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 TUBGCP6 85378 broad.mit.edu 37 22 50682173 50682173 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr22:50682173G>A ENST00000439308.2 - 1 1208 c.716C>T c.(715-717)gCg>gTg p.A239V TUBGCP6_ENST00000248846.5_Missense_Mutation_p.A239V NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 239 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) AGAGAGGTCCGCATTGTCTGG 0.542000 4 74 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228505307 228505307 + Missense_Mutation SNP G G T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:228505307G>T ENST00000570156.2 + 63 16649 c.16575G>T c.(16573-16575)caG>caT p.Q5525H OBSCN_ENST00000284548.11_Missense_Mutation_p.Q4568H|OBSCN_ENST00000422127.1_Missense_Mutation_p.Q4568H|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q2202H|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q1687H NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4568 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) CCACAGGCCAGTGGCGGCTGT 0.677000 21 34 2.27731e-05 2.38161e-05 1 1 0 RALGAPA2 57186 broad.mit.edu 37 20 20618015 20618015 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr20:20618015G>A ENST00000202677.6 - 8 939 c.797C>T c.(796-798)cCt>cTt p.P266L NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 266 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 ACCAAGTACAGGTTTGTAGAT 0.303000 3 15 0 0 1 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49667777 49667777 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr10:49667777C>T ENST00000249601.4 - 5 905 c.609G>A c.(607-609)gtG>gtA p.V203V ARHGAP22_ENST00000435790.2_Silent_p.V209V|ARHGAP22_ENST00000374172.1_Silent_p.V94V|ARHGAP22_ENST00000374170.1_Silent_p.V113V|ARHGAP22_ENST00000417912.2_Silent_p.V219V|ARHGAP22_ENST00000417247.2_Silent_p.V113V NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 203 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCAGGTCCCTCACCAGGTTGG 0.627000 85 170 0 0 1 0 0 CST9L 128821 broad.mit.edu 37 20 23546710 23546710 + Silent SNP A A T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr20:23546710A>T ENST00000376979.3 - 2 553 c.255T>A c.(253-255)acT>acA p.T85T NM_080610.2 NP_542177.1 Q9H4G1 CST9L_HUMAN cystatin 9-like 85 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 Colorectal(13;0.0431)|Lung NSC(19;0.235) TTGAGAATACAGTCTTGGACT 0.458000 45 166 0 0 1 0 0 PEX11B 8799 broad.mit.edu 37 1 145522769 145522769 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:145522769C>T ENST00000369306.3 + 4 779 c.630C>T c.(628-630)gaC>gaT p.D210D PEX11B_ENST00000537888.1_Silent_p.D196D NM_003846.2 NP_003837.1 O96011 PX11B_HUMAN peroxisomal biogenesis factor 11 beta 210 peroxisome fission|signal transduction integral to peroxisomal membrane protein binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1) 7 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCTGCTAGACGTGGTCAGAA 0.582000 45 93 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172674530 172674530 + Missense_Mutation SNP T T A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr3:172674530T>A ENST00000351008.3 - 6 1201 c.1018A>T c.(1018-1020)Ata>Tta p.I340L NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 340 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) ACTTTTTCTATTTTATCAGCT 0.358000 14 38 0 0 1 0 0 NDUFV3 4731 broad.mit.edu 37 21 44324289 44324289 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr21:44324289C>T ENST00000354250.2 + 3 1236 c.1167C>T c.(1165-1167)caC>caT p.H389H NDUFV3_ENST00000340344.3_Intron|NDUFV3_ENST00000460259.1_3'UTR NM_021075.3 NP_066553.3 P56181 NDUV3_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa 0 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I|nucleus NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 10 STAD - Stomach adenocarcinoma(101;0.0606) NADH(DB00157) AGAATAACCACGGTTTCCATG 0.572000 8 31 0 0 1 0 0 UBAP2 55833 broad.mit.edu 37 9 33956091 33956091 + Missense_Mutation SNP G G C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr9:33956091G>C ENST00000379238.1 - 11 969 c.852C>G c.(850-852)atC>atG p.I284M UBAP2_ENST00000539807.1_Missense_Mutation_p.I39M|UBAP2_ENST00000418786.2_Missense_Mutation_p.I231M|UBAP2_ENST00000449054.1_Missense_Mutation_p.I284M|UBAP2_ENST00000379239.4_Intron|UBAP2_ENST00000360802.1_Missense_Mutation_p.I284M Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 284 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) GCCCAGGTAAGATGTGATTCT 0.338000 18 187 0 0 1 0 0 HPR 3250 broad.mit.edu 37 16 72110962 72110962 + Missense_Mutation SNP G G T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr16:72110962G>T ENST00000540303.2 + 5 1061 c.1029G>T c.(1027-1029)aaG>aaT p.K343N HPR_ENST00000561690.1_3'UTR|HPR_ENST00000228226.8_Missense_Mutation_p.K380N|HPR_ENST00000356967.5_Missense_Mutation_p.K343N NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 343 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) GGGTTCAGAAGACCATAGCTG 0.537000 9 60 0.000673444 0.000688521 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 58 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240601385 240601385 + Missense_Mutation SNP C C G TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:240601385C>G ENST00000319653.9 + 16 5165 c.4935C>G c.(4933-4935)ttC>ttG p.F1645L FMN2_ENST00000545751.1_Missense_Mutation_p.F241L NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1645 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CGGCATATTTCTTCATGAAAC 0.383000 37 90 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50280430 50280430 + Silent SNP C C G TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr2:50280430C>G ENST00000404971.1 - 22 5566 c.4227G>C c.(4225-4227)ccG>ccC p.P1409P NRXN1_ENST00000342183.5_Silent_p.P304P|NRXN1_ENST00000406316.2_Silent_p.P1339P|NRXN1_ENST00000401669.2_Silent_p.P1369P|NRXN1_ENST00000402717.3_Silent_p.P1361P|NRXN1_ENST00000401710.1_Silent_p.P357P|NRXN1_ENST00000406859.3_Silent_p.P1339P|NRXN1_ENST00000405472.3_Silent_p.P1361P NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1339 Poly-Ala. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GTTCTTTTGTCGGGGGCTTTC 0.453000 32 83 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62551060 62551060 + Silent SNP C C A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr14:62551060C>A ENST00000430451.2 + 5 1778 c.1581C>A c.(1579-1581)atC>atA p.I527I NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 527 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) TGGAAATGATCAAAGGCAGCC 0.547000 18 35 3.52763e-06 3.71758e-06 1 1 0 MNX1 3110 broad.mit.edu 37 7 156798412 156798412 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr7:156798412C>T ENST00000252971.6 - 3 1308 c.1008G>A c.(1006-1008)ccG>ccA p.P336P MNX1_ENST00000543409.1_Silent_p.P124P|MNX1_ENST00000469500.1_Intron NM_005515.3 NP_005506.3 P50219 MNX1_HUMAN motor neuron and pancreas homeobox 1 336 humoral immune response|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGGGCGCTGGCGGCCCCAGCA 0.731000 3 22 0 0 1 0 0 IGHV3-49 28423 broad.mit.edu 37 14 107013323 107013323 + RNA SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr14:107013323C>T ENST00000390625.2 - 0 126 TCCCCTCACACTCAGTATCTC 0.463000 21 88 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68864658 68864658 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr8:68864658G>A ENST00000288368.4 + 1 306 c.29G>A c.(28-30)cGc>cAc p.R10H PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 10 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GGAGACAGCCGCGCCGAGAGC 0.736000 10 7 0 0 1 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26671444 26671444 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:26671444G>A ENST00000226225.2 + 7 1036 c.769G>A c.(769-771)Gag>Aag p.E257K TNFAIP1_ENST00000544907.2_Missense_Mutation_p.E153K|TNFAIP1_ENST00000583213.1_3'UTR NM_021137.4 NP_066960.1 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 (endothelial) 257 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CCTACTCTATGAGACTCCCCG 0.562000 22 49 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835454 247835454 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:247835454C>T ENST00000359688.2 - 1 911 c.890G>A c.(889-891)gGa>gAa p.G297E RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTTCCTAATTCCTGCCTGCAT 0.423000 26 55 0 0 1 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62647983 62647983 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr10:62647983C>T ENST00000337910.5 - 6 1780 c.1443G>A c.(1441-1443)aaG>aaA p.K481K RHOBTB1_ENST00000357917.4_Silent_p.K481K NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 481 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) AGAACGTTCCCTTGCTGAGAC 0.473000 3 35 0 0 1 0 0 IGLV2-28 28812 broad.mit.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr22:23006961C>T ENST00000385099.1 + 0 64 GGCTCTGCTCCTCCTCACCCT 0.627000 3 4 0 0 1 0 0 PDIA4 9601 broad.mit.edu 37 7 148703001 148703001 + Missense_Mutation SNP C C A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr7:148703001C>A ENST00000286091.4 - 8 1508 c.1276G>T c.(1276-1278)Gat>Tat p.D426Y NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 426 cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) GCTCTGTAATCAAAGCTGAAG 0.627000 OREG0018420 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 20 3.32936e-07 3.56345e-07 1 1 0 KIF13A 63971 broad.mit.edu 37 6 17764436 17764436 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr6:17764436C>T ENST00000378814.5 - 37 5178 c.5179G>A c.(5179-5181)Gat>Aat p.D1727N KIF13A_ENST00000259711.6_Missense_Mutation_p.D1775N|KIF13A_ENST00000378816.5_Missense_Mutation_p.D1740N|KIF13A_ENST00000378843.2_Missense_Mutation_p.D1727N|KIF13A_ENST00000378826.2_Missense_Mutation_p.D1740N NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1775 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TGGAGCCCATCGGAGACAGTC 0.483000 9 25 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625941 29625941 + Missense_Mutation SNP A A T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr20:29625941A>T ENST00000278882.3 + 5 565 c.185A>T c.(184-186)gAt>gTt p.D62V FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V p.D62V(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGGCATTCAGATGCAATTGGA 0.333000 7 80 0 0 1 0 0 XPNPEP2 7512 broad.mit.edu 37 X 128879212 128879212 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chrX:128879212G>A ENST00000371106.3 + 4 460 c.268G>A c.(268-270)Gcg>Acg p.A90T XPNPEP2_ENST00000371105.3_Missense_Mutation_p.A90T NM_003399.5 NP_003390.4 O43895 XPP2_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 90 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 37 CGAGAGGCGTGCGTGGATTAC 0.493000 18 20 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132206202 132206202 + Splice_Site SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr6:132206202C>T ENST00000360971.2 + 23 2463 c.2444_splice c.e23+1 p.Q815_splice NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 815 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) GAATCTGAGGCAGTAAGAACA 0.378000 10 18 0 0 1 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48517558 48517558 + Missense_Mutation SNP G G C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr19:48517558G>C ENST00000339841.2 + 3 379 c.201G>C c.(199-201)caG>caC p.Q67H ELSPBP1_ENST00000597519.1_Intron NM_022142.4 NP_071425.3 Q96BH3 ESPB1_HUMAN epididymal sperm binding protein 1 67 Fibronectin type-II 1. single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) AGTACTGCCAGAGTGAAGGTG 0.473000 8 70 0 0 1 0 0 C19orf26 255057 broad.mit.edu 37 19 1231206 1231206 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr19:1231206C>T ENST00000590083.1 - 9 1340 c.1048G>A c.(1048-1050)Gat>Aat p.D350N C19orf26_ENST00000215376.6_Missense_Mutation_p.D344N|C19orf26_ENST00000382477.2_Missense_Mutation_p.D370N Q8N350 DOS_HUMAN chromosome 19 open reading frame 26 370 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) 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) TGGGGGGCATCCCCCTCCTCC 0.711000 HNSCC(14;0.022) 21 78 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113662509 113662509 + Missense_Mutation SNP T T C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr8:113662509T>C ENST00000297405.5 - 19 3318 c.3074A>G c.(3073-3075)gAt>gGt p.D1025G CSMD3_ENST00000352409.3_Missense_Mutation_p.D1025G|CSMD3_ENST00000455883.2_Missense_Mutation_p.D921G|CSMD3_ENST00000343508.3_Missense_Mutation_p.D985G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1025 Sushi 5. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AATGGAGAAATCATGACCATA 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 86 85 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7574018 7574018 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:7574018G>A ENST00000269305.4 - 10 1198 c.1009C>T c.(1009-1011)Cgc>Tgc p.R337C TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000420246.2_3'UTR NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1 NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1 P04637 P53_HUMAN tumor protein p53 337 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation). 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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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) ATCTCGAAGCGCTCACGCCCA 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) 13 19 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129739790 129739790 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr11:129739790C>T ENST00000446488.3 - 23 3233 c.3130G>A c.(3130-3132)Gtg>Atg p.V1044M NFRKB_ENST00000304521.5_Missense_Mutation_p.V1044M|NFRKB_ENST00000524794.1_Missense_Mutation_p.V1069M|NFRKB_ENST00000524746.1_Missense_Mutation_p.V1044M NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 1044 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) TCAGGAGTCACTTTGACCACA 0.537000 17 57 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79581668 79581668 + Silent SNP T T A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr10:79581668T>A ENST00000372391.2 - 15 2579 c.2574A>T c.(2572-2574)ccA>ccT p.P858P DLG5_ENST00000372388.2_Intron NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 858 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CTGGGGGGCCTGGCTCCTTCC 0.592000 24 46 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158813850 158813850 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:158813850G>A ENST00000368141.4 + 4 769 c.508G>A c.(508-510)Gtg>Atg p.V170M NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 170 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) ATCTGCAGCTGTGGATCATCC 0.478000 66 152 0 0 1 0 0 PKD1 5310 broad.mit.edu 37 16 2165590 2165590 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr16:2165590G>A ENST00000262304.4 - 10 2094 c.1886C>T c.(1885-1887)tCc>tTc p.S629F PKD1_ENST00000423118.1_Missense_Mutation_p.S629F NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 629 calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GTTGTCCGGGGACCTGCTCTC 0.692000 5 2 0 0 1 0 0 KRTAP9-8 83901 broad.mit.edu 37 17 39394318 39394318 + Silent SNP T T C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:39394318T>C ENST00000254072.6 + 1 22 c.15T>C c.(13-15)tgT>tgC p.C5C NM_031963.2 NP_114169.2 Q9BYQ0 KRA98_HUMAN keratin associated protein 9-8 5 keratin filament lung(8)|ovary(1)|prostate(1) 10 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000397) CCCACTGTTGTTCCCCTTGCT 0.572000 11 106 0 0 1 0 0 PPIL2 23759 broad.mit.edu 37 22 22035601 22035601 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr22:22035601C>T ENST00000406385.1 + 7 369 c.309C>T c.(307-309)tgC>tgT p.C103C PPIL2_ENST00000398831.3_Silent_p.C103C|PPIL2_ENST00000456792.2_Silent_p.C82C|PPIL2_ENST00000335025.7_Silent_p.C103C|PPIL2_ENST00000412327.1_Silent_p.C103C|PPIL2_ENST00000492445.2_Silent_p.C103C Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 103 blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) AGTACCACTGCCCAGTGCTGT 0.607000 15 46 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76449525 76449525 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:76449525C>T ENST00000389840.5 - 65 10511 c.10387G>A c.(10387-10389)Gcc>Acc p.A3463T DNAH17_ENST00000585328.1_Missense_Mutation_p.A3472T|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCCGAGATGGCCTGCTCGATG 0.597000 4 42 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129171431 129171431 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chrX:129171431C>T ENST00000540052.1 + 8 4439 c.4395C>T c.(4393-4395)tcC>tcT p.S1465S BCORL1_ENST00000303743.5_Silent_p.S1539S|BCORL1_ENST00000218147.7_Silent_p.S1465S|BCORL1_ENST00000359304.2_Silent_p.S1335S NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1465 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 AGGCTTGTTCCCGGGGCTGGA 0.592000 35 31 0 0 1 0 0 CIZ1 25792 broad.mit.edu 37 9 130941438 130941438 + Missense_Mutation SNP A A T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr9:130941438A>T ENST00000538431.1 - 8 1295 c.1048T>A c.(1048-1050)Tct>Act p.S350T CIZ1_ENST00000372954.1_Missense_Mutation_p.S326T|CIZ1_ENST00000372938.5_Missense_Mutation_p.S350T|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000277465.4_Missense_Mutation_p.S350T|CIZ1_ENST00000325721.8_Missense_Mutation_p.S321T|CIZ1_ENST00000393608.1_Missense_Mutation_p.S350T|CIZ1_ENST00000372948.3_Missense_Mutation_p.S350T|CIZ1_ENST00000357558.5_Missense_Mutation_p.S350T|CIZ1_ENST00000541172.1_Missense_Mutation_p.S249T NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 350 Gln-rich. nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 TGCTCTGGAGAGGTCTGTGTT 0.612000 53 81 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100266156 100266156 + RNA SNP C C T rs78241133 TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr4:100266156C>T ENST00000510055.1 - 0 604 ADH1C_ENST00000515683.1_RNA 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) AAGGTGCTGACGCCGACGAAG 0.577000 30 92 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87591012 87591012 + Missense_Mutation SNP C C G TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr8:87591012C>G ENST00000320005.5 - 17 2055 c.2008G>C c.(2008-2010)Gaa>Caa p.E670Q NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 670 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 GGTGTCTCTTCTTTCGGTGGG 0.468000 69 77 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51255079 51255079 + Missense_Mutation SNP G G C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr2:51255079G>C ENST00000404971.1 - 2 1672 c.333C>G c.(331-333)gaC>gaG p.D111E NRXN1_ENST00000406316.2_Missense_Mutation_p.D111E|NRXN1_ENST00000401669.2_Missense_Mutation_p.D111E|NRXN1_ENST00000402717.3_Missense_Mutation_p.D111E|NRXN1_ENST00000405581.1_Missense_Mutation_p.D111E|NRXN1_ENST00000406859.3_Missense_Mutation_p.D111E|NRXN1_ENST00000405472.3_Missense_Mutation_p.D111E NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 111 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.D111D(3) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCCAGGCGCCGTCGTTAACCG 0.662000 15 33 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94043232 94043232 + Missense_Mutation SNP G G T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr5:94043232G>T ENST00000515393.1 - 23 2968 c.2969C>A c.(2968-2970)cCa>cAa p.P990Q MCTP1_ENST00000312216.8_Missense_Mutation_p.P769Q|MCTP1_ENST00000514040.1_Intron|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000505078.1_Missense_Mutation_p.P506Q|MCTP1_ENST00000429576.2_Missense_Mutation_p.P683Q NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 990 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TCTTTTATATGGGCTATGAGA 0.453000 31 42 6.97489e-18 7.89719e-18 1 1 0 KCNB2 9312 broad.mit.edu 37 8 73480018 73480018 + Missense_Mutation SNP A A G TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr8:73480018A>G ENST00000523207.1 + 2 637 c.49A>G c.(49-51)Aca>Gca p.T17A NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 17 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TTCAAGGTCGACACTTTCCCT 0.512000 97 95 0 0 1 0 0 OR1L4 254973 broad.mit.edu 37 9 125486859 125486859 + Silent SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr9:125486859G>A ENST00000259466.1 + 1 591 c.591G>A c.(589-591)caG>caA p.Q197Q NM_001005235.1 NP_001005235.1 Q8NGR5 OR1L4_HUMAN olfactory receptor, family 1, subfamily L, member 4 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1) 20 CCTCCAGCCAGATGGTGGTGA 0.502000 48 402 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14634098 14634098 + Missense_Mutation SNP C C G TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr12:14634098C>G ENST00000544627.1 + 13 3603 c.3283C>G c.(3283-3285)Cgg>Ggg p.R1095G ATF7IP_ENST00000543189.1_Missense_Mutation_p.R1086G|ATF7IP_ENST00000540793.1_Missense_Mutation_p.R1087G|ATF7IP_ENST00000261168.4_Missense_Mutation_p.R1087G|ATF7IP_ENST00000536444.1_Missense_Mutation_p.R1086G Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 1087 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 TCCTGCTGTTCGGCAGGTCAA 0.458000 12 67 0 0 1 0 0 CD27 939 broad.mit.edu 37 12 6559495 6559495 + Missense_Mutation SNP C C A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr12:6559495C>A ENST00000266557.3 + 3 654 c.425C>A c.(424-426)cCc>cAc p.P142H CD27-AS1_ENST00000399492.2_RNA|CD27-AS1_ENST00000545339.1_RNA|CD27_ENST00000541233.1_3'UTR NM_001242.4 NP_001233.1 P26842 CD27_HUMAN CD27 molecule 142 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3) 10 CACCCTCAGCCCACCCACTTA 0.602000 34 92 1.07637e-12 1.1797e-12 1 1 0 EFCAB12 90288 broad.mit.edu 37 3 129140502 129140502 + Missense_Mutation SNP T T C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr3:129140502T>C ENST00000505956.1 - 2 356 c.194A>G c.(193-195)aAg>aGg p.K65R EFCAB12_ENST00000326085.3_Missense_Mutation_p.K65R NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 CTGATCCTCCTTGCGAGGCAC 0.557000 15 30 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82875883 82875883 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr5:82875883G>A ENST00000265077.3 + 14 10530 c.9965G>A c.(9964-9966)aGa>aAa p.R3322K VCAN_ENST00000502527.2_Missense_Mutation_p.R581K|VCAN_ENST00000512590.2_Missense_Mutation_p.R1520K|VCAN_ENST00000342785.4_Missense_Mutation_p.R1568K|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Missense_Mutation_p.R2335K|VCAN-AS1_ENST00000513899.1_RNA NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3322 Sushi. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCCCTGATTAGATACCACTGC 0.438000 44 48 0 0 1 0 0 INTS5 80789 broad.mit.edu 37 11 62415004 62415004 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr11:62415004G>A ENST00000330574.2 - 2 2600 c.2548C>T c.(2548-2550)Cgc>Tgc p.R850C NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 850 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 TCGCGGAAGCGCCGGCCAATG 0.672000 30 88 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43833789 43833789 + Missense_Mutation SNP T T C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr12:43833789T>C ENST00000389420.3 - 17 2373 c.2374A>G c.(2374-2376)Aca>Gca p.T792A ADAMTS20_ENST00000553158.1_Missense_Mutation_p.T792A NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 792 Spacer. Missing (in Ref. 2; CAD56159/CAD56160). proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACAGTTCTTGTTCCTTGCACA 0.313000 6 9 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906835 129906835 + Missense_Mutation SNP C C G rs144881533 TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr10:129906835C>G ENST00000368654.3 - 13 3644 c.3269G>C c.(3268-3270)aGa>aCa p.R1090T MKI67_ENST00000368653.3_Missense_Mutation_p.R730T NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1090 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTTAGGCGTTCTTGGCCACTT 0.522000 36 161 0 0 1 0 0 FKBP10 60681 broad.mit.edu 37 17 39977976 39977976 + Silent SNP C C A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:39977976C>A ENST00000321562.4 + 9 1574 c.1470C>A c.(1468-1470)ccC>ccA p.P490P FKBP10_ENST00000544340.1_Silent_p.P263P NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 490 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) ATGGGCTGCCCACAGGCTACC 0.637000 29 87 1.13719e-10 1.23647e-10 1 1 0 SYNJ1 8867 broad.mit.edu 37 21 34011985 34011985 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr21:34011985C>T ENST00000382499.2 - 30 3809 c.3810G>A c.(3808-3810)tcG>tcA p.S1270S SYNJ1_ENST00000433931.2_Silent_p.S1270S|SYNJ1_ENST00000357345.3_Silent_p.S1215S|SYNJ1_ENST00000382491.3_Silent_p.S1184S|SYNJ1_ENST00000322229.7_Silent_p.S1231S NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 1231 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 ACCTACCTTTCGACGTTTCTG 0.527000 8 37 0 0 1 0 0 GPR61 83873 broad.mit.edu 37 1 110086714 110086714 + Missense_Mutation SNP T T C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:110086714T>C ENST00000527748.1 + 2 1753 c.1070T>C c.(1069-1071)gTc>gCc p.V357A NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 357 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) AAGCAGTTTGTCTGCTTCTTC 0.557000 36 47 0 0 1 0 0 TNFRSF14 8764 broad.mit.edu 37 1 2491372 2491372 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:2491372C>T ENST00000355716.4 + 4 714 c.415C>T c.(415-417)Cgc>Tgc p.R139C TNFRSF14_ENST00000409119.1_Missense_Mutation_p.R139C NM_003820.2 NP_003811.2 Q92956 TNR14_HUMAN tumor necrosis factor receptor superfamily, member 14 139 immune response|interspecies interaction between organisms|T cell costimulation tumor necrosis factor receptor activity kidney(1) 1 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) CGCCGCGTGCCGCGCTTACGC 0.701000 """Mis, N, F""" follicular lymphoma 16 7 0 0 1 0 0 CYP4Z1 199974 broad.mit.edu 37 1 47583530 47583530 + Missense_Mutation SNP G G T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:47583530G>T ENST00000334194.3 + 12 1445 c.1442G>T c.(1441-1443)aGg>aTg p.R481M CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4Z1_ENST00000471598.1_3'UTR NM_178134.2 NP_835235.1 Q86W10 CP4Z1_HUMAN cytochrome P450, family 4, subfamily Z, polypeptide 1 481 endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 11 GACCACTCAAGGCCTCCCCAG 0.453000 15 41 8.60227e-14 9.58139e-14 1 1 0 BMP3 651 broad.mit.edu 37 4 81967536 81967536 + Missense_Mutation SNP T T C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr4:81967536T>C ENST00000282701.2 + 2 1281 c.961T>C c.(961-963)Tac>Cac p.Y321H NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 321 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 GAGAAAGCCTTACAAGACCCT 0.502000 6 41 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88578209 88578209 + Missense_Mutation SNP C C T rs138537025 byFrequency TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr4:88578209C>T ENST00000339673.6 + 3 179 c.80C>T c.(79-81)tCt>tTt p.S27F RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.S27F NM_004407.3 NP_004398.1 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 27 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) AATAATGAATCTGAGGATTCT 0.254000 9 36 0 0 1 0 0 HERC2P2 400322 broad.mit.edu 37 15 23300139 23300139 + RNA SNP G G C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr15:23300139G>C ENST00000560464.1 - 0 4148 CGAAGGGTGAGTGGACTCCAC 0.602000 7 26 0 0 1 0 0 HCG17 414778 broad.mit.edu 37 6 30227442 30227442 + RNA SNP T T G TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr6:30227442T>G ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA CTGCTGCTCTTGGGGGCCCTG 0.706000 3 33 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94043231 94043231 + Silent SNP T T A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr5:94043231T>A ENST00000515393.1 - 23 2969 c.2970A>T c.(2968-2970)ccA>ccT p.P990P MCTP1_ENST00000312216.8_Silent_p.P769P|MCTP1_ENST00000514040.1_Intron|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000505078.1_Silent_p.P506P|MCTP1_ENST00000429576.2_Silent_p.P683P NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 990 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TTCTTTTATATGGGCTATGAG 0.458000 31 42 0 0 1 0 0 CXCL1 2919 broad.mit.edu 37 4 74735639 74735639 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr4:74735639G>A ENST00000395761.3 + 3 308 c.241G>A c.(241-243)Ggg>Agg p.G81R CXCL1_ENST00000509101.1_3'UTR NM_001511.3 NP_001502.1 P09341 GROA_HUMAN chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) 81 actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development extracellular space|intracellular chemokine activity|enzyme activator activity|growth factor activity lung(2) 2 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) ACTCAAGAATGGGCGGAAAGC 0.567000 30 63 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46245684 46245684 + Nonsense_Mutation SNP G G T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr12:46245684G>T ENST00000334344.6 + 15 3950 c.3778G>T c.(3778-3780)Gaa>Taa p.E1260* ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.E870*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.E1111* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1260 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ACATGTTCATGAACGTAAAAT 0.433000 """N, S, F""" hepatocellular carcinoma 22 54 1.55795e-14 1.7495e-14 1 1 0 DNM1 1759 broad.mit.edu 37 9 130982551 130982551 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr9:130982551C>T ENST00000341179.7 + 6 872 c.780C>T c.(778-780)ctC>ctT p.L260L DNM1_ENST00000475805.1_Silent_p.L260L|DNM1_ENST00000486160.1_Silent_p.L260L|DNM1_ENST00000393594.3_Silent_p.L260L|DNM1_ENST00000372923.3_Silent_p.L260L NM_001005336.1 NP_001005336.1 Q05193 DYN1_HUMAN dynamin 1 260 receptor-mediated endocytosis microtubule GTP binding|GTPase activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 AGTTCTTCCTCTCCCATCCAT 0.567000 88 101 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88768568 88768568 + RNA SNP G G C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr10:88768568G>C ENST00000444431.1 + 0 3168 RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase activating protein 11 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding GCCATCCCTAGCCACATCGGC 0.463000 58 103 0 0 1 0 0 LPGAT1 9926 broad.mit.edu 37 1 211966515 211966515 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:211966515C>T ENST00000366997.4 - 3 482 c.256G>A c.(256-258)Gat>Aat p.D86N LPGAT1_ENST00000366996.1_Missense_Mutation_p.D86N NM_014873.2 NP_055688.1 Q92604 LGAT1_HUMAN lysophosphatidylglycerol acyltransferase 1 86 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114) GCTTTAATATCTTCTCCCCAT 0.348000 18 163 0 0 1 0 0 QRICH2 84074 broad.mit.edu 37 17 74288000 74288000 + Silent SNP G G T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:74288000G>T ENST00000262765.5 - 4 2489 c.2310C>A c.(2308-2310)gcC>gcA p.A770A NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 770 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CAAGAGGATAGGCACCAGGTT 0.517000 5 167 4.096e-09 4.41852e-09 1 1 0 IGHV3-66 28412 broad.mit.edu 37 14 107131463 107131463 + RNA SNP A A C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr14:107131463A>C ENST00000390632.2 - 0 97 AGGAAAACCCAGCTCAGCCCA 0.488000 56 144 0 0 1 0 0 KCNQ5 56479 broad.mit.edu 37 6 73834251 73834251 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr6:73834251C>T ENST00000370392.1 + 9 1347 c.1263C>T c.(1261-1263)ctC>ctT p.L421L KCNQ5_ENST00000414165.2_Intron|KCNQ5_ENST00000355194.4_Intron|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000402622.2_Intron|KCNQ5_ENST00000342056.2_Intron|KCNQ5_ENST00000370398.1_Intron|KCNQ5_ENST00000403813.2_Intron Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 0 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) TGATTTCTCTCTTGCTACATG 0.363000 16 60 0 0 1 0 0 LRP6 4040 broad.mit.edu 37 12 12397432 12397432 + Missense_Mutation SNP G G T rs145354281 byFrequency TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr12:12397432G>T ENST00000261349.4 - 2 289 c.213C>A c.(211-213)agC>agA p.S71R LRP6_ENST00000543091.1_Missense_Mutation_p.S71R NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 71 Beta-propeller 1. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) TGGCTTCTTCGCTGACATCAC 0.453000 4 61 0.150653 0.151761 1 1 0 AOC1 26 broad.mit.edu 37 7 150557702 150557702 + Missense_Mutation SNP A A T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr7:150557702A>T ENST00000493429.1 + 6 2554 c.1970A>T c.(1969-1971)aAc>aTc p.N657I AOC1_ENST00000467291.1_Missense_Mutation_p.N657I|AOC1_ENST00000360937.4_Missense_Mutation_p.N657I|AOC1_ENST00000416793.2_Missense_Mutation_p.N676I|AOC1_ENST00000480582.1_3'UTR amine oxidase, copper containing 1 CTTCACAACAACGAGAACATT 0.597000 31 84 0 0 1 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812859 31812859 + Nonsense_Mutation SNP C C T rs145057150 TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr21:31812859C>T ENST00000334067.3 + 1 263 c.214C>T c.(214-216)Cag>Tag p.Q72* NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 72 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 CAGATCCTATCAGACATCCTG 0.512000 47 85 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89937127 89937127 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr7:89937127G>A ENST00000389297.4 + 21 2760 c.2509G>A c.(2509-2511)Gaa>Aaa p.E837K C7orf63_ENST00000316089.8_Missense_Mutation_p.E791K|C7orf63_ENST00000497910.1_Missense_Mutation_p.E819K NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 837 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 TAAATCATGGGAAGATTTCTT 0.328000 15 35 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14277196 14277196 + RNA SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr11:14277196C>T ENST00000310358.7 + 0 1631 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) CTTGCAGTCACCCAACAAACC 0.473000 32 115 0 0 1 0 0 COPRS 55352 broad.mit.edu 37 17 30179888 30179888 + Missense_Mutation SNP C C A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:30179888C>A ENST00000378634.2 - 3 545 c.292G>T c.(292-294)Gat>Tat p.D98Y COPRS_ENST00000302362.6_Missense_Mutation_p.D110Y coordinator of PRMT5, differentiation stimulator TTAAAAAGATCGCCAGGCTGT 0.517000 64 194 2.18419e-29 2.53589e-29 1 1 0 DBH 1621 broad.mit.edu 37 9 136508639 136508639 + Silent SNP C C T rs78200745 TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr9:136508639C>T ENST00000393056.2 + 4 861 c.849C>T c.(847-849)tgC>tgT p.C283C NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 283 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) GCGGGCCCTGCGACTCCAAGA 0.662000 28 114 0 0 1 0 0 SLC16A9 220963 broad.mit.edu 37 10 61414210 61414210 + Nonsense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr10:61414210G>A ENST00000395348.3 - 5 1210 c.574C>T c.(574-576)Caa>Taa p.Q192* SLC16A9_ENST00000395347.1_Nonsense_Mutation_p.Q192* NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 192 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 TCAGAAGATTGGAGGGGTCTC 0.398000 22 92 0 0 1 0 0 KAT7 11143 broad.mit.edu 37 17 47886546 47886546 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:47886546C>T ENST00000503935.2 + 6 1297 c.261C>T c.(259-261)aaC>aaT p.N87N KAT7_ENST00000435742.2_Intron|KAT7_ENST00000424009.2_Intron|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000509773.1_Intron|KAT7_ENST00000454930.2_Silent_p.N104N|KAT7_ENST00000259021.4_Silent_p.N243N O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 243 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding AAGATGACAACAACAGGCATG 0.478000 13 34 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35604999 35604999 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:35604999C>T ENST00000353139.5 - 18 2726 c.2245G>A c.(2245-2247)Ggt>Agt p.G749S ACACA_ENST00000394406.2_Missense_Mutation_p.G712S|ACACA_ENST00000360679.3_Missense_Mutation_p.G654S|ACACA_ENST00000335166.5_Missense_Mutation_p.G634S NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 712 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) AGCAGTCCACCGTCACTCAGC 0.473000 9 59 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17716877 17716877 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr19:17716877C>T ENST00000428389.2 - 45 5361 c.5362G>A c.(5362-5364)Gcg>Acg p.A1788T UNC13A_ENST00000551649.1_Missense_Mutation_p.A1719T|UNC13A_ENST00000552293.1_Missense_Mutation_p.A1694T|UNC13A_ENST00000252773.7_Missense_Mutation_p.A1700T|UNC13A_ENST00000550896.1_Missense_Mutation_p.A1673T|UNC13A_ENST00000519716.2_Missense_Mutation_p.A1700T Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1700 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 GGCGCAGGCGCGGCACCGCCC 0.736000 9 6 0 0 1 0 0 TGOLN2 10618 broad.mit.edu 37 2 85554304 85554304 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr2:85554304G>A ENST00000377386.3 - 2 1013 c.551C>T c.(550-552)gCg>gTg p.A184V TGOLN2_ENST00000409232.3_Missense_Mutation_p.A184V|TGOLN2_ENST00000409015.1_Missense_Mutation_p.A184V|TGOLN2_ENST00000398263.2_Missense_Mutation_p.A184V|TGOLN2_ENST00000444342.2_Missense_Mutation_p.A184V|TGOLN2_ENST00000282120.2_Missense_Mutation_p.A86V O43493 TGON2_HUMAN trans-golgi network protein 2 184 14 X 14 AA tandem repeats. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding CTGGCCGTCCGCACCCGACTT 0.587000 7 658 0 0 1 0 0 PQLC2 54896 broad.mit.edu 37 1 19652808 19652808 + Missense_Mutation SNP C C A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:19652808C>A ENST00000375153.3 + 5 1092 c.452C>A c.(451-453)gCt>gAt p.A151D PQLC2_ENST00000375155.3_Missense_Mutation_p.A151D|PQLC2_ENST00000400548.2_Missense_Mutation_p.A86D NM_001040125.1 NP_001035214.1 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 151 integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTGCTGAGTGCTGCTGGGCCC 0.677000 3 34 1 1 1 1 0 CYP2C8 1558 broad.mit.edu 37 10 96796914 96796914 + Missense_Mutation SNP A A G TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr10:96796914A>G ENST00000371270.3 - 9 1538 c.1444T>C c.(1444-1446)Tca>Cca p.S482P CYP2C8_ENST00000535898.1_Missense_Mutation_p.S380P NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 482 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) ATCTGGTATGAGGGTGGCAGA 0.418000 3 47 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1016697 1016697 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr11:1016697G>A ENST00000421673.2 - 31 6154 c.6104C>T c.(6103-6105)tCt>tTt p.S2035F NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 2035 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GATGGAGGCAGAAGTGGCCAT 0.567000 72 516 0 0 1 0 0 CYB5RL 606495 broad.mit.edu 37 1 54640384 54640384 + Missense_Mutation SNP C C A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:54640384C>A ENST00000419823.2 - 7 1080 c.856G>T c.(856-858)Gca>Tca p.A286S CYB5RL_ENST00000401046.3_Missense_Mutation_p.A138S|CYB5RL_ENST00000542737.1_Missense_Mutation_p.A286S|CYB5RL_ENST00000537208.1_Missense_Mutation_p.A218S|RP11-446E24.4_ENST00000311841.7_Intron|CYB5RL_ENST00000534324.1_Missense_Mutation_p.A286S|CYB5RL_ENST00000287899.8_Missense_Mutation_p.A218S NM_001031672.2 NP_001026842.2 Q6IPT4 NB5R5_HUMAN cytochrome b5 reductase-like 286 cytochrome-b5 reductase activity p.A286T(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1) 8 CAGACCAGTGCGAATGGCTTT 0.552000 9 26 3.86212e-05 4.00841e-05 1 1 0 ABCC12 94160 broad.mit.edu 37 16 48174625 48174625 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr16:48174625C>T ENST00000311303.3 - 4 975 c.630G>A c.(628-630)aaG>aaA p.K210K ABCC12_ENST00000448542.1_Silent_p.K210K|ABCC12_ENST00000416054.1_Silent_p.K210K NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 210 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GGGTCAATGTCTTGAAGGACA 0.517000 72 167 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296403 145296403 + Silent SNP C C T rs4996269 by1000genomes TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:145296403C>T ENST00000342960.5 + 3 360 c.325C>T c.(325-327)Cta>Tta p.L109L NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 109 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GCTGACCCAGCTAAGGGAGAA 0.517000 5 304 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72332273 72332273 + Missense_Mutation SNP G G T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr4:72332273G>T ENST00000340595.3 + 10 1674 c.1478G>T c.(1477-1479)aGg>aTg p.R493M SLC4A4_ENST00000264485.5_Missense_Mutation_p.R537M|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.R493M|SLC4A4_ENST00000351898.6_Missense_Mutation_p.R537M|SLC4A4_ENST00000425175.1_Missense_Mutation_p.R537M NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 537 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GTTTTTGAGAGGCTTCTATTT 0.393000 23 51 2.70639e-06 2.87423e-06 1 1 0 AK5 26289 broad.mit.edu 37 1 77752791 77752791 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:77752791C>T ENST00000344720.5 + 2 1174 c.148C>T c.(148-150)Cgg>Tgg p.R50W AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.R76W NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 76 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 AGGACAGTCACGGAGATCCTT 0.368000 18 50 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129171430 129171430 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chrX:129171430C>T ENST00000540052.1 + 8 4438 c.4394C>T c.(4393-4395)tCc>tTc p.S1465F BCORL1_ENST00000303743.5_Missense_Mutation_p.S1539F|BCORL1_ENST00000218147.7_Missense_Mutation_p.S1465F|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1335F NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1465 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 GAGGCTTGTTCCCGGGGCTGG 0.592000 35 31 0 0 1 0 0 SLC25A17 10478 broad.mit.edu 37 22 41169986 41169986 + Missense_Mutation SNP A A G TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr22:41169986A>G ENST00000402844.3 - 4 1465 c.485T>C c.(484-486)tTg>tCg p.L162S SLC25A17_ENST00000542412.1_Missense_Mutation_p.L171S|SLC25A17_ENST00000435456.2_Missense_Mutation_p.L244S|SLC25A17_ENST00000544408.1_Missense_Mutation_p.L207S|SLC25A17_ENST00000491545.1_5'UTR O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 244 fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 AAGACTTCCCAATGTTCTGTT 0.413000 11 46 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308937 248308937 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:248308937C>T ENST00000366476.1 + 1 488 c.488C>T c.(487-489)aCa>aTa p.T163I NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 163 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GCTGTAGCGACATTTTCCTTC 0.443000 84 223 0 0 1 0 0 FKBP10 60681 broad.mit.edu 37 17 39974425 39974425 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:39974425G>A ENST00000321562.4 + 3 580 c.476G>A c.(475-477)aGc>aAc p.S159N NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 159 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) GTGCAGGTGAGCACATTGCTG 0.622000 8 40 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81732999 81732999 + Silent SNP A A G TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr12:81732999A>G ENST00000550584.2 - 20 2803 c.2508T>C c.(2506-2508)cgT>cgC p.R836R PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Silent_p.R818R|PPFIA2_ENST00000443686.3_Silent_p.R737R|PPFIA2_ENST00000407050.4_Silent_p.R762R|PPFIA2_ENST00000541017.1_Silent_p.R53R|PPFIA2_ENST00000541570.2_Silent_p.R403R|PPFIA2_ENST00000549396.1_Silent_p.R836R|PPFIA2_ENST00000548586.1_Silent_p.R836R|PPFIA2_ENST00000552948.1_Silent_p.R836R|PPFIA2_ENST00000333447.7_Silent_p.R818R|PPFIA2_ENST00000550359.2_Silent_p.R683R NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 762 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TACCAAACAAACGTCCTATTG 0.458000 30 99 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcagcagcaacaacagc 0.562000 4 68 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6704223 6704223 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:6704223C>T ENST00000338694.2 - 7 1021 c.892G>A c.(892-894)Gct>Act p.A298T TEKT1_ENST00000535086.1_Missense_Mutation_p.A152T NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 298 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TTTTCAAGAGCTGTAATATTT 0.512000 16 109 0 0 1 0 0 DLX5 1749 broad.mit.edu 37 7 96651526 96651526 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr7:96651526C>T ENST00000222598.4 - 2 984 c.511G>A c.(511-513)Gcc>Acc p.A171T DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.A171T NM_005221.5 NP_005212.1 P56178 DLX5_HUMAN distal-less homeobox 5 171 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1) 20 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) AGCGAGGCGGCCAGCTCGGCG 0.567000 26 98 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180772700 180772700 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:180772700G>A ENST00000367590.4 + 4 598 c.400G>A c.(400-402)Gcc>Acc p.A134T XPR1_ENST00000367589.3_Missense_Mutation_p.A134T NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 134 SPX. integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 CCTTAAACTGGCCTTCAGTGA 0.423000 28 83 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21781651 21781651 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr7:21781651C>T ENST00000328843.6 + 50 8073 c.8042C>T c.(8041-8043)tCa>tTa p.S2681L DNAH11_ENST00000409508.3_Missense_Mutation_p.S2674L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2681 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTTGCTCCATCAATTCTCAGG 0.408000 Kartagener syndrome 24 44 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92474060 92474060 + Missense_Mutation SNP T T C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr14:92474060T>C ENST00000267622.4 - 10 1824 c.1451A>G c.(1450-1452)aAt>aGt p.N484S NM_004239.3 NP_004230.2 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 484 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) AATACTCTGATTGAGTTCTTG 0.328000 T PDGFRB AML 23 44 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138657566 138657566 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr6:138657566C>T ENST00000251691.4 + 34 6643 c.6477C>T c.(6475-6477)cgC>cgT p.R2159R NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 2159 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) TCAGAGTTCGCCAGGCTGTGA 0.572000 54 68 0 0 1 0 0 ANXA1 301 broad.mit.edu 37 9 75775728 75775728 + Missense_Mutation SNP A A G TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr9:75775728A>G ENST00000376911.1 + 5 1276 c.394A>G c.(394-396)Act>Gct p.T132A ANXA1_ENST00000257497.6_Missense_Mutation_p.T132A P04083 ANXA1_HUMAN annexin A1 132 alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5) 8 all_epithelial(88;2.54e-11) OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325) Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620) GGGCCTTGGAACTGATGAAGA 0.348000 23 110 0 0 1 0 0 CCDC102A 92922 broad.mit.edu 37 16 57559864 57559864 + Missense_Mutation SNP G G C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr16:57559864G>C ENST00000258214.2 - 3 1007 c.761C>G c.(760-762)gCc>gGc p.A254G NM_033212.3 NP_149989.2 Q96A19 C102A_HUMAN coiled-coil domain containing 102A 254 endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 8 TAGCCGCAGGGCGGTCAACTT 0.721000 9 27 0 0 1 0 0 HOXB5 3215 broad.mit.edu 37 17 46670537 46670537 + Missense_Mutation SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:46670537C>T ENST00000239151.5 - 1 786 c.508G>A c.(508-510)Gag>Aag p.E170K HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA NM_002147.3 NP_002138.1 P09067 HXB5_HUMAN homeobox B5 170 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 GTCTGCCCCTCGGGCGCGGCT 0.607000 23 71 0 0 1 0 0 LRP3 4037 broad.mit.edu 37 19 33698459 33698459 + Missense_Mutation SNP A A T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr19:33698459A>T ENST00000253193.7 + 7 2493 c.2291A>T c.(2290-2292)gAt>gTt p.D764V NM_002333.3 NP_002324.2 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 3 764 receptor-mediated endocytosis coated pit|integral to membrane receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2) 15 Esophageal squamous(110;0.137) GCCAGCGATGATGAGGCCCTG 0.657000 9 26 0 0 1 0 0 E2F3 1871 broad.mit.edu 37 6 20490660 20490660 + Nonstop_Mutation SNP G G C TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr6:20490660G>C ENST00000346618.3 + 7 1463 c.1397G>C c.(1396-1398)tGa>tCa p.*466S E2F3_ENST00000535432.1_Nonstop_Mutation_p.*335S NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 0 G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) ATGTGTAGTTGATTATGCTTC 0.458000 48 55 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179587386 179587386 + Splice_Site SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr2:179587386C>T ENST00000589042.1 - 76 22464 c.22240_splice c.e76+1 p.E7414_splice TTN_ENST00000591111.1_Splice_Site_p.E7097_splice|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site_p.E6170_splice|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7097 Ig-like 56. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATATCATCACCTTGAATTCTG 0.303000 9 17 0 0 1 0 0 RGPD1 400966 broad.mit.edu 37 2 87141032 87141032 + Silent SNP G G T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr2:87141032G>T ENST00000398193.3 + 1 98 c.60G>T c.(58-60)ccG>ccT p.P20P RGPD1_ENST00000409776.2_Intron Q68DN6 RGPD1_HUMAN RANBP2-like and GRIP domain containing 1 0 intracellular transport binding breast(1)|endometrium(1)|lung(1) 3 GCTCCGCCCCGTCGCCTGGAA 0.736000 4 7 0.014758 0.0149766 1 1 0 OR6T1 219874 broad.mit.edu 37 11 123813778 123813778 + Silent SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr11:123813778G>A ENST00000321252.2 - 1 802 c.768C>T c.(766-768)atC>atT p.I256I NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TGTAGAGAAAGATGGAACTGC 0.517000 41 86 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130776 45130776 + Missense_Mutation SNP C C G TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr20:45130776C>G ENST00000457685.2 - 6 2411 c.1088G>C c.(1087-1089)gGg>gCg p.G363A ZNF334_ENST00000593880.1_Missense_Mutation_p.G424A|ZNF334_ENST00000347606.4_Missense_Mutation_p.G401A Q9HCZ1 ZN334_HUMAN zinc finger protein 334 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) GGGTTTTTCCCCTGTGTGAAT 0.433000 14 110 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78582051 78582051 + Silent SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr12:78582051G>A ENST00000397909.2 + 32 5987 c.5814G>A c.(5812-5814)ttG>ttA p.L1938L NAV3_ENST00000536525.2_Silent_p.L1916L|NAV3_ENST00000266692.7_Silent_p.L1739L|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Silent_p.L1916L Q8IVL0 NAV3_HUMAN neuron navigator 3 1938 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.L1916F(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 AGGCATATTTGATAGGATCCA 0.323000 HNSCC(70;0.22) 19 56 0 0 1 0 0 SLC35A5 55032 broad.mit.edu 37 3 112301521 112301521 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr3:112301521G>A ENST00000492406.1 + 7 1496 c.1213G>A c.(1213-1215)Gga>Aga p.G405R SLC35A5_ENST00000460713.1_3'UTR NM_017945.2 NP_060415.1 Q9BS91 S35A5_HUMAN solute carrier family 35, member A5 405 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1) 11 CTTTTAGGATGGAGAAGAACT 0.363000 16 38 0 0 1 0 0 NCOA6 23054 broad.mit.edu 37 20 33345744 33345744 + Silent SNP C C T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr20:33345744C>T ENST00000374796.2 - 8 3377 c.807G>A c.(805-807)caG>caA p.Q269Q NCOA6_ENST00000359003.2_Silent_p.Q269Q Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 269 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding p.Q269Q(15) NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 gctgctgctgctgttgttgtt 0.537000 4 47 0 0 1 0 0 GFAP 2670 broad.mit.edu 37 17 42992568 42992568 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:42992568G>A ENST00000253408.5 - 1 352 c.287C>T c.(286-288)gCg>gTg p.A96V GFAP_ENST00000435360.2_Missense_Mutation_p.A96V|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.A96V NM_002055.4 NP_002046.1 P14136 GFAP_HUMAN glial fibrillary acidic protein 96 Coil 1A.|Rod. cytoplasm|intermediate filament structural constituent of cytoskeleton endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 Prostate(33;0.0959) AGCAGCCAGCGCCTTGTTTTG 0.612000 11 51 0 0 1 0 0 TYSND1 219743 broad.mit.edu 37 10 71902510 71902510 + Missense_Mutation SNP G G A TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr10:71902510G>A ENST00000287078.6 - 3 1396 c.1397C>T c.(1396-1398)aCg>aTg p.T466M TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_Intron NM_173555.2 NP_775826.2 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 466 Serine protease. proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 CATTACGGGCGTGCCATTCAC 0.612000 4 37 0 0 1 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6530577 6530577 + Frame_Shift_Del DEL C C - TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr1:6530577delC ENST00000377748.1 - 16 2397 c.1900delG c.(1900-1902)aafs p.E634fs PLEKHG5_ENST00000535355.1_Frame_Shift_Del_p.E626fs|PLEKHG5_ENST00000537245.1_Frame_Shift_Del_p.E636fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000544978.1_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Del_p.E594fs|PLEKHG5_ENST00000377740.3_Frame_Shift_Del_p.E634fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000400913.1_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000377725.1_Frame_Shift_Del_p.E557fs|PLEKHG5_ENST00000400915.3_Frame_Shift_Del_p.E613fs NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 613 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) TTGTCCACTTCGTCGCTGCTG 0.687 32 72 --- --- --- --- CCT6P1 643253 broad.mit.edu 37 7 65226568 65226569 + RNA INS - - T TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr7:65226568_65226569insT ENST00000442266.1 + 0 1167 tgcccggccCCttttttttttt 0.411 3 4 --- --- --- --- STEAP2-AS1 100874100 broad.mit.edu 37 7 89748927 89748928 + RNA INS - - C rs138239781 by1000genomes TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr7:89748927_89748928insC ENST00000478318.2 - 0 424 DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA GGTGCGGGCCTCCCCCTTCCCC 0.639 2 4 --- --- --- --- CD276 80381 broad.mit.edu 37 15 74003500 74003500 + Frame_Shift_Del DEL A A - TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr15:74003500delA ENST00000318443.5 + 9 1873 c.1571delA c.(1570-1572)gcfs p.D524fs CD276_ENST00000318424.5_Frame_Shift_Del_p.D306fs|CD276_ENST00000564751.1_Frame_Shift_Del_p.D306fs|CD276_ENST00000561213.1_Frame_Shift_Del_p.D524fs|CD276_ENST00000537340.2_Frame_Shift_Del_p.D378fs NM_001024736.1 NP_001019907.1 Q5ZPR3 CD276_HUMAN CD276 molecule 524 cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 AAACACTCTGACAGCAAAGAA 0.542 8 96 --- --- --- --- SUZ12P1 440423 broad.mit.edu 37 17 29086616 29086616 + RNA DEL A A - TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:29086616delA ENST00000582557.1 + 0 1064 TTGTGAATGTAAAAAAAAAGT 0.299 2 4 --- --- --- --- EVPL 2125 broad.mit.edu 37 17 74003394 74003407 + Frame_Shift_Del DEL GATCATCCCGGAGA GATCATCCCGGAGA - TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr17:74003394_74003407delGATCATCCCGGAGA ENST00000301607.3 - 22 6132_6145 c.5879_5892delTCTCCGGGATGATC c.(5878-5892)cfs p.LSGMI1960fs EVPL_ENST00000586740.1_Frame_Shift_Del_p.LSGMI1982fs NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1960 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GCTCTTCACTGATCATCCCGGAGAGGAGGGCCTG 0.640 30 86 --- --- --- --- CACNA1A 773 broad.mit.edu 37 19 13441114 13441114 + Frame_Shift_Del DEL G G - TCGA-D6-A6EQ-01A-11D-A31L-08 TCGA-D6-A6EQ-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 60d93b0a-f054-48cc-b0ae-03e05a209007 0c2dab79-6367-4c3e-9e98-1ab522d61c7b g.chr19:13441114delG ENST00000360228.5 - 10 1288 c.1289delC c.(1288-1290)aafs p.T430fs CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.T431fs NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 431 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAGCAAATCTGTCTTGCTTTT 0.478 2 4 --- --- --- ---