + Missense_Mutation SNP A A C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr4:91229733A>C ENST00000509176.1 + 2 586 c.298A>C c.(298-300)Atg>Ctg p.M100L CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L|CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 TCACAGCAATATGCAGAAACT 0.408000 5 85 0 0 0.001168 0 0 COL22A1 169044 broad.mit.edu 37 8 139890294 139890294 + Silent SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr8:139890294G>A ENST00000303045.6 - 3 803 c.357C>T c.(355-357)gaC>gaT p.D119D COL22A1_ENST00000435777.1_Silent_p.D119D NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 119 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGCGGAGCGCGTCTCCCGTGT 0.706000 HNSCC(7;0.00092) 4 17 0 0 0.009096 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890498 23890498 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr15:23890498G>A ENST00000532292.1 - 1 677 c.583C>T c.(583-585)Cct>Tct p.P195S NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) AGAGAGGCAGGCTGAAACTGG 0.582000 8 89 0 0 0.004482 0 0 OR9G4 283189 broad.mit.edu 37 11 56510819 56510819 + Missense_Mutation SNP T T G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr11:56510819T>G ENST00000302957.3 - 1 468 c.469A>C c.(469-471)Act>Cct p.T157P NM_001005284.1 NP_001005284.1 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, member 4 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 ACAAGCCCAGTACAGAGGGCG 0.463000 7 147 0 0 0.001984 0 0 AGK 55750 broad.mit.edu 37 7 141351367 141351367 + Silent SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr7:141351367G>A ENST00000355413.4 + 15 1349 c.1089G>A c.(1087-1089)acG>acA p.T363T AGK_ENST00000535825.1_3'UTR|AGK_ENST00000473247.1_Silent_p.T335T NM_018238.3 NP_060708.1 Q53H12 AGK_HUMAN acylglycerol kinase 363 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) TGGAGGGCACGGAGTGTCTCC 0.552000 5 78 0 0 0.001168 0 0 MYH10 4628 broad.mit.edu 37 17 8409745 8409745 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr17:8409745C>T ENST00000360416.3 - 27 3415 c.3277G>A c.(3277-3279)Ggg>Agg p.G1093R MYH10_ENST00000396239.1_Missense_Mutation_p.G1083R|MYH10_ENST00000269243.4_Missense_Mutation_p.G1062R|MYH10_ENST00000379980.4_Missense_Mutation_p.G1078R NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1062 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 GTCGTCTCCCCGTCGAGTTTT 0.527000 24 69 0 0 0.004656 0 0 ACR 49 broad.mit.edu 37 22 51178322 51178322 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr22:51178322G>A ENST00000216139.5 + 3 522 c.482G>A c.(481-483)gGc>gAc p.G161D ACR_ENST00000529621.1_Missense_Mutation_p.G161D NM_001097.2 NP_001088.2 P10323 ACRO_HUMAN acrosin 161 Peptidase S1. acrosome matrix dispersal|activation of adenylate cyclase activity acrosomal matrix|protein complex amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247) ATTGGGCCGGGCTGCCTGCCC 0.567000 18 104 0 0 0.012319 0 0 CNTLN 54875 broad.mit.edu 37 9 17273768 17273768 + Missense_Mutation SNP T T C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr9:17273768T>C ENST00000380647.3 + 6 971 c.887T>C c.(886-888)gTt>gCt p.V296A CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A|CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 296 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) AGGAAAGAAGTTGAAGTATCA 0.308000 14 83 0 0 0.002450 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2421893 2421893 + Silent SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr19:2421893C>T ENST00000332578.3 + 13 2094 c.2094C>T c.(2092-2094)ggC>ggT p.G698G NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 698 Peptidase S1 2. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGCCCCTGGCGTGTTTTATC 0.617000 11 137 0 0 0.013537 0 0 ROBO1 6091 broad.mit.edu 37 3 78685112 78685112 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr3:78685112G>A ENST00000436010.2 - 21 4064 c.3067C>T c.(3067-3069)Cgt>Tgt p.R1023C ROBO1_ENST00000464233.1_Missense_Mutation_p.R1062C|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017C Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1062 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTGACAAAACGCCCATCCTTC 0.468000 6 116 0 0 0.001168 0 0 INPP5D 3635 broad.mit.edu 37 2 233925310 233925310 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr2:233925310C>T ENST00000359570.5 + 1 122 c.122C>T c.(121-123)gCg>gTg p.A41V INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 41 SH2. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CGGGCATACGCGCTCTGCGTG 0.612000 12 51 0 0 0.010729 0 0 FAM214A 56204 broad.mit.edu 37 15 52901525 52901525 + Missense_Mutation SNP T T G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr15:52901525T>G ENST00000261844.7 - 6 1738 c.1586A>C c.(1585-1587)aAt>aCt p.N529T FAM214A_ENST00000546305.2_Missense_Mutation_p.N536T NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 529 CTTCAACAAATTTTTGTCTTC 0.383000 31 85 0 0 0.007291 0 0 MAST4 375449 broad.mit.edu 37 5 66458987 66458987 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr5:66458987C>T ENST00000404260.3 + 29 4297 c.3989C>T c.(3988-3990)tCc>tTc p.S1330F MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F|MAST4_ENST00000403625.2_Missense_Mutation_p.S1327F|MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F|MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1330 Ser-rich. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) ACTAATTCCTCCCAGAGCAGC 0.552000 12 222 0 0 0.001855 0 0 RYR2 6262 broad.mit.edu 37 1 237711848 237711848 + Silent SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr1:237711848G>A ENST00000366574.2 + 26 3341 c.3024G>A c.(3022-3024)gcG>gcA p.A1008A RYR2_ENST00000360064.6_Silent_p.A1006A|RYR2_ENST00000542537.1_Silent_p.A992A NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1008 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATGTGTGGGCGCGGGATCGAA 0.473000 12 41 0 0 0.010729 0 0 TRIO 7204 broad.mit.edu 37 5 14363859 14363859 + Missense_Mutation SNP T T G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr5:14363859T>G ENST00000344204.4 + 14 2434 c.2410T>G c.(2410-2412)Tct>Gct p.S804A TRIO_ENST00000537187.1_Missense_Mutation_p.S804A|TRIO_ENST00000509967.2_Missense_Mutation_p.S755A NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 804 apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGACCTCGAGTCTTGGAATGA 0.438000 6 85 0 0 0.001168 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663087 22663087 + RNA SNP A A G rs1054158 TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr22:22663087A>G ENST00000426066.1 + 0 526 NR_027293.1 GCTGCCACATAAGTTGTCCTT 0.303000 3 39 0 0 0.004672 0 0 PAPSS2 9060 broad.mit.edu 37 10 89505689 89505689 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr10:89505689G>A ENST00000361175.4 + 12 2176 c.1807G>A c.(1807-1809)Gtc>Atc p.V603I PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 603 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) AGCATGGAAGGTCCTGACAGA 0.463000 7 100 0 0 0.006214 0 0 SS18 6760 broad.mit.edu 37 18 23612376 23612376 + Missense_Mutation SNP T T G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr18:23612376T>G ENST00000415083.2 - 10 1272 c.1217A>C c.(1216-1218)tAt>tCt p.Y406S SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S|SS18_ENST00000539849.1_Missense_Mutation_p.Y324S NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 406 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) GTCATATCCATAAGGCCTCTG 0.453000 T """SSX1, SSX2""" synovial sarcoma 6 196 0 0 0.001984 0 0 RXRG 6258 broad.mit.edu 37 1 165370515 165370515 + Silent SNP C C T rs149087358 byFrequency TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr1:165370515C>T ENST00000359842.5 - 10 1679 c.1377G>A c.(1375-1377)ccG>ccA p.P459P NM_001256570.1|NM_006917.4 NP_001243499.1|NP_008848.1 P48443 RXRG_HUMAN retinoid X receptor, gamma 459 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 38 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) TGATCTGCAGCGGGGTCTCCA 0.607000 22 94 0 0 0.003330 0 0 KIF21B 23046 broad.mit.edu 37 1 200972744 200972744 + Silent SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr1:200972744C>T ENST00000332129.2 - 8 1498 c.1182G>A c.(1180-1182)cgG>cgA p.R394R KIF21B_ENST00000461742.2_Silent_p.R394R|KIF21B_ENST00000360529.5_Silent_p.R394R|KIF21B_ENST00000422435.2_Silent_p.R394R NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 394 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.R394R(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CCATCTGCAGCCGAGCAATCT 0.562000 18 69 0 0 0.007413 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 74 0 0 0.009096 0 0 USP36 57602 broad.mit.edu 37 17 76803039 76803039 + Splice_Site SNP A A C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr17:76803039A>C ENST00000312010.6 - 14 2410 c.e14+1 USP36_ENST00000542802.2_Splice_Site|USP36_ENST00000449938.2_Splice_Site NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CCACACACCCACCTTCTTGGC 0.567000 8 90 0 0 0.006214 0 0 KIF1B 23095 broad.mit.edu 37 1 10342413 10342413 + Missense_Mutation SNP A A G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr1:10342413A>G ENST00000377086.1 + 15 1458 c.1256A>G c.(1255-1257)tAc>tGc p.Y419C KIF1B_ENST00000377081.1_Missense_Mutation_p.Y419C|KIF1B_ENST00000377083.1_Intron|KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron O60333 KIF1B_HUMAN kinesin family member 1B 419 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AAGCATAGATACTTGCTAGCC 0.453000 13 37 0 0 0.002450 0 0 NT5C2 22978 broad.mit.edu 37 10 104866420 104866420 + Silent SNP A A C rs146517994 TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr10:104866420A>C ENST00000343289.5 - 4 306 c.219T>G c.(217-219)acT>acG p.T73T NT5C2_ENST00000423468.2_Silent_p.T44T|NT5C2_ENST00000369857.4_Intron|NT5C2_ENST00000404739.3_Silent_p.T73T NM_001134373.2|NM_012229.4 NP_001127845.1|NP_036361.1 P49902 5NTC_HUMAN 5'-nucleotidase, cytosolic II 73 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1) 16 all_hematologic(284;0.176)|Colorectal(252;0.178) Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159) Adenosine triphosphate(DB00171)|Ribavirin(DB00811) ATCTCTCCACAGTAAGCTCAA 0.388000 5 164 0 0 0.001168 0 0 LUC7L 55692 broad.mit.edu 37 16 242931 242931 + Missense_Mutation SNP G G C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr16:242931G>C ENST00000337351.4 - 7 894 c.771C>G c.(769-771)agC>agG p.S257R LUC7L_ENST00000293872.8_Missense_Mutation_p.S257R|LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R NM_018032.3 NP_060502.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 257 Arg/Ser-rich. metal ion binding NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CTCACCTCCTGCTCAGACGCT 0.552000 16 229 0 0 0.004990 0 0 ESYT2 57488 broad.mit.edu 37 7 158534551 158534551 + Missense_Mutation SNP G G C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr7:158534551G>C ENST00000251527.5 - 17 1977 c.1912C>G c.(1912-1914)Cac>Gac p.H638D ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 666 S -> G (in dbSNP:rs2305473). integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GAGTGTTGGTGGTCTGGAGGC 0.478000 26 98 0 0 0.007291 0 0 LMTK2 22853 broad.mit.edu 37 7 97823753 97823753 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr7:97823753G>T ENST00000297293.5 + 11 4269 c.3976G>T c.(3976-3978)Gac>Tac p.D1326Y NM_014916.3 NP_055731.2 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 1326 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CAGCAACGAGGACGGAAGGCA 0.622000 29 89 2.24059e-21 4.76722e-21 0.006320 1 0 HOXD4 3233 broad.mit.edu 37 2 177017450 177017450 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr2:177017450G>A ENST00000306324.3 + 2 960 c.548G>A c.(547-549)cGt>cAt p.R183H HOXD3_ENST00000468418.3_5'UTR NM_014621.2 NP_055436.2 P09016 HXD4_HUMAN homeobox D4 183 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) ACAAGGCGCCGTCGGATTGAA 0.527000 6 71 0 0 0.001168 0 0 PHACTR1 221692 broad.mit.edu 37 6 13228134 13228134 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr6:13228134G>A ENST00000379350.1 + 8 1202 c.1073G>A c.(1072-1074)gGc>gAc p.G358D PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D|PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000379345.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 358 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) GGACCTATGGGCCTTCCAGAA 0.483000 18 160 0 0 0.007413 0 0 SP8 221833 broad.mit.edu 37 7 20824912 20824912 + Missense_Mutation SNP T T C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr7:20824912T>C ENST00000361443.4 - 3 707 c.470A>G c.(469-471)cAc>cGc p.H157R SP8_ENST00000418710.2_Missense_Mutation_p.H175R NM_198956.2 NP_945194.1 Q8IXZ3 SP8_HUMAN Sp8 transcription factor 157 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 8 CACCGGCTGGTGGGAGCCGTC 0.706000 4 7 0 0 0.009096 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663086 22663086 + RNA SNP T T G rs1054157 by1000genomes TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr22:22663086T>G ENST00000426066.1 + 0 525 NR_027293.1 AGCTGCCACATAAGTTGTCCT 0.299000 3 40 0 0 0.004672 0 0 COL6A1 1291 broad.mit.edu 37 21 47423618 47423618 + Silent SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr21:47423618C>T ENST00000361866.3 + 35 2892 c.2778C>T c.(2776-2778)ttC>ttT p.F926F COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 926 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TGACCCGCTTCTACCGCGAGG 0.642000 7 27 0 0 0.001984 0 0 ZNF594 84622 broad.mit.edu 37 17 5085657 5085657 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr17:5085657G>A ENST00000399604.4 - 1 2035 c.1895C>T c.(1894-1896)tCt>tTt p.S632F ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F Q96JF6 ZN594_HUMAN zinc finger protein 594 632 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 33 ACCCCTAAAAGATTTCCCACA 0.398000 11 174 0 0 0.010729 0 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254054 39254054 + Missense_Mutation SNP A A T rs76270529 by1000genomes TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr17:39254054A>T ENST00000333822.4 - 1 339 c.283T>A c.(283-285)Tgc>Agc p.C95S NM_031960.2 NP_114166.1 Q9BYQ9 KRA48_HUMAN keratin associated protein 4-8 95 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament p.C95S(4) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 ctggagatgcagcagcTAGGG 0.677000 4 70 0 0 0.004482 0 0 SPOP 8405 broad.mit.edu 37 17 47696424 47696424 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr17:47696424G>T ENST00000393331.3 - 7 869 c.399C>A c.(397-399)ttC>ttA p.F133L SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 133 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.F133L(7) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TGAATTTCTTGAATCCCCAGT 0.448000 Prostate(2;0.17) 27 117 5.61819e-17 1.17046e-16 0.005443 1 0 CTNNA3 29119 broad.mit.edu 37 10 67680276 67680276 + Nonsense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr10:67680276G>A ENST00000433211.1 - 18 2674 c.2500C>T c.(2500-2502)Cga>Tga p.R834* CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.R834*|CTNNA3_ENST00000373735.1_Nonsense_Mutation_p.R173* NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 834 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.R834*(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CTCTGGATTCGGATGATCTTG 0.463000 25 108 0 0 0.005443 0 0 PHTF1 10745 broad.mit.edu 37 1 114254647 114254647 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr1:114254647C>T ENST00000369604.1 - 9 1355 c.872G>A c.(871-873)cGt>cAt p.R291H PHTF1_ENST00000369598.1_Missense_Mutation_p.R246H|PHTF1_ENST00000369596.2_Missense_Mutation_p.R238H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R291H|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000357783.2_Missense_Mutation_p.R291H|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.R238H Q9UMS5 PHTF1_HUMAN putative homeodomain transcription factor 1 291 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CACACTCCTACGCAATAATAT 0.413000 22 63 0 0 0.016522 0 0 MME 4311 broad.mit.edu 37 3 154861330 154861330 + Silent SNP A A G TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr3:154861330A>G ENST00000460393.1 + 13 1407 c.1287A>G c.(1285-1287)gaA>gaG p.E429E MME_ENST00000493237.1_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E|MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000360490.2_Silent_p.E429E NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 429 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) TTTATGTGGAAGCAGCATTTG 0.413000 20 91 0 0 0.010504 0 0 OBSCN 84033 broad.mit.edu 37 1 228433202 228433202 + Silent SNP G G C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr1:228433202G>C ENST00000570156.2 + 13 3920 c.3846G>C c.(3844-3846)gtG>gtC p.V1282V OBSCN_ENST00000422127.1_Silent_p.V1190V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.V1190V NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 261 Ig-like 13. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCTGTGAGGTGGCCCAGCCCC 0.607000 11 71 0 0 0.001855 0 0 CADM1 23705 broad.mit.edu 37 11 115080343 115080343 + Silent SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr11:115080343G>T ENST00000537058.1 - 8 1049 c.1029C>A c.(1027-1029)acC>acA p.T343T CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000536727.1_Intron Q9BY67 CADM1_HUMAN cell adhesion molecule 1 343 PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657). adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding p.T343T(5) cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) tggtggtggtggttgttgtgg 0.433000 6 56 0.00116845 0.00233689 0.001168 1 0 ARFGEF1 10565 broad.mit.edu 37 8 68178397 68178397 + Missense_Mutation SNP G G C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr8:68178397G>C ENST00000262215.3 - 14 2356 c.1967C>G c.(1966-1968)cCt>cGt p.P656R ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 656 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding p.P656H(1) breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TATTGTCTCAGGGTGTTTGAT 0.373000 9 42 0 0 0.006214 0 0 LASP1 3927 broad.mit.edu 37 17 37074903 37074903 + Nonsense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr17:37074903G>T ENST00000318008.6 + 7 989 c.658G>T c.(658-660)Gag>Tag p.E220* LASP1_ENST00000435347.3_Nonsense_Mutation_p.E220*|LASP1_ENST00000433206.2_Nonsense_Mutation_p.E164* NM_006148.2 NP_006139.1 Q14847 LASP1_HUMAN LIM and SH3 protein 1 220 SH3. E -> A (in Ref. 2; AAH12460). cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding breast(1)|large_intestine(2)|lung(4)|urinary_tract(2) 9 CGACGAGGACGAGGTCTCCTT 0.662000 T MLL AML 5 135 0.00116845 0.00233689 0.001168 1 0 FAM135B 51059 broad.mit.edu 37 8 139180230 139180230 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr8:139180230G>A ENST00000395297.1 - 12 1336 c.1166C>T c.(1165-1167)cCc>cTc p.P389L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 389 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGGCAGCGGGGGCATGCTAGT 0.602000 HNSCC(54;0.14) 27 111 0 0 0.005443 0 0 C16orf89 146556 broad.mit.edu 37 16 5094359 5094359 + Missense_Mutation SNP C C T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr16:5094359C>T ENST00000422873.1 - 8 1277 c.1190G>A c.(1189-1191)aGc>aAc p.S397N ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|C16orf89_ENST00000315997.5_3'UTR|C16orf89_ENST00000350219.4_3'UTR|C16orf89_ENST00000474471.3_3'UTR NM_001098514.2 NP_001091984.2 Q6UX73 CP089_HUMAN chromosome 16 open reading frame 89 0 extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 12 TCAGCGGCTGCTTGGTGGTGG 0.602000 9 111 0 0 0.004482 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 3 88 0 0 0.004672 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803552 142803552 + RNA SNP T T A rs141013493 by1000genomes TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr1:142803552T>A ENST00000423385.1 - 0 1413 TCCTGATGAATCTGCAGTCAG 0.269000 4 136 0 0 0.009096 0 0 CCSER1 401145 broad.mit.edu 37 4 91229733 91229733 + Missense_Mutation SNP A A C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr4:91229733A>C ENST00000509176.1 + 2 586 c.298A>C c.(298-300)Atg>Ctg p.M100L CCSER1_ENST00000333691.8_Missense_Mutation_p.M100L|CCSER1_ENST00000432775.2_Missense_Mutation_p.M100L NM_001145065.1 NP_001138537.1 coiled-coil serine-rich protein 1 TCACAGCAATATGCAGAAACT 0.408000 5 85 0 0 0.001168 0 0 COL22A1 169044 broad.mit.edu 37 8 139890294 139890294 + Silent SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr8:139890294G>A ENST00000303045.6 - 3 803 c.357C>T c.(355-357)gaC>gaT p.D119D COL22A1_ENST00000435777.1_Silent_p.D119D NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 119 VWFA. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGCGGAGCGCGTCTCCCGTGT 0.706000 HNSCC(7;0.00092) 4 17 0 0 0.009096 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890498 23890498 + Missense_Mutation SNP G G A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr15:23890498G>A ENST00000532292.1 - 1 677 c.583C>T c.(583-585)Cct>Tct p.P195S NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) AGAGAGGCAGGCTGAAACTGG 0.582000 8 89 0 0 0.004482 0 0 CAMK4 814 broad.mit.edu 37 5 110710553 110710554 + Frame_Shift_Ins INS - - A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 62d82fd8-e94f-4dae-a171-a8eab417bc41 g.chr5:110710553_110710554insA ENST00000282356.4 + 3 644_645 c.246_247insA c.(244-249)gaaaaafs p.EK82fs CAMK4_ENST00000512453.1_Frame_Shift_Ins_p.EK82fs NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 82 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TTTAGGTGGACAAAAAAATCGT 0.376 15 51 --- --- --- --- CAMK4 814 broad.mit.edu 37 5 110710553 110710554 + Frame_Shift_Ins INS - - A TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr5:110710553_110710554insA ENST00000282356.4 + 3 644_645 c.246_247insA c.(244-249)gaaaaafs p.EK82fs CAMK4_ENST00000512453.1_Frame_Shift_Ins_p.EK82fs NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 82 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TTTAGGTGGACAAAAAAATCGT 0.376 15 51 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 4 6 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-11A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 3ec7131a-d645-47a5-baa3-10b19f243846 bf76247b-356d-41c3-b5bf-5e9859046a1a g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 4 4 --- --- --- ---