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 PDZD4 57595 broad.mit.edu 37 X 153069795 153069795 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:153069795G>A ENST00000164640.4 - 8 1514 c.1323C>T c.(1321-1323)taC>taT p.Y441Y PDZD4_ENST00000393758.2_Silent_p.Y366Y|PDZD4_ENST00000544474.1_Silent_p.Y332Y NM_032512.2 NP_115901.2 Q76G19 PDZD4_HUMAN PDZ domain containing 4 441 cell cortex p.Y441Y(1) breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGCCAGGTCGTAGAGGCTCT 0.627000 4 32 0 0 0.001984 0 0 KLHL22 84861 broad.mit.edu 37 22 20819222 20819222 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:20819222C>A ENST00000328879.4 - 4 1191 c.1035G>T c.(1033-1035)gcG>gcT p.A345A KLHL22_ENST00000440659.2_Silent_p.A202A NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 345 cell division Cul3-RING ubiquitin ligase complex p.A345A(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TGTTGAGCACCGCGATGCCCT 0.567000 42 143 5.34276e-22 8.77803e-22 0.003610 1 0 KIF1A 547 broad.mit.edu 37 2 241727624 241727624 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:241727624C>A ENST00000498729.2 - 4 453 c.207G>T c.(205-207)tcG>tcT p.S69S KIF1A_ENST00000320389.7_Silent_p.S69S NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 69 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity p.S69S(1) NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CCTGCTTCTGCGACGCGTAGT 0.602000 7 21 0.000157383 0.000179787 0.003080 1 0 IRX6 79190 broad.mit.edu 37 16 55360341 55360341 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:55360341C>T ENST00000290552.7 + 2 1471 c.139C>T c.(139-141)Ctc>Ttc p.L47F RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 47 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L47F(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 AGCGCCCGCTCTCTGCTGCGC 0.637000 5 25 0 0 0.001168 0 0 SALL4 57167 broad.mit.edu 37 20 50408003 50408003 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:50408003C>T ENST00000217086.4 - 2 1130 c.1019G>A c.(1018-1020)gGc>gAc p.G340D SALL4_ENST00000395997.3_Missense_Mutation_p.G340D|SALL4_ENST00000371539.3_Intron NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 340 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G340D(1) endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GAGCACCGAGCCCGGGGCCTG 0.637000 5 108 0 0 0.000602 0 0 OR6K3 391114 broad.mit.edu 37 1 158687103 158687103 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:158687103A>G ENST00000368146.1 - 1 850 c.851T>C c.(850-852)gTt>gCt p.V284A OR6K3_ENST00000368145.1_Missense_Mutation_p.V268A Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V284A(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TGTGTCCAAAACTGGTGGATA 0.433000 4 223 0 0 0.009096 0 0 OR9A4 130075 broad.mit.edu 37 7 141619029 141619029 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:141619029G>T ENST00000548136.1 + 1 413 c.354G>T c.(352-354)atG>atT p.M118I MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M118I(1) NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TTGGAGCAATGGCTGTGGACC 0.478000 83 152 2.13431e-38 3.70073e-38 0.003610 1 0 PTPRD 5789 broad.mit.edu 37 9 8485784 8485784 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:8485784G>A ENST00000381196.4 - 25 3576 c.3033C>T c.(3031-3033)ttC>ttT p.F1011F PTPRD_ENST00000356435.5_Silent_p.F1011F|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.F1011F|PTPRD_ENST00000360074.4_Silent_p.F998F|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Silent_p.F989F|PTPRD_ENST00000355233.5_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1011 Fibronectin type-III 7. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.F1011F(2) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCAGTGTCCTGAACTGGACAC 0.448000 TSP Lung(15;0.13) 4 15 0 0 0.001984 0 0 CACTIN 58509 broad.mit.edu 37 19 3624101 3624101 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:3624101C>G ENST00000429344.2 - 2 279 c.227G>C c.(226-228)cGg>cCg p.R76P CACTIN_ENST00000248420.5_Missense_Mutation_p.R76P|CACTIN_ENST00000221899.3_Missense_Mutation_p.R8P NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit p.R8P(1)|p.R76P(1) CCACTTGGGCCGCGGGGGGCT 0.677000 4 167 0 0 0.001168 0 0 MTHFD2P1 100287639 broad.mit.edu 37 3 95374256 95374256 + RNA SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:95374256G>A ENST00000494840.1 - 0 1605 NR_077228.1 AACAATTTTTGACCTTCCAGT 0.453000 11 52 0 0 0.008291 0 0 TIMM50 92609 broad.mit.edu 37 19 39978750 39978750 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:39978750G>T ENST00000314349.4 + 9 1188 c.1055G>T c.(1054-1056)tGc>tTc p.C352F TIMM50_ENST00000607714.1_Missense_Mutation_p.C249F|TIMM50_ENST00000544017.1_Missense_Mutation_p.C136F|TIMM50_ENST00000599794.1_Missense_Mutation_p.C53F NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 249 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding p.C352F(1) NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GTTGTGGACTGCAAGAAGGAA 0.562000 62 328 1.19553e-41 2.08412e-41 0.003610 1 0 PHACTR1 221692 broad.mit.edu 37 6 13206311 13206311 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:13206311G>A ENST00000379350.1 + 7 1058 c.929G>A c.(928-930)tGc>tAc p.C310Y PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Missense_Mutation_p.C310Y|PHACTR1_ENST00000457702.2_Missense_Mutation_p.C165Y Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 310 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity p.C310Y(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) CCCTCGGGCTGCAGAATGATA 0.637000 4 25 0 0 0.000602 0 0 PAK7 57144 broad.mit.edu 37 20 9546831 9546831 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:9546831C>A ENST00000378429.3 - 6 1737 c.1191G>T c.(1189-1191)acG>acT p.T397T PAK7_ENST00000378423.1_Silent_p.T397T|PAK7_ENST00000353224.5_Silent_p.T397T NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 397 Linker. ATP binding|protein binding|protein serine/threonine kinase activity p.T397T(1) NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GGTAGGAAGCCGTGGAGATGT 0.622000 6 165 0.00116845 0.00129221 0.001168 1 0 ALDH8A1 64577 broad.mit.edu 37 6 135253996 135253996 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:135253996C>T ENST00000265605.2 - 5 835 c.767G>A c.(766-768)gGc>gAc p.G256D ALDH8A1_ENST00000367845.2_Missense_Mutation_p.G256D|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.G206D NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 256 retinal metabolic process cytoplasm retinal dehydrogenase activity p.G256D(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) AGGATTCTTGCCCCCCAGCTC 0.622000 5 135 0 0 0.000602 0 0 APOB 338 broad.mit.edu 37 2 21227177 21227177 + Silent SNP G G A rs12713501 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:21227177G>A ENST00000233242.1 - 28 12178 c.12051C>T c.(12049-12051)gaC>gaT p.D4017D NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4017 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.D4017D(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TAGAAAAGTCGTCATCTTCAT 0.512000 25 64 0 0 0.007291 0 0 NISCH 11188 broad.mit.edu 37 3 52505828 52505828 + Splice_Site SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:52505828A>G ENST00000345716.4 + 5 543 c.e5-1 NISCH_ENST00000420808.2_Splice_Site|NISCH_ENST00000479054.1_Splice_Site|NISCH_ENST00000488380.1_Splice_Site NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity p.?(1) NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) TGGCTCTTGCAGGAGAACAGC 0.617000 8 23 0 0 0.006214 0 0 SCAMP5 192683 broad.mit.edu 37 15 75310808 75310808 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:75310808G>T ENST00000361900.6 + 7 652 c.445G>T c.(445-447)Gtg>Ttg p.V149L SCAMP5_ENST00000562212.1_Missense_Mutation_p.V157L|SCAMP5_ENST00000545456.1_Missense_Mutation_p.V78L|SCAMP5_ENST00000425597.3_Missense_Mutation_p.V149L|SCAMP5_ENST00000568081.1_Missense_Mutation_p.V82L NM_001178111.1 NP_001171582.1 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 149 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding p.V157L(1)|p.V149L(1) large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 TGGCTCGGCGGTGGTGATGCT 0.582000 13 106 9.31168e-06 1.11488e-05 0.001855 1 0 FASTKD1 79675 broad.mit.edu 37 2 170403036 170403036 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:170403036C>A ENST00000453153.2 - 8 1739 c.1393G>T c.(1393-1395)Gat>Tat p.D465Y FASTKD1_ENST00000453929.2_Missense_Mutation_p.D465Y NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 465 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity p.D465Y(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 TACATGTGATCATGCTGAATC 0.398000 17 118 4.14922e-12 6.04938e-12 0.004007 1 0 STEAP1 26872 broad.mit.edu 37 7 89790136 89790136 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:89790136G>C ENST00000297205.2 + 3 302 c.102G>C c.(100-102)gaG>gaC p.E34D STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 34 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity p.E34D(1) kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) ACACGGGAGAGACCAGCATGC 0.388000 19 154 0 0 0.010504 0 0 ZNF253 56242 broad.mit.edu 37 19 20003499 20003499 + Silent SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:20003499A>C ENST00000589717.1 + 4 1535 c.1443A>C c.(1441-1443)atA>atC p.I481I ZNF253_ENST00000355650.4_Silent_p.I405I|CTC-559E9.8_ENST00000585571.1_RNA NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 481 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I453I(1)|p.I481I(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AACCCTACATAGTGAAGAATG 0.338000 4 78 0 0 0.009096 0 0 KRT75 9119 broad.mit.edu 37 12 52822519 52822519 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:52822519C>G ENST00000252245.5 - 6 1264 c.1044G>C c.(1042-1044)gaG>gaC p.E348D NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 348 Coil 2.|Rod. keratin filament structural molecule activity p.E348D(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) TGACCTGCAGCTCCTCGTACT 0.557000 5 133 0 0 0.001168 0 0 UBBP4 23666 broad.mit.edu 37 17 21731297 21731297 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:21731297G>A ENST00000584755.1 + 2 996 c.599G>A c.(598-600)aGc>aAc p.S200N UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.S200N(1) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 TTGCAGGCAAGCAGCTGGAAG 0.527000 29 79 0 0 0.009535 0 0 DMD 1756 broad.mit.edu 37 X 32305789 32305789 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:32305789T>A ENST00000357033.4 - 43 6353 c.6147A>T c.(6145-6147)tcA>tcT p.S2049S DMD_ENST00000378677.2_Silent_p.S2045S NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2049 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.S708S(1)|p.S2049S(1)|p.S2044S(1)|p.S2045S(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CAATCCGACCTGAGCTTTGTT 0.338000 5 26 0 0 0.000602 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457827 45457827 + RNA SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:45457827T>A ENST00000548424.1 + 0 448 ATAAAGGCTTTGTTTAGGCGA 0.458000 10 187 0 0 0.008291 0 0 ZNF326 284695 broad.mit.edu 37 1 90484244 90484244 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:90484244G>T ENST00000340281.4 + 9 1218 c.1074_splice c.e9-1 p.E359_splice ZNF326_ENST00000370447.2_Splice_Site_p.E270_splice|ZNF326_ENST00000455342.2_Splice_Site_p.E153_splice NM_182976.2 NP_892021.1 Q5BKZ1 ZN326_HUMAN zinc finger protein 326 359 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix DNA binding p.E359*(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1) 25 all_lung(203;0.0116)|Lung NSC(277;0.0417) all cancers(265;0.00728)|Epithelial(280;0.0265) TGTTTTCTAGGAGTGTATGGT 0.303000 5 30 0.000602214 0.000676794 0.000602 1 0 SNTG1 54212 broad.mit.edu 37 8 51621445 51621445 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:51621445G>T ENST00000522124.1 + 17 1852 c.e17-1 SNTG1_ENST00000517473.1_Splice_Site|SNTG1_ENST00000276467.5_Splice_Site|SNTG1_ENST00000518864.1_Splice_Site NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding p.?(4) NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GTTCTACCTAGTGCAAGACCT 0.343000 39 87 3.33393e-15 5.09803e-15 0.004878 1 0 GRIP1 23426 broad.mit.edu 37 12 66814542 66814542 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:66814542G>T ENST00000359742.4 - 15 2036 c.1796C>A c.(1795-1797)cCc>cAc p.P599H GRIP1_ENST00000398016.3_Missense_Mutation_p.P547H|GRIP1_ENST00000286445.7_Missense_Mutation_p.P599H Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 599 PDZ 5. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity p.P547H(1) NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) AATGACGAGGGGGTCTCCTGG 0.378000 70 157 9.42754e-34 1.62596e-33 0.003610 1 0 SEC14L1 6397 broad.mit.edu 37 17 75196633 75196633 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:75196633A>G ENST00000413679.2 + 9 1190 c.887A>G c.(886-888)gAg>gGg p.E296G SEC14L1_ENST00000443798.4_Missense_Mutation_p.E296G|SEC14L1_ENST00000431431.2_Missense_Mutation_p.E262G|SEC14L1_ENST00000591437.1_Missense_Mutation_p.E262G|SEC14L1_ENST00000436233.4_Missense_Mutation_p.E296G|SEC14L1_ENST00000392476.2_Missense_Mutation_p.E296G|SEC14L1_ENST00000430767.4_Missense_Mutation_p.E296G|SEC14L1_ENST00000585618.1_Missense_Mutation_p.E296G NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 296 transport Golgi apparatus|integral to membrane binding p.E296G(1) NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 AAAGCCAGAGAGATCATGTGT 0.433000 12 292 0 0 0.002450 0 0 ZP4 57829 broad.mit.edu 37 1 238053192 238053192 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:238053192C>A ENST00000366570.4 - 3 533 c.375G>T c.(373-375)ctG>ctT p.L125L RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 125 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity p.L125L(1) breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GACACTTGAGCAGCTTCCTCT 0.562000 14 511 1.5739e-10 2.2213e-10 0.004007 1 0 IRS1 3667 broad.mit.edu 37 2 227660130 227660130 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:227660130T>A ENST00000305123.4 - 1 4345 c.3325A>T c.(3325-3327)Agt>Tgt p.S1109C NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 1109 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity p.S1109C(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CGGGTGGCACTGGGTGTTGAG 0.632000 20 85 0 0 0.008871 0 0 ADH1B 125 broad.mit.edu 37 4 100237263 100237263 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:100237263G>T ENST00000305046.8 - 5 426 c.359C>A c.(358-360)cCt>cAt p.P120H ADH1B_ENST00000394887.3_Missense_Mutation_p.P80H P00325 ADH1B_HUMAN alcohol dehydrogenase 1B (class I), beta polypeptide 120 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.P120H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GGTCCCCCGAGGATTGCCTAG 0.547000 27 37 7.41945e-09 9.85539e-09 0.005443 1 0 CRY1 1407 broad.mit.edu 37 12 107393382 107393382 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:107393382C>A ENST00000008527.5 - 7 1951 c.1084G>T c.(1084-1086)Gct>Tct p.A362S NM_004075.3 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 362 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding p.A362S(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 AGGAAGCAAGCAACTGCATGC 0.483000 23 85 6.12954e-19 9.64632e-19 0.004656 1 0 NRXN1 9378 broad.mit.edu 37 2 50765619 50765619 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:50765619C>T ENST00000404971.1 - 11 3374 c.2035G>A c.(2035-2037)Ggc>Agc p.G679S NRXN1_ENST00000402717.3_Missense_Mutation_p.G631S|NRXN1_ENST00000401669.2_Missense_Mutation_p.G639S|NRXN1_ENST00000405472.3_Missense_Mutation_p.G631S|NRXN1_ENST00000406316.2_Missense_Mutation_p.G639S|NRXN1_ENST00000406859.3_Missense_Mutation_p.G639S|NRXN1_ENST00000331040.5_5'UTR NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 639 EGF-like 2. 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.G680S(1)|p.G679S(1)|p.G639S(1) 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) CCCACGTAGCCATAGTTGAGC 0.522000 51 177 0 0 0.003610 0 0 OR11G2 390439 broad.mit.edu 37 14 20665955 20665955 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20665955C>A ENST00000357366.3 + 1 461 c.461C>A c.(460-462)gCa>gAa p.A154E NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A154E(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TTTTTCCTGGCAGTTATGGCA 0.478000 16 50 1.15088e-07 1.45698e-07 0.004007 1 0 CEACAM20 125931 broad.mit.edu 37 19 45029229 45029229 + RNA SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:45029229A>T ENST00000454753.1 - 0 379 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane p.L34H(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) GTTGGCATTGAGGGTGAGCTG 0.577000 15 135 0 0 0.002450 0 0 ZNF85 7639 broad.mit.edu 37 19 21116875 21116875 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:21116875G>T ENST00000328178.8 + 2 162 c.49G>T c.(49-51)Gag>Tag p.E17* ZNF85_ENST00000345030.6_Nonsense_Mutation_p.E17*|ZNF85_ENST00000300540.3_Nonsense_Mutation_p.E17*|ZNF85_ENST00000597314.1_Nonsense_Mutation_p.E17*|ZNF85_ENST00000596476.1_5'UTR NM_001256173.1|NM_003429.4 NP_001243102.1|NP_003420.2 Q03923 ZNF85_HUMAN zinc finger protein 85 17 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.E17*(1) breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 CTCTCTGAAGGAGTGGCAATG 0.438000 25 128 1.17739e-12 1.73482e-12 0.005443 1 0 PGM5 5239 broad.mit.edu 37 9 71006565 71006565 + Silent SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:71006565G>C ENST00000396396.1 + 5 1042 c.813G>C c.(811-813)ctG>ctC p.L271L PGM5_ENST00000396392.1_Silent_p.L271L|PGM5_ENST00000604870.2_3'UTR NM_021965.3 NP_068800.2 Q15124 PGM5_HUMAN phosphoglucomutase 5 271 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity p.L271L(1) endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 34 ACCCAAACCTGACATATGCAA 0.493000 15 74 0 0 0.007413 0 0 C1orf173 127254 broad.mit.edu 37 1 75037858 75037858 + Missense_Mutation SNP C C A rs76571187 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:75037858C>A ENST00000326665.5 - 14 3754 c.3536G>T c.(3535-3537)gGg>gTg p.G1179V C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1179 Glu-rich. p.G1179V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CAGTCTTTCCCCTCCTCCTTC 0.493000 36 241 1.47244e-24 2.48219e-24 0.006230 1 0 ARMC3 219681 broad.mit.edu 37 10 23235133 23235133 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:23235133C>G ENST00000298032.5 + 3 193 c.109C>G c.(109-111)Cca>Gca p.P37A ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.P37A|ARMC3_ENST00000409983.3_Missense_Mutation_p.P37A NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 37 binding p.P37E(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCTTAATTCTCCAGAAGAGGA 0.318000 39 89 0 0 0.008740 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48558262 48558262 + Silent SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:48558262G>C ENST00000354276.3 - 15 1629 c.1302C>G c.(1300-1302)ccC>ccG p.P434P PLA2G4C_ENST00000599921.1_Silent_p.P434P|PLA2G4C_ENST00000599111.1_Silent_p.P444P|PLA2G4C_ENST00000413144.2_Silent_p.P434P|PLA2G4C_ENST00000596510.1_5'UTR NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 434 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding p.P434P(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) CTTGGGGAAAGGGGATCTTGT 0.547000 49 63 0 0 0.003610 0 0 RYR2 6262 broad.mit.edu 37 1 237942011 237942011 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:237942011T>A ENST00000366574.2 + 88 12138 c.11821T>A c.(11821-11823)Tgg>Agg p.W3941R RYR2_ENST00000542537.1_Missense_Mutation_p.W3925R|RYR2_ENST00000360064.6_Missense_Mutation_p.W3947R NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3941 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.W3939R(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGCAGGCTGTGGGATGCTGT 0.448000 10 95 0 0 0.000978 0 0 TBATA 219793 broad.mit.edu 37 10 72539460 72539460 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:72539460G>A ENST00000299290.1 - 5 705 c.316C>T c.(316-318)Cca>Tca p.P106S TBATA_ENST00000545575.1_Missense_Mutation_p.P96S|TBATA_ENST00000456372.2_Missense_Mutation_p.P106S NM_152710.2 NP_689923.2 thymus, brain and testes associated p.P106S(1) AAGGGGGCTGGAAAATCCCTG 0.562000 7 80 0 0 0.004482 0 0 SEPT10 151011 broad.mit.edu 37 2 110310790 110310790 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:110310790T>C ENST00000356688.4 - 9 1350 c.1035A>G c.(1033-1035)caA>caG p.Q345Q SEPT10_ENST00000397714.2_Silent_p.Q322Q|SEPT10_ENST00000545389.1_Silent_p.Q178Q|SEPT10_ENST00000437928.1_Silent_p.Q330Q|SEPT10_ENST00000334001.6_Silent_p.Q212Q|SEPT10_ENST00000397712.2_Silent_p.Q345Q|SEPT10_ENST00000468616.1_Intron|SEPT10_ENST00000415095.1_Silent_p.Q345Q Q9P0V9 SEP10_HUMAN septin 10 345 cell cycle|cell division septin complex GTP binding p.Q322Q(1)|p.Q345Q(1) breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1) 18 CATAGGTCTCTTGAACACTAA 0.443000 23 129 0 0 0.002299 0 0 HDAC2 3066 broad.mit.edu 37 6 114281153 114281153 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:114281153C>G ENST00000519065.1 - 2 458 c.82G>C c.(82-84)Ggt>Cgt p.G28R HDAC2_ENST00000398283.2_Missense_Mutation_p.G122R|HDAC2_ENST00000368632.2_5'UTR|HDAC2_ENST00000519108.1_5'UTR Q92769 HDAC2_HUMAN histone deacetylase 2 28 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding p.G28R(1)|p.G122R(1) biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) ATGGGATGACCCTGTCCATAA 0.323000 4 100 0 0 0.001168 0 0 SRXN1 140809 broad.mit.edu 37 20 629553 629553 + Nonsense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:629553T>A ENST00000488788.2 - 3 430 c.232A>T c.(232-234)Aga>Tga p.R78* SRXN1_ENST00000381962.3_Silent_p.P73P p.P73P(1) GCACGCTGTCTGGGTCCTCCT 0.562000 4 48 0 0 0.009096 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810715 65810715 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:65810715G>T ENST00000312006.4 - 3 840 c.559C>A c.(559-561)Ccc>Acc p.P187T GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P187T NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 187 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity p.P187T(1) kidney(1)|lung(9)|ovary(2)|skin(2) 14 TATGCCTCGGGCGCGCGCAGG 0.677000 26 40 1.17739e-12 1.73482e-12 0.005443 1 0 C1orf173 127254 broad.mit.edu 37 1 75107077 75107077 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:75107077G>T ENST00000326665.5 - 5 600 c.382C>A c.(382-384)Cca>Aca p.P128T NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 128 p.P128T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTACTCTTTGGGCCAACTGGT 0.443000 19 95 4.35082e-09 5.83514e-09 0.010504 1 0 GRB2 2885 broad.mit.edu 37 17 73317748 73317748 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:73317748C>A ENST00000392562.1 - 5 1242 c.460G>T c.(460-462)Gtg>Ttg p.V154L GRB2_ENST00000316804.5_Missense_Mutation_p.V154L|GRB2_ENST00000392563.1_Missense_Mutation_p.V113L|GRB2_ENST00000578961.1_Intron|GRB2_ENST00000392564.1_Missense_Mutation_p.V154L|GRB2_ENST00000316615.5_Missense_Mutation_p.V113L|GRB2_ENST00000462266.1_5'UTR P62993 GRB2_HUMAN growth factor receptor-bound protein 2 154 axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity p.V154L(1) breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 17 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) ACCTGTGGCACCTGTTCTATG 0.478000 13 96 1.3612e-06 1.68588e-06 0.003163 1 0 KIAA1551 55196 broad.mit.edu 37 12 32137134 32137134 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:32137134A>G ENST00000312561.4 + 4 3659 c.3245A>G c.(3244-3246)tAc>tGc p.Y1082C KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 p.Y1082C(1) CAAACTACATACCAGACCTCA 0.403000 5 216 0 0 0.001168 0 0 LONP2 83752 broad.mit.edu 37 16 48304127 48304127 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:48304127G>T ENST00000285737.4 + 7 1276 c.1183G>T c.(1183-1185)Gag>Tag p.E395* LONP2_ENST00000535754.1_Nonsense_Mutation_p.E351* NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 395 misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity p.E395*(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TCTAGGTCGAGAGTTCCACAG 0.463000 29 151 7.01153e-11 9.96808e-11 0.007291 1 0 TRIM52 84851 broad.mit.edu 37 5 180687616 180687616 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:180687616C>T ENST00000327767.4 - 1 503 c.199G>A c.(199-201)Gag>Aag p.E67K CTC-338M12.4_ENST00000511331.1_RNA|TRIM52_ENST00000514805.1_5'UTR NM_032765.2 NP_116154.1 Q96A61 TRI52_HUMAN tripartite motif containing 52 67 Glu-rich. intracellular zinc ion binding p.E67K(1) endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654) all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.232) tcctcgtcctcctcctcctcc 0.582000 4 104 0 0 0.009096 0 0 CHRND 1144 broad.mit.edu 37 2 233399022 233399022 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:233399022C>A ENST00000258385.3 + 11 1373 c.1341C>A c.(1339-1341)aaC>aaA p.N447K CHRND_ENST00000457943.2_Missense_Mutation_p.N253K|CHRND_ENST00000543200.1_Missense_Mutation_p.N432K NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 447 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity p.N447K(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TCATTGTTAACCACATGAGGG 0.502000 21 55 1.10923e-09 1.51699e-09 0.002780 1 0 GOLIM4 27333 broad.mit.edu 37 3 167728076 167728076 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:167728076T>A ENST00000470487.1 - 16 2761 c.2072A>T c.(2071-2073)cAt>cTt p.H691L GOLIM4_ENST00000309027.4_Missense_Mutation_p.H663L NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 691 transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus p.H691L(1) breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 AGCTCTTCGATGTGATTTCTC 0.493000 54 130 0 0 0.003610 0 0 KIAA1109 84162 broad.mit.edu 37 4 123155942 123155942 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:123155942G>T ENST00000264501.4 + 27 3711 c.3338G>T c.(3337-3339)tGg>tTg p.W1113L KIAA1109_ENST00000388738.3_Missense_Mutation_p.W1113L|KIAA1109_ENST00000455637.1_Missense_Mutation_p.W1113L|KIAA1109_ENST00000495260.1_3'UTR Q2LD37 K1109_HUMAN KIAA1109 1113 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus p.W1113L(1) breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TGGTTTTTATGGCCAGATGAT 0.343000 19 107 1.64113e-05 1.94572e-05 0.010504 1 0 SIPA1L2 57568 broad.mit.edu 37 1 232607141 232607141 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:232607141G>T ENST00000366630.1 - 7 2577 c.2219C>A c.(2218-2220)cCa>cAa p.P740Q SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P740Q Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 740 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.P740Q(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) TTCGGTACATGGATTATGCAC 0.433000 46 283 9.22156e-22 1.50997e-21 0.003610 1 0 GRID2 2895 broad.mit.edu 37 4 94343933 94343933 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:94343933T>C ENST00000282020.4 + 10 1617 c.1359T>C c.(1357-1359)ttT>ttC p.F453F GRID2_ENST00000510992.1_Silent_p.F358F NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 453 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.F453F(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AAGAACCTTTTGTGATGGTCT 0.358000 22 42 0 0 0.002780 0 0 NIPBL 25836 broad.mit.edu 37 5 36985213 36985213 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:36985213T>C ENST00000282516.8 + 10 2430 c.1931T>C c.(1930-1932)gTt>gCt p.V644A NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.V644A NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 644 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding p.V644A(2) autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GAAACTAAAGTTGAGACCCAA 0.338000 17 89 0 0 0.004007 0 0 ZNF804B 219578 broad.mit.edu 37 7 88962744 88962744 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:88962744A>T ENST00000333190.4 + 4 1057 c.448A>T c.(448-450)Att>Ttt p.I150F NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 150 intracellular zinc ion binding p.I150F(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CCAGCAAGGAATTTTCCCCAT 0.393000 HNSCC(36;0.09) 18 52 0 0 0.007413 0 0 EPHA4 2043 broad.mit.edu 37 2 222291250 222291250 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:222291250C>A ENST00000281821.2 - 16 2821 c.2780G>T c.(2779-2781)cGg>cTg p.R927L EPHA4_ENST00000409938.1_Missense_Mutation_p.R927L|EPHA4_ENST00000392071.4_Missense_Mutation_p.R876L|EPHA4_ENST00000409854.1_Missense_Mutation_p.R927L NM_004438.3 NP_004429.1 P54764 EPHA4_HUMAN EPH receptor A4 927 SAM. integral to plasma membrane ATP binding|ephrin receptor activity p.R927L(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) ATCCTTATACCGGTCCATTTT 0.478000 6 75 8.12818e-05 9.41822e-05 0.001984 1 0 ZFP57 346171 broad.mit.edu 37 6 29643264 29643264 + Splice_Site SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:29643264G>A ENST00000376883.1 - 5 602 c.190_splice c.e5-1 p.A64_splice ZFP57_ENST00000376881.3_Splice_Site_p.A64_splice|ZFP57_ENST00000488757.1_Splice_Site_p.A84_splice Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 56 KRAB. DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding p.A64V(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 AAAGATTCTGGCTGATGTGTG 0.478000 19 187 0 0 0.006122 0 0 CASR 846 broad.mit.edu 37 3 121980969 121980969 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:121980969G>T ENST00000498619.1 + 4 1525 c.1087G>T c.(1087-1089)Ggt>Tgt p.G363C CASR_ENST00000296154.5_Missense_Mutation_p.G363C|CASR_ENST00000490131.1_Missense_Mutation_p.G363C NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 363 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.G363C(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCTCCAAGAAGGTGCAAAAGG 0.502000 33 49 2.48696e-23 4.15634e-23 0.003271 1 0 EIF2B2 8892 broad.mit.edu 37 14 75469819 75469819 + Silent SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:75469819G>C ENST00000266126.5 + 1 206 c.126G>C c.(124-126)ctG>ctC p.L42L NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 42 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity p.L42L(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) TAGGGTTGCTGCGCCAGATCA 0.672000 4 37 0 0 0.000602 0 0 BRINP3 339479 broad.mit.edu 37 1 190233997 190233997 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:190233997T>C ENST00000367462.3 - 4 847 c.616A>G c.(616-618)Aag>Gag p.K206E FAM5C_ENST00000534846.1_Missense_Mutation_p.K104E|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 206 extracellular region p.K206E(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) ATTCTTACCTTTATGGCAGTG 0.388000 40 82 0 0 0.003610 0 0 SLC27A5 10998 broad.mit.edu 37 19 59021298 59021298 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:59021298T>C ENST00000263093.2 - 3 1082 c.973A>G c.(973-975)Aca>Gca p.T325A SLC27A5_ENST00000601355.1_Missense_Mutation_p.T241A NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 325 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity p.T325A(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) TCATCAGCTGTGGCCCCAGAT 0.567000 31 37 0 0 0.002836 0 0 LRRC8A 56262 broad.mit.edu 37 9 131669876 131669876 + Nonsense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:131669876A>T ENST00000259324.5 + 3 956 c.433A>T c.(433-435)Aaa>Taa p.K145* LRRC8A_ENST00000372600.4_Nonsense_Mutation_p.K145*|LRRC8A_ENST00000372599.3_Nonsense_Mutation_p.K145* NM_001127244.1 NP_001120716.1 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member A 145 pre-B cell differentiation integral to membrane p.K145*(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3) 28 CTTCTGGTTCAAATTCCCGCG 0.567000 31 41 0 0 0.003755 0 0 JPH2 57158 broad.mit.edu 37 20 42747215 42747215 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:42747215C>T ENST00000372980.3 - 3 2090 c.1218G>A c.(1216-1218)ctG>ctA p.L406L NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 406 Ala-rich. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane p.L406L(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGTTGGCAGCCAGGGCGGCCT 0.612000 20 182 0 0 0.002780 0 0 GPR158 57512 broad.mit.edu 37 10 25887875 25887875 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:25887875C>A ENST00000376351.3 + 11 3679 c.3320C>A c.(3319-3321)cCt>cAt p.P1107H GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1107 integral to membrane|plasma membrane G-protein coupled receptor activity p.P1107H(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GGAGGTCAGCCTCGTGCAGCC 0.502000 22 147 7.41877e-09 9.85539e-09 0.001882 1 0 ELK4 2005 broad.mit.edu 37 1 205589269 205589269 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:205589269T>A ENST00000357992.4 - 3 1244 c.905A>T c.(904-906)gAc>gTc p.D302V ELK4_ENST00000289703.4_Missense_Mutation_p.D302V NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) p.D302V(2) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TGAATCCTGGTCTTTAGGCTC 0.458000 T SLC45A3 prostate 12 224 0 0 0.000978 0 0 PSEN2 5664 broad.mit.edu 37 1 227073239 227073239 + Splice_Site SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:227073239C>T ENST00000366782.1 + 6 956 c.455_splice c.e6-1 p.L152_splice PSEN2_ENST00000366783.3_Splice_Site_p.L119_splice|PSEN2_ENST00000472139.2_5'UTR|PSEN2_ENST00000340188.4_Splice_Site_p.L119_splice|PSEN2_ENST00000422240.2_Splice_Site_p.L119_splice|PSEN2_ENST00000391872.2_Splice_Site_p.L152_splice P49810 PSN2_HUMAN presenilin 2 (Alzheimer disease 4) 119 amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding p.L119L(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) TCTCCCTCAGCATCTACACGC 0.597000 17 19 0 0 0.004990 0 0 CSF2RB 1439 broad.mit.edu 37 22 37326508 37326508 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:37326508C>A ENST00000262825.5 + 7 1027 c.810C>A c.(808-810)agC>agA p.S270R CSF2RB_ENST00000406230.1_Missense_Mutation_p.S270R|CSF2RB_ENST00000403662.3_Missense_Mutation_p.S270R|CSF2RB_ENST00000536485.1_Missense_Mutation_p.S211R NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 270 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity p.S270R(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) AGGTGGCCAGCTCGGTCTCCT 0.617000 6 160 0.00198382 0.00215952 0.001984 1 0 ABCC4 10257 broad.mit.edu 37 13 95829973 95829973 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:95829973T>A ENST00000376887.4 - 13 1829 c.1715A>T c.(1714-1716)cAc>cTc p.H572L ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.H572L|ABCC4_ENST00000536256.1_Missense_Mutation_p.H497L|ABCC4_ENST00000412704.1_Missense_Mutation_p.H572L NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 572 ABC transporter 1. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity p.H572L(2) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTCGAACAAGTGTCTGCTAAC 0.443000 13 37 0 0 0.001855 0 0 SLC27A3 11000 broad.mit.edu 37 1 153749049 153749049 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:153749049C>G ENST00000271857.2 + 2 1867 c.1107C>G c.(1105-1107)caC>caG p.H369Q SLC27A3_ENST00000368661.3_Missense_Mutation_p.H288Q|SLC27A3_ENST00000484014.1_3'UTR Q5K4L6 S27A3_HUMAN solute carrier family 27 (fatty acid transporter), member 3 288 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding p.H288Q(1) NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TGGGGCTCCACCTGTGGGCTG 0.622000 9 233 0 0 0.004482 0 0 SLC35F1 222553 broad.mit.edu 37 6 118475609 118475609 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:118475609G>T ENST00000360388.4 + 2 376 c.173_splice c.e2-1 p.E59_splice NM_001029858.3 NP_001025029.2 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 59 transport integral to membrane p.E59*(1) breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) ATTTCTCAGGGAGATGTTAAT 0.423000 17 183 5.3912e-06 6.52726e-06 0.006122 1 0 KIAA2022 340533 broad.mit.edu 37 X 73960665 73960665 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:73960665G>A ENST00000373468.1 - 3 4378 c.3727C>T c.(3727-3729)Cgt>Tgt p.R1243C KIAA2022_ENST00000055682.5_Missense_Mutation_p.R1243C Q5QGS0 K2022_HUMAN KIAA2022 1243 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity p.R1243C(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CTTCCCCCACGGCCAATGCCA 0.493000 21 15 0 0 0.003954 0 0 EPS15L1 58513 broad.mit.edu 37 19 16503150 16503150 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:16503150C>A ENST00000455140.2 - 19 2134 c.2068G>T c.(2068-2070)Gat>Tat p.D690Y EPS15L1_ENST00000248070.6_Missense_Mutation_p.D690Y|EPS15L1_ENST00000535753.2_Missense_Mutation_p.D690Y|EPS15L1_ENST00000594975.1_Missense_Mutation_p.D692Y NM_001258374.1 NP_001245303.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 690 15 X 3 AA repeats of D-P-F. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding p.D690Y(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GTGAATGGATCCGAGGTAAAT 0.532000 18 55 9.16793e-09 1.21281e-08 0.004990 1 0 SLC5A11 115584 broad.mit.edu 37 16 24909338 24909338 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:24909338C>A ENST00000449109.2 + 9 800 c.516C>A c.(514-516)tgC>tgA p.C172* SLC5A11_ENST00000539472.1_Missense_Mutation_p.A241D|SLC5A11_ENST00000565769.1_Missense_Mutation_p.A241D|SLC5A11_ENST00000424767.2_Missense_Mutation_p.A270D|SLC5A11_ENST00000567758.1_Missense_Mutation_p.A270D|SLC5A11_ENST00000569071.1_Nonsense_Mutation_p.C172*|SLC5A11_ENST00000545376.1_Missense_Mutation_p.A235D|SLC5A11_ENST00000347898.3_Missense_Mutation_p.A305D|SLC5A11_ENST00000568579.1_Missense_Mutation_p.A235D NM_001258414.1 NP_001245343.1 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 346 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity p.A305D(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) CTGTCCCATGCCAAAGGAGGT 0.537000 12 285 0.00185496 0.00204445 0.001855 1 0 ZFHX4 79776 broad.mit.edu 37 8 77768330 77768330 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:77768330T>A ENST00000521891.2 + 10 9621 c.9173T>A c.(9172-9174)cTg>cAg p.L3058Q ZFHX4_ENST00000455469.2_Missense_Mutation_p.L3013Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L3032Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L3013Q NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3013 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L3042Q(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GTTCGGCAGCTGATGGCACAG 0.522000 HNSCC(33;0.089) 5 140 0 0 0.001168 0 0 MOK 5891 broad.mit.edu 37 14 102718263 102718263 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:102718263T>A ENST00000361847.2 - 5 584 c.353A>T c.(352-354)cAt>cTt p.H118L MOK_ENST00000193029.6_5'UTR|MOK_ENST00000522874.1_Missense_Mutation_p.H118L|MOK_ENST00000524214.1_Missense_Mutation_p.H88L NM_014226.1 NP_055041.1 Q9UQ07 MOK_HUMAN MOK protein kinase 118 Protein kinase. signal transduction Golgi apparatus ATP binding|cyclin-dependent protein kinase activity|protein binding p.H118L(1) CCTGTGAATATGATCCAGGGA 0.323000 20 59 0 0 0.002780 0 0 ZNF577 84765 broad.mit.edu 37 19 52376333 52376333 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:52376333C>A ENST00000420592.1 - 6 2066 c.733G>T c.(733-735)Gga>Tga p.G245* ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Nonsense_Mutation_p.G304*|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Nonsense_Mutation_p.G245* Q9BSK1 ZN577_HUMAN zinc finger protein 577 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G297*(1) breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) AAGGTTCTTCCACAATCACTG 0.438000 33 165 1.36161e-19 2.16034e-19 0.004289 1 0 ALK 238 broad.mit.edu 37 2 29917880 29917880 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:29917880C>A ENST00000389048.3 - 3 1694 c.787_splice c.e3-1 p.G263_splice ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 263 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.?(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCACTCCAGACCTGCAATAAT 0.557000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 23 84 3.65163e-15 5.57505e-15 0.006320 1 0 BNC2 54796 broad.mit.edu 37 9 16435569 16435569 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:16435569G>A ENST00000380672.4 - 6 2680 c.2623C>T c.(2623-2625)Cgc>Tgc p.R875C BNC2_ENST00000380666.2_Missense_Mutation_p.R875C|BNC2_ENST00000380667.2_Missense_Mutation_p.R808C|BNC2_ENST00000545497.1_Missense_Mutation_p.R780C NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 875 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding p.R875C(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) CGGCTTCGGCGAGAGGGGAAT 0.498000 4 32 0 0 0.009096 0 0 PPFIBP1 8496 broad.mit.edu 37 12 27835424 27835424 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:27835424G>T ENST00000318304.8 + 22 2452 c.2169G>T c.(2167-2169)tgG>tgT p.W723C PPFIBP1_ENST00000228425.6_Missense_Mutation_p.W717C|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.W692C|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.W570C NM_001198916.1|NM_177444.2 NP_001185845.1|NP_803193.2 Q86W92 LIPB1_HUMAN PTPRF interacting protein, binding protein 1 (liprin beta 1) 723 SAM 2. cell adhesion plasma membrane protein binding p.W717C(1)|p.W723C(1) PPFIBP1/ALK(3) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1) 32 Lung SC(9;0.0873) ATTTCAACTGGGTCACTAGTA 0.363000 49 120 1.86633e-21 3.04062e-21 0.003610 1 0 CACNG7 59284 broad.mit.edu 37 19 54444824 54444824 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:54444824C>T ENST00000391767.1 + 5 737 c.525C>T c.(523-525)taC>taT p.Y175Y CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Silent_p.Y175Y|CACNG7_ENST00000222212.2_Silent_p.Y175Y P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 175 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity p.Y175Y(1) NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) ATTATCGCTACGGGTGGTCTT 0.537000 27 165 0 0 0.006320 0 0 COL4A3 1285 broad.mit.edu 37 2 228157957 228157957 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:228157957A>T ENST00000396578.3 + 38 3423 c.3261A>T c.(3259-3261)caA>caT p.Q1087H AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1087 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity p.Q1087H(2) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) AAATGGGGCAACCTGGCCCAC 0.502000 4 53 0 0 0.009096 0 0 PGPEP1L 145814 broad.mit.edu 37 15 99512842 99512842 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:99512842C>A ENST00000535714.1 - 4 826 c.21G>T c.(19-21)gcG>gcT p.A7A PGPEP1L_ENST00000378919.6_Silent_p.A61A|RP11-654A16.3_ENST00000559468.1_RNA NM_001167902.1 NP_001161374.1 A6NFU8 PGPIL_HUMAN pyroglutamyl-peptidase I-like 61 proteolysis cysteine-type peptidase activity p.A61V(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1) 14 CCAGAATGATCGCCTTGGCGG 0.622000 18 101 3.62473e-10 5.04243e-10 0.001882 1 0 SCFD2 152579 broad.mit.edu 37 4 54231430 54231430 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:54231430A>C ENST00000401642.3 - 1 812 c.679T>G c.(679-681)Tgt>Ggt p.C227G SCFD2_ENST00000388940.4_Missense_Mutation_p.C227G NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 227 protein transport|vesicle docking involved in exocytosis p.C227G(1) breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) AAATGTTCACACAGAGAACTG 0.527000 12 113 0 0 0.001855 0 0 DCDC2 51473 broad.mit.edu 37 6 24357729 24357729 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:24357729C>A ENST00000378454.3 - 1 551 c.250G>T c.(250-252)Ggc>Tgc p.G84C KAAG1_ENST00000274766.1_5'UTR NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 84 Doublecortin 1. cellular defense response|intracellular signal transduction|neuron migration p.G84C(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) ACGTAATTGCCCCCGCTCTGG 0.612000 13 61 1.05317e-09 1.44439e-09 0.002450 1 0 DAB2IP 153090 broad.mit.edu 37 9 124544669 124544669 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:124544669G>A ENST00000408936.3 + 16 3644 c.3462G>A c.(3460-3462)caG>caA p.Q1154Q DAB2IP_ENST00000259371.2_Silent_p.Q1126Q|DAB2IP_ENST00000309989.1_Silent_p.Q1030Q Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 1154 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity p.Q1030Q(1)|p.Q1126Q(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 CCCTGACCCAGCTGAAAGAGA 0.582000 4 126 0 0 0.009096 0 0 AMY1C 278 broad.mit.edu 37 1 104297220 104297220 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:104297220T>C ENST00000370079.3 + 6 1042 c.978T>C c.(976-978)tcT>tcC p.S326S NM_001008219.1 NP_001008220.1 P04745 AMY1_HUMAN amylase, alpha 1C (salivary) 326 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding|protein binding p.S326S(1) lung(5)|skin(3) 8 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) GAGGAGCCTCTATACTTACCT 0.413000 19 429 0 0 0.006230 0 0 SUGP1 57794 broad.mit.edu 37 19 19389590 19389590 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:19389590A>G ENST00000247001.5 - 11 1891 c.1544T>C c.(1543-1545)cTg>cCg p.L515P NM_172231.3 NP_757386.2 Q8IWZ8 SUGP1_HUMAN SURP and G patch domain containing 1 515 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding p.L515P(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 22 CATCTTTGTCAGCTGCTCGGC 0.582000 11 15 0 0 0.008291 0 0 KCNT2 343450 broad.mit.edu 37 1 196309513 196309513 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:196309513C>A ENST00000367433.5 - 16 1842 c.1741G>T c.(1741-1743)Gga>Tga p.G581* KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.G192*|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.G581*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.G531* Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 581 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity p.G581*(1) NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CTGGAAGGTCCATGATAAAAC 0.294000 4 151 0.000602214 0.000676794 0.000602 1 0 CSMD1 64478 broad.mit.edu 37 8 3265427 3265427 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:3265427A>C ENST00000520002.1 - 15 2623 c.2068T>G c.(2068-2070)Tac>Gac p.Y690D CSMD1_ENST00000602723.1_Missense_Mutation_p.Y690D|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y689D|CSMD1_ENST00000539096.1_Missense_Mutation_p.Y689D|CSMD1_ENST00000602557.1_Missense_Mutation_p.Y690D|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y689D|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y690D Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 690 CUB 4. integral to membrane p.Y689D(1)|p.Y418D(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTACTGGTGTAAGTGATGTTG 0.443000 3 20 0 0 0.004672 0 0 PDE11A 50940 broad.mit.edu 37 2 178936786 178936786 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:178936786G>A ENST00000286063.5 - 1 696 c.379C>T c.(379-381)Cgc>Tgc p.R127C PDE11A_ENST00000358450.4_Intron NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 127 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.R127C(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GCCTTGGAGCGGGCAAAACTC 0.607000 Primary Pigmented Nodular Adrenocortical Disease, Familial 5 144 0 0 0.001168 0 0 GCC1 79571 broad.mit.edu 37 7 127225205 127225205 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:127225205C>T ENST00000321407.2 - 1 456 c.32G>A c.(31-33)gGc>gAc p.G11D GCC1_ENST00000497650.1_Intron NM_024523.5 NP_078799.2 Q96CN9 GCC1_HUMAN GRIP and coiled-coil domain containing 1 11 Golgi membrane|plasma membrane protein binding p.G11D(1) breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 CTTGCTCGGGCCGCCCCCGAA 0.572000 OREG0003808 type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 14 115 0 0 0.004007 0 0 SPAG16 79582 broad.mit.edu 37 2 214794784 214794784 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:214794784G>T ENST00000331683.5 + 12 1410 c.1315G>T c.(1315-1317)Gtg>Ttg p.V439L SPAG16_ENST00000374309.3_Missense_Mutation_p.V345L NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 439 cilium assembly cilium axoneme|flagellar axoneme p.V439L(2) endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CAGCCGCGCAGTGTGGTCCTG 0.438000 18 153 3.73808e-20 5.9797e-20 0.005443 1 0 CXorf21 80231 broad.mit.edu 37 X 30578175 30578175 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:30578175C>A ENST00000378962.3 - 3 620 c.298G>T c.(298-300)Gtt>Ttt p.V100F NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 100 p.V100F(1) kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 CATATTTCAACTGCAGCCAAG 0.443000 7 222 0.00198382 0.00215952 0.001984 1 0 C20orf24 55969 broad.mit.edu 37 20 35236149 35236149 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:35236149G>T ENST00000344795.3 + 2 364 c.146G>T c.(145-147)cGa>cTa p.R49L C20orf24_ENST00000373852.5_Missense_Mutation_p.R49L|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.R75L|C20orf24_ENST00000342422.3_Missense_Mutation_p.R49L NM_001199534.1|NM_018840.4 NP_001186463.1|NP_061328.1 chromosome 20 open reading frame 24 p.R49L(2) breast(1)|kidney(1)|lung(2) 4 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) TACTGGTTCCGACAGATCATT 0.423000 20 170 1.10923e-09 1.51699e-09 0.002780 1 0 EFNB1 1947 broad.mit.edu 37 X 68060320 68060320 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:68060320C>T ENST00000204961.4 + 5 1644 c.864C>T c.(862-864)ccC>ccT p.P288P NM_004429.4 NP_004420.1 P98172 EFNB1_HUMAN ephrin-B1 288 cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding p.P288P(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1) 22 TGGCCAGTCCCAAGGGGGGCA 0.607000 4 18 0 0 0.009096 0 0 CAPS2 84698 broad.mit.edu 37 12 75692486 75692486 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:75692486C>A ENST00000393284.3 - 11 987 c.386G>T c.(385-387)cGa>cTa p.R129L CAPS2_ENST00000409799.1_Missense_Mutation_p.R279L|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409445.3_Missense_Mutation_p.R361L|CAPS2_ENST00000442339.2_Intron Q9BXY5 CAYP2_HUMAN calcyphosine 2 361 calcium ion binding p.R129L(1)|p.R361L(1) endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 ATCACCAAGTCGGTATTGTTT 0.378000 25 34 4.7796e-09 6.39256e-09 0.004656 1 0 UGT2A3 79799 broad.mit.edu 37 4 69796477 69796477 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:69796477G>T ENST00000251566.4 - 5 1121 c.1091C>A c.(1090-1092)cCc>cAc p.P364H UGT2A3_ENST00000420231.2_Missense_Mutation_p.P75H NM_024743.3 NP_079019.3 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A3 364 integral to membrane glucuronosyltransferase activity p.P364H(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TTTGGTTTTGGGATGACCTAG 0.358000 9 44 1.11149e-13 1.66552e-13 0.008291 1 0 RBM15 64783 broad.mit.edu 37 1 110883749 110883749 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:110883749A>T ENST00000369784.3 + 1 2622 c.1722A>T c.(1720-1722)agA>agT p.R574S RBM15_ENST00000487146.2_Missense_Mutation_p.R574S|RBM15_ENST00000602849.1_Missense_Mutation_p.R574S NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 574 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding p.R574S(1) ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) TACTATACAGAGATCGTGATA 0.552000 T MKL1 acute megakaryocytic leukemia 13 49 0 0 0.003163 0 0 C17orf67 339210 broad.mit.edu 37 17 54892331 54892331 + Splice_Site SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:54892331C>T ENST00000397861.2 - 6 1335 c.e6-1 C17orf67_ENST00000575658.1_Splice_Site|C17orf67_ENST00000397862.2_Splice_Site Q0P5P2 CQ067_HUMAN chromosome 17 open reading frame 67 extracellular region p.?(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 7 Breast(9;2.49e-06) GGGGAGGTCTCTGGAAAAGTC 0.502000 14 514 0 0 0.001855 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129413 248129413 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248129413G>A ENST00000366480.3 + 1 879 c.780G>A c.(778-780)ctG>ctA p.L260L OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L260L(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CCTCCCACCTGATTGTGGCAA 0.493000 37 58 0 0 0.004289 0 0 F5 2153 broad.mit.edu 37 1 169484771 169484771 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:169484771C>G ENST00000367796.3 - 24 6655 c.6454G>C c.(6454-6456)Gaa>Caa p.E2152Q F5_ENST00000495481.1_5'UTR|F5_ENST00000367797.3_Missense_Mutation_p.E2147Q P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 2147 F5/8 type C 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.E2147Q(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ACATACATTTCAGAGGACAGA 0.433000 28 297 0 0 0.004656 0 0 HFM1 164045 broad.mit.edu 37 1 91740287 91740287 + Splice_Site SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:91740287C>G ENST00000370425.3 - 33 3766 c.3668_splice c.e33+1 p.R1223_splice HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Splice_Site_p.R902_splice|HFM1_ENST00000294696.5_Splice_Site_p.R455_splice NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1223 ATP binding|ATP-dependent helicase activity|nucleic acid binding p.R1223T(1) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ATATTTGTACCTTGATATACT 0.323000 4 22 0 0 0.000602 0 0 PLXNA4 91584 broad.mit.edu 37 7 132174174 132174174 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:132174174G>T ENST00000359827.3 - 3 2210 c.1248C>A c.(1246-1248)tcC>tcA p.S416S PLXNA4_ENST00000321063.4_Silent_p.S416S|PLXNA4_ENST00000423507.2_Silent_p.S416S|PLXNA4_ENST00000378539.5_Silent_p.S416S Q9HCM2 PLXA4_HUMAN plexin A4 416 Sema. integral to membrane|intracellular|plasma membrane p.S416S(4) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCACCATGTCGGACACTCCCA 0.493000 15 31 4.7546e-09 6.36789e-09 0.004007 1 0 FAM175A 84142 broad.mit.edu 37 4 84391519 84391519 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:84391519G>C ENST00000321945.7 - 5 421 c.313C>G c.(313-315)Cat>Gat p.H105D FAM175A_ENST00000506553.1_Missense_Mutation_p.H56D|FAM175A_ENST00000505489.1_5'UTR NM_139076.2 NP_620775.2 Q6UWZ7 F175A_HUMAN family with sequence similarity 175, member A 105 MPN-like. chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation BRCA1-A complex polyubiquitin binding p.H105Y(1)|p.H105D(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 13 TGATCTGAATGACGACGGAAT 0.333000 5 155 0 0 0.001168 0 0 BTBD11 121551 broad.mit.edu 37 12 108051444 108051444 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:108051444C>G ENST00000280758.5 + 17 3792 c.3264C>G c.(3262-3264)gcC>gcG p.A1088A BTBD11_ENST00000420571.2_Silent_p.A969A|BTBD11_ENST00000357167.4_Silent_p.A625A|BTBD11_ENST00000494235.2_Silent_p.A167A NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 1088 integral to membrane DNA binding p.A1088A(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 GGACGTTGGCCATCAGAATTC 0.512000 5 111 0 0 0.001168 0 0 SORBS3 10174 broad.mit.edu 37 8 22414373 22414373 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:22414373G>A ENST00000240123.7 + 4 749 c.366G>A c.(364-366)gaG>gaA p.E122E SORBS3_ENST00000523402.1_Silent_p.E122E NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 122 SoHo. muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding p.E122E(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) TCAAGTACGAGGGAATCGGGC 0.652000 6 72 0 0 0.006214 0 0 NHLH1 4807 broad.mit.edu 37 1 160340530 160340530 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:160340530C>T ENST00000302101.5 + 2 455 c.9C>T c.(7-9)ctC>ctT p.L3L NM_005598.3 NP_005589.1 Q02575 HEN1_HUMAN nescient helix loop helix 1 3 cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.L3L(1) breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1) 7 all_cancers(52;7.11e-19)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCATGATGCTCAACTCAGACA 0.662000 27 25 0 0 0.003271 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220345290 220345290 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:220345290A>T ENST00000358951.2 - 23 2634 c.2518T>A c.(2518-2520)Tct>Act p.S840T NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 840 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity p.S840T(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) ACATGCGCAGACAACAGAGCG 0.493000 50 59 0 0 0.003610 0 0 MADD 8567 broad.mit.edu 37 11 47307001 47307001 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:47307001G>T ENST00000342922.4 + 14 2768 c.e14-1 MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000311027.5_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000349238.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity p.?(1) breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GTGCATTCAAGGGCTCAAAAG 0.547000 34 249 1.36161e-19 2.16034e-19 0.004289 1 0 DBF4B 80174 broad.mit.edu 37 17 42828116 42828116 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:42828116C>A ENST00000315005.3 + 14 1481 c.1343C>A c.(1342-1344)cCa>cAa p.P448Q DBF4B_ENST00000393547.2_Intron NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 448 cell cycle nucleus nucleic acid binding|zinc ion binding p.P448Q(1) kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) TGTCCCTGCCCAGCCTCCTTT 0.622000 27 54 1.7881e-09 2.43172e-09 0.008361 1 0 OR5H14 403273 broad.mit.edu 37 3 97868308 97868308 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:97868308C>T ENST00000437310.1 + 1 139 c.79C>T c.(79-81)Ctg>Ttg p.L27L NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.(=)(1)|p.L27M(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GAAAATACCCCTGTTCCTGGC 0.418000 43 272 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179432976 179432976 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179432976G>A ENST00000589042.1 - 326 78107 c.77883C>T c.(77881-77883)taC>taT p.Y25961Y TTN_ENST00000342175.6_Silent_p.Y17088Y|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.Y16896Y|TTN_ENST00000342992.6_Silent_p.Y23393Y|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.Y24320Y|TTN_ENST00000359218.5_Silent_p.Y17021Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24320 Fibronectin type-III 89. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.Y23391Y(1)|p.Y16896Y(1)|p.Y17021Y(1)|p.Y23393Y(1)|p.Y17088Y(1) 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) TTCTAAATTGGTATTCTGTAC 0.403000 21 147 0 0 0.002299 0 0 ST3GAL3 6487 broad.mit.edu 37 1 44386499 44386499 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:44386499G>T ENST00000262915.3 + 12 1321 c.1144G>T c.(1144-1146)Ggc>Tgc p.G382C ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.G297C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.G351C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.G367C|ST3GAL3_ENST00000335430.6_3'UTR|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.G283C|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.G367C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.G351C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.G282C|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.G382C|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.G328C|ST3GAL3_ENST00000372377.4_3'UTR|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.G313C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.G282C NM_174963.3 NP_777623.2 Q11203 SIAT6_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 3 313 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane N-acetyllactosaminide alpha-2,3-sialyltransferase activity p.G382C(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1) 19 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0518) GGCACTACACGGCTGTGACGA 0.577000 4 73 3.59834e-05 4.2147e-05 0.001168 1 0 OR51B2 79345 broad.mit.edu 37 11 5345488 5345488 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:5345488C>G ENST00000328813.2 - 1 94 c.40G>C c.(40-42)Ggc>Cgc p.G14R HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G14R(1) NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGGAAAGCCAGTCAGCAAA 0.488000 OREG0003719 type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 7 52 0 0 0.003080 0 0 TEP1 7011 broad.mit.edu 37 14 20852618 20852618 + Missense_Mutation SNP C C A rs147687706 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20852618C>A ENST00000262715.5 - 23 3311 c.3271G>T c.(3271-3273)Ggg>Tgg p.G1091W TEP1_ENST00000556935.1_Missense_Mutation_p.G983W NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1091 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.G1091W(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TCCTCCAGCCCGCCAACATAG 0.592000 8 237 0.00621372 0.00663753 0.006214 1 0 FCRL5 83416 broad.mit.edu 37 1 157485511 157485511 + Missense_Mutation SNP G G T rs140845798 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:157485511G>T ENST00000361835.3 - 17 3045 c.2888C>A c.(2887-2889)cCg>cAg p.P963Q FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.P963Q NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 963 integral to membrane|plasma membrane receptor activity p.P963K(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) TCCGGAAACCGGGGTTGACGC 0.587000 41 509 4.33383e-22 7.13246e-22 0.003610 1 0 CBLB 868 broad.mit.edu 37 3 105464841 105464841 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:105464841C>A ENST00000264122.4 - 6 1086 c.765G>T c.(763-765)gtG>gtT p.V255V CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Silent_p.V255V|CBLB_ENST00000394027.3_Silent_p.V277V|CBLB_ENST00000403724.1_Silent_p.V255V NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 255 Cbl-PTB.|SH2-like. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding p.V255V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 CTGGATGTGTCACAGCTAAGA 0.333000 Mis S AML 21 164 8.10497e-08 1.03962e-07 0.010504 1 0 GPR179 440435 broad.mit.edu 37 17 36499029 36499029 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:36499029G>T ENST00000342292.4 - 1 664 c.644C>A c.(643-645)cCg>cAg p.P215Q NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 215 integral to membrane|plasma membrane G-protein coupled receptor activity p.P215Q(1) breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ATCTGCCTGCGGCCACTTGGG 0.627000 30 84 9.39024e-22 1.535e-21 0.009718 1 0 C1orf222 339457 broad.mit.edu 37 1 1919949 1919949 + Splice_Site SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:1919949A>T ENST00000434971.2 - 4 329 c.e4+1 Q69YW0 CA222_HUMAN chromosome 1 open reading frame 222 p.?(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1) 11 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCCCCAGCTCACCTCATCTTC 0.602000 24 61 0 0 0.002780 0 0 BMP3 651 broad.mit.edu 37 4 81967195 81967195 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:81967195G>T ENST00000282701.2 + 2 940 c.620G>T c.(619-621)aGg>aTg p.R207M NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 207 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity p.R207M(1) 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 CAACTCTTGAGGAAGGCCAAA 0.438000 35 304 9.17885e-22 1.50552e-21 0.003271 1 0 ZNF208 7757 broad.mit.edu 37 19 22155159 22155159 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:22155159C>A ENST00000397126.4 - 4 2825 c.2677G>T c.(2677-2679)Gaa>Taa p.E893* ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.E793*(2)|p.E893*(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTGCCACATTCTTCACATTTG 0.383000 5 75 2.0095e-06 2.46056e-06 0.001984 1 0 TTLL2 83887 broad.mit.edu 37 6 167754801 167754801 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:167754801G>A ENST00000239587.5 + 3 1501 c.1413G>A c.(1411-1413)gtG>gtA p.V471V NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 471 protein modification process ATP binding|tubulin-tyrosine ligase activity p.V471V(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ATGACTCTGTGGTGGAGAAAG 0.507000 13 99 0 0 0.004007 0 0 WASL 8976 broad.mit.edu 37 7 123346396 123346396 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:123346396T>C ENST00000223023.4 - 4 703 c.371A>G c.(370-372)gAa>gGa p.E124G NM_003941.2 NP_003932.3 O00401 WASL_HUMAN Wiskott-Aldrich syndrome-like 124 WH1. actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|cytosol|nucleolus|plasma membrane actin binding|small GTPase regulator activity p.E124G(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TGCTTCTTCTTCATTGGCAAA 0.333000 6 38 0 0 0.001984 0 0 TOR1AIP1 26092 broad.mit.edu 37 1 179887338 179887338 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:179887338A>T ENST00000435319.3 + 10 1907 c.1716A>T c.(1714-1716)caA>caT p.Q572H TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.Q588H NM_001267578.1|NM_015602.3 NP_001254507.1|NP_056417.2 Q5JTV8 TOIP1_HUMAN torsin A interacting protein 1 572 integral to membrane|nuclear inner membrane p.Q572H(1) breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 18 TGCCTGTGCAACCTGAAAATG 0.433000 14 126 0 0 0.007413 0 0 PCDH15 65217 broad.mit.edu 37 10 55582700 55582700 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:55582700C>A ENST00000361849.3 - 34 5186 c.4792G>T c.(4792-4794)Gat>Tat p.D1598Y PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1593Y|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1573Y|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1527Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1556Y|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1596Y NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1596 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.D1596Y(1) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGCTGCAGATCTATGATCTCT 0.468000 HNSCC(58;0.16) 7 246 8.12818e-05 9.41822e-05 0.001984 1 0 C11orf82 220042 broad.mit.edu 37 11 82625869 82625869 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:82625869C>G ENST00000533655.1 + 3 301 c.89C>G c.(88-90)tCt>tGt p.S30C C11orf82_ENST00000528759.1_Missense_Mutation_p.S30C|C11orf82_ENST00000525361.1_Missense_Mutation_p.S30C|C11orf82_ENST00000525388.1_Missense_Mutation_p.S30C|C11orf82_ENST00000524921.1_Missense_Mutation_p.S30C|C11orf82_ENST00000329143.3_5'UTR|C11orf82_ENST00000430323.2_Missense_Mutation_p.S30C NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 30 apoptosis|cell cycle arrest cytoplasm|nucleus p.S30C(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 AAGTGCTTCTCTAGGATAATC 0.403000 26 110 0 0 0.003330 0 0 DNAH5 1767 broad.mit.edu 37 5 13824339 13824339 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:13824339C>A ENST00000265104.4 - 39 6652 c.6548G>T c.(6547-6549)cGt>cTt p.R2183L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2183 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R2183L(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCGTAGTACACGCATGACAAT 0.448000 Kartagener syndrome 21 67 5.26018e-13 7.80984e-13 0.001882 1 0 OR5L1 219437 broad.mit.edu 37 11 55579236 55579236 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55579236G>A ENST00000333973.2 + 1 383 c.294G>A c.(292-294)atG>atA p.M98I NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M98_V99>IM(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) TAGGGTGCATGGTGCAATTCT 0.453000 9 322 0 0 0.006214 0 0 MCM6 4175 broad.mit.edu 37 2 136633884 136633884 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:136633884C>T ENST00000264156.2 - 1 112 c.52G>A c.(52-54)Gtc>Atc p.V18I NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 18 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding p.V18I(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) TCGTCGCGGACCTCCAGGTGC 0.692000 4 32 0 0 0.000602 0 0 ANKEF1 63926 broad.mit.edu 37 20 10033801 10033801 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:10033801A>G ENST00000378380.3 + 8 2241 c.1912A>G c.(1912-1914)Aga>Gga p.R638G SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.R638G|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 p.R638G(1) TGCTGATTATAGAATAATTGA 0.348000 5 210 0 0 0.001168 0 0 NXPE1 120400 broad.mit.edu 37 11 114401032 114401032 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:114401032T>C ENST00000536312.1 - 6 1590 c.698A>G c.(697-699)tAt>tGt p.Y233C NXPE1_ENST00000251921.2_Missense_Mutation_p.Y91C|NXPE1_ENST00000424269.1_Missense_Mutation_p.Y233C neurexophilin and PC-esterase domain family, member 1 p.Y91C(1) GTCATCCAGATATTCACAGAG 0.423000 5 135 0 0 0.001168 0 0 ZNF649 65251 broad.mit.edu 37 19 52394116 52394116 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:52394116T>C ENST00000354957.3 - 5 1557 c.1273A>G c.(1273-1275)Acg>Gcg p.T425A CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.T397A NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T425A(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTCTCTCCCGTGTGAGTTCTG 0.428000 50 309 0 0 0.003610 0 0 ARID3C 138715 broad.mit.edu 37 9 34623453 34623453 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:34623453G>T ENST00000378909.2 - 4 926 c.834C>A c.(832-834)tgC>tgA p.C278* NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 278 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.C278*(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) TCAGCTGAGCGCATGCATGCG 0.637000 57 221 2.19297e-23 3.67767e-23 0.003610 1 0 CXorf22 170063 broad.mit.edu 37 X 35993266 35993266 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:35993266C>A ENST00000297866.5 + 14 2323 c.2257C>A c.(2257-2259)Cct>Act p.P753T NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 753 p.P753T(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TTTTTCAGGGCCTTCTGTCCT 0.289000 13 32 4.36969e-10 6.06138e-10 0.001855 1 0 TMEM107 84314 broad.mit.edu 37 17 8079332 8079332 + Nonsense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:8079332G>A ENST00000532998.1 - 2 186 c.100C>T c.(100-102)Cag>Tag p.Q34* TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000437139.2_Nonsense_Mutation_p.Q34*|TMEM107_ENST00000431792.2_Nonsense_Mutation_p.Q34*|TMEM107_ENST00000533070.1_Nonsense_Mutation_p.Q34*|TMEM107_ENST00000316425.5_Nonsense_Mutation_p.Q34* Q6UX40 TM107_HUMAN transmembrane protein 107 34 integral to membrane p.Q34*(1) large_intestine(1)|lung(4)|ovary(1) 6 AGGCAGGCCTGTATGTTGCTG 0.607000 5 93 0 0 0.000602 0 0 ALK 238 broad.mit.edu 37 2 29917881 29917881 + Splice_Site SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:29917881C>T ENST00000389048.3 - 3 1694 c.e3-1 ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.?(2) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CACTCCAGACCTGCAATAATA 0.552000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 22 85 0 0 0.006320 0 0 LTBP1 4052 broad.mit.edu 37 2 33359867 33359867 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:33359867C>A ENST00000404816.2 + 5 1394 c.1041C>A c.(1039-1041)aaC>aaA p.N347K LTBP1_ENST00000390003.4_Missense_Mutation_p.N21K|LTBP1_ENST00000354476.3_Missense_Mutation_p.N347K|LTBP1_ENST00000407925.1_Missense_Mutation_p.N21K|LTBP1_ENST00000418533.2_Missense_Mutation_p.N21K|LTBP1_ENST00000402934.1_Missense_Mutation_p.N21K|LTBP1_ENST00000404525.1_Missense_Mutation_p.N21K Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 347 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity p.N347K(1) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TAGTGAGTAACCACACTGGCC 0.473000 14 86 1.5739e-10 2.2213e-10 0.004007 1 0 LRP1B 53353 broad.mit.edu 37 2 141108580 141108580 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:141108580G>T ENST00000389484.3 - 77 12649 c.11678C>A c.(11677-11679)gCt>gAt p.A3893D NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3893 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.A3893D(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGTGTCATTAGCAATGTAGAG 0.289000 TSP Lung(27;0.18) 38 83 2.26627e-22 3.73608e-22 0.007835 1 0 AASS 10157 broad.mit.edu 37 7 121738539 121738539 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:121738539C>T ENST00000393376.1 - 14 1715 c.1620G>A c.(1618-1620)ctG>ctA p.L540L AASS_ENST00000417368.2_Silent_p.L540L|AASS_ENST00000473553.1_5'UTR Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 540 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity p.L540L(2) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) CCAAGAAGCCCAGCTTCTCTT 0.338000 6 72 0 0 0.001984 0 0 PSTPIP2 9050 broad.mit.edu 37 18 43619913 43619913 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:43619913C>A ENST00000409746.5 - 2 205 c.134_splice c.e2+1 p.R45_splice PSTPIP2_ENST00000589328.1_Splice_Site_p.R45_splice|PSTPIP2_ENST00000588801.1_5'UTR NM_024430.3 NP_077748.3 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting protein 2 45 FCH. membrane p.R45M(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 17 ATCATCGTACCTTTCTTTTAG 0.428000 24 171 2.44723e-14 3.68413e-14 0.004656 1 0 PLA2G2F 64600 broad.mit.edu 37 1 20474888 20474888 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:20474888T>A ENST00000375102.3 + 5 732 c.630T>A c.(628-630)ccT>ccA p.P210P NM_022819.3 NP_073730.3 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 167 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity p.P210P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CCCCCGCCCCTCCCTAGAGCC 0.652000 8 36 0 0 0.006214 0 0 AZGP1 563 broad.mit.edu 37 7 99565973 99565973 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:99565973C>T ENST00000411734.1 - 3 414 c.409G>A c.(409-411)Gat>Aat p.D137N AZGP1_ENST00000292401.4_Missense_Mutation_p.D140N P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 140 antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity p.D140N(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) TCCTTTCCATCATAGTAATAT 0.498000 8 474 0 0 0.004482 0 0 CSMD3 114788 broad.mit.edu 37 8 113988189 113988189 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:113988189C>A ENST00000297405.5 - 7 1463 c.1219G>T c.(1219-1221)Gac>Tac p.D407Y CSMD3_ENST00000343508.3_Missense_Mutation_p.D367Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D407Y|CSMD3_ENST00000455883.2_Intron NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 407 integral to membrane|plasma membrane p.D407Y(1)|p.D367Y(1) 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 GTGTTGGGGTCCAGACCTGAA 0.478000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 9 162 3.86212e-05 4.50194e-05 0.008291 1 0 RET 5979 broad.mit.edu 37 10 43596063 43596063 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:43596063G>T ENST00000355710.3 + 2 462 c.230G>T c.(229-231)cGc>cTc p.R77L RET_ENST00000340058.5_Missense_Mutation_p.R77L NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 77 R -> C (in HSCR1). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.R77H(1)|p.R77L(1) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GGCACGTACCGCACACGGCTG 0.642000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 12 20 3.07112e-06 3.73223e-06 0.000978 1 0 BLVRB 645 broad.mit.edu 37 19 40957343 40957343 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:40957343C>T ENST00000263368.4 - 4 542 c.391G>A c.(391-393)Gac>Aac p.D131N BLVRB_ENST00000595483.1_Intron NM_000713.2 NP_000704.1 P30043 BLVRB_HUMAN biliverdin reductase B (flavin reductase (NADPH)) 131 heme catabolic process cytosol biliverdin reductase activity|binding|flavin reductase activity p.D131N(1) large_intestine(3)|lung(3) 6 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) NADH(DB00157)|Riboflavin(DB00140) CGGATGTGGTCATCAGTCACA 0.607000 4 28 0 0 0.001168 0 0 BNC2 54796 broad.mit.edu 37 9 16552765 16552765 + Splice_Site SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:16552765T>A ENST00000380672.4 - 5 491 c.e5-2 BNC2_ENST00000380666.2_Splice_Site|BNC2_ENST00000380667.2_Splice_Site|BNC2_ENST00000545497.1_Splice_Site NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding p.?(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) TATCCAAGGCTGTGGTGGTCC 0.512000 13 43 0 0 0.001855 0 0 SPG11 80208 broad.mit.edu 37 15 44905680 44905680 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:44905680G>C ENST00000261866.7 - 17 3109 c.3093C>G c.(3091-3093)caC>caG p.H1031Q SPG11_ENST00000535302.2_Missense_Mutation_p.H1031Q|SPG11_ENST00000427534.2_Missense_Mutation_p.H1031Q|SPG11_ENST00000558319.1_Missense_Mutation_p.H1031Q NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1031 cell death cytosol|integral to membrane|nucleus protein binding p.H1031Q(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CAAACCAAGGGTGTGCTTCAT 0.343000 11 52 0 0 0.000978 0 0 OR2L3 391192 broad.mit.edu 37 1 248224332 248224332 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248224332A>G ENST00000359959.3 + 1 349 c.349A>G c.(349-351)Atg>Gtg p.M117V OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M117V(1) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 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;0.0278) TTTGGCATCTATGGCCTATGA 0.438000 6 410 0 0 0.001984 0 0 OR5D14 219436 broad.mit.edu 37 11 55563765 55563765 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55563765C>T ENST00000335605.1 + 1 734 c.734C>T c.(733-735)tCc>tTc p.S245F NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S245F(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) ACCTGGGCCTCCCACCTGACT 0.463000 19 126 0 0 0.002780 0 0 GRM1 2911 broad.mit.edu 37 6 146720216 146720216 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:146720216C>G ENST00000392299.2 + 8 2511 c.2041C>G c.(2041-2043)Cgt>Ggt p.R681G GRM1_ENST00000492807.2_Missense_Mutation_p.R681G|GRM1_ENST00000355289.4_Missense_Mutation_p.R681G|GRM1_ENST00000507907.1_Missense_Mutation_p.R681G|GRM1_ENST00000282753.1_Missense_Mutation_p.R681G|GRM1_ENST00000361719.2_Missense_Mutation_p.R681G Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 681 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity p.R681G(2) NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TAAAACCAATCGTATTGCACG 0.527000 5 376 0 0 0.000602 0 0 SP140 11262 broad.mit.edu 37 2 231177387 231177387 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:231177387T>A ENST00000392045.3 + 27 2706 c.2592T>A c.(2590-2592)aaT>aaA p.N864K SP140_ENST00000343805.6_Missense_Mutation_p.N804K|SP140_ENST00000486687.2_Intron|SP140_ENST00000420434.3_Missense_Mutation_p.N837K|SP140_ENST00000417495.3_Missense_Mutation_p.N750K|SP140_ENST00000350136.5_Missense_Mutation_p.N733K NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 864 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N864K(1) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGGAAACAAATGGGAACAATT 0.398000 17 154 0 0 0.004007 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31655228 31655228 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:31655228G>T ENST00000340345.4 - 1 48 c.23C>A c.(22-24)aCt>aAt p.T8N NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 8 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 ATAGCCTGTAGTAGACATGGA 0.493000 8 29 9.70103e-10 1.33423e-09 0.008291 1 0 HFM1 164045 broad.mit.edu 37 1 91742226 91742226 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:91742226T>A ENST00000370425.3 - 32 3645 c.3547A>T c.(3547-3549)Agg>Tgg p.R1183W HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.R862W|HFM1_ENST00000294696.5_Missense_Mutation_p.R415W NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1183 ATP binding|ATP-dependent helicase activity|nucleic acid binding p.R1183W(1) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ACAGCATTCCTGTTTCTTAAA 0.294000 5 24 0 0 0.001984 0 0 LAMA2 3908 broad.mit.edu 37 6 129833584 129833584 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:129833584G>A ENST00000421865.2 + 63 8983 c.8934G>A c.(8932-8934)ctG>ctA p.L2978L NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2978 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.L2978L(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAGTTCTTCTGGGGATCAGTA 0.358000 21 225 0 0 0.003954 0 0 TTN 7273 broad.mit.edu 37 2 179440938 179440938 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179440938C>A ENST00000589042.1 - 326 70145 c.69921G>T c.(69919-69921)caG>caT p.Q23307H TTN_ENST00000342175.6_Missense_Mutation_p.Q14434H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q14242H|TTN_ENST00000342992.6_Missense_Mutation_p.Q20739H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q21666H|TTN_ENST00000359218.5_Missense_Mutation_p.Q14367H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21666 Fibronectin type-III 69. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.Q14242H(1)|p.Q14367H(1)|p.Q20739H(1)|p.Q14434H(1)|p.Q20737H(1) 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) TTTCTTTAGTCTGAAGATCAG 0.473000 11 90 0.00010058 0.000116266 0.001368 1 0 FAM81B 153643 broad.mit.edu 37 5 94727200 94727200 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:94727200C>A ENST00000283357.5 + 1 153 c.107C>A c.(106-108)gCa>gAa p.A36E NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 36 p.A36E(1) central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) GCTGGAAAAGCAAGCATCATG 0.299000 13 95 2.32078e-09 3.14293e-09 0.003163 1 0 FBXL7 23194 broad.mit.edu 37 5 15928063 15928063 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:15928063C>A ENST00000504595.1 + 3 673 c.192C>A c.(190-192)ctC>ctA p.L64L FBXL7_ENST00000510662.1_Silent_p.L17L|FBXL7_ENST00000329673.7_Silent_p.L52L NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 64 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.L64L(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CACCGAATCTCCCAGGATTTC 0.607000 7 100 4.68919e-08 6.07094e-08 0.008291 1 0 OTX1 5013 broad.mit.edu 37 2 63283009 63283009 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:63283009G>A ENST00000366671.3 + 5 899 c.623G>A c.(622-624)cGc>cAc p.R208H OTX1_ENST00000282549.2_Missense_Mutation_p.R208H NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 208 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R208H(1) endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) TGTATGCAGCGCTCCGTAGCT 0.682000 3 7 0 0 0.004672 0 0 CES5A 221223 broad.mit.edu 37 16 55883641 55883641 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:55883641G>T ENST00000521992.1 - 12 1550 c.1405C>A c.(1405-1407)Cag>Aag p.Q469K CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000290567.9_Missense_Mutation_p.Q440K|CES5A_ENST00000518005.1_Missense_Mutation_p.Q334K|CES5A_ENST00000520435.1_Missense_Mutation_p.Q410K|CES5A_ENST00000319165.9_Intron NM_001190158.1 NP_001177087.1 Q6NT32 EST5A_HUMAN carboxylesterase 5A 440 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.Q469K(1) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 TCAAAGCACTGAGGCCGGTGC 0.557000 10 37 1.52009e-12 2.23638e-12 0.003163 1 0 IL10RB 3588 broad.mit.edu 37 21 34640770 34640770 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:34640770G>T ENST00000290200.2 + 2 229 c.121G>T c.(121-123)Gag>Tag p.E41* AP000295.9_ENST00000433395.2_Silent_p.G168G NM_000628.4 NP_000619.3 interleukin 10 receptor, beta p.E41*(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 TCTACAGTGGGAGTCACCTGC 0.458000 13 53 5.50884e-06 6.63658e-06 0.001368 1 0 SNHG14 104472715 broad.mit.edu 37 15 25422001 25422001 + RNA SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:25422001A>G ENST00000441592.2 + 0 224 SNORD115-4_ENST00000363810.1_RNA AGAACTTTATATTGTTCTGAA 0.527000 57 184 0 0 0.003610 0 0 ZFP82 284406 broad.mit.edu 37 19 36884792 36884792 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:36884792A>G ENST00000392161.3 - 5 692 c.450T>C c.(448-450)tcT>tcC p.S150S ZFP82_ENST00000392171.1_Silent_p.S150S NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 150 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S150S(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTTTCTGGTAAGAGGACACCT 0.418000 35 114 0 0 0.003755 0 0 TG 7038 broad.mit.edu 37 8 133941335 133941335 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:133941335G>C ENST00000220616.4 + 23 4754 c.4714G>C c.(4714-4716)Gag>Cag p.E1572Q TG_ENST00000542445.1_Missense_Mutation_p.E6Q|TG_ENST00000377869.1_Missense_Mutation_p.E1515Q NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1572 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.E1572Q(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCAGAAGTTTGAGAAGGTTCC 0.453000 4 130 0 0 0.000602 0 0 TGM4 7047 broad.mit.edu 37 3 44951615 44951615 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:44951615C>T ENST00000296125.4 + 11 1429 c.1361C>T c.(1360-1362)gCc>gTc p.A454V NM_003241.3 NP_003232.2 P49221 TGM4_HUMAN transglutaminase 4 454 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.A454V(1) NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) ATGGATCATGCCTTCCTCCTT 0.507000 9 40 0 0 0.006214 0 0 ENTHD1 150350 broad.mit.edu 37 22 40283548 40283548 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:40283548G>A ENST00000325157.6 - 2 455 c.205C>T c.(205-207)Cgc>Tgc p.R69C NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 69 ENTH. p.R69C(1) breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) TACACGTGGCGCCAGTTCTTC 0.403000 6 248 0 0 0.001984 0 0 COL3A1 1281 broad.mit.edu 37 2 189862452 189862452 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:189862452A>G ENST00000304636.3 + 27 2066 c.1896A>G c.(1894-1896)acA>acG p.T632T COL3A1_ENST00000317840.5_Silent_p.T632T NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 632 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.T632T(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AAGGAGACACAGGACCCCCTG 0.373000 6 54 0 0 0.001168 0 0 KIAA1462 57608 broad.mit.edu 37 10 30317933 30317933 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:30317933C>A ENST00000375377.1 - 3 1245 c.1144G>T c.(1144-1146)Gcc>Tcc p.A382S NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 382 Pro-rich. p.A382S(1) breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TGACCGCTGGCCCCAGCCTTC 0.632000 54 119 7.77372e-23 1.29473e-22 0.003610 1 0 SV2A 9900 broad.mit.edu 37 1 149881030 149881030 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:149881030A>G ENST00000369146.3 - 7 1763 c.1273T>C c.(1273-1275)Ttg>Ctg p.L425L SV2A_ENST00000369145.1_Silent_p.L425L NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 425 neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.L425L(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) CCTAGGCTCAAGGCCCGGACC 0.562000 81 61 0 0 0.003610 0 0 PAPSS1 9061 broad.mit.edu 37 4 108552980 108552980 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:108552980C>A ENST00000265174.4 - 11 1815 c.1543G>T c.(1543-1545)Gcc>Tcc p.A515S NM_005443.4 NP_005434.4 O43252 PAPS1_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 1 515 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|sulfate adenylyltransferase (ATP) activity p.A515S(1) NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1) 16 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.49e-05) TAAAAGTTGGCTCCTGCAACC 0.433000 6 40 0.00198382 0.00215952 0.001984 1 0 SAMD9 54809 broad.mit.edu 37 7 92733059 92733059 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:92733059C>A ENST00000379958.2 - 3 2621 c.2352G>T c.(2350-2352)ggG>ggT p.G784G NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 784 cytoplasm p.G784G(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GGTTCATTGCCCCATAGGTGA 0.388000 37 168 2.52637e-11 3.6235e-11 0.005524 1 0 PNLIP 5406 broad.mit.edu 37 10 118314780 118314780 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:118314780C>A ENST00000369221.2 + 7 690 c.662C>A c.(661-663)aCg>aAg p.T221K NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 221 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity p.T221K(2) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) GTAATTCACACGGATGGTGCC 0.483000 11 96 1.08611e-07 1.37858e-07 0.000978 1 0 LMOD3 56203 broad.mit.edu 37 3 69168667 69168667 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:69168667T>C ENST00000420581.2 - 2 1018 c.839A>G c.(838-840)aAa>aGa p.K280R LMOD3_ENST00000489031.1_Missense_Mutation_p.K280R|LMOD3_ENST00000475434.1_Missense_Mutation_p.K280R NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 280 cytoplasm|cytoskeleton tropomyosin binding p.K280R(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) GTGCTTGTTTTTCTTCATTGC 0.388000 21 127 0 0 0.001882 0 0 VPS4B 9525 broad.mit.edu 37 18 61077680 61077680 + Splice_Site SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:61077680C>G ENST00000238497.5 - 3 343 c.e3-1 VPS4B_ENST00000591519.1_Splice_Site NM_004869.3 NP_004860.2 O75351 VPS4B_HUMAN vacuolar protein sorting 4 homolog B (S. cerevisiae) cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding p.?(1) breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 13 TGTGCTTCATCTATTAAAGGG 0.318000 10 190 0 0 0.000978 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291632 1291632 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:1291632C>A ENST00000461509.2 + 3 646 c.452C>A c.(451-453)cCt>cAt p.P151H TPSAB1_ENST00000338844.3_Missense_Mutation_p.P144H P20231 TRYB2_HUMAN tryptase alpha/beta 1 144 Peptidase S1. proteolysis extracellular region protein binding|serine-type endopeptidase activity p.P144H(1) NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1) 10 Hepatocellular(780;0.00369) ACCCTGCCCCCTGCCTCAGAG 0.672000 3 12 0.00116845 0.00129221 0.001168 1 0 TMEM132A 54972 broad.mit.edu 37 11 60703933 60703933 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:60703933C>G ENST00000005286.4 + 11 2782 c.2629C>G c.(2629-2631)Cag>Gag p.Q877E TMEM132A_ENST00000453848.2_Missense_Mutation_p.Q876E NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 876 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity). endoplasmic reticulum membrane|Golgi membrane|integral to membrane p.Q877E(2) breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCTGCGCTATCAGCGCAAAGA 0.607000 7 194 0 0 0.001984 0 0 LPHN3 23284 broad.mit.edu 37 4 62775373 62775373 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:62775373G>T ENST00000512091.1 + 11 2526 c.1779G>T c.(1777-1779)cgG>cgT p.R593R LPHN3_ENST00000507164.1_Silent_p.R661R|LPHN3_ENST00000506720.1_Silent_p.R661R|LPHN3_ENST00000545650.1_Silent_p.R593R|LPHN3_ENST00000506746.1_Silent_p.R661R|LPHN3_ENST00000508946.1_Silent_p.R593R|LPHN3_ENST00000514996.1_Silent_p.R593R|LPHN3_ENST00000511324.1_Silent_p.R661R|LPHN3_ENST00000514157.1_Silent_p.R593R|LPHN3_ENST00000508693.1_Silent_p.R661R|LPHN3_ENST00000509896.1_Silent_p.R661R|LPHN3_ENST00000506700.1_Silent_p.R593R|LPHN3_ENST00000514591.1_Silent_p.R593R|LPHN3_ENST00000507625.1_Silent_p.R661R|LPHN3_ENST00000504896.1_Silent_p.R593R Q9HAR2 LPHN3_HUMAN latrophilin 3 593 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding p.R593R(3) breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 ACTCTGTCCGGGCCATGGACC 0.507000 8 13 4.68919e-08 6.07094e-08 0.008291 1 0 SPATA22 84690 broad.mit.edu 37 17 3366057 3366057 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:3366057C>A ENST00000573128.1 - 4 660 c.177G>T c.(175-177)tgG>tgT p.W59C SPATA22_ENST00000268981.5_Missense_Mutation_p.W59C|SPATA22_ENST00000541913.1_Missense_Mutation_p.W43C|SPATA22_ENST00000572969.1_Missense_Mutation_p.W59C|SPATA22_ENST00000575375.1_Missense_Mutation_p.W59C|SPATA22_ENST00000397168.3_Missense_Mutation_p.W59C|SPATA22_ENST00000355380.4_Missense_Mutation_p.W16C Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 59 p.W59C(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 CTTCCCAGGCCCAATCTCAAA 0.338000 62 123 1.17253e-29 2.01509e-29 0.003610 1 0 SULF2 55959 broad.mit.edu 37 20 46305851 46305851 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:46305851G>T ENST00000359930.4 - 9 2072 c.1221C>A c.(1219-1221)gtC>gtA p.V407V SULF2_ENST00000484875.1_Silent_p.V407V|SULF2_ENST00000467815.1_Silent_p.V407V|SULF2_ENST00000361612.4_Silent_p.V407V NM_018837.3 NP_061325.1 Q8IWU5 SULF2_HUMAN sulfatase 2 407 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding p.V407V(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 AGTCCCGCCAGACCCTCATCT 0.612000 26 99 1.4374e-25 2.44433e-25 0.003610 1 0 RAG1 5896 broad.mit.edu 37 11 36596535 36596535 + Missense_Mutation SNP C C T rs104894285 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:36596535C>T ENST00000299440.5 + 2 1793 c.1681C>T c.(1681-1683)Cgc>Tgc p.R561C NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 561 R -> C (in OS).|R -> H (in OS). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.R561C(1)|p.R561S(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) AAAGAGGTTCCGCTATGATTC 0.468000 Familial Hemophagocytic Lymphohistiocytosis 4 81 0 0 0.000602 0 0 SPAG9 9043 broad.mit.edu 37 17 49072464 49072464 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:49072464C>G ENST00000262013.7 - 18 2388 c.2180G>C c.(2179-2181)cGa>cCa p.R727P SPAG9_ENST00000510283.1_Missense_Mutation_p.R570P|SPAG9_ENST00000357122.4_Missense_Mutation_p.R713P|SPAG9_ENST00000505279.1_Missense_Mutation_p.R717P NM_001130528.2 NP_001124000.1 O60271 JIP4_HUMAN sperm associated antigen 9 727 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm p.R713P(1)|p.R713Q(1) NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) AGAGGCACTTCGCTGTTTACT 0.398000 54 120 0 0 0.003610 0 0 PCDH10 57575 broad.mit.edu 37 4 134073068 134073068 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:134073068C>A ENST00000264360.4 + 1 2599 c.1773C>A c.(1771-1773)ccC>ccA p.P591P NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 591 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P591P(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) AGGTGCTGCCCCGCTCGGCGG 0.667000 20 23 3.62473e-10 5.04243e-10 0.001882 1 0 MRPL11 65003 broad.mit.edu 37 11 66204347 66204347 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:66204347C>A ENST00000329819.4 - 5 586 c.507G>T c.(505-507)aaG>aaT p.K169N MRPL11_ENST00000310999.7_Intron|MRPL11_ENST00000524576.1_Intron|MRPL11_ENST00000430466.2_Intron NM_170739.2 NP_733935.1 Q9Y3B7 RM11_HUMAN mitochondrial ribosomal protein L11 0 translation structural constituent of ribosome p.K169N(1) endometrium(3)|lung(2)|ovary(1)|prostate(1) 7 TCATGGAGATCTTTCCATTTC 0.488000 17 145 1.99824e-07 2.51659e-07 0.004990 1 0 MAGI3 260425 broad.mit.edu 37 1 114189213 114189213 + Missense_Mutation SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:114189213T>G ENST00000369615.1 + 12 2166 c.2104T>G c.(2104-2106)Ttg>Gtg p.L702V MAGI3_ENST00000307546.9_Missense_Mutation_p.L702V|MAGI3_ENST00000369617.4_Missense_Mutation_p.L727V|MAGI3_ENST00000369611.4_Missense_Mutation_p.L702V NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 727 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding p.L702V(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) ATCCCCAAAATTGGATCCTTC 0.383000 13 76 0 0 0.002450 0 0 CENPF 1063 broad.mit.edu 37 1 214819878 214819878 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:214819878A>C ENST00000366955.3 + 13 7133 c.6965A>C c.(6964-6966)cAa>cCa p.Q2322P NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 2418 2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding p.Q2322P(1) NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) TGTGTCTTACAACAACTGAAG 0.453000 9 160 0 0 0.000978 0 0 TECRL 253017 broad.mit.edu 37 4 65146765 65146765 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:65146765G>T ENST00000381210.3 - 11 1068 c.958C>A c.(958-960)Ctg>Atg p.L320M TECRL_ENST00000507440.1_Missense_Mutation_p.L320M NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 320 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors p.L320M(1) endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TTACCTGGCAGTGTTTGTGTC 0.279000 12 23 4.75885e-15 7.25407e-15 0.004990 1 0 XYLT1 64131 broad.mit.edu 37 16 17353089 17353089 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:17353089G>T ENST00000261381.6 - 3 753 c.669C>A c.(667-669)gcC>gcA p.A223A NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 223 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.A223A(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TGTTGGCTGCGGCTCTGTCCC 0.592000 34 165 3.62531e-18 5.65036e-18 0.004289 1 0 ZNF679 168417 broad.mit.edu 37 7 63726941 63726941 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:63726941C>T ENST00000421025.1 + 5 1199 c.930C>T c.(928-930)tcC>tcT p.S310S ZNF679_ENST00000255746.4_Silent_p.S310S NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S310S(1) endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 TATCCTCATCCCTCACTTACC 0.423000 6 46 0 0 0.003080 0 0 MRC2 9902 broad.mit.edu 37 17 60768328 60768328 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:60768328A>T ENST00000303375.5 + 28 4433 c.4031A>T c.(4030-4032)cAg>cTg p.Q1344L MRC2_ENST00000446119.2_Missense_Mutation_p.Q210L NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1344 C-type lectin 8. endocytosis integral to membrane receptor activity|sugar binding p.Q1344L(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CTGGTCTGGCAGGACAACACA 0.607000 7 18 0 0 0.004482 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768314 77768314 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:77768314A>T ENST00000521891.2 + 10 9605 c.9157A>T c.(9157-9159)Acc>Tcc p.T3053S ZFHX4_ENST00000455469.2_Missense_Mutation_p.T3008S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T3027S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T3008S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3008 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T3037S(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTTGGCTCCGACCACGGTTCG 0.507000 HNSCC(33;0.089) 53 86 0 0 0.003610 0 0 KIAA0408 9729 broad.mit.edu 37 6 127775032 127775032 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:127775032C>A ENST00000483725.3 - 2 431 c.95G>T c.(94-96)tGg>tTg p.W32L SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000368268.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 32 protein binding p.W32L(1) endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TTGACTTTCCCATTCCTTTCT 0.373000 13 140 4.36969e-10 6.06138e-10 0.001855 1 0 ZMAT1 84460 broad.mit.edu 37 X 101138621 101138621 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:101138621A>C ENST00000458570.1 - 9 2595 c.1265T>G c.(1264-1266)cTt>cGt p.L422R ZMAT1_ENST00000540921.1_Missense_Mutation_p.L593R|ZMAT1_ENST00000372782.3_Missense_Mutation_p.L593R|ZMAT1_ENST00000494068.1_5'UTR A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 422 nucleus zinc ion binding p.L593R(1)|p.L422R(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 TCGATGCTTAAGCTTTCCTGA 0.373000 6 122 0 0 0.006214 0 0 DUSP27 92235 broad.mit.edu 37 1 167095983 167095983 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:167095983G>T ENST00000361200.2 + 6 1781 c.1615G>T c.(1615-1617)Gac>Tac p.D539Y DUSP27_ENST00000443333.1_Missense_Mutation_p.D539Y|DUSP27_ENST00000271385.5_Missense_Mutation_p.D539Y|DUSP27_ENST00000485151.1_Intron Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 539 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity p.D539Y(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CAGGAACAAGGACAAGCTCAC 0.552000 26 218 1.5548e-18 2.43502e-18 0.005443 1 0 CADM3 57863 broad.mit.edu 37 1 159166690 159166690 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:159166690G>T ENST00000368125.4 + 7 949 c.792G>T c.(790-792)caG>caT p.Q264H CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.Q298H|CADM3_ENST00000497636.1_3'UTR NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 264 Ig-like C2-type 2. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity p.Q298H(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) GCCCCCAGCAGTACCTATGGG 0.527000 15 203 2.23348e-06 2.72794e-06 0.004007 1 0 CUBN 8029 broad.mit.edu 37 10 16878337 16878337 + Silent SNP C C A rs147563157 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:16878337C>A ENST00000377833.4 - 63 10142 c.10077G>T c.(10075-10077)tcG>tcT p.S3359S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3359 CUB 25. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.A3360S(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTGGCACAGCCGAAGCATTTC 0.393000 10 97 3.86212e-05 4.50194e-05 0.008291 1 0 ZNF607 84775 broad.mit.edu 37 19 38190487 38190487 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:38190487G>C ENST00000355202.4 - 5 1140 c.545C>G c.(544-546)cCt>cGt p.P182R CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.P181R NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P182R(1) cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) AAGGTTTGCAGGATAACTGAA 0.403000 13 159 0 0 0.001855 0 0 LRP2 4036 broad.mit.edu 37 2 170009461 170009461 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:170009461G>A ENST00000263816.3 - 67 12594 c.12309C>T c.(12307-12309)taC>taT p.Y4103Y NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4103 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding p.Y4103Y(1) biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTCGCACAGTGTAATACACAA 0.478000 77 230 0 0 0.003610 0 0 KDM1B 221656 broad.mit.edu 37 6 18166609 18166609 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:18166609G>T ENST00000388870.2 + 6 658 c.417_splice c.e6+1 p.W139_splice KDM1B_ENST00000397244.1_Splice_Site_p.W139_splice|KDM1B_ENST00000297792.5_Splice_Site_p.W139_splice|KDM1B_ENST00000546309.2_Intron Q8NB78 KDM1B_HUMAN lysine (K)-specific demethylase 1B 139 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding p.W139C(1) breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 TCCCCTACTGGGTAAGGAGAG 0.408000 11 54 2.27111e-07 2.84916e-07 0.001368 1 0 TOMM20L 387990 broad.mit.edu 37 14 58869474 58869474 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:58869474C>A ENST00000360945.2 + 3 299 c.257C>A c.(256-258)tCt>tAt p.S86Y RP11-517O13.1_ENST00000556734.1_RNA NM_207377.2 NP_997260.1 Q6UXN7 TO20L_HUMAN translocase of outer mitochondrial membrane 20 homolog (yeast)-like 86 protein targeting integral to membrane|mitochondrial outer membrane translocase complex p.S86Y(1) large_intestine(2)|lung(2) 4 CTTTGGTTATCTAGAGGTAAG 0.308000 21 113 4.26978e-12 6.20652e-12 0.003330 1 0 ETNPPL 64850 broad.mit.edu 37 4 109672168 109672168 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:109672168C>A ENST00000296486.3 - 7 779 c.625G>T c.(625-627)Gcc>Tcc p.A209S ETNPPL_ENST00000411864.2_Missense_Mutation_p.A203S|ETNPPL_ENST00000512646.1_Missense_Mutation_p.A151S|ETNPPL_ENST00000510706.1_Missense_Mutation_p.A169S NM_001146590.1|NM_031279.3 NP_001140062.1|NP_112569.2 ethanolamine-phosphate phospho-lyase p.A209S(1) GCAATAAAGGCAGCAATCTAT 0.433000 59 94 6.12789e-21 9.93352e-21 0.003610 1 0 CCR8 1237 broad.mit.edu 37 3 39374243 39374243 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:39374243G>A ENST00000326306.4 + 2 559 c.421G>A c.(421-423)Gcc>Acc p.A141T CCR8_ENST00000414803.1_Missense_Mutation_p.C83Y|CCR8_ENST00000545843.1_Missense_Mutation_p.A58T NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 141 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity p.A141N(1) NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) TGCCGTGTATGCCCTAAAGGT 0.498000 37 251 0 0 0.006230 0 0 FGF21 26291 broad.mit.edu 37 19 49260247 49260247 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:49260247G>T ENST00000593756.1 + 3 872 c.300G>T c.(298-300)agG>agT p.R100S FGF21_ENST00000222157.3_Missense_Mutation_p.R100S Q9NSA1 FGF21_HUMAN fibroblast growth factor 21 100 cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import extracellular region|soluble fraction growth factor activity p.R100S(1) breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 8 all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) AGACATCCAGGTTCCTGTGCC 0.562000 7 253 1.12685e-05 1.34419e-05 0.004482 1 0 ARHGAP15 55843 broad.mit.edu 37 2 143913162 143913162 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:143913162C>G ENST00000409869.1 + 3 280 c.103C>G c.(103-105)Cat>Gat p.H35D ARHGAP15_ENST00000295095.6_Missense_Mutation_p.H35D Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 35 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity p.H35D(1) endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) CAACAGCCACCATGACAGGCT 0.458000 10 71 0 0 0.006214 0 0 CSMD1 64478 broad.mit.edu 37 8 2965290 2965290 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:2965290G>T ENST00000520002.1 - 46 7343 c.6788C>A c.(6787-6789)cCa>cAa p.P2263Q CSMD1_ENST00000602723.1_Missense_Mutation_p.P2263Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2262Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2263Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2262Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2263Q Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2263 Sushi 13. integral to membrane p.P1991Q(1)|p.P2262Q(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGGAACCGCTGGGGGAGGTTG 0.333000 13 165 9.31168e-06 1.11488e-05 0.001855 1 0 CORIN 10699 broad.mit.edu 37 4 47663813 47663813 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:47663813C>A ENST00000273857.4 - 12 1649 c.1650G>T c.(1648-1650)caG>caT p.Q550H CORIN_ENST00000504584.1_Missense_Mutation_p.Q513H|CORIN_ENST00000508498.1_Missense_Mutation_p.Q411H|CORIN_ENST00000505909.1_Missense_Mutation_p.Q513H|CORIN_ENST00000502252.1_Missense_Mutation_p.Q483H NM_006587.2 NP_006578.2 Q9Y5Q5 CORIN_HUMAN corin, serine peptidase 550 FZ 2. peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity p.Q550H(1) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 CTTCAGGCCACTGTAGGCCCA 0.398000 14 47 3.27435e-08 4.26193e-08 0.002450 1 0 HPR 3250 broad.mit.edu 37 16 72110394 72110394 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:72110394C>A ENST00000540303.2 + 5 493 c.461C>A c.(460-462)gCa>gAa p.A154E HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Missense_Mutation_p.A154E|HPR_ENST00000228226.8_Missense_Mutation_p.A191E NM_020995.3 NP_066275.3 P00739 HPTR_HUMAN haptoglobin-related protein 154 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity p.A154E(1) 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) TCAGAAAATGCAACAGCGAAA 0.463000 16 40 6.44725e-10 8.90509e-10 0.002299 1 0 CERS3 204219 broad.mit.edu 37 15 100942989 100942989 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:100942989C>A ENST00000284382.4 - 13 1504 c.1081G>T c.(1081-1083)Gag>Tag p.E361* RP11-168G16.2_ENST00000560643.1_RNA|CERS3_ENST00000538112.2_Nonsense_Mutation_p.E361*|CERS3_ENST00000560944.1_5'UTR|RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000394113.1_Nonsense_Mutation_p.E361* NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 361 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity p.E361*(1) CAATCCATCTCTTTGCCTTTG 0.493000 6 40 5.9392e-07 7.41255e-07 0.001168 1 0 ASIC4 55515 broad.mit.edu 37 2 220379622 220379622 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:220379622G>T ENST00000358078.4 + 1 571 c.557G>T c.(556-558)gGc>gTc p.G186V ASIC4_ENST00000347842.3_Missense_Mutation_p.G186V|AC053503.11_ENST00000429882.1_RNA Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 186 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity p.G186V(1) CGGGCCTGTGGCCCAGGCCCC 0.716000 29 90 7.11191e-15 1.07901e-14 0.002836 1 0 RAG1 5896 broad.mit.edu 37 11 36596940 36596940 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:36596940G>T ENST00000299440.5 + 2 2198 c.2086G>T c.(2086-2088)Ggc>Tgc p.G696C NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 696 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding p.G696C(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TGAGCTGGGAGGCATTCTCCG 0.532000 Familial Hemophagocytic Lymphohistiocytosis 28 62 1.68575e-08 2.22099e-08 0.007291 1 0 KIAA1324 57535 broad.mit.edu 37 1 109740147 109740147 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:109740147G>T ENST00000369939.3 + 16 2356 c.2173G>T c.(2173-2175)Gag>Tag p.E725* KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.E638*|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 725 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane p.E725*(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CCGGATTCCTGAGGGTGAGTC 0.552000 12 107 6.42651e-13 9.51241e-13 0.000978 1 0 OR2AK2 391191 broad.mit.edu 37 1 248129470 248129470 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248129470C>T ENST00000366480.3 + 1 936 c.837C>T c.(835-837)tcC>tcT p.S279S OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S279S(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GGCCACACTCCTTGCGTTCCC 0.478000 43 69 0 0 0.002852 0 0 OR2T3 343173 broad.mit.edu 37 1 248637034 248637034 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248637034A>G ENST00000359594.2 + 1 408 c.383A>G c.(382-384)tAt>tGt p.Y128C NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 128 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y128C(1) breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TATGACCGATATGCTGCTGTT 0.552000 11 81 0 0 0.010504 0 0 CR1L 1379 broad.mit.edu 37 1 207890857 207890857 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:207890857G>C ENST00000508064.2 + 11 1523 c.1463G>C c.(1462-1464)gGa>gCa p.G488A NM_175710.1 NP_783641.1 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 488 Sushi 8. cytoplasm|extracellular region|membrane p.G488E(1)|p.G488A(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 AGACACACAGGAACTCCCCTT 0.428000 5 179 0 0 0.000602 0 0 CACNA1E 777 broad.mit.edu 37 1 181741231 181741231 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:181741231T>C ENST00000526775.1 + 36 5111 c.4946T>C c.(4945-4947)aTt>aCt p.I1649T CACNA1E_ENST00000367573.2_Missense_Mutation_p.I1668T|CACNA1E_ENST00000360108.3_Missense_Mutation_p.I1649T|CACNA1E_ENST00000367570.1_Missense_Mutation_p.I1668T|CACNA1E_ENST00000367567.4_Missense_Mutation_p.I1275T|CACNA1E_ENST00000357570.5_Missense_Mutation_p.I1619T|CACNA1E_ENST00000358338.5_Missense_Mutation_p.I1600T NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1668 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.I1668T(2) NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGGCAGGAGATTATGCTGTCA 0.567000 48 63 0 0 0.003610 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57870424 57870424 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:57870424T>A ENST00000393797.2 - 10 1379 c.1187A>T c.(1186-1188)aAg>aTg p.K396M ARHGAP9_ENST00000393791.3_Missense_Mutation_p.K325M|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.K325M|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.K404M|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.K141M|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.K325M Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 325 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding p.K325M(1) endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CAGACCCGACTTTTCCACCTC 0.582000 5 187 0 0 0.000602 0 0 NLRP14 338323 broad.mit.edu 37 11 7064041 7064041 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:7064041G>A ENST00000299481.4 + 4 1130 c.784G>A c.(784-786)Gat>Aat p.D262N NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 262 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding p.D262N(1) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TGACAGTTTCGATGAACTGAA 0.453000 42 138 0 0 0.008740 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091689 143091689 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:143091689C>A ENST00000367603.2 - 5 4929 c.4187G>T c.(4186-4188)gGg>gTg p.G1396V HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1396V|HIVEP2_ENST00000367604.1_Missense_Mutation_p.G1396V NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G1396L(1) NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CGCATGCTGCCCCAGCACCTG 0.522000 11 80 3.07112e-06 3.73223e-06 0.000978 1 0 ITGA4 3676 broad.mit.edu 37 2 182395301 182395301 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:182395301A>T ENST00000397033.2 + 24 3019 c.2589A>T c.(2587-2589)ttA>ttT p.L863F NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 863 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity p.L863F(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TGTGTGCATTAGAGCAGCAAA 0.383000 5 154 0 0 0.000602 0 0 ZNF501 115560 broad.mit.edu 37 3 44776034 44776034 + Nonsense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:44776034C>T ENST00000396048.2 + 3 558 c.121C>T c.(121-123)Cag>Tag p.Q41* NM_001258280.1|NM_145044.3 NP_001245209.1|NP_659481.2 Q96CX3 ZN501_HUMAN zinc finger protein 501 41 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q41*(1) breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579) TACCCAGCACCAGAGGATTCA 0.423000 11 61 0 0 0.000978 0 0 MUC4 4585 broad.mit.edu 37 3 195511959 195511959 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:195511959G>A ENST00000463781.3 - 2 6951 c.6492C>T c.(6490-6492)acC>acT p.T2164T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2164T NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 943 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGAAGTGTCGGTGACAGGAA 0.577000 3 4 0 0 0.009096 0 0 PCDH10 57575 broad.mit.edu 37 4 134072018 134072018 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:134072018G>T ENST00000264360.4 + 1 1549 c.723G>T c.(721-723)ctG>ctT p.L241L NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 241 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L241L(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TCCGAGTGCTGGACTCCAATG 0.647000 10 77 5.50884e-06 6.63658e-06 0.001368 1 0 IQGAP3 128239 broad.mit.edu 37 1 156501027 156501027 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:156501027C>A ENST00000361170.2 - 33 4126 c.4116G>T c.(4114-4116)ctG>ctT p.L1372L NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1372 small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity p.L1372L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TATCGGCCAACAGCTGCTTGG 0.597000 23 121 9.57634e-11 1.35746e-10 0.003330 1 0 KCNA4 3739 broad.mit.edu 37 11 30034035 30034035 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:30034035T>C ENST00000328224.6 - 2 1424 c.191A>G c.(190-192)cAc>cGc p.H64R NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 64 Poly-His. voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity p.H64R(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TGACTGGTGGTGGTGGTGGGA 0.652000 6 25 0 0 0.001855 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215062 140215062 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140215062C>A ENST00000525929.1 + 1 1094 c.1094C>A c.(1093-1095)cCa>cAa p.P365Q PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P365Q NM_018910.2 NP_061733.1 p.P365Q(4) NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGCCCAACCAGGTACCGTC 0.507000 27 144 2.12542e-12 3.12221e-12 0.006320 1 0 CTNNA2 1496 broad.mit.edu 37 2 80136743 80136743 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:80136743G>C ENST00000466387.1 + 11 1600 c.876G>C c.(874-876)atG>atC p.M292I CTNNA2_ENST00000496558.1_Missense_Mutation_p.M292I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M326I|CTNNA2_ENST00000402739.4_Missense_Mutation_p.M292I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M292I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M292I P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 292 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.M292I(2) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 TGGACCCCATGACGTTCAGCG 0.562000 21 167 0 0 0.006320 0 0 OR5L1 219437 broad.mit.edu 37 11 55579237 55579237 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55579237G>A ENST00000333973.2 + 1 384 c.295G>A c.(295-297)Gtg>Atg p.V99M NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M98_V99>IM(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) AGGGTGCATGGTGCAATTCTA 0.453000 46 287 0 0 0.002852 0 0 MORC1 27136 broad.mit.edu 37 3 108778676 108778676 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:108778676T>C ENST00000232603.5 - 12 1090 c.1008A>G c.(1006-1008)caA>caG p.Q336Q MORC1_ENST00000483760.1_Silent_p.Q336Q NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 336 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.Q336Q(1) breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TAAGATTCTTTTGCTTTGCTT 0.368000 20 45 0 0 0.001882 0 0 AMHR2 269 broad.mit.edu 37 12 53819601 53819601 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:53819601A>G ENST00000257863.4 + 6 830 c.750A>G c.(748-750)ccA>ccG p.P250P AMHR2_ENST00000379791.3_Silent_p.P250P|AMHR2_ENST00000550311.1_Silent_p.P250P NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 250 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding p.P250P(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) ACGAACTTCCAGGCCTACAGC 0.597000 3 79 0 0 0.004672 0 0 RDX 5962 broad.mit.edu 37 11 110106875 110106875 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:110106875T>A ENST00000343115.4 - 12 1612 c.1293A>T c.(1291-1293)ctA>ctT p.L431L RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Silent_p.L431L|RDX_ENST00000528498.1_Silent_p.L431L|RDX_ENST00000528900.1_Silent_p.L84L|RDX_ENST00000544551.1_Silent_p.L295L NM_001260494.1|NM_002906.3 NP_001247423.1|NP_002897.1 P35241 RADI_HUMAN radixin 431 Glu-rich. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding p.L431L(1) endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 18 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) TGGCTTCCTCTAGAAGTGCAA 0.313000 13 169 0 0 0.004990 0 0 SALL1 6299 broad.mit.edu 37 16 51175401 51175401 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:51175401C>G ENST00000440970.1 - 2 872 c.441G>C c.(439-441)ctG>ctC p.L147L SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.L244L NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 244 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L244L(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CGATCAATTGCAGCTGGTGGA 0.542000 28 71 0 0 0.002836 0 0 OR4N5 390437 broad.mit.edu 37 14 20612550 20612550 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20612550C>A ENST00000333629.1 + 1 656 c.656C>A c.(655-657)gCa>gAa p.A219E NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A219E(1) endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) GCCTCCTATGCAGTCATCCTC 0.502000 7 156 2.0095e-06 2.46056e-06 0.001984 1 0 LRRTM4 80059 broad.mit.edu 37 2 77746271 77746271 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:77746271G>T ENST00000409088.3 - 3 1138 c.724C>A c.(724-726)Cgc>Agc p.R242S LRRTM4_ENST00000409282.1_Missense_Mutation_p.R243S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R243S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R242S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.R242S NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 242 integral to membrane p.R242S(2) autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) CTAATGGAGCGAATCCTGTTC 0.448000 5 30 1.024e-07 1.30829e-07 0.000602 1 0 PSG8 440533 broad.mit.edu 37 19 43258604 43258604 + Nonsense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:43258604G>C ENST00000404209.4 - 5 1220 c.1124C>G c.(1123-1125)tCa>tGa p.S375* PSG8_ENST00000406636.3_Nonsense_Mutation_p.S253*|PSG8_ENST00000401467.2_Nonsense_Mutation_p.S282*|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000306511.4_Nonsense_Mutation_p.S375* NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 375 Ig-like C2-type 3. extracellular region p.S375*(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) CTTTTGTCCTGATAGCTGAAA 0.468000 8 464 0 0 0.003080 0 0 MUC2 4583 broad.mit.edu 37 11 1101128 1101128 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:1101128G>T ENST00000441003.2 + 41 7554 c.7527G>T c.(7525-7527)acG>acT p.T2509T NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4871 inner mucus layer|outer mucus layer protein binding p.T2509T(1) NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|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;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ACCTCGCCACGGAGGTCAACC 0.622000 12 62 2.68362e-12 3.91849e-12 0.001368 1 0 TMTC2 160335 broad.mit.edu 37 12 83359552 83359552 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:83359552C>T ENST00000548305.1 + 6 2484 c.1898C>T c.(1897-1899)cCc>cTc p.P633L TMTC2_ENST00000549919.1_Intron|TMTC2_ENST00000321196.3_Intron Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 0 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 TGTCCTTTTCCCTCCCCCTTG 0.453000 23 53 0 0 0.002780 0 0 TTN 7273 broad.mit.edu 37 2 179616645 179616645 + Silent SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179616645A>C ENST00000360870.5 - 46 10704 c.10482T>G c.(10480-10482)tcT>tcG p.S3494S TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3496 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) AGGAGCTTGTAGATGATATTC 0.368000 15 328 0 0 0.003163 0 0 GPR61 83873 broad.mit.edu 37 1 110085968 110085968 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:110085968C>A ENST00000527748.1 + 2 1007 c.324C>A c.(322-324)gcC>gcA p.A108A RP5-1160K1.8_ENST00000526411.1_RNA NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 108 integral to membrane|plasma membrane G-protein coupled receptor activity p.A108A(1) 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) TTGACCACGCCCTCTTTGGGG 0.597000 14 80 7.93312e-07 9.86307e-07 0.002450 1 0 SMYD5 10322 broad.mit.edu 37 2 73449044 73449044 + Nonsense_Mutation SNP G G T rs140745382 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:73449044G>T ENST00000389501.4 + 6 673 c.628G>T c.(628-630)Gga>Tga p.G210* SMYD5_ENST00000474652.1_3'UTR NM_006062.2 NP_006053.2 Q6GMV2 SMYD5_HUMAN SMYD family member 5 210 metal ion binding p.G210*(1)|p.G94*(1) NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 TAAACTTCTGGGAGACAAATT 0.473000 12 108 2.48551e-13 3.71296e-13 0.004990 1 0 OBFC1 79991 broad.mit.edu 37 10 105659884 105659884 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:105659884C>T ENST00000224950.3 - 5 560 c.393G>A c.(391-393)acG>acA p.T131T OBFC1_ENST00000369764.1_Silent_p.T131T|OBFC1_ENST00000466828.1_5'UTR NM_024928.4 NP_079204.2 Q9H668 STN1_HUMAN oligonucleotide/oligosaccharide-binding fold containing 1 131 positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding p.T131T(1) large_intestine(3)|lung(7)|ovary(1)|pancreas(2) 13 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) TGACTCGGATCGTGTCCCCGA 0.458000 6 153 0 0 0.001984 0 0 PRKAG3 53632 broad.mit.edu 37 2 219692035 219692035 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:219692035G>A ENST00000439262.2 - 9 957 c.862C>T c.(862-864)Ccg>Tcg p.P288S PRKAG3_ENST00000392098.3_Silent_p.T297T|PRKAG3_ENST00000545803.1_Missense_Mutation_p.P129S|PRKAG3_ENST00000529249.1_Missense_Mutation_p.P313S NM_017431.2 NP_059127.2 Q9UGI9 AAKG3_HUMAN protein kinase, AMP-activated, gamma 3 non-catalytic subunit 313 CBS 2. cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation cytosol AMP-activated protein kinase activity|protein kinase binding p.P313S(1) large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTGACACCGGGTCAAGAACA 0.582000 6 54 0 0 0.001984 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 5 139 0 0 0.000602 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 7 95 0 0 0.003080 0 0 DEGS1 8560 broad.mit.edu 37 1 224378005 224378005 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:224378005G>C ENST00000323699.4 + 2 975 c.809G>C c.(808-810)gGa>gCa p.G270A DEGS1_ENST00000391877.3_Missense_Mutation_p.G270A NM_003676.3 NP_003667.1 O15121 DEGS1_HUMAN delta(4)-desaturase, sphingolipid 1 270 sphingolipid metabolic process|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity p.G270A(1) breast(1)|kidney(3)|large_intestine(2)|lung(4) 10 Breast(184;0.193) GBM - Glioblastoma multiforme(131;0.00643) AACATTCCTGGAAAAAGTCTT 0.358000 4 129 0 0 0.009096 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431427 56431427 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:56431427A>T ENST00000302969.2 + 1 290 c.266A>T c.(265-267)cAc>cTc p.H89L NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H89L(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 CTAACAAATCACAAAGTTATC 0.498000 10 388 0 0 0.006214 0 0 ANO3 63982 broad.mit.edu 37 11 26538397 26538397 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:26538397C>T ENST00000256737.3 + 6 1467 c.615C>T c.(613-615)atC>atT p.I205I ANO3_ENST00000531568.1_Silent_p.I59I|ANO3_ENST00000537978.1_Silent_p.I189I|ANO3_ENST00000525139.1_Silent_p.I189I NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 205 chloride channel complex chloride channel activity p.I205I(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GCCCCGATATCATGTTTATTA 0.383000 4 28 0 0 0.009096 0 0 DNAJC16 23341 broad.mit.edu 37 1 15888820 15888820 + Splice_Site SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:15888820G>A ENST00000375847.3 + 9 1502 c.1338_splice c.e9+1 p.A446_splice DNAJC16_ENST00000375838.1_Splice_Site_p.A446_splice|DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Splice_Site_p.A446_splice NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 446 cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding p.A446A(1) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) GGAAATCAGCGGTAAGCCACA 0.478000 32 82 0 0 0.002096 0 0 CPS1 1373 broad.mit.edu 37 2 211421526 211421526 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:211421526G>T ENST00000233072.5 + 1 265 c.69G>T c.(67-69)gtG>gtT p.V23V CPS1_ENST00000430249.2_Silent_p.V29V NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 23 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.V29V(1)|p.V23V(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTACCAATGTGACTGCACACC 0.373000 25 116 3.28513e-13 4.89994e-13 0.003954 1 0 ITGA4 3676 broad.mit.edu 37 2 182339715 182339715 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:182339715G>T ENST00000397033.2 + 3 778 c.348G>T c.(346-348)aaG>aaT p.K116N ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Missense_Mutation_p.K116N NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 116 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity p.K116N(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) CTTGTGGAAAGACTTGTTTGG 0.418000 12 43 0.000151284 0.000174462 0.001855 1 0 CNNM4 26504 broad.mit.edu 37 2 97427550 97427550 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:97427550G>T ENST00000377075.2 + 1 912 c.814G>T c.(814-816)Gtg>Ttg p.V272L NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 272 DUF21. biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane p.V272L(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CCTCATGGCGGTGGCCTCCTC 0.587000 9 124 0.000274275 0.000310398 0.004482 1 0 SMTN 6525 broad.mit.edu 37 22 31484883 31484883 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:31484883C>T ENST00000333137.7 + 6 617 c.399C>T c.(397-399)taC>taT p.Y133Y SMTN_ENST00000358743.1_Silent_p.Y133Y|SMTN_ENST00000347557.2_Silent_p.Y133Y NM_001207018.1|NM_134269.2 NP_001193947.1|NP_599031.1 P53814 SMTN_HUMAN smoothelin 133 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle p.Y133Y(2)|p.Y125Y(1) breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GGAGGTTGTACAGCGGGCGTC 0.632000 OREG0026472 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 35 0 0 0.000978 0 0 PXDNL 137902 broad.mit.edu 37 8 52321066 52321066 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:52321066C>A ENST00000356297.4 - 17 3218 c.3118G>T c.(3118-3120)Gtg>Ttg p.V1040L PXDNL_ENST00000543296.1_Missense_Mutation_p.V1040L NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1040 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.V239L(1)|p.V1040L(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCTGCATTCACGTTGGGGTTG 0.522000 4 42 0.000602214 0.000676794 0.000602 1 0 NPS 594857 broad.mit.edu 37 10 129350781 129350781 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:129350781G>C ENST00000398023.1 + 3 168 c.148G>C c.(148-150)Gac>Cac p.D50H NM_001030013.1 NP_001025184.1 P0C0P6 NPS_HUMAN neuropeptide S 50 neuropeptide signaling pathway extracellular region p.D50H(1) haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 AACCAGATTGGACAGGAGCAA 0.428000 18 645 0 0 0.007413 0 0 ZDHHC11 79844 broad.mit.edu 37 5 850557 850557 + Missense_Mutation SNP G G A rs145802626 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:850557G>A ENST00000283441.8 - 1 544 c.161C>T c.(160-162)tCg>tTg p.S54L ZDHHC11_ENST00000424784.2_Missense_Mutation_p.S54L NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 54 integral to membrane acyltransferase activity|zinc ion binding p.S54L(2) haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) GAAGGTGGCCGAGGAAAGGCC 0.582000 9 48 0 0 0.004482 0 0 EGFLAM 133584 broad.mit.edu 37 5 38370435 38370435 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:38370435C>T ENST00000322350.5 + 6 929 c.583C>T c.(583-585)Cgg>Tgg p.R195W EGFLAM_ENST00000354891.3_Missense_Mutation_p.R195W NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 195 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse p.R195W(2) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) AATCCATGAGCGGATCCAGAT 0.498000 10 71 0 0 0.008291 0 0 SHISA2 387914 broad.mit.edu 37 13 26620787 26620787 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:26620787G>A ENST00000319420.3 - 2 807 c.752C>T c.(751-753)aCg>aTg p.T251M NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 251 multicellular organismal development endoplasmic reticulum membrane|integral to membrane p.T251M(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 GTGCTGCACCGTGTACCCCAC 0.577000 38 40 0 0 0.007835 0 0 GPR152 390212 broad.mit.edu 37 11 67219375 67219375 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:67219375C>A ENST00000312457.2 - 1 825 c.821G>T c.(820-822)tGg>tTg p.W274L NM_206997.1 NP_996880.1 Q8TDT2 GP152_HUMAN G protein-coupled receptor 152 274 integral to membrane|plasma membrane G-protein coupled receptor activity p.W274L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CAGGGCCTCCCAGAGCAGGTA 0.627000 31 90 6.04164e-23 1.00798e-22 0.002096 1 0 IGLV7-46 28775 broad.mit.edu 37 22 22724195 22724195 + RNA SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:22724195G>A ENST00000390295.2 + 0 125 CTCACTGACTGTGTCCCCAGG 0.517000 7 31 0 0 0.004482 0 0 OR2M5 127059 broad.mit.edu 37 1 248308564 248308564 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248308564T>A ENST00000366476.1 + 1 115 c.115T>A c.(115-117)Ttc>Atc p.F39I NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F39I(1) 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) TTCAGTGGCCTTCATGGGAAA 0.517000 100 393 0 0 0.003610 0 0 CA1 759 broad.mit.edu 37 8 86240888 86240888 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:86240888G>T ENST00000523953.1 - 9 1733 c.687C>A c.(685-687)agC>agA p.S229R CA1_ENST00000523022.1_Missense_Mutation_p.S229R|CA1_ENST00000431316.1_Missense_Mutation_p.S229R|CA1_ENST00000432364.2_Missense_Mutation_p.S229R|CA1_ENST00000542576.1_Missense_Mutation_p.S229R|CA1_ENST00000522389.1_Missense_Mutation_p.S95R|CA1_ENST00000256119.5_Missense_Mutation_p.S229R P00915 CAH1_HUMAN carbonic anhydrase I 229 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding p.S229R(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) TTGATAGAAGGCTGCGGAATT 0.388000 18 113 5.3912e-06 6.52726e-06 0.006122 1 0 ZNF415 55786 broad.mit.edu 37 19 53612346 53612346 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:53612346G>T ENST00000455735.2 - 7 1416 c.1096C>A c.(1096-1098)Cat>Aat p.H366N ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000500065.4_Missense_Mutation_p.H318N|ZNF415_ENST00000243643.4_Missense_Mutation_p.H318N|ZNF415_ENST00000601493.1_Missense_Mutation_p.H88N|ZNF415_ENST00000448501.1_Missense_Mutation_p.H366N|ZNF415_ENST00000440291.1_Missense_Mutation_p.H305N|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.H330N Q09FC8 ZN415_HUMAN zinc finger protein 415 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding p.H318N(1) breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) GTTTTCTGATGTAGTGCAAGG 0.418000 9 93 0.00448238 0.00482527 0.004482 1 0 ZNF585A 199704 broad.mit.edu 37 19 37643891 37643891 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:37643891C>A ENST00000356958.4 - 5 1168 c.910G>T c.(910-912)Ggc>Tgc p.G304C ZNF585A_ENST00000355533.2_Missense_Mutation_p.G249C|ZNF585A_ENST00000292841.5_Missense_Mutation_p.G249C|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.G249C Q6P3V2 Z585A_HUMAN zinc finger protein 585A 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G249C(1) breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAGGATTTGCCACAGTTACTG 0.428000 48 371 2.27781e-18 3.5616e-18 0.003610 1 0 TRPV2 51393 broad.mit.edu 37 17 16326837 16326837 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:16326837A>G ENST00000338560.7 + 5 1079 c.680A>G c.(679-681)tAc>tGc p.Y227C TRPV2_ENST00000577397.1_Intron NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 227 Required for interaction with SLC50A1 (By similarity). sensory perception integral to plasma membrane|melanosome calcium channel activity p.Y227C(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) GTGGTAAGCTACCTCCTGGAG 0.612000 3 37 0 0 0.004672 0 0 PABPC5 140886 broad.mit.edu 37 X 90691098 90691098 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:90691098G>A ENST00000312600.3 + 2 736 c.522G>A c.(520-522)caG>caA p.Q174Q PABPC5_ENST00000373105.1_Silent_p.Q10Q NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 174 RRM 2. cytoplasm nucleotide binding|RNA binding p.Q174Q(1) central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 ACAACCGCCAGGTGTATGTTG 0.502000 19 45 0 0 0.006122 0 0 RNF170 81790 broad.mit.edu 37 8 42725241 42725241 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:42725241G>A ENST00000319073.4 - 4 474 c.14C>T c.(13-15)cCa>cTa p.P5L RNF170_ENST00000319104.3_Silent_p.A76A|RNF170_ENST00000526349.1_5'UTR|RNF170_ENST00000527424.1_Silent_p.A76A|RNF170_ENST00000534961.1_Silent_p.A76A Q96K19 RN170_HUMAN ring finger protein 170 0 integral to membrane zinc ion binding p.A76A(1) lung(3) 3 all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) GCTGTCGAGTGGCAGCAGGTG 0.473000 6 43 0 0 0.001984 0 0 PSG9 5678 broad.mit.edu 37 19 43763022 43763022 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:43763022G>T ENST00000418820.2 - 3 794 c.696C>A c.(694-696)atC>atA p.I232I PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000270077.3_Silent_p.I325I|PSG9_ENST00000443718.3_Silent_p.I232I|PSG9_ENST00000244293.7_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 232 Ig-like C2-type 1. female pregnancy extracellular region p.I325I(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) GGACATTTAGGATGACTGGGT 0.507000 21 125 8.10497e-08 1.03962e-07 0.010504 1 0 MYH7 4625 broad.mit.edu 37 14 23900116 23900116 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:23900116G>T ENST00000355349.3 - 10 1051 c.889C>A c.(889-891)Ctg>Atg p.L297M NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 297 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.L297M(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCACCCAGCAGCTCAGGCTTT 0.488000 31 199 3.57733e-08 4.65005e-08 0.009535 1 0 TRAC 28755 broad.mit.edu 37 14 23019583 23019583 + RNA SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:23019583G>T ENST00000478163.3 + 0 401 ATCTGCTCATGACGCTGCGGC 0.542000 4 66 0.00024832 0.000282671 0.009096 1 0 NRG3 10718 broad.mit.edu 37 10 84745279 84745279 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:84745279T>C ENST00000372142.2 + 11 1692 c.1418T>C c.(1417-1419)cTg>cCg p.L473P NRG3_ENST00000404547.1_Missense_Mutation_p.L694P|NRG3_ENST00000404576.2_Missense_Mutation_p.L474P|NRG3_ENST00000372141.2_Missense_Mutation_p.L670P|NRG3_ENST00000556918.1_Missense_Mutation_p.L500P|NRG3_ENST00000537893.1_Missense_Mutation_p.L320P|NRG3_ENST00000545131.1_Missense_Mutation_p.L320P NM_001165973.1 NP_001159445.1 P56975 NRG3_HUMAN neuregulin 3 694 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.L473P(1)|p.L670P(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TTTCTCCCCCTGAGTCCCACA 0.478000 17 106 0 0 0.007413 0 0 CNBD2 140894 broad.mit.edu 37 20 34596240 34596240 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:34596240T>A ENST00000373973.3 + 9 1165 c.992T>A c.(991-993)tTt>tAt p.F331Y CNBD2_ENST00000538900.1_Missense_Mutation_p.F331Y|CNBD2_ENST00000349339.1_Missense_Mutation_p.F331Y cyclic nucleotide binding domain containing 2 p.F331Y(1) ATGGAAAGATTTAAGGAATTC 0.398000 7 264 0 0 0.001984 0 0 SLC22A13 9390 broad.mit.edu 37 3 38307398 38307398 + Missense_Mutation SNP G G C rs72542450 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:38307398G>C ENST00000311856.4 + 1 96 c.47G>C c.(46-48)cGc>cCc p.R16P SLC22A13_ENST00000450935.2_5'UTR NM_004256.3 NP_004247.2 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 16 integral to plasma membrane organic cation transmembrane transporter activity p.R16P(1) cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) GACTTTGGTCGCTTCCAGATA 0.507000 5 79 0 0 0.000602 0 0 SECISBP2L 9728 broad.mit.edu 37 15 49327723 49327723 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:49327723C>A ENST00000559471.1 - 3 599 c.336G>T c.(334-336)atG>atT p.M112I SECISBP2L_ENST00000261847.3_Missense_Mutation_p.M112I NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 112 breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 ATGGTGCTGGCATCAGCTGAT 0.453000 7 187 0.00307968 0.00332263 0.003080 1 0 NPNT 255743 broad.mit.edu 37 4 106861316 106861316 + Missense_Mutation SNP G G C rs144069851 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:106861316G>C ENST00000379987.2 + 6 806 c.590G>C c.(589-591)tGt>tCt p.C197S NPNT_ENST00000305572.8_Missense_Mutation_p.C197S|NPNT_ENST00000506666.1_Missense_Mutation_p.C227S|NPNT_ENST00000453617.2_Missense_Mutation_p.C214S|NPNT_ENST00000427316.2_Missense_Mutation_p.C227S|NPNT_ENST00000514622.1_Missense_Mutation_p.C197S NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 197 EGF-like 4; calcium-binding (Potential). cell differentiation membrane calcium ion binding p.C197S(1) kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) ATCTGCAAGTGTCATAAAGGC 0.408000 25 130 0 0 0.004656 0 0 KRT75 9119 broad.mit.edu 37 12 52818459 52818459 + Missense_Mutation SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:52818459T>G ENST00000252245.5 - 9 1718 c.1498A>C c.(1498-1500)Agc>Cgc p.S500R RP11-1020M18.10_ENST00000548135.1_RNA NM_004693.2 NP_004684.2 O95678 K2C75_HUMAN keratin 75 500 Tail. keratin filament structural molecule activity p.S500R(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) GAGTAGCCGCTGCCCCCACCG 0.632000 4 65 0 0 0.001168 0 0 ATP8B2 57198 broad.mit.edu 37 1 154317940 154317940 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:154317940T>A ENST00000368489.3 + 23 2712 c.2712T>A c.(2710-2712)ttT>ttA p.F904L NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 890 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.F904L(1) IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGTGCAAGTTTCTTTGCTATT 0.502000 OREG0013835 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 854 0 0 0.002836 0 0 NR1H4 9971 broad.mit.edu 37 12 100928738 100928738 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:100928738C>A ENST00000548884.1 + 6 1198 c.657C>A c.(655-657)acC>acA p.T219T NR1H4_ENST00000392986.3_Silent_p.T223T|NR1H4_ENST00000551379.1_Silent_p.T233T|NR1H4_ENST00000188403.7_Silent_p.T229T|NR1H4_ENST00000549996.1_Silent_p.T172T NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 233 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding p.T219T(3)|p.T233T(2) NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 CAGATCAGACCGTGAATGAAG 0.428000 30 56 3.11337e-16 4.79855e-16 0.002836 1 0 SGCD 6444 broad.mit.edu 37 5 156186354 156186354 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:156186354G>T ENST00000435422.3 + 8 1310 c.823G>T c.(823-825)Gca>Tca p.A275S SGCD_ENST00000337851.4_Missense_Mutation_p.A276S NM_001128209.1 NP_001121681.1 Q92629 SGCD_HUMAN sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 275 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma p.A276S(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCTGTCTCAGGCAGGAGCTGG 0.498000 13 100 6.31663e-08 8.13454e-08 0.003163 1 0 RYR2 6262 broad.mit.edu 37 1 237965182 237965182 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:237965182A>T ENST00000366574.2 + 98 14434 c.14117A>T c.(14116-14118)cAg>cTg p.Q4706L RYR2_ENST00000542537.1_Missense_Mutation_p.Q4690L|RYR2_ENST00000360064.6_Missense_Mutation_p.Q4712L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4706 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.Q4704L(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTGAAGTATCAGATGTGGAAA 0.398000 3 40 0 0 0.004672 0 0 ABCB1 5243 broad.mit.edu 37 7 87179872 87179872 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:87179872G>T ENST00000265724.3 - 12 1553 c.1136C>A c.(1135-1137)tCg>tAg p.S379* ABCB1_ENST00000543898.1_Nonsense_Mutation_p.S315* NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 379 G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity p.S379*(1) NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCCACTCTTCGAATAGCTGTC 0.333000 18 90 1.99824e-07 2.51659e-07 0.004990 1 0 MYLK 4638 broad.mit.edu 37 3 123456371 123456371 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:123456371G>A ENST00000360772.3 - 9 986 c.608C>T c.(607-609)cCg>cTg p.P203L MYLK_ENST00000346322.5_Missense_Mutation_p.P203L|MYLK_ENST00000360304.3_Missense_Mutation_p.P203L|MYLK_ENST00000475616.1_Missense_Mutation_p.P203L|MYLK_ENST00000359169.1_Missense_Mutation_p.P203L Q15746 MYLK_HUMAN myosin light chain kinase 203 Ig-like C2-type 2. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity p.P203L(1) NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ACGGGCACTCGGCTGCAGTGG 0.542000 7 211 0 0 0.001984 0 0 ZNF701 55762 broad.mit.edu 37 19 53086276 53086276 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:53086276G>T ENST00000540331.1 + 5 1387 c.1162G>T c.(1162-1164)Gga>Tga p.G388* ZNF701_ENST00000301093.2_Nonsense_Mutation_p.G388*|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Nonsense_Mutation_p.G322* NM_001172655.1 NP_001166126.1 Q9NV72 ZN701_HUMAN zinc finger protein 701 322 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G322*(1) endometrium(5)|kidney(1)|large_intestine(2)|lung(6) 14 OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402) AGTTCATACTGGAGAGAAACC 0.378000 4 121 0.00909568 0.00965236 0.009096 1 0 LRP5 4041 broad.mit.edu 37 11 68171004 68171004 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:68171004G>A ENST00000294304.7 + 8 1744 c.1638G>A c.(1636-1638)ccG>ccA p.P546P NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 546 Beta-propeller 2. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity p.P546P(1) autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ACAAGCTCCCGCACATTTTTG 0.607000 12 90 0 0 0.001855 0 0 ARAP2 116984 broad.mit.edu 37 4 36212324 36212324 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:36212324A>C ENST00000303965.4 - 6 1664 c.1175T>G c.(1174-1176)gTg>gGg p.V392G NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 392 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding p.V392G(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 AATATCTTCCACCTTGTCCTC 0.343000 6 218 0 0 0.001168 0 0 SLC17A8 246213 broad.mit.edu 37 12 100774686 100774686 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:100774686G>A ENST00000323346.5 + 2 622 c.309G>A c.(307-309)atG>atA p.M103I SLC17A8_ENST00000392989.3_Missense_Mutation_p.M103I NM_001145288.1|NM_139319.2 NP_001138760.1|NP_647480.1 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 8 103 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity p.M103I(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 TTGTGGAAATGGTCAACAATA 0.483000 22 149 0 0 0.003330 0 0 P4HB 5034 broad.mit.edu 37 17 79817264 79817264 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:79817264C>A ENST00000331483.4 - 2 368 c.e2-1 P4HB_ENST00000439918.2_Splice_Site|P4HB_ENST00000576390.1_Splice_Site NM_000918.3 NP_000909.2 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta polypeptide cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity p.?(1) NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1) 22 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CAAGGGGCATCTGGAAGCGGA 0.542000 21 105 1.2644e-06 1.57e-06 0.010504 1 0 B4GALNT4 338707 broad.mit.edu 37 11 373108 373108 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:373108C>A ENST00000329962.6 + 5 527 c.527C>A c.(526-528)gCg>gAg p.A176E NM_178537.4 NP_848632.2 Q76KP1 B4GN4_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 4 176 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity p.A176E(1) endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATCCACCCGGCGAGGGACGGT 0.627000 30 74 1.39806e-14 2.1145e-14 0.008361 1 0 TRHDE 29953 broad.mit.edu 37 12 72667204 72667204 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:72667204G>T ENST00000261180.4 + 1 742 c.646G>T c.(646-648)Gtc>Ttc p.V216F TRHDE-AS1_ENST00000426250.3_RNA NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 216 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.V216F(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GCAAACCCAGGTCTTAGTGGT 0.567000 11 120 2.80697e-09 3.78552e-09 0.000978 1 0 ABCC5 10057 broad.mit.edu 37 3 183682981 183682981 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:183682981G>A ENST00000334444.6 - 14 2263 c.2023C>T c.(2023-2025)Ctg>Ttg p.L675L ABCC5_ENST00000265586.6_Silent_p.L675L NM_005688.2 NP_005679.2 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 5 675 ABC transporter 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity p.L675L(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) ACCTCCGTCAGGTCGCTGCTG 0.597000 15 53 0 0 0.006122 0 0 GTSE1 51512 broad.mit.edu 37 22 46708079 46708079 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:46708079C>T ENST00000454366.1 + 5 1016 c.804C>T c.(802-804)atC>atT p.I268I NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 249 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule p.I268I(1)|p.I249I(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) GGACAAAAATCCCAGCTGAGA 0.512000 12 37 0 0 0.001368 0 0 PTCHD1 139411 broad.mit.edu 37 X 23412154 23412154 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:23412154C>A ENST00000379361.4 + 3 3379 c.2519C>A c.(2518-2520)gCc>gAc p.A840D NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 840 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity p.A735D(1)|p.A840D(1) NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CACTGCTTTGCCATTTTACCT 0.418000 8 185 0.000157383 0.000179787 0.003080 1 0 ETV1 2115 broad.mit.edu 37 7 13971169 13971169 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:13971169G>A ENST00000343495.5 - 8 1444 c.706C>T c.(706-708)Ctg>Ttg p.L236L ETV1_ENST00000403685.1_Silent_p.L236L|ETV1_ENST00000242066.5_Silent_p.L236L|ETV1_ENST00000430479.1_Silent_p.L254L|ETV1_ENST00000403527.1_Silent_p.L214L|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000405358.4_Silent_p.L268L|ETV1_ENST00000405218.2_Silent_p.L254L|ETV1_ENST00000399357.3_Silent_p.L151L|ETV1_ENST00000420159.2_Silent_p.L196L|ETV1_ENST00000405192.2_Silent_p.L254L P50549 ETV1_HUMAN ets variant 1 254 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L254L(1)|p.L214L(1) TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 TTAATCATCAGAGGAGGGGGA 0.512000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 7 67 0 0 0.003080 0 0 SH3BP4 23677 broad.mit.edu 37 2 235951690 235951690 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:235951690G>T ENST00000409212.1 + 4 2784 c.2277G>T c.(2275-2277)agG>agT p.R759S SH3BP4_ENST00000392011.2_Missense_Mutation_p.R759S|SH3BP4_ENST00000344528.4_Missense_Mutation_p.R759S Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 759 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding p.R759S(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) CCTCCGTGAGGACCCTGCTCA 0.632000 12 56 2.62699e-14 3.94861e-14 0.003163 1 0 ASPM 259266 broad.mit.edu 37 1 197072642 197072642 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:197072642G>A ENST00000367409.4 - 18 5995 c.5739C>T c.(5737-5739)gcC>gcT p.A1913A ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1913 IQ 11. mitosis cytoplasm|nucleus calmodulin binding p.A1913A(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 ACTGTTTCTGGGCCTTGGCCA 0.438000 33 170 0 0 0.002096 0 0 PCDH15 65217 broad.mit.edu 37 10 56077052 56077052 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:56077052G>A ENST00000373965.2 - 8 1249 c.855C>T c.(853-855)gcC>gcT p.A285A PCDH15_ENST00000414778.1_Silent_p.A290A|PCDH15_ENST00000395430.1_Silent_p.A285A|PCDH15_ENST00000361849.3_Silent_p.A285A|PCDH15_ENST00000373957.3_Silent_p.A263A|PCDH15_ENST00000395433.1_Silent_p.A263A|PCDH15_ENST00000395438.1_Silent_p.A285A|PCDH15_ENST00000437009.1_Silent_p.A285A|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Silent_p.A285A|PCDH15_ENST00000395442.1_Silent_p.A285A|PCDH15_ENST00000395445.1_Silent_p.A285A|PCDH15_ENST00000373955.1_Silent_p.A285A|PCDH15_ENST00000395446.1_Silent_p.A285A|PCDH15_ENST00000395432.2_Silent_p.A248A|PCDH15_ENST00000320301.6_Silent_p.A285A NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 285 Cadherin 3. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.A285A(2)|p.A290A(2) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ACTCAGGTATGGCAGCTTGAT 0.413000 HNSCC(58;0.16) 18 76 0 0 0.008871 0 0 USP29 57663 broad.mit.edu 37 19 57640419 57640419 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:57640419C>A ENST00000254181.4 + 4 830 c.376C>A c.(376-378)Ctg>Atg p.L126M USP29_ENST00000598197.1_Missense_Mutation_p.L126M NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 126 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.L126M(1) breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAGGAATATGCTGAAGGAAAT 0.348000 14 107 2.23348e-06 2.72794e-06 0.004007 1 0 DYSF 8291 broad.mit.edu 37 2 71766288 71766288 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:71766288G>T ENST00000258104.3 + 16 1676 c.1397_splice c.e16-1 p.D467_splice DYSF_ENST00000429174.2_Splice_Site_p.D467_splice|DYSF_ENST00000413539.2_Splice_Site_p.D498_splice|DYSF_ENST00000410020.3_Splice_Site_p.D499_splice|DYSF_ENST00000410041.1_Splice_Site_p.D499_splice|DYSF_ENST00000409651.1_Splice_Site_p.D499_splice|DYSF_ENST00000409366.1_Splice_Site_p.D468_splice|DYSF_ENST00000394120.2_Splice_Site_p.D468_splice|DYSF_ENST00000409762.1_Splice_Site_p.D498_splice|DYSF_ENST00000409744.1_Splice_Site_p.D468_splice|DYSF_ENST00000409582.3_Splice_Site_p.D498_splice NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 467 C2 3. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.D499Y(1)|p.D467Y(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TTGCTCTAGGGACCGCCTGAC 0.557000 9 91 6.40141e-05 7.45296e-05 0.000978 1 0 KIF1B 23095 broad.mit.edu 37 1 10342421 10342421 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:10342421G>C ENST00000377086.1 + 15 1466 c.1264G>C c.(1264-1266)Gcc>Ccc p.A422P KIF1B_ENST00000377081.1_Missense_Mutation_p.A422P|KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Intron O60333 KIF1B_HUMAN kinesin family member 1B 422 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) ATACTTGCTAGCCTCTGAGAA 0.473000 8 120 0 0 0.003080 0 0 C6orf222 389384 broad.mit.edu 37 6 36285159 36285159 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:36285159T>A ENST00000437635.2 - 12 2110 c.1933A>T c.(1933-1935)Agt>Tgt p.S645C NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 645 p.S645C(1) breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 ACCTTAGGACTTGTGATGTTC 0.423000 7 156 0 0 0.003080 0 0 POU1F1 5449 broad.mit.edu 37 3 87325585 87325585 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:87325585C>A ENST00000350375.2 - 1 152 c.28G>T c.(28-30)Gat>Tat p.D10Y POU1F1_ENST00000344265.3_Missense_Mutation_p.D10Y|POU1F1_ENST00000560656.1_Missense_Mutation_p.D10Y NM_000306.2 NP_000297.1 P28069 PIT1_HUMAN POU class 1 homeobox 1 10 negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D10Y(2) central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2) 18 all_cancers(8;0.104)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677) ATAAAGGTATCAGCCGAAGTA 0.448000 10 56 1.76689e-08 2.32473e-08 0.006214 1 0 GRIA4 2893 broad.mit.edu 37 11 105781249 105781249 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:105781249C>A ENST00000393127.2 + 10 1693 c.1247C>A c.(1246-1248)aCa>aAa p.T416K GRIA4_ENST00000525187.1_Missense_Mutation_p.T416K|GRIA4_ENST00000282499.5_Missense_Mutation_p.T416K|GRIA4_ENST00000428631.2_Missense_Mutation_p.T416K|GRIA4_ENST00000530497.1_Missense_Mutation_p.T416K|GRIA4_ENST00000393125.2_Missense_Mutation_p.T416K NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 416 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.T416K(3) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GAGAACAGAACAGTGGTTGTA 0.423000 8 53 0.000274275 0.000310398 0.004482 1 0 NAV3 89795 broad.mit.edu 37 12 78444710 78444710 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:78444710G>C ENST00000397909.2 + 11 2472 c.2299G>C c.(2299-2301)Ggt>Cgt p.G767R NAV3_ENST00000266692.7_Missense_Mutation_p.G767R|NAV3_ENST00000228327.6_Missense_Mutation_p.G767R|NAV3_ENST00000536525.2_Missense_Mutation_p.G767R Q8IVL0 NAV3_HUMAN neuron navigator 3 767 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.G767R(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 TCCTCGCAGTGGTACCAGTCG 0.592000 HNSCC(70;0.22) 12 65 0 0 0.001368 0 0 PRKCA 5578 broad.mit.edu 37 17 64684432 64684432 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:64684432T>C ENST00000413366.3 + 7 725 c.699T>C c.(697-699)ccT>ccC p.P233P NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 233 C2. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding p.P233P(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) AATTGAAACCTTCAGACAAAG 0.443000 20 137 0 0 0.010504 0 0 NALCN 259232 broad.mit.edu 37 13 101710333 101710333 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:101710333C>A ENST00000251127.6 - 43 5062 c.4981G>T c.(4981-4983)Ggg>Tgg p.G1661W NALCN-AS1_ENST00000457843.1_RNA NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1661 integral to membrane sodium channel activity|voltage-gated ion channel activity p.G1661W(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TGGGGTTTCCCTGCGTCGGCT 0.567000 19 61 8.00594e-06 9.63292e-06 0.007413 1 0 PLAT 5327 broad.mit.edu 37 8 42046539 42046539 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:42046539A>G ENST00000220809.4 - 4 422 c.166T>C c.(166-168)Tgg>Cgg p.W56R PLAT_ENST00000524009.1_Missense_Mutation_p.W56R|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000270189.6_Missense_Mutation_p.W56R|PLAT_ENST00000519510.1_Missense_Mutation_p.W56R|PLAT_ENST00000429710.2_Missense_Mutation_p.W56R|PLAT_ENST00000429089.2_Missense_Mutation_p.W56R NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 56 Fibronectin type-I. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity p.W56R(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGGCGCAGCCATGACTGATGT 0.483000 7 309 0 0 0.006214 0 0 CYTH2 9266 broad.mit.edu 37 19 48982391 48982391 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:48982391G>T ENST00000427476.1 + 12 1427 c.1127G>T c.(1126-1128)aGt>aTt p.S376I CYTH2_ENST00000452733.2_Missense_Mutation_p.S375I NM_004228.6|NM_017457.5 NP_004219.3|NP_059431.1 Q99418 CYH2_HUMAN cytohesin 2 376 PH. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding p.S376I(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GCGGCTGTGAGTGTGGACCCC 0.607000 6 175 0.00198382 0.00215952 0.001984 1 0 DIDO1 11083 broad.mit.edu 37 20 61542867 61542867 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:61542867G>A ENST00000266070.4 - 3 423 c.98C>T c.(97-99)aCt>aTt p.T33I DIDO1_ENST00000395343.1_Missense_Mutation_p.T33I|DIDO1_ENST00000370366.1_Missense_Mutation_p.T33I|DIDO1_ENST00000370371.4_Missense_Mutation_p.T33I|DIDO1_ENST00000370368.1_Missense_Mutation_p.T33I|DIDO1_ENST00000354665.4_Missense_Mutation_p.T33I|DIDO1_ENST00000266071.5_Missense_Mutation_p.T33I|DIDO1_ENST00000395335.2_Missense_Mutation_p.T33I|DIDO1_ENST00000395340.1_Missense_Mutation_p.T33I NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 33 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.T33I(2) NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTTGGCGATAGTGGTCCTTCG 0.632000 4 27 0 0 0.000602 0 0 FSCB 84075 broad.mit.edu 37 14 44974853 44974853 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:44974853C>T ENST00000340446.4 - 1 1629 c.1338G>A c.(1336-1338)atG>atA p.M446I NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 446 cilium p.M446I(1) breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) CAGGGGTCTCCATAGCTGTTG 0.493000 13 25 0 0 0.001855 0 0 CAMSAP1 157922 broad.mit.edu 37 9 138715101 138715101 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:138715101G>A ENST00000389532.4 - 11 1470 c.1406C>T c.(1405-1407)gCg>gTg p.A469V CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A480V|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A191V NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 469 cytoplasm|microtubule p.A469V(1) breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) TGGCTGGGACGCAGGCCTGAA 0.587000 9 54 0 0 0.004482 0 0 APOB 338 broad.mit.edu 37 2 21233898 21233898 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:21233898C>A ENST00000233242.1 - 26 5969 c.5842G>T c.(5842-5844)Ggc>Tgc p.G1948C NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1948 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.G1948C(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTTGTGGAGCCTTTGTAATCA 0.483000 10 309 2.74318e-10 3.84917e-10 0.006214 1 0 SLC2A10 81031 broad.mit.edu 37 20 45358027 45358027 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:45358027G>C ENST00000359271.2 + 4 1697 c.1447G>C c.(1447-1449)Gga>Cga p.G483R NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 483 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity p.G483R(1) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) CCTGCTCTACGGACTGACCGC 0.582000 11 123 0 0 0.000978 0 0 KIAA0355 9710 broad.mit.edu 37 19 34821190 34821190 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:34821190C>T ENST00000299505.6 + 7 2074 c.1201C>T c.(1201-1203)Cct>Tct p.P401S NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 401 p.P401S(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) CCAGGTTTGCCCTTCCACATG 0.527000 4 45 0 0 0.004482 0 0 KIF17 57576 broad.mit.edu 37 1 21009182 21009182 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:21009182C>A ENST00000247986.2 - 11 2737 c.2427G>T c.(2425-2427)cgG>cgT p.R809R KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.R809R|KIF17_ENST00000375044.1_Silent_p.R709R Q9P2E2 KIF17_HUMAN kinesin family member 17 809 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding p.R809R(1) NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TGCTCTTGGCCCGCACTTCCT 0.632000 33 60 1.414e-09 1.92836e-09 0.003755 1 0 WDR49 151790 broad.mit.edu 37 3 167322097 167322097 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:167322097T>C ENST00000308378.3 - 2 400 c.95A>G c.(94-96)aAt>aGt p.N32S WDR49_ENST00000453925.2_Missense_Mutation_p.N85S|WDR49_ENST00000479765.1_Missense_Mutation_p.N373S NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 32 p.N32S(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 ACCAATTAAATTGAGCCGAGA 0.393000 25 73 0 0 0.005443 0 0 KCNH7 90134 broad.mit.edu 37 2 163361078 163361078 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:163361078G>C ENST00000332142.5 - 6 1102 c.1003C>G c.(1003-1005)Ctc>Gtc p.L335V KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.L328V NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 335 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.L328V(1)|p.L335V(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTCAGAGTGAGCTGTGGAATC 0.378000 67 150 0 0 0.003610 0 0 TEX15 56154 broad.mit.edu 37 8 30695247 30695247 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:30695247T>C ENST00000256246.2 - 3 7478 c.7404A>G c.(7402-7404)acA>acG p.T2468T NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2468 p.T2468T(1) NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTGGTGAAAATGTGCCATGTA 0.383000 16 347 0 0 0.003163 0 0 EGFLAM 133584 broad.mit.edu 37 5 38445800 38445800 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:38445800C>G ENST00000354891.3 + 18 2830 c.2484C>G c.(2482-2484)ctC>ctG p.L828L EGFLAM_ENST00000322350.5_Intron|EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Intron|EGFLAM_ENST00000397210.3_5'UTR NM_001205301.1 NP_001192230.1 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 828 cell junction|proteinaceous extracellular matrix|synapse p.L828L(1) NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) ACTACTGCCTCAATAGTAAGT 0.567000 28 158 0 0 0.007291 0 0 CD84 8832 broad.mit.edu 37 1 160523869 160523869 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:160523869T>A ENST00000368054.3 - 3 491 c.456A>T c.(454-456)acA>acT p.T152T CD84_ENST00000368047.3_5'UTR|CD84_ENST00000368051.3_Silent_p.T152T|CD84_ENST00000534968.1_Silent_p.T38T|CD84_ENST00000311224.4_Silent_p.T152T|CD84_ENST00000368048.3_Silent_p.T152T|RP11-528G1.2_ENST00000446952.1_RNA NM_003874.3 NP_003865.1 Q9UIB8 SLAF5_HUMAN CD84 molecule 152 Ig-like C2-type. blood coagulation|defense response|homophilic cell adhesion|leukocyte migration integral to plasma membrane receptor activity p.T152T(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1) 24 all_cancers(52;3.62e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) AGCATGTCAGTGTGACATTAC 0.458000 11 286 0 0 0.001368 0 0 OLFML2B 25903 broad.mit.edu 37 1 161967727 161967727 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:161967727G>A ENST00000294794.3 - 6 1785 c.1362C>T c.(1360-1362)ccC>ccT p.P454P OLFML2B_ENST00000367940.2_Silent_p.P455P NM_015441.1 NP_056256.1 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B 454 p.P454P(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) TGACTGTGGTGGGAGGCACTG 0.622000 24 322 0 0 0.009535 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169153 32169153 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:32169153C>G ENST00000375023.3 - 22 4018 c.3880G>C c.(3880-3882)Ggg>Cgg p.G1294R NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1294 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity p.G1294R(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGGGAGGGCCCCCACTCTGGG 0.632000 16 46 0 0 0.001882 0 0 MATN2 4147 broad.mit.edu 37 8 98973692 98973692 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:98973692C>T ENST00000254898.5 + 5 1123 c.892C>T c.(892-894)Ccg>Tcg p.P298S MATN2_ENST00000524308.1_Missense_Mutation_p.P298S|MATN2_ENST00000522025.2_Missense_Mutation_p.P14S|MATN2_ENST00000521689.1_Missense_Mutation_p.P298S|MATN2_ENST00000520016.1_Missense_Mutation_p.P298S NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 298 EGF-like 2. proteinaceous extracellular matrix calcium ion binding p.P298S(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TGTGAATGTGCCGGGCTCCTT 0.572000 26 63 0 0 0.002096 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597009 136597009 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:136597009C>A ENST00000531224.1 - 5 1906 c.1654G>T c.(1654-1656)Gca>Tca p.A552S BCLAF1_ENST00000392348.2_Missense_Mutation_p.A550S|BCLAF1_ENST00000530767.1_Missense_Mutation_p.A379S|BCLAF1_ENST00000527759.1_Missense_Mutation_p.A550S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.A550S|BCLAF1_ENST00000527536.1_Missense_Mutation_p.A552S NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 552 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.A552S(1) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GGAACAGGTGCCATTTTGAGT 0.403000 17 281 2.94398e-08 3.84739e-08 0.007413 1 0 ZNF71 58491 broad.mit.edu 37 19 57132930 57132930 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:57132930G>T ENST00000328070.6 + 3 509 c.275G>T c.(274-276)cGg>cTg p.R92L NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 92 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R92L(1) endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GTCCCACCACGGCTGGACGAC 0.587000 22 33 9.62636e-23 1.60055e-22 0.002299 1 0 PCDHGB2 56103 broad.mit.edu 37 5 140740422 140740422 + Silent SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140740422A>C ENST00000522605.1 + 1 720 c.720A>C c.(718-720)ccA>ccC p.P240P PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 p.P240P(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAACCCTCCAGTGTTCAGCC 0.562000 20 62 0 0 0.001882 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62634766 62634766 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:62634766G>A ENST00000337910.5 - 9 2098 c.1761C>T c.(1759-1761)gcC>gcT p.A587A RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Silent_p.A587A NM_001242359.1|NM_014836.4 NP_001229288.1|NP_055651.1 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 587 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding p.A587A(1) endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) CGCCACTCGTGGCGGCTTTGG 0.512000 13 95 0 0 0.003163 0 0 NOL8 55035 broad.mit.edu 37 9 95080959 95080959 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:95080959C>G ENST00000545558.1 - 6 919 c.427G>C c.(427-429)Gtg>Ctg p.V143L NOL8_ENST00000442668.2_Missense_Mutation_p.V143L|NOL8_ENST00000358855.4_Missense_Mutation_p.V75L|NOL8_ENST00000535387.1_Missense_Mutation_p.V143L|NOL8_ENST00000542053.1_Missense_Mutation_p.V75L Q76FK4 NOL8_HUMAN nucleolar protein 8 143 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding p.V143L(2) endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 AATTTGCTCACAACCCAATTC 0.279000 3 20 0 0 0.004672 0 0 IMPG1 3617 broad.mit.edu 37 6 76751728 76751728 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:76751728G>T ENST00000369950.3 - 2 372 c.183C>A c.(181-183)ttC>ttA p.F61L IMPG1_ENST00000369963.3_Intron NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 61 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity p.F61F(1)|p.F61L(1) breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTGCCAAATCGAATATTCGTC 0.368000 54 85 2.31418e-15 3.54987e-15 0.003610 1 0 SRGAP2 23380 broad.mit.edu 37 1 206566979 206566979 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:206566979C>T ENST00000414007.1 + 3 360 c.360C>T c.(358-360)acC>acT p.T120T SRGAP2_ENST00000419187.2_5'UTR O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 260 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding p.T120T(1) NS(1)|breast(1)|kidney(1)|lung(1) 4 Breast(84;0.137) TGGAGGCAACCAATGCATCTG 0.468000 14 126 0 0 0.001855 0 0 NIT2 56954 broad.mit.edu 37 3 100058049 100058049 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:100058049G>T ENST00000394140.3 + 2 217 c.126_splice c.e2+1 p.P42_splice NM_020202.4 NP_064587.1 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 42 CN hydrolase. nitrogen compound metabolic process omega-amidase activity p.P42P(1) breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 TTTCTTTGCCGGTCAGTATGG 0.507000 17 99 9.16793e-09 1.21281e-08 0.004990 1 0 CEACAM18 729767 broad.mit.edu 37 19 51983903 51983903 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:51983903C>A ENST00000396477.4 + 2 390 c.369C>A c.(367-369)acC>acA p.T123T CEACAM18_ENST00000451626.1_Silent_p.T184T NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 184 integral to membrane p.T123T(1)|p.T184T(1) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) GCAATGAGACCCAAAGAGCAA 0.537000 22 113 0.000229342 0.000261681 0.001882 1 0 LYPD6B 130576 broad.mit.edu 37 2 150061878 150061878 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:150061878C>A ENST00000409642.3 + 4 590 c.189C>A c.(187-189)gcC>gcA p.A63A LYPD6B_ENST00000409876.1_Silent_p.A39A|LYPD6B_ENST00000409029.1_Silent_p.A39A|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000280115.7_Silent_p.A63A NM_177964.3 NP_808879.2 Q8NI32 LPD6B_HUMAN LY6/PLAUR domain containing 6B 39 UPAR/Ly6. anchored to membrane|plasma membrane p.A63A(1) endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 GGGCATTTGCCAAGAACATCA 0.512000 123 264 3.97618e-41 6.91913e-41 0.003610 1 0 HGFAC 3083 broad.mit.edu 37 4 3451122 3451122 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:3451122C>T ENST00000382774.3 + 14 2059 c.1944C>T c.(1942-1944)ccC>ccT p.P648P HGFAC_ENST00000511533.1_Silent_p.P655P NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 648 proteolysis extracellular space protein binding|serine-type endopeptidase activity p.P648P(1) central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TACGGCCTCCCAGGCGGCTTG 0.627000 5 59 0 0 0.001984 0 0 GABRG1 2565 broad.mit.edu 37 4 46067560 46067560 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:46067560G>A ENST00000295452.4 - 4 530 c.363C>T c.(361-363)gaC>gaT p.D121D NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 121 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.D121E(1)|p.D121D(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TTAAACGACTGTCAAACCAGG 0.294000 13 27 0 0 0.004990 0 0 RELT 84957 broad.mit.edu 37 11 73103419 73103419 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:73103419G>T ENST00000064780.2 + 6 792 c.531G>T c.(529-531)ctG>ctT p.L177L RELT_ENST00000393580.2_Silent_p.L177L NM_152222.1 NP_689408.1 Q969Z4 TR19L_HUMAN RELT tumor necrosis factor receptor 177 cytoplasm|integral to membrane|plasma membrane binding|receptor activity p.L177L(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 TCATGGGGCTGTTGGGCATCC 0.682000 19 60 8.10497e-08 1.03962e-07 0.010504 1 0 TEC 7006 broad.mit.edu 37 4 48158716 48158716 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:48158716T>A ENST00000381501.3 - 9 930 c.773A>T c.(772-774)gAg>gTg p.E258V NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 258 SH2. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.E258V(1) breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 GAGGAGTTGCTCTGCCTTGCT 0.353000 11 173 0 0 0.001368 0 0 SLC44A5 204962 broad.mit.edu 37 1 75681537 75681537 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:75681537G>C ENST00000370855.5 - 19 1743 c.1630C>G c.(1630-1632)Cag>Gag p.Q544E SLC44A5_ENST00000370859.3_Missense_Mutation_p.Q544E|SLC44A5_ENST00000535611.1_Missense_Mutation_p.Q414E NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 544 integral to membrane|plasma membrane choline transmembrane transporter activity p.Q544E(1) kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 AATGTGTTCTGGGTACCTATG 0.303000 8 49 0 0 0.008291 0 0 GPR156 165829 broad.mit.edu 37 3 119886498 119886498 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:119886498C>A ENST00000464295.1 - 10 2271 c.1826G>T c.(1825-1827)cGc>cTc p.R609L GPR156_ENST00000315843.3_Missense_Mutation_p.R609L|GPR156_ENST00000461057.1_Missense_Mutation_p.R605L Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 609 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity p.R609L(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) AAAGTGTGAGCGGGCCCGCTG 0.602000 30 60 1.61788e-16 2.49755e-16 0.002445 1 0 MARCH1 55016 broad.mit.edu 37 4 164534637 164534637 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:164534637C>T ENST00000339875.5 - 1 49 c.20G>A c.(19-21)tGt>tAt p.C7Y MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000503008.1_Intron NM_017923.3 NP_060393.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0 Responsible for low stability (By similarity). antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding p.C7Y(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) AAAATTACAACAAACGTGGCT 0.353000 19 31 0 0 0.008871 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552708 140552708 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140552708C>A ENST00000231137.3 + 1 466 c.292C>A c.(292-294)Ccc>Acc p.P98T NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 98 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P98T(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTGTGTGGCCCCAGAGAGCC 0.443000 10 139 1.58986e-06 1.96157e-06 0.008291 1 0 CABLES1 91768 broad.mit.edu 37 18 20716572 20716572 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:20716572G>T ENST00000256925.7 + 1 845 c.e1+1 CABLES1_ENST00000400473.2_Intron NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding p.?(1) breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) AGAGGTCCCGGTGAGTATCCG 0.692000 5 16 1.23904e-05 1.47259e-05 0.000602 1 0 ELAVL1 1994 broad.mit.edu 37 19 8038675 8038675 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:8038675C>G ENST00000407627.2 - 4 493 c.364G>C c.(364-366)Gta>Cta p.V122L ELAVL1_ENST00000351593.5_Missense_Mutation_p.V149L|ELAVL1_ENST00000596459.1_Missense_Mutation_p.V122L|ELAVL1_ENST00000593807.1_Missense_Mutation_p.V122L NM_001419.2 NP_001410.2 Q15717 ELAV1_HUMAN ELAV like RNA binding protein 1 122 RRM 2. 3'-UTR-mediated mRNA stabilization|multicellular organismal development cytoplasm|nucleoplasm identical protein binding|mRNA binding|nucleotide binding p.V122L(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 ATGTCTTCTACGTCCTTCTGG 0.592000 15 50 0 0 0.003163 0 0 NEK3 4752 broad.mit.edu 37 13 52709865 52709865 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:52709865C>A ENST00000400357.2 - 12 2551 c.1258_splice c.e12+1 p.G420_splice NEK3_ENST00000339406.3_Splice_Site_p.G437_splice|NEK3_ENST00000378101.2_Splice_Site_p.G437_splice|NEK3_ENST00000452082.2_Splice_Site_p.G441_splice P51956 NEK3_HUMAN NIMA-related kinase 3 437 cell division|mitosis nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.G437C(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2) 18 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.81e-08) CATGAATTACCTGGTCTATAT 0.353000 7 30 2.0095e-06 2.46056e-06 0.001984 1 0 HIVEP2 3097 broad.mit.edu 37 6 143091690 143091690 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:143091690C>A ENST00000367603.2 - 5 4928 c.4186G>T c.(4186-4188)Ggg>Tgg p.G1396W HIVEP2_ENST00000012134.2_Missense_Mutation_p.G1396W|HIVEP2_ENST00000367604.1_Missense_Mutation_p.G1396W NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G1396L(1) NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GCATGCTGCCCCAGCACCTGG 0.522000 12 79 5.50884e-06 6.63658e-06 0.001368 1 0 COL9A1 1297 broad.mit.edu 37 6 70961991 70961991 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:70961991C>A ENST00000357250.6 - 27 1950 c.1792G>T c.(1792-1794)Ggt>Tgt p.G598C COL9A1_ENST00000370499.4_Missense_Mutation_p.G355C|COL9A1_ENST00000320755.7_Missense_Mutation_p.G355C|COL9A1_ENST00000489611.1_5'UTR NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 598 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding p.G598C(1)|p.G355C(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CCCATCTGACCAGGCTTCCCT 0.428000 7 85 0.00307968 0.00332263 0.003080 1 0 CSMD1 64478 broad.mit.edu 37 8 2820078 2820078 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:2820078G>T ENST00000520002.1 - 62 10096 c.9541C>A c.(9541-9543)Cag>Aag p.Q3181K CSMD1_ENST00000602723.1_Missense_Mutation_p.Q3004K|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q3180K|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q3181K|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q3003K|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q3004K Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3181 Sushi 26. integral to membrane p.Q2909K(1)|p.Q3180K(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GATTTGCACTGGAAGAAGACT 0.502000 12 57 2.68362e-12 3.91849e-12 0.001368 1 0 PCDHA6 56142 broad.mit.edu 37 5 140207847 140207847 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140207847G>T ENST00000529310.1 + 1 285 c.171G>T c.(169-171)gcG>gcT p.A57A PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.A57A|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.A57A(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGCTGGCGGAGCTGGTGC 0.622000 10 105 2.27111e-07 2.84916e-07 0.001368 1 0 AKR1B15 441282 broad.mit.edu 37 7 134252977 134252977 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:134252977G>C ENST00000457545.2 + 4 478 c.218G>C c.(217-219)tGt>tCt p.C73S AKR1B15_ENST00000423958.1_Missense_Mutation_p.C45S NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 73 oxidoreductase activity p.C45S(2)|p.C73S(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 CACATTGACTGTGCCTATTTC 0.473000 11 116 0 0 0.000978 0 0 CEBPE 1053 broad.mit.edu 37 14 23586879 23586879 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:23586879G>T ENST00000206513.5 - 2 1187 c.663C>A c.(661-663)agC>agA p.S221R NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 221 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S221R(1) large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) CCTTGTCTCGGCTCTTGCGCA 0.627000 14 69 4.93089e-13 7.33215e-13 0.002450 1 0 PCDH17 27253 broad.mit.edu 37 13 58207531 58207531 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:58207531G>T ENST00000377918.3 + 1 877 c.851G>T c.(850-852)aGc>aTc p.S284I NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 284 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.S284I(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TCTTTCAGCAGCTACGTGCCT 0.582000 8 58 0.000157383 0.000179787 0.003080 1 0 SCARA3 51435 broad.mit.edu 37 8 27517030 27517030 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:27517030T>C ENST00000301904.3 + 5 1363 c.1343T>C c.(1342-1344)aTc>aCc p.I448T SCARA3_ENST00000337221.4_Missense_Mutation_p.I448T NM_016240.2 NP_057324.2 Q6AZY7 SCAR3_HUMAN scavenger receptor class A, member 3 448 response to oxidative stress|UV protection collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane scavenger receptor activity p.I448T(1) breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 9 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148) CATGGAGAAATCCTTCGCAAT 0.557000 8 18 0 0 0.006214 0 0 TVP23C 201158 broad.mit.edu 37 17 15406280 15406280 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:15406280G>A ENST00000225576.3 - 6 824 c.729C>T c.(727-729)ctC>ctT p.L243L TVP23C_ENST00000519970.1_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron NM_145301.2 NP_660344.2 trans-golgi network vesicle protein 23 homolog C (S. cerevisiae) p.L243L(1) GCCGCAAGGAGAGAAATAGGC 0.592000 3 30 0 0 0.004672 0 0 ZFP42 132625 broad.mit.edu 37 4 188924650 188924650 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:188924650C>T ENST00000326866.4 + 4 1097 c.689C>T c.(688-690)tCa>tTa p.S230L ZFP42_ENST00000509524.1_Missense_Mutation_p.S230L NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 230 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S230L(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GTTGAGAGCTCAAAACTAAAG 0.493000 6 78 0 0 0.001984 0 0 SLC30A2 7780 broad.mit.edu 37 1 26371545 26371545 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:26371545G>A ENST00000374278.3 - 2 430 c.214C>T c.(214-216)Cgc>Tgc p.R72C SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.R72C NM_032513.3 NP_115902.1 Q9BRI3 ZNT2_HUMAN solute carrier family 30 (zinc transporter), member 2 72 positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity p.R72C(1) cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) TACAGCTGGCGCTGGGCCTTC 0.532000 8 231 0 0 0.004482 0 0 PCDH10 57575 broad.mit.edu 37 4 134072783 134072783 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:134072783C>A ENST00000264360.4 + 1 2314 c.1488C>A c.(1486-1488)gcC>gcA p.A496A NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 496 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A496A(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GCGCCAACGCCCAGCTTGCCT 0.587000 11 61 5.16669e-11 7.36689e-11 0.000978 1 0 IGKV3D-11 28876 broad.mit.edu 37 2 90212103 90212103 + RNA SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:90212103G>T ENST00000390277.2 + 0 292 AGGCTCCCAGGCTCCTCATCT 0.592000 25 64 1.42536e-11 2.06262e-11 0.004656 1 0 RASIP1 54922 broad.mit.edu 37 19 49224084 49224084 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:49224084G>A ENST00000222145.4 - 12 3067 c.2863C>T c.(2863-2865)Cat>Tat p.H955Y NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 955 signal transduction Golgi stack|perinuclear region of cytoplasm p.H955Y(2) central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) GGAGGCCCATGGCGATAATTG 0.617000 29 226 0 0 0.002836 0 0 FSCN3 29999 broad.mit.edu 37 7 127236391 127236391 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:127236391T>A ENST00000265825.5 + 3 1070 c.851T>A c.(850-852)gTg>gAg p.V284E FSCN3_ENST00000420086.2_Missense_Mutation_p.V150E NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 284 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging p.V284E(1) endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GATGGTGAGGTGCGTGCTGCT 0.552000 32 235 0 0 0.009535 0 0 MALAT1 378938 broad.mit.edu 37 11 65266460 65266460 + RNA SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:65266460T>C ENST00000534336.1 + 0 1228 NR_002819.2 GTGATCGAATTCCGGTGATGC 0.502000 22 180 0 0 0.003954 0 0 FAM57B 83723 broad.mit.edu 37 16 30041747 30041747 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:30041747G>A ENST00000380495.4 - 1 833 c.102C>T c.(100-102)gcC>gcT p.A34A NM_031478.4 NP_113666.2 Q71RH2 FA57B_HUMAN family with sequence similarity 57, member B 34 TLC. endoplasmic reticulum|integral to membrane p.A34A(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 TGACTGCGTCGGCCTCCTCCC 0.622000 5 37 0 0 0.000602 0 0 PRG4 10216 broad.mit.edu 37 1 186270816 186270816 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:186270816C>G ENST00000445192.2 + 4 337 c.292C>G c.(292-294)Ccc>Gcc p.P98A PRG4_ENST00000367486.3_Missense_Mutation_p.P98A|PRG4_ENST00000367483.4_Missense_Mutation_p.P57A|PRG4_ENST00000367484.3_Missense_Mutation_p.P57A|PRG4_ENST00000367485.4_Missense_Mutation_p.P98A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 98 SMB 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.P98A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CAAGTGCTGTCCCGATTATGA 0.493000 19 96 0 0 0.007413 0 0 DPYS 1807 broad.mit.edu 37 8 105456612 105456612 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:105456612C>G ENST00000351513.2 - 4 789 c.657G>C c.(655-657)ctG>ctC p.L219L NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 219 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding p.L219L(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTGGGCGGCACAGCTCGTGGC 0.532000 7 47 0 0 0.004482 0 0 SMG1 23049 broad.mit.edu 37 16 18882704 18882704 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:18882704T>C ENST00000446231.2 - 16 2696 c.2284A>G c.(2284-2286)Aaa>Gaa p.K762E SMG1_ENST00000389467.3_Missense_Mutation_p.K762E Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 762 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K758E(1)|p.K762E(1) NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 AAAAGGCCTTTGCAAAATTTA 0.348000 10 19 0 0 0.008291 0 0 FKBP8 23770 broad.mit.edu 37 19 18649233 18649233 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:18649233T>C ENST00000597960.2 - 5 685 c.565A>G c.(565-567)Atc>Gtc p.I189V FKBP8_ENST00000544835.2_Intron|FKBP8_ENST00000453489.2_Missense_Mutation_p.I217V|FKBP8_ENST00000222308.3_Missense_Mutation_p.I189V|FKBP8_ENST00000596558.1_Missense_Mutation_p.I188V Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa 188 PPIase FKBP-type. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding p.I189V(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 TGCGGGGGGATGTATGGGCTC 0.677000 4 24 0 0 0.000602 0 0 OR5D18 219438 broad.mit.edu 37 11 55587852 55587852 + Silent SNP C C T rs148575844 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55587852C>T ENST00000333976.4 + 1 767 c.747C>T c.(745-747)atC>atT p.I249I NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I249I(1) NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TGACTGCCATCACCATCTTCC 0.517000 24 88 0 0 0.002299 0 0 PLCXD1 55344 broad.mit.edu 37 X 215875 215875 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:215875C>T ENST00000381657.2 + 7 1359 c.845C>T c.(844-846)gCg>gTg p.A282V PLCXD1_ENST00000399012.1_Missense_Mutation_p.A282V|PLCXD1_ENST00000381663.3_Missense_Mutation_p.A282V NM_018390.3 NP_060860.1 Q9NUJ7 PLCX1_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 1 282 intracellular signal transduction|lipid metabolic process phospholipase C activity p.A282V(1) endometrium(3)|large_intestine(1)|lung(7) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGGCTGAGCGCGTGGGTCCGA 0.662000 16 22 0 0 0.007413 0 0 CNTFR 1271 broad.mit.edu 37 9 34564690 34564690 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:34564690G>T ENST00000378980.3 - 4 519 c.226C>A c.(226-228)Ctc>Atc p.L76I CNTFR_ENST00000351266.4_Missense_Mutation_p.L76I NM_001207011.1|NM_147164.2 NP_001193940.1|NP_671693.1 P26992 CNTFR_HUMAN ciliary neurotrophic factor receptor 76 Ig-like C2-type. nervous system development anchored to membrane|extrinsic to membrane|plasma membrane ciliary neurotrophic factor receptor activity|receptor binding p.L76I(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1) 15 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.00494) AGGCCATGGAGCACCAGCTGA 0.627000 10 46 7.48243e-07 9.32662e-07 0.006214 1 0 POTEM 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20010235A>G ENST00000551509.1 - 5 974 c.923T>C c.(922-924)gTt>gCt p.V308A RP11-244H18.1_ENST00000547584.1_lincRNA NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 308 endometrium(4)|kidney(1)|lung(4) 9 AAGTATGAGAACAGTTCTAAA 0.368000 3 116 0 0 0.004672 0 0 IRF6 3664 broad.mit.edu 37 1 209974608 209974608 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:209974608C>T ENST00000367021.3 - 3 323 c.151G>A c.(151-153)Gaa>Aaa p.E51K IRF6_ENST00000542854.1_Intron NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 51 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.E51K(1) cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TTTTCCTCTTCTTGTTGAGGG 0.438000 HNSCC(57;0.16) 9 204 0 0 0.000978 0 0 BRPF1 7862 broad.mit.edu 37 3 9788023 9788023 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:9788023C>T ENST00000383829.2 + 13 3768 c.3364C>T c.(3364-3366)Cat>Tat p.H1122Y BRPF1_ENST00000302054.3_Missense_Mutation_p.H1116Y|BRPF1_ENST00000433861.2_Missense_Mutation_p.H1021Y|BRPF1_ENST00000424362.1_Missense_Mutation_p.H1115Y|BRPF1_ENST00000457855.1_Missense_Mutation_p.H1116Y NM_001003694.1 NP_001003694.1 P55201 BRPF1_HUMAN bromodomain and PHD finger containing, 1 1116 PWWP. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding p.H1122Y(1) central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 Medulloblastoma(99;0.227) TATGTTCCACCATGGGGTTCC 0.527000 33 116 0 0 0.003755 0 0 CSMD1 64478 broad.mit.edu 37 8 3008972 3008972 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:3008972G>T ENST00000520002.1 - 41 6536 c.5981C>A c.(5980-5982)tCt>tAt p.S1994Y CSMD1_ENST00000602723.1_Missense_Mutation_p.S1994Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1993Y|CSMD1_ENST00000539096.1_Missense_Mutation_p.S1993Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1994Y|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1993Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1994Y Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1994 CUB 12. integral to membrane p.S1722Y(1)|p.S1993Y(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTTGGGGTAAGAACCTGGGAA 0.488000 9 40 2.17888e-05 2.58011e-05 0.006214 1 0 OR4K1 79544 broad.mit.edu 37 14 20403987 20403987 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20403987T>C ENST00000285600.4 + 1 221 c.162T>C c.(160-162)caT>caC p.H54H NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H54H(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TTGACTCCCATTTGAACTCTC 0.363000 34 428 0 0 0.002836 0 0 TRBV6-5 28602 broad.mit.edu 37 7 142180730 142180730 + RNA SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:142180730G>T ENST00000390368.2 - 0 194 TCATATCCTGGGCACACTGCA 0.507000 19 409 2.70639e-06 3.29725e-06 0.002299 1 0 OR2L3 391192 broad.mit.edu 37 1 248224139 248224139 + Silent SNP C C T rs113796306 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248224139C>T ENST00000359959.3 + 1 156 c.156C>T c.(154-156)acC>acT p.T52T OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T52T(1) cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 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;0.0278) TCTTGGACACCCATCTCCACA 0.403000 44 704 0 0 0.003610 0 0 CCDC65 85478 broad.mit.edu 37 12 49315195 49315195 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:49315195A>T ENST00000266984.5 + 8 1651 c.1424A>T c.(1423-1425)cAt>cTt p.H475L CCDC65_ENST00000320516.4_Missense_Mutation_p.H475L|ARF3_ENST00000398092.4_Intron Q8IXS2 CCD65_HUMAN coiled-coil domain containing 65 475 p.H475I(1) breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 15 CGTATAGCCCATCCAGGTGAT 0.428000 12 189 0 0 0.001855 0 0 OR10Q1 219960 broad.mit.edu 37 11 57996204 57996204 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:57996204G>T ENST00000316770.2 - 1 186 c.144C>A c.(142-144)gcC>gcA p.A48A NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A48A(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) CCCAGATGATGGCTGTGTTGC 0.527000 18 114 2.4624e-09 3.32543e-09 0.008871 1 0 TTN 7273 broad.mit.edu 37 2 179579781 179579781 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179579781C>T ENST00000589042.1 - 90 26356 c.26132G>A c.(26131-26133)gGg>gAg p.G8711E TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7467E|TTN_ENST00000591111.1_Missense_Mutation_p.G8394E|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8394 Ig-like 70. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G7467E(1) 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) CTGATATTCCCCAATGTCTGC 0.448000 5 294 0 0 0.000602 0 0 ZNF614 80110 broad.mit.edu 37 19 52520455 52520455 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:52520455C>A ENST00000270649.6 - 5 940 c.396G>T c.(394-396)ttG>ttT p.L132F ZNF614_ENST00000356322.6_Missense_Mutation_p.L132F NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.L132F(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TTTTTCTGTACAAGTCAAATG 0.338000 10 81 0.000442599 0.000499726 0.006214 1 0 NDUFA4 4697 broad.mit.edu 37 7 10978447 10978447 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:10978447T>A ENST00000339600.5 - 2 317 c.119A>T c.(118-120)aAt>aTt p.N40I NM_002489.3 NP_002480.1 O00483 NDUA4_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa 40 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.N40I(1) large_intestine(2)|lung(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) NADH(DB00157) AACATCTGGATTGAACAATGC 0.393000 3 68 0 0 0.004672 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19685299 19685299 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:19685299G>T ENST00000284885.3 - 18 2161 c.2128C>A c.(2128-2130)Cag>Aag p.Q710K NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 710 SRCR. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity p.Q710K(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TTTGAAATCTGGGTGGTCCAG 0.383000 23 60 9.57634e-11 1.35746e-10 0.003330 1 0 CSMD1 64478 broad.mit.edu 37 8 3205575 3205575 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:3205575G>T ENST00000520002.1 - 23 3971 c.3416C>A c.(3415-3417)gCc>gAc p.A1139D CSMD1_ENST00000602723.1_Missense_Mutation_p.A1139D|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1138D|CSMD1_ENST00000539096.1_Missense_Mutation_p.A1138D|CSMD1_ENST00000602557.1_Missense_Mutation_p.A1139D|CSMD1_ENST00000542608.1_Missense_Mutation_p.A1138D|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1139D Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1139 CUB 7. integral to membrane p.A867V(1)|p.A867D(1)|p.A1138D(1)|p.A1138V(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCCCTTGCCGGCTTCTGTTTC 0.383000 3 22 0.004672 0.00501827 0.004672 1 0 IGSF3 3321 broad.mit.edu 37 1 117120124 117120124 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:117120124T>A ENST00000369486.3 - 11 4160 c.3395A>T c.(3394-3396)tAc>tTc p.Y1132F IGSF3_ENST00000369483.1_Missense_Mutation_p.Y1152F|IGSF3_ENST00000318837.6_Missense_Mutation_p.Y1152F NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 1132 integral to membrane p.Y1132F(1)|p.Y1152F(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GGGGAAAGGGTAGAAGAAGAC 0.498000 14 79 0 0 0.003163 0 0 SLC44A5 204962 broad.mit.edu 37 1 75693506 75693506 + Missense_Mutation SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:75693506T>G ENST00000370855.5 - 13 1003 c.890A>C c.(889-891)cAg>cCg p.Q297P SLC44A5_ENST00000370859.3_Missense_Mutation_p.Q297P|SLC44A5_ENST00000535611.1_Missense_Mutation_p.Q167P NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 297 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 TGGGCGTTCCTGAAGATTGGT 0.348000 6 53 0 0 0.001168 0 0 OR9K2 441639 broad.mit.edu 37 12 55524459 55524459 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:55524459C>T ENST00000305377.5 + 1 995 c.907C>T c.(907-909)Cta>Tta p.L303L NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L303L(1) NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 ATGTTACTCCCTAGTCACTCC 0.393000 45 132 0 0 0.003610 0 0 AK7 122481 broad.mit.edu 37 14 96922763 96922763 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:96922763T>C ENST00000267584.4 + 11 1222 c.1178T>C c.(1177-1179)cTg>cCg p.L393P NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 393 Adenylate kinase. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity p.L393P(1) breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TACTACAAACTGCATCACATC 0.393000 17 114 0 0 0.004990 0 0 TINAG 27283 broad.mit.edu 37 6 54185441 54185441 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:54185441G>T ENST00000259782.4 + 2 515 c.e2+1 TINAG_ENST00000486436.1_Splice_Site|TINAG_ENST00000370864.3_Splice_Site|TINAG_ENST00000370869.3_Splice_Site NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity p.?(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) GCAACTCCTGGTAATAAATTT 0.308000 29 54 2.81731e-10 3.9418e-10 0.002096 1 0 KRTAP15-1 254950 broad.mit.edu 37 21 31813044 31813044 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:31813044G>T ENST00000334067.3 + 1 448 c.399G>T c.(397-399)caG>caT p.Q133H NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 133 intermediate filament p.Q133H(1) kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 GGAATTTCCAGGCAACTTGTT 0.458000 34 88 9.8876e-21 1.59748e-20 0.004878 1 0 FCGBP 8857 broad.mit.edu 37 19 40424077 40424077 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:40424077C>T ENST00000221347.6 - 4 2133 c.2126G>A c.(2125-2127)gGg>gAg p.G709E NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 709 extracellular region protein binding p.G709E(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GAGCCGCTCCCCACCGACCAC 0.632000 17 146 0 0 0.010504 0 0 PADI6 353238 broad.mit.edu 37 1 17714922 17714922 + RNA SNP C C G rs113151411 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:17714922C>G ENST00000434762.2 + 0 776 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity p.H242Q(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CCGACCAGCACGCCTATACCT 0.537000 4 30 0 0 0.000602 0 0 PLAT 5327 broad.mit.edu 37 8 42044933 42044933 + Silent SNP C C T rs115361478 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:42044933C>T ENST00000220809.4 - 6 778 c.522G>A c.(520-522)ggG>ggA p.G174G PLAT_ENST00000524009.1_Intron|PLAT_ENST00000352041.3_Silent_p.G128G|PLAT_ENST00000270189.6_Silent_p.G174G|PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Silent_p.G174G NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 174 Kringle 1. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity p.G174G(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) AGTTGTGGTTCCCCAGGCCCA 0.627000 5 33 0 0 0.003080 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149216497 149216497 + Missense_Mutation SNP G G A rs45628534 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:149216497G>A ENST00000309241.5 + 8 2511 c.2479G>A c.(2479-2481)Gtc>Atc p.V827I PPARGC1B_ENST00000360453.4_Missense_Mutation_p.V788I|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.V827I|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.V763I NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 827 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity p.V827I(1) NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) ggaCTCAGGGGTCAGCCCCAC 0.627000 5 99 0 0 0.000602 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5190192 5190192 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:5190192C>A ENST00000274181.7 + 7 1294 c.1156C>A c.(1156-1158)Ctg>Atg p.L386M ADAMTS16_ENST00000511368.1_Missense_Mutation_p.L386M NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 386 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L386M(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 CGCCATCTTACTGACTGGTCT 0.527000 17 88 0.00498961 0.00535349 0.004990 1 0 PLA2R1 22925 broad.mit.edu 37 2 160862202 160862202 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:160862202C>A ENST00000283243.7 - 11 2001 c.1795G>T c.(1795-1797)Gag>Tag p.E599* PLA2R1_ENST00000392771.1_Nonsense_Mutation_p.E599* NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 599 C-type lectin 3. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding p.E599*(1) PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 TGCACCGGCTCGGGTTTCTGC 0.483000 20 37 6.70999e-13 9.91689e-13 0.004289 1 0 GABRG3 2567 broad.mit.edu 37 15 27777780 27777780 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:27777780C>T ENST00000333743.6 + 10 1411 c.1157C>T c.(1156-1158)aCt>aTt p.T386I RP11-100M12.3_ENST00000556642.1_RNA NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 386 T -> P (in Ref. 1; AAB39369). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.T386I(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) CCACCACCAACTGCGATGATC 0.428000 7 32 0 0 0.001984 0 0 UBA6 55236 broad.mit.edu 37 4 68499973 68499973 + Missense_Mutation SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:68499973T>G ENST00000322244.4 - 22 2059 c.2000A>C c.(1999-2001)gAa>gCa p.E667A NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 667 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding p.E667A(1) central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 TAAGACTTCTTCTGCAGATGA 0.279000 14 43 0 0 0.003163 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125284984 125284984 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:125284984C>A ENST00000431078.1 + 10 1961 c.1597C>A c.(1597-1599)Ctg>Atg p.L533M NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding p.L533M(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GCAAGGTTCCCTGGGGAATTT 0.428000 41 76 1.62957e-23 2.73757e-23 0.008740 1 0 ZNF732 654254 broad.mit.edu 37 4 265785 265785 + Silent SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:265785A>T ENST00000419098.1 - 4 871 c.861T>A c.(859-861)atT>atA p.I287I NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I259I(1)|p.I287I(1) endometrium(1)|lung(2) 3 AGGATGAGGTAATGATTTTGC 0.393000 3 32 0 0 0.004672 0 0 ZFP14 57677 broad.mit.edu 37 19 36831785 36831785 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:36831785T>C ENST00000270001.7 - 5 1058 c.943A>G c.(943-945)Aag>Gag p.K315E NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K315E(1) NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) CCACATTCCTTACATTCATAG 0.423000 10 152 0 0 0.001368 0 0 SORL1 6653 broad.mit.edu 37 11 121429397 121429397 + Nonsense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:121429397A>T ENST00000260197.7 + 20 2890 c.2761A>T c.(2761-2763)Aag>Tag p.K921* NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 921 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity p.K921*(1) NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGAGGATGTGAAGTGGCCCAA 0.547000 6 245 0 0 0.003080 0 0 ALG1 56052 broad.mit.edu 37 16 5129756 5129756 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:5129756A>G ENST00000588623.1 + 10 1676 c.576A>G c.(574-576)gaA>gaG p.E192E ALG1_ENST00000262374.5_Silent_p.E303E|ALG1_ENST00000544428.1_Silent_p.E192E Q9BT22 ALG1_HUMAN ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase 303 dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity p.E303E(3) breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Ovarian(90;0.0164) CAGAGTTTGAACAACTGACTC 0.443000 3 138 0 0 0.001984 0 0 VIM 7431 broad.mit.edu 37 10 17275676 17275676 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:17275676G>A ENST00000544301.1 + 4 1128 c.715G>A c.(715-717)Gaa>Aaa p.E239K VIM_ENST00000224237.5_Missense_Mutation_p.E239K|RP11-124N14.3_ENST00000456355.1_RNA NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 239 Coil 1B.|Rod. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton p.E239K(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GAAACTCCACGAAGAGGTTAG 0.473000 13 70 0 0 0.001368 0 0 ITPRIPL1 150771 broad.mit.edu 37 2 96993504 96993504 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:96993504C>T ENST00000361124.4 + 1 1570 c.1159C>T c.(1159-1161)Ctg>Ttg p.L387L ITPRIPL1_ENST00000542887.1_Silent_p.L371L|ITPRIPL1_ENST00000439118.2_Silent_p.L379L|ITPRIPL1_ENST00000536814.1_Silent_p.L371L NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 379 integral to membrane p.L387L(1) breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTTGGTCTACCTGGTGAGTCA 0.597000 14 112 0 0 0.004007 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503432 140503432 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140503432G>C ENST00000194152.1 + 1 1852 c.1852G>C c.(1852-1854)Gcg>Ccg p.A618P NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 618 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.A618P(1) autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGCGTGTGGGCGCACAATGG 0.687000 11 75 0 0 0.001368 0 0 ANO7 50636 broad.mit.edu 37 2 242142826 242142826 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:242142826C>A ENST00000274979.8 + 9 1067 c.964C>A c.(964-966)Cgc>Agc p.R322S ANO7_ENST00000402430.3_Missense_Mutation_p.R321S NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 322 cell junction|chloride channel complex|cytosol chloride channel activity p.R322S(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 GCACTGGGCGCGCTGGGGCAA 0.687000 8 6 0.000274275 0.000310398 0.004482 1 0 F5 2153 broad.mit.edu 37 1 169515796 169515796 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:169515796G>A ENST00000367796.3 - 11 1847 c.1646C>T c.(1645-1647)gCt>gTt p.A549V F5_ENST00000546081.1_3'UTR|F5_ENST00000367797.3_Missense_Mutation_p.A549V P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 549 F5/8 type A 2.|Plastocyanin-like 4. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity p.A549V(1) NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ATCAAACACAGCAAACACAGC 0.433000 14 176 0 0 0.003163 0 0 GJB4 127534 broad.mit.edu 37 1 35227242 35227242 + Nonsense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:35227242G>A ENST00000339480.1 + 2 757 c.387G>A c.(385-387)tgG>tgA p.W129* RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 129 cell communication connexon complex|integral to membrane gap junction channel activity p.W129*(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GACTGTGGTGGACGTACTTGC 0.607000 20 48 0 0 0.010504 0 0 TPTE 7179 broad.mit.edu 37 21 10920156 10920156 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:10920156C>A ENST00000298232.7 - 18 1411 c.1044G>T c.(1042-1044)ctG>ctT p.L348L TPTE_ENST00000361285.4_Silent_p.L366L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.L328L NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 366 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.L366L(2)|p.L348L(2) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CAAAATAATACAGGCTTTCCT 0.383000 6 94 0.00116845 0.00129221 0.001168 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54925124 54925124 + Nonsense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:54925124C>T ENST00000293373.6 + 23 2666 c.2587C>T c.(2587-2589)Cag>Tag p.Q863* NCKAP1L_ENST00000545638.2_Nonsense_Mutation_p.Q813* NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 863 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity p.Q863*(1) NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TGTGACCTCTCAGATTGTGGA 0.512000 8 291 0 0 0.003080 0 0 TBC1D21 161514 broad.mit.edu 37 15 74178875 74178875 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:74178875G>T ENST00000300504.2 + 8 782 c.699G>T c.(697-699)gtG>gtT p.V233V TBC1D21_ENST00000535547.2_Silent_p.V197V|TBC1D21_ENST00000562056.1_Silent_p.V196V NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 233 Rab-GAP TBC. intracellular Rab GTPase activator activity p.V233V(1) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 CAGGGGCTGTGCAGTCCCTCT 0.562000 7 42 0.000157383 0.000179787 0.003080 1 0 SLC26A3 1811 broad.mit.edu 37 7 107431513 107431513 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:107431513C>A ENST00000340010.5 - 5 734 c.550G>T c.(550-552)Gtg>Ttg p.V184L SLC26A3_ENST00000422236.2_Missense_Mutation_p.V149L NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 184 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.V184L(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 CCAGAAAGCACTGTGACTGAT 0.488000 5 41 0.00116845 0.00129221 0.001168 1 0 MYH13 8735 broad.mit.edu 37 17 10243518 10243518 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:10243518T>A ENST00000418404.3 - 17 2168 c.2005A>T c.(2005-2007)Acc>Tcc p.T669S RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.T669S|MYH13_ENST00000570743.1_Missense_Mutation_p.T669S Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 669 Actin-binding (By similarity).|Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.T669S(2) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TGAGGGTGGGTGCTCCTTAAG 0.433000 8 29 0 0 0.003080 0 0 GPAA1 8733 broad.mit.edu 37 8 145138042 145138042 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:145138042G>T ENST00000355091.4 + 2 211 c.90G>T c.(88-90)gtG>gtT p.V30V GPAA1_ENST00000361036.6_Intron NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 30 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding p.V30V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGAGCTACGTGGCGGGCATCG 0.672000 4 31 2.56e-06 3.12281e-06 0.009096 1 0 ZNF737 100129842 broad.mit.edu 37 19 20736525 20736525 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:20736525C>A ENST00000427401.4 - 2 214 c.120G>T c.(118-120)ctG>ctT p.L40L ZNF737_ENST00000596797.1_Silent_p.L40L NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 40 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.L39L(1) breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 CAAGGAAGACCAGGTTTCTGT 0.348000 13 74 9.31168e-06 1.11488e-05 0.001855 1 0 HUWE1 10075 broad.mit.edu 37 X 53675171 53675171 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:53675171G>A ENST00000342160.3 - 4 585 c.128C>T c.(127-129)aCa>aTa p.T43I HUWE1_ENST00000262854.6_Missense_Mutation_p.T43I|HUWE1_ENST00000218328.8_Missense_Mutation_p.T43I Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 43 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity p.T43I(2) NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 AATGTTCCATGTTTTGATCTG 0.388000 30 19 0 0 0.008361 0 0 RGPD3 653489 broad.mit.edu 37 2 107032375 107032375 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:107032375A>C ENST00000409886.3 - 21 5082 c.4995T>G c.(4993-4995)agT>agG p.S1665R RGPD3_ENST00000304514.7_Missense_Mutation_p.S1665R NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1665 intracellular transport binding p.S1665R(2) breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 AGTGATCTGCACTTTTTGTGG 0.403000 33 210 0 0 0.004878 0 0 CSMD3 114788 broad.mit.edu 37 8 113516125 113516125 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:113516125T>C ENST00000297405.5 - 30 5221 c.4977A>G c.(4975-4977)caA>caG p.Q1659Q CSMD3_ENST00000343508.3_Silent_p.Q1619Q|CSMD3_ENST00000352409.3_Silent_p.Q1659Q|CSMD3_ENST00000455883.2_Silent_p.Q1555Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1659 CUB 9. integral to membrane|plasma membrane p.Q1619Q(1)|p.Q1659Q(1) 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 ACTTGCTGTCTTGAAAACTTC 0.368000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 85 0 0 0.005443 0 0 TAB1 10454 broad.mit.edu 37 22 39822870 39822870 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:39822870G>T ENST00000216160.6 + 9 1146 c.1084G>T c.(1084-1086)Gtg>Ttg p.V362L TAB1_ENST00000331454.3_Missense_Mutation_p.V362L NM_006116.2 NP_006107.1 Q15750 TAB1_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 1 362 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding p.V362L(1) breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 GACCCTGCTAGTGAGGAACTT 0.662000 4 107 1.024e-07 1.30829e-07 0.000602 1 0 LRRFIP1 9208 broad.mit.edu 37 2 238672084 238672084 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:238672084C>T ENST00000244815.5 + 10 1896 c.1656C>T c.(1654-1656)aaC>aaT p.N552N LRRFIP1_ENST00000289175.6_Silent_p.N520N|LRRFIP1_ENST00000392000.4_Silent_p.N576N|LRRFIP1_ENST00000308482.9_Intron NM_004735.3 NP_004726.2 Q32MZ4 LRRF1_HUMAN leucine rich repeat (in FLII) interacting protein 1 576 DNA-binding. negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|cytoskeleton|nucleus DNA binding|double-stranded RNA binding|protein binding p.N552N(1)|p.N576N(1) NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 29 Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228) aaaagaaaaacaagaagaaaa 0.378000 12 76 0 0 0.001368 0 0 EPB41L3 23136 broad.mit.edu 37 18 5397266 5397266 + Missense_Mutation SNP C C A rs140662824 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:5397266C>A ENST00000341928.2 - 18 2972 c.2632G>T c.(2632-2634)Ggg>Tgg p.G878W EPB41L3_ENST00000400111.3_Missense_Mutation_p.G656W|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.G183W|EPB41L3_ENST00000427684.2_Missense_Mutation_p.G175W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G709W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G656W|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G878W NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 878 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity p.G878W(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 GCAGCATCCCCGCTGTCTCCC 0.617000 16 80 1.67942e-08 2.21564e-08 0.006122 1 0 CCDC65 85478 broad.mit.edu 37 12 49315194 49315194 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:49315194C>A ENST00000266984.5 + 8 1650 c.1423C>A c.(1423-1425)Cat>Aat p.H475N CCDC65_ENST00000320516.4_Missense_Mutation_p.H475N|ARF3_ENST00000398092.4_Intron Q8IXS2 CCD65_HUMAN coiled-coil domain containing 65 475 p.H475I(1) breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 15 ACGTATAGCCCATCCAGGTGA 0.428000 12 189 9.31168e-06 1.11488e-05 0.001855 1 0 OR2L13 284521 broad.mit.edu 37 1 248263030 248263030 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248263030C>A ENST00000366478.2 + 3 690 c.353C>A c.(352-354)gCc>gAc p.A118D OR2L13_ENST00000358120.2_Missense_Mutation_p.A118D NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.A118E(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 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;0.0132) ACCTCCATGGCCTACGACCGT 0.512000 38 275 1.08052e-11 1.56595e-11 0.004289 1 0 HDAC11 79885 broad.mit.edu 37 3 13545601 13545601 + Nonsense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:13545601C>G ENST00000433119.1 + 8 1005 c.530C>G c.(529-531)tCa>tGa p.S177* HDAC11_ENST00000522202.1_Missense_Mutation_p.I168M|HDAC11_ENST00000405025.1_Nonsense_Mutation_p.S59*|HDAC11_ENST00000404548.1_Nonsense_Mutation_p.S87*|HDAC11_ENST00000404040.1_Missense_Mutation_p.I119M|HDAC11_ENST00000402259.1_Missense_Mutation_p.I53M|HDAC11_ENST00000402271.1_Missense_Mutation_p.I140M|HDAC11_ENST00000295757.3_Missense_Mutation_p.I219M|HDAC11_ENST00000446613.2_Missense_Mutation_p.I27M|HDAC11_ENST00000437379.2_Missense_Mutation_p.I191M Q96DB2 HDA11_HUMAN histone deacetylase 11 0 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding p.I219M(1) breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 cagagGCCATCAGGCGGAAGG 0.547000 3 19 0 0 0.009096 0 0 DARC 2532 broad.mit.edu 37 1 159175860 159175860 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:159175860A>T ENST00000537147.1 + 3 1474 c.631A>T c.(631-633)Act>Tct p.T211S DARC_ENST00000368122.2_Missense_Mutation_p.T211S|DARC_ENST00000368121.2_Missense_Mutation_p.T213S Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 211 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity p.T213S(1) large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) GGCCACACACACTGTAGCCTG 0.562000 9 146 0 0 0.008291 0 0 EPHA8 2046 broad.mit.edu 37 1 22915542 22915542 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:22915542G>T ENST00000166244.3 + 5 1230 c.1158G>T c.(1156-1158)gtG>gtT p.V386V EPHA8_ENST00000374644.4_Silent_p.V386V|EPHA8_ENST00000538803.1_Silent_p.V386V NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 386 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity p.V386V(2) breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCCGCTTTGTGCCCCAGCAGA 0.662000 6 20 8.12818e-05 9.41822e-05 0.001984 1 0 ACE 1636 broad.mit.edu 37 17 61566371 61566371 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:61566371G>C ENST00000577647.1 + 6 842 c.797G>C c.(796-798)cGg>cCg p.R266P ACE_ENST00000490216.2_Missense_Mutation_p.R266P|ACE_ENST00000428043.1_Missense_Mutation_p.R840P|ACE_ENST00000421982.2_Intron|ACE_ENST00000413513.3_Missense_Mutation_p.R266P|ACE_ENST00000290863.6_Missense_Mutation_p.R266P|ACE_ENST00000290866.4_Missense_Mutation_p.R840P P12821 ACE_HUMAN angiotensin I converting enzyme 840 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding p.R840P(1)|p.R266P(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GACCTGGAGCGGCTCTTCCAG 0.622000 20 46 0 0 0.010504 0 0 TTC17 55761 broad.mit.edu 37 11 43427092 43427092 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:43427092G>T ENST00000039989.4 + 12 1522 c.1508G>T c.(1507-1509)aGa>aTa p.R503I TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R503I NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 503 binding p.R503I(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TGGCCTAAAAGAGCAGATTGT 0.368000 155 192 2.07621e-90 3.63899e-90 0.003610 1 0 PPM1G 5496 broad.mit.edu 37 2 27608704 27608704 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:27608704T>A ENST00000344034.4 - 4 583 c.319A>T c.(319-321)Act>Tct p.T107S PPM1G_ENST00000350803.4_Missense_Mutation_p.T107S NM_177983.2 NP_817092.1 O15355 PPM1G_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1G 107 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity p.T107S(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) ACTTCTTCAGTGGTCAATTTG 0.408000 12 69 0 0 0.000978 0 0 SPAM1 6677 broad.mit.edu 37 7 123594227 123594227 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:123594227A>G ENST00000340011.5 + 3 960 c.603A>G c.(601-603)gtA>gtG p.V201V SPAM1_ENST00000460182.1_Silent_p.V201V|SPAM1_ENST00000402183.2_Silent_p.V201V|SPAM1_ENST00000439500.1_Silent_p.V201V|SPAM1_ENST00000223028.7_Silent_p.V201V NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 201 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity p.V201V(2) breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ATTTCCTGGTAGAGACTATAA 0.383000 14 103 0 0 0.002450 0 0 PDHA2 5161 broad.mit.edu 37 4 96762021 96762021 + Nonsense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:96762021C>G ENST00000295266.4 + 1 783 c.720C>G c.(718-720)taC>taG p.Y240* NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 240 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.Y240*(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GCCCTGATTACTACAAGAGGG 0.428000 8 57 0 0 0.006214 0 0 OR10T2 128360 broad.mit.edu 37 1 158368475 158368475 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:158368475C>A ENST00000334438.1 - 1 781 c.782G>T c.(781-783)cGg>cTg p.R261L NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R261L(2) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) GGACTTGGGCCGCAGATAGAT 0.512000 9 67 3.86212e-05 4.50194e-05 0.008291 1 0 DCC 1630 broad.mit.edu 37 18 50705378 50705378 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:50705378G>T ENST00000442544.2 + 9 2081 c.1465G>T c.(1465-1467)Gtg>Ttg p.V489L DCC_ENST00000412726.1_Missense_Mutation_p.V337L|DCC_ENST00000581580.1_Missense_Mutation_p.V144L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 489 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.V489L(1) NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TCAGCTCACTGTGGGAAACCT 0.478000 14 58 0.00316338 0.00340915 0.003163 1 0 PLA2G4A 5321 broad.mit.edu 37 1 186909161 186909161 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:186909161A>C ENST00000367466.3 + 10 1120 c.968A>C c.(967-969)cAa>cCa p.Q323P PLA2G4A_ENST00000442353.2_Missense_Mutation_p.Q263P NM_024420.2 NP_077734.1 P47712 PA24A_HUMAN phospholipase A2, group IVA (cytosolic, calcium-dependent) 323 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity p.Q323P(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1) 53 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) AATACTGCACAATGCCCTTTA 0.383000 17 138 0 0 0.007413 0 0 ROCK1 6093 broad.mit.edu 37 18 18586524 18586524 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:18586524G>A ENST00000399799.1 - 16 2613 c.1673C>T c.(1672-1674)tCg>tTg p.S558L NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 558 Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity p.S558L(1) NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) AGCTGTGTCCGATTCTGTCCT 0.358000 4 146 0 0 0.009096 0 0 WDR60 55112 broad.mit.edu 37 7 158683963 158683963 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:158683963A>G ENST00000407559.3 + 8 1156 c.998A>G c.(997-999)cAc>cGc p.H333R NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 333 p.H333R(1) NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) TAGCATGGCCACGAGGAAGGC 0.607000 69 144 0 0 0.003610 0 0 TAAR6 319100 broad.mit.edu 37 6 132891677 132891677 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:132891677T>C ENST00000275198.1 + 1 217 c.217T>C c.(217-219)Tct>Cct p.S73P NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 73 plasma membrane G-protein coupled receptor activity p.S73P(1) cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TCTCGTTGCCTCTCTGGCCTG 0.522000 39 157 0 0 0.002522 0 0 QSER1 79832 broad.mit.edu 37 11 32953814 32953814 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:32953814C>T ENST00000399302.2 + 4 958 c.623C>T c.(622-624)tCa>tTa p.S208L QSER1_ENST00000527788.1_Missense_Mutation_p.S208L NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 208 Ser-rich. p.S208L(1) breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) CTGACTGGTTCACAGCACTCC 0.418000 5 120 0 0 0.000602 0 0 PID1 55022 broad.mit.edu 37 2 229890500 229890500 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:229890500C>A ENST00000392054.3 - 4 934 c.595G>T c.(595-597)Gag>Tag p.E199* PID1_ENST00000409462.1_Nonsense_Mutation_p.E119*|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Nonsense_Mutation_p.E168*|PID1_ENST00000354069.6_Nonsense_Mutation_p.E201* NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 201 PID. cytoplasm p.E199*(1) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) CTCTCGCACTCCACGGCGTGG 0.587000 15 150 1.49906e-05 1.77945e-05 0.002450 1 0 ZNF8 7554 broad.mit.edu 37 19 58805952 58805952 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:58805952A>G ENST00000196548.5 + 4 909 c.778A>G c.(778-780)Act>Gct p.T260A AC010642.1_ENST00000591325.1_3'UTR NM_021089.2 NP_066575.2 P17098 ZNF8_HUMAN zinc finger protein 8 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T260A(1) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) CTACAAATGTACTGACTGTGG 0.483000 13 42 0 0 0.002450 0 0 OR2G2 81470 broad.mit.edu 37 1 247752015 247752015 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:247752015G>T ENST00000320065.1 + 1 354 c.354G>T c.(352-354)ccG>ccT p.P118P RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P118P(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 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) GCGTCCTCCCGGCTGTGATGT 0.522000 36 274 2.75727e-19 4.36044e-19 0.004878 1 0 FAM47C 442444 broad.mit.edu 37 X 37026518 37026518 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:37026518C>A ENST00000358047.3 + 1 87 c.35C>A c.(34-36)tCc>tAc p.S12Y NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 12 p.S12Y(2) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CGGCCCAGTTCCCCGGGCATG 0.662000 5 19 0.000602214 0.000676794 0.000602 1 0 CCR8 1237 broad.mit.edu 37 3 39374244 39374244 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:39374244C>A ENST00000414803.1 + 3 320 c.249C>A c.(247-249)tgC>tgA p.C83* CCR8_ENST00000545843.1_Missense_Mutation_p.A58D|CCR8_ENST00000326306.4_Missense_Mutation_p.A141D P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 0 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity p.A141N(1) NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) GCCGTGTATGCCCTAAAGGTG 0.502000 36 251 1.66425e-11 2.40117e-11 0.004878 1 0 IGKV6D-41 28869 broad.mit.edu 37 2 90108837 90108837 + RNA SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:90108837T>A ENST00000390271.2 + 0 128 TCTCTGTGACTCCAGGGGAGA 0.488000 5 72 0 0 0.000602 0 0 C1orf141 400757 broad.mit.edu 37 1 67591503 67591503 + Silent SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:67591503A>T ENST00000371007.2 - 4 274 c.165T>A c.(163-165)gcT>gcA p.A55A C1orf141_ENST00000544837.1_Silent_p.A55A|C1orf141_ENST00000371006.1_Silent_p.A55A NM_001276351.1 NP_001263280.1 Q5JVX7 CA141_HUMAN chromosome 1 open reading frame 141 55 p.A55A(1) NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 ACGCGGATGTAGCAAGAGCTT 0.363000 29 185 0 0 0.002096 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770490 31770490 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:31770490T>A ENST00000240587.4 - 2 536 c.209A>T c.(208-210)cAt>cTt p.H70L NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 70 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H70L(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GTCCATTTCATGGCAGGAAAA 0.592000 4 29 0 0 0.001168 0 0 SLC27A2 11001 broad.mit.edu 37 15 50519376 50519376 + Splice_Site SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:50519376G>A ENST00000267842.5 + 7 1689 c.e7+1 SLC27A2_ENST00000544960.1_Splice_Site|SLC27A2_ENST00000380902.4_Splice_Site NM_003645.3 NP_003636.2 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid transporter), member 2 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity p.?(1) NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) ATACATTCCGGTTGGTTTTTC 0.398000 5 94 0 0 0.001168 0 0 AXIN2 8313 broad.mit.edu 37 17 63554271 63554271 + Nonsense_Mutation SNP G G T rs62640025 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:63554271G>T ENST00000307078.5 - 2 781 c.468C>A c.(466-468)taC>taA p.Y156* AXIN2_ENST00000375702.5_Nonsense_Mutation_p.Y156*|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 156 RGS. cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding p.Y156*(1) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 CATCTCTTATGTAGGTCTTGG 0.468000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 77 128 4.78148e-37 8.27597e-37 0.003610 1 0 TBXAS1 6916 broad.mit.edu 37 7 139655295 139655295 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:139655295G>C ENST00000263552.6 + 11 1118 c.580G>C c.(580-582)Gtc>Ctc p.V194L TBXAS1_ENST00000411653.1_Missense_Mutation_p.V193L|TBXAS1_ENST00000436047.2_Missense_Mutation_p.V194L|TBXAS1_ENST00000448866.1_Missense_Mutation_p.V193L|TBXAS1_ENST00000336425.5_Missense_Mutation_p.V193L|TBXAS1_ENST00000425687.1_Missense_Mutation_p.V126L|TBXAS1_ENST00000458722.1_Missense_Mutation_p.V239L|TBXAS1_ENST00000416849.2_Missense_Mutation_p.V240L|TBXAS1_ENST00000414508.2_Missense_Mutation_p.V194L|TBXAS1_ENST00000462275.1_3'UTR NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 193 A -> P (in Ref. 2; AAA60618, 4; AAC01761, 5; AAF99269/AAF99270/AAF99271/AAF99272/ AAF99273/AAF99274/AAF99275/AAF99276/ AAF99277/AAF99278/AAF99279 and 7; AAA36742). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity p.V194L(1)|p.V240L(1) breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GGTTGCCAGCGTCGCCTTTGG 0.572000 29 133 0 0 0.003271 0 0 DCLK3 85443 broad.mit.edu 37 3 36763072 36763072 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:36763072A>G ENST00000416516.2 - 3 2021 c.1531T>C c.(1531-1533)Ttt>Ctt p.F511L DCLK3_ENST00000498047.1_5'UTR NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 511 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.F511L(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 CACACAGTAAATATAGGTCTC 0.428000 5 126 0 0 0.000602 0 0 CCDC74B 91409 broad.mit.edu 37 2 130897872 130897872 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:130897872C>T ENST00000392984.3 - 4 1805 c.1062G>A c.(1060-1062)atG>atA p.M354I CCDC74B_ENST00000310463.6_Missense_Mutation_p.M252I|CCDC74B_ENST00000409943.3_Missense_Mutation_p.M186I Q96LY2 CC74B_HUMAN coiled-coil domain containing 74B 252 p.M252I(1) endometrium(2)|large_intestine(1)|lung(3) 6 Colorectal(110;0.1) CCGCCGCCCCCATCTGCCTGC 0.607000 68 123 0 0 0.003610 0 0 C3orf38 285237 broad.mit.edu 37 3 88202561 88202561 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:88202561G>A ENST00000318887.3 + 2 625 c.315G>A c.(313-315)ctG>ctA p.L105L C3orf38_ENST00000486971.1_Silent_p.L105L NM_173824.3 NP_776185.2 Q5JPI3 CC038_HUMAN chromosome 3 open reading frame 38 105 apoptosis p.L103L(1) breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 12 Lung NSC(201;0.17) UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661) AACCACAACTGAAATTGAAGG 0.383000 62 90 0 0 0.003610 0 0 BTK 695 broad.mit.edu 37 X 100630242 100630242 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:100630242G>C ENST00000308731.7 - 2 194 c.31C>G c.(31-33)Ctg>Gtg p.L11V BTK_ENST00000372880.1_Missense_Mutation_p.L11V|BTK_ENST00000464567.1_5'UTR NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 11 PH. L -> P (in XLA). calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding p.L11V(1) breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 GATCGCTTCAGAAAGATGCTC 0.438000 Agammaglobulinemia, X-linked 44 110 0 0 0.002522 0 0 LAMA2 3908 broad.mit.edu 37 6 129571288 129571288 + Missense_Mutation SNP C C A rs112388307 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:129571288C>A ENST00000421865.2 + 13 1863 c.1814C>A c.(1813-1815)aCc>aAc p.T605N NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 605 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.T605K(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TTGACATTTACCATATCATAT 0.403000 56 100 1.48873e-21 2.4295e-21 0.003610 1 0 TRRAP 8295 broad.mit.edu 37 7 98574387 98574387 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:98574387G>T ENST00000359863.4 + 54 8429 c.8220G>T c.(8218-8220)ccG>ccT p.P2740P TRRAP_ENST00000355540.3_Silent_p.P2722P|TRRAP_ENST00000446306.3_Silent_p.P2722P NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2740 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity p.P2722P(1)|p.P2740P(1) NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCACCCCGCCGCAGCAGGTGA 0.478000 10 84 1.58986e-06 1.96157e-06 0.008291 1 0 ZNF543 125919 broad.mit.edu 37 19 57839594 57839594 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:57839594A>G ENST00000321545.4 + 4 1109 c.764A>G c.(763-765)tAt>tGt p.Y255C NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y255C(1) breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GAGAAGCCCTATAAGTGCATG 0.498000 3 101 0 0 0.004672 0 0 HSD11B1 3290 broad.mit.edu 37 1 209878314 209878314 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:209878314C>A ENST00000367028.2 + 2 196 c.27C>A c.(25-27)ctC>ctA p.L9L HSD11B1_ENST00000367027.3_Silent_p.L9L|RP1-28O10.1_ENST00000441672.1_RNA|HSD11B1_ENST00000261465.1_Silent_p.L9L NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 9 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding p.L9L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) AATATCTCCTCCCCATTCTGG 0.463000 16 124 1.3612e-06 1.68588e-06 0.003163 1 0 SSR1 6745 broad.mit.edu 37 6 7301605 7301605 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:7301605C>G ENST00000244763.4 - 4 567 c.481G>C c.(481-483)Gca>Cca p.A161P SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000479365.1_Missense_Mutation_p.A161P|SSR1_ENST00000534851.1_Missense_Mutation_p.A134P|SSR1_ENST00000474597.1_Missense_Mutation_p.A161P|SSR1_ENST00000489567.1_Intron|SSR1_ENST00000462112.1_Missense_Mutation_p.A161P|SSR1_ENST00000397511.2_Missense_Mutation_p.A161P NM_003144.3 NP_003135.2 P43307 SSRA_HUMAN signal sequence receptor, alpha 161 cotranslational protein targeting to membrane|positive regulation of cell proliferation endoplasmic reticulum membrane|integral to membrane signal sequence binding p.A161P(1) NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1) 9 Ovarian(93;0.0398) ATGGGCTCTGCAGGAATGAAA 0.428000 3 73 0 0 0.004672 0 0 MYOCD 93649 broad.mit.edu 37 17 12666523 12666523 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:12666523G>T ENST00000425538.1 + 14 2723 c.2523G>T c.(2521-2523)caG>caT p.Q841H RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.Q793H NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 793 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding p.Q793H(1)|p.Q841H(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CAGGCAGCCAGATCCCCTTTG 0.493000 41 110 1.82294e-38 3.1665e-38 0.003610 1 0 CD109 135228 broad.mit.edu 37 6 74407145 74407145 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:74407145C>A ENST00000437994.2 + 2 528 c.97C>A c.(97-99)Cca>Aca p.P33T CD109_ENST00000287097.5_Missense_Mutation_p.P33T|CD109_ENST00000422508.2_Missense_Mutation_p.P33T NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 33 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity p.P33T(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGTGACAGCCCCAGGGATCAT 0.507000 22 133 7.33628e-21 1.18725e-20 0.002299 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121668644 121668644 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:121668644G>T ENST00000393386.2 + 14 5438 c.5027G>T c.(5026-5028)aGt>aTt p.S1676I PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S816I NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1676 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity p.S1676I(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TTAGAGGACAGTACATCCCCT 0.378000 39 112 1.07121e-22 1.77499e-22 0.006999 1 0 SPATA31A6 389730 broad.mit.edu 37 9 43627756 43627756 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:43627756G>T ENST00000332857.6 - 4 959 c.931C>A c.(931-933)Cag>Aag p.Q311K NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.Q311K(1)|p.Q311E(1) GCTTCCATCTGACAGGTCTCT 0.532000 9 366 0.000274275 0.000310398 0.004482 1 0 CD300LF 146722 broad.mit.edu 37 17 72700714 72700714 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:72700714C>T ENST00000469092.1 - 3 570 c.294G>A c.(292-294)atG>atA p.M98I CD300LF_ENST00000301573.9_Missense_Mutation_p.M95I|CD300LF_ENST00000583937.1_Missense_Mutation_p.M95I|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_Missense_Mutation_p.M98I|CD300LF_ENST00000361254.4_Missense_Mutation_p.M98I|CD300LF_ENST00000326165.6_Missense_Mutation_p.M95I|CD300LF_ENST00000581500.1_Missense_Mutation_p.M98I|CD300LF_ENST00000464910.1_Missense_Mutation_p.M98I|RAB37_ENST00000402449.4_Intron Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 95 Ig-like V-type. integral to membrane|plasma membrane receptor activity p.M95I(2) endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TGAGATCCTCCATGGTCACAG 0.483000 57 277 0 0 0.003610 0 0 PANK1 53354 broad.mit.edu 37 10 91371758 91371758 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:91371758C>A ENST00000307534.4 - 2 906 c.751G>T c.(751-753)Gtg>Ttg p.V251L PANK1_ENST00000371774.2_Missense_Mutation_p.V53L|PANK1_ENST00000342512.3_Missense_Mutation_p.V26L|PANK1_ENST00000322191.6_Missense_Mutation_p.V26L NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 251 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity p.V251L(1) cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) TCGAAATACACCAATTTAACC 0.458000 14 104 3.45872e-05 4.0807e-05 0.004007 1 0 ZWINT 11130 broad.mit.edu 37 10 58117948 58117948 + Splice_Site SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:58117948T>A ENST00000373944.3 - 9 914 c.e9-2 ZWINT_ENST00000460654.1_Splice_Site|ZWINT_ENST00000318387.2_3'UTR|ZWINT_ENST00000361148.6_Splice_Site|ZWINT_ENST00000395405.1_3'UTR O95229 ZWINT_HUMAN ZW10 interacting kinetochore protein cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization condensed chromosome kinetochore|cytosol|nucleus protein N-terminus binding NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1) 20 GTCAGAGGCCTGGGGAAGAAG 0.512000 41 113 0 0 0.002852 0 0 PMEL 6490 broad.mit.edu 37 12 56355437 56355437 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:56355437C>A ENST00000548747.1 - 2 818 c.156G>T c.(154-156)tgG>tgT p.W52C PMEL_ENST00000550464.1_Intron|PMEL_ENST00000550447.1_Intron|PMEL_ENST00000539511.1_Intron|PMEL_ENST00000552882.1_Missense_Mutation_p.W52C|PMEL_ENST00000536427.1_Missense_Mutation_p.W52C|PMEL_ENST00000548689.1_5'UTR|PMEL_ENST00000360714.4_Missense_Mutation_p.W52C|PMEL_ENST00000548493.1_Missense_Mutation_p.W52C|PMEL_ENST00000449260.2_Missense_Mutation_p.W52C P40967 PMEL_HUMAN premelanosome protein 52 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding p.W52C(1) NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGGCTTCTGTCCACTCTGGAT 0.522000 28 178 4.02929e-09 5.41139e-09 0.002096 1 0 C11orf84 144097 broad.mit.edu 37 11 63586320 63586320 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:63586320C>A ENST00000294244.4 + 5 1079 c.780C>A c.(778-780)gcC>gcA p.A260A NM_138471.1 NP_612480.1 Q9BUA3 CK084_HUMAN chromosome 11 open reading frame 84 260 p.A260A(1) endometrium(3)|kidney(1)|lung(3)|skin(1) 8 CAGCACCAGCCGAGGTCCGAC 0.632000 35 54 1.15183e-24 1.94509e-24 0.009718 1 0 ELF2 1998 broad.mit.edu 37 4 139981626 139981626 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:139981626C>A ENST00000394235.2 - 9 1475 c.973G>T c.(973-975)Gtt>Ttt p.V325F ELF2_ENST00000379550.1_Missense_Mutation_p.V337F|ELF2_ENST00000510408.1_Missense_Mutation_p.V265F|ELF2_ENST00000358635.3_Missense_Mutation_p.V277F|ELF2_ENST00000379549.2_Missense_Mutation_p.V248F|ELF2_ENST00000265495.4_Missense_Mutation_p.V325F|ELF2_ENST00000515489.1_5'UTR NM_001276458.1 NP_001263387.1 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription factor) 337 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V325F(1) endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 19 all_hematologic(180;0.162) CCACTGCGAACAGAGGATGCT 0.438000 22 129 6.44725e-10 8.90509e-10 0.002299 1 0 TREML3P 340206 broad.mit.edu 37 6 41184894 41184894 + RNA SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:41184894C>A ENST00000564680.1 - 0 316 GGTGAGGGTCCACGTAGGAGA 0.562000 21 115 7.88262e-20 1.25476e-19 0.003330 1 0 DYRK1A 1859 broad.mit.edu 37 21 38853123 38853123 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:38853123G>T ENST00000339659.3 + 4 1954 c.484G>T c.(484-486)Gga>Tga p.G162* DYRK1A_ENST00000451934.1_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000338785.3_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000398960.2_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000321219.8_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000398956.2_Nonsense_Mutation_p.G171*|DYRK1A_ENST00000462274.1_3'UTR NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 171 Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity p.G171*(1) breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGGTTCCTTTGGACAGGTAAT 0.333000 15 42 1.99824e-07 2.51659e-07 0.004990 1 0 C14orf177 283598 broad.mit.edu 37 14 99183529 99183529 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:99183529C>G ENST00000325812.2 + 4 715 c.296C>G c.(295-297)gCt>gGt p.A99G NM_182560.2 NP_872366.2 Q52M58 CN177_HUMAN chromosome 14 open reading frame 177 99 p.A99G(1)|p.A99V(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 13 Melanoma(154;0.128) ATAATGTCTGCTTCGACCATC 0.413000 10 74 0 0 0.006214 0 0 WDR7 23335 broad.mit.edu 37 18 54547264 54547264 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:54547264G>C ENST00000254442.3 + 21 3605 c.3394G>C c.(3394-3396)Gta>Cta p.V1132L WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.V1099L NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1132 p.V1132L(1) NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TTTACTTGGAGTAATAGGAGC 0.423000 15 82 0 0 0.004007 0 0 OR2M4 26245 broad.mit.edu 37 1 248402946 248402946 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248402946C>A ENST00000306687.1 + 1 716 c.716C>A c.(715-717)aCt>aAt p.T239N NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T239N(1) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AAGGCCTTCACTACCTGCTCC 0.502000 17 86 2.35188e-11 3.38824e-11 0.006122 1 0 GALR2 8811 broad.mit.edu 37 17 74071267 74071267 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:74071267G>T ENST00000329003.3 + 1 393 c.303G>T c.(301-303)gtG>gtT p.V101V NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 101 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity p.V101V(1) cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 GCAAGGCGGTGCACTTCCTCA 0.657000 37 46 5.43694e-19 8.57024e-19 0.005524 1 0 NOMO1 23420 broad.mit.edu 37 16 14989374 14989374 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:14989374A>T ENST00000287667.7 + 31 3712 c.3541A>T c.(3541-3543)Att>Ttt p.I1181F NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1181 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding p.I1181F(1) endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TTTCTAGCTCATTCCTTTGCT 0.542000 72 233 0 0 0.003610 0 0 STK11 6794 broad.mit.edu 37 19 1219360 1219360 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:1219360G>T ENST00000326873.7 + 3 1585 c.412G>T c.(412-414)Gaa>Taa p.E138* STK11_ENST00000585748.1_3'UTR NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 138 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.Q137_E138>H*(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 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)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TGGCATGCAGGAAATGCTGGA 0.701000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 7 3 0.00307968 0.00332263 0.003080 1 0 RHOD 29984 broad.mit.edu 37 11 66837915 66837915 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:66837915A>G ENST00000308831.2 + 4 435 c.350A>G c.(349-351)cAt>cGt p.H117R RHOD_ENST00000532559.1_Missense_Mutation_p.H51R|RHOD_ENST00000533360.1_3'UTR NM_014578.3 NP_055393.1 O00212 RHOD_HUMAN ras homolog family member D 117 regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity p.H117R(1) lung(3) 3 GAAGTGAATCATTTCTGCAAG 0.567000 32 56 0 0 0.003271 0 0 CLN3 1201 broad.mit.edu 37 16 28488912 28488912 + Silent SNP G G T rs1064886 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:28488912G>T ENST00000569430.1 - 17 2061 c.1242C>A c.(1240-1242)atC>atA p.I414I CLN3_ENST00000333496.9_Silent_p.I390I|CLN3_ENST00000395653.4_Silent_p.I314I|CLN3_ENST00000360019.2_Silent_p.I414I|CLN3_ENST00000357806.7_Silent_p.I315I|CLN3_ENST00000355477.5_Silent_p.I366I|CLN3_ENST00000357857.9_Silent_p.I360I|CLN3_ENST00000359984.7_Silent_p.I414I|CLN3_ENST00000567963.1_Silent_p.I317I|CLN3_ENST00000354630.5_Silent_p.I397I|CLN3_ENST00000568224.1_Silent_p.I336I|CLN3_ENST00000535392.1_Silent_p.I336I|CLN3_ENST00000565316.1_Silent_p.I397I Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 414 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding p.I414I(1) breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 GTGTGTCAGAGATGCAGGTGG 0.617000 35 70 1.07121e-22 1.77499e-22 0.006999 1 0 OR2L13 284521 broad.mit.edu 37 1 248263031 248263031 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:248263031C>A ENST00000366478.2 + 3 691 c.354C>A c.(352-354)gcC>gcA p.A118A OR2L13_ENST00000358120.2_Silent_p.A118A NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding p.A118E(2) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 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;0.0132) CCTCCATGGCCTACGACCGTT 0.507000 38 269 1.66425e-11 2.40117e-11 0.004878 1 0 CPEB4 80315 broad.mit.edu 37 5 173376573 173376573 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:173376573G>T ENST00000265085.5 + 6 2973 c.1519G>T c.(1519-1521)Gag>Tag p.E507* CPEB4_ENST00000519835.1_Nonsense_Mutation_p.E482*|CPEB4_ENST00000517880.1_Nonsense_Mutation_p.E100*|CPEB4_ENST00000522336.1_Nonsense_Mutation_p.E117*|CPEB4_ENST00000520867.1_Nonsense_Mutation_p.E482*|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Nonsense_Mutation_p.E490* NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 507 RRM 1. nucleotide binding|RNA binding p.E507*(1) NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCATAAAGCTGAGAGCAAATC 0.323000 6 79 0.00198382 0.00215952 0.001984 1 0 CSPG4 1464 broad.mit.edu 37 15 75982722 75982722 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:75982722A>T ENST00000308508.5 - 3 776 c.684T>A c.(682-684)ttT>ttA p.F228L NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 228 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity p.F228L(1) breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 TGGTGAGTGTAAACTCTAGGG 0.617000 23 36 0 0 0.003954 0 0 TMEM30A 55754 broad.mit.edu 37 6 75969072 75969072 + Nonsense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:75969072G>A ENST00000230461.6 - 5 1005 c.676C>T c.(676-678)Cga>Tga p.R226* TMEM30A_ENST00000475111.2_Nonsense_Mutation_p.R190*|TMEM30A_ENST00000370050.5_Nonsense_Mutation_p.R107* NM_018247.3 NP_060717.1 Q9NV96 CC50A_HUMAN transmembrane protein 30A 226 integral to membrane p.R226*(1) NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCTTTAAATCGTTCTTCCAGG 0.308000 42 112 0 0 0.003610 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142586820 142586820 + Silent SNP G G A rs79503222 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:142586820G>A ENST00000378004.3 + 21 2401 c.2046G>A c.(2044-2046)gcG>gcA p.A682A ARHGAP26_ENST00000274498.4_Silent_p.A682A|ARHGAP26_ENST00000486650.1_Intron NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 682 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding p.A682A(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTTCTCGGCGCCATCCAGCC 0.557000 6 109 0 0 0.003080 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39914084 39914084 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:39914084G>A ENST00000425673.1 + 16 2628 c.2303G>A c.(2302-2304)gGt>gAt p.G768D PLEKHG2_ENST00000458508.2_Missense_Mutation_p.G738D|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.G797D|PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron Q9H7P9 PKHG2_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 2 797 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity p.G738D(1)|p.G755D(1)|p.G797D(1) breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCGGATCTGGGTGGAGACAGC 0.652000 4 22 0 0 0.001168 0 0 TBCEL 219899 broad.mit.edu 37 11 120924346 120924346 + Silent SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:120924346A>T ENST00000422003.2 + 4 548 c.360A>T c.(358-360)acA>acT p.T120T TBCEL_ENST00000529397.1_Silent_p.T120T NM_152715.3 NP_689928.3 Q5QJ74 TBCEL_HUMAN tubulin folding cofactor E-like 120 cytoplasm|cytoskeleton p.T120T(1) TECTA/TBCEL(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121) TAGAAAGAACATGTGCTGGGT 0.433000 6 185 0 0 0.001168 0 0 SVIL 6840 broad.mit.edu 37 10 29782203 29782203 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:29782203G>A ENST00000375398.2 - 23 4408 c.3959C>T c.(3958-3960)cCa>cTa p.P1320L SVIL_ENST00000538146.1_Missense_Mutation_p.P112L|SVIL_ENST00000355867.4_Missense_Mutation_p.P1320L|SVIL_ENST00000535393.1_Missense_Mutation_p.P234L|SVIL_ENST00000375400.3_Missense_Mutation_p.P894L O95425 SVIL_HUMAN supervillin 1320 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding p.P1320L(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) AGGACTTCTTGGCATATTATA 0.468000 15 47 0 0 0.003163 0 0 CYP4B1 1580 broad.mit.edu 37 1 47279694 47279694 + Missense_Mutation SNP G G T rs139993247 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:47279694G>T ENST00000271153.4 + 6 767 c.731G>T c.(730-732)cGc>cTc p.R244L CYP4B1_ENST00000452782.2_Missense_Mutation_p.R82L|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R245L|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R230L P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, polypeptide 1 244 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.R244L(1) NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 36 Acute lymphoblastic leukemia(166;0.155) CCACATGGCCGCCGCTTCCTG 0.592000 49 102 1.38909e-20 2.23313e-20 0.003610 1 0 METTL7B 196410 broad.mit.edu 37 12 56075950 56075950 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:56075950A>G ENST00000394252.3 + 1 621 c.412A>G c.(412-414)Atg>Gtg p.M138V NM_152637.2 NP_689850.2 Q6UX53 MET7B_HUMAN methyltransferase like 7B 138 methyltransferase activity p.M88V(1)|p.M138V(1) kidney(1)|large_intestine(1)|lung(4) 6 TGATGGCTCCATGGATGTGGT 0.577000 11 50 0 0 0.001368 0 0 ZZZ3 26009 broad.mit.edu 37 1 78098720 78098720 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:78098720C>T ENST00000370801.3 - 5 795 c.320G>A c.(319-321)aGg>aAg p.R107K ZZZ3_ENST00000370798.1_Intron NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R107K(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 TTCTGTTTGCCTTCTCTCACA 0.388000 39 266 0 0 0.004289 0 0 LOC101929006 101929006 broad.mit.edu 37 6 29231528 29231528 + RNA SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:29231528C>T ENST00000441381.1 + 0 79 p.C110Y(1)|p.C110F(1) CAGAAGCATACATTCAACCGT 0.458000 12 338 0 0 0.002450 0 0 NR4A3 8013 broad.mit.edu 37 9 102595811 102595811 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:102595811T>A ENST00000338488.4 + 5 2058 c.1329T>A c.(1327-1329)gaT>gaA p.D443E NR4A3_ENST00000395097.2_Intron|NR4A3_ENST00000330847.1_Intron NM_173199.2 NP_775291.1 Q92570 NR4A3_HUMAN nuclear receptor subfamily 4, group A, member 3 0 Ligand-binding (Potential). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding p.D443E(1) TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) TAAGAGTTGATTGAATGATTT 0.343000 T EWSR1 extraskeletal myxoid chondrosarcoma 21 82 0 0 0.002299 0 0 DGKK 139189 broad.mit.edu 37 X 50133404 50133404 + RNA SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:50133404C>A ENST00000376025.2 - 0 1907 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.W412C(1)|p.W412S(1)|p.W412F(1) central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) TCATCACACTCCATCTGAAAT 0.388000 23 82 3.08376e-08 4.01924e-08 0.003330 1 0 TRPM4 54795 broad.mit.edu 37 19 49671273 49671273 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:49671273G>A ENST00000252826.5 + 4 493 c.367G>A c.(367-369)Ggg>Agg p.G123R TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.G123R NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 123 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding p.G123R(1) breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GTCAGTGCTGGGGGGATCGGG 0.672000 30 200 0 0 0.009535 0 0 CHRNA4 1137 broad.mit.edu 37 20 61991018 61991018 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:61991018T>A ENST00000370263.4 - 2 331 c.110A>T c.(109-111)gAg>gTg p.E37V CHRNA4_ENST00000463705.1_Intron NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 37 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.E37V(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GAGCCGCTCCTCGGCGTGGGC 0.667000 8 61 0 0 0.000978 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181570 140181570 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140181570C>T ENST00000522353.2 + 1 788 c.788C>T c.(787-789)aCc>aTc p.T263I PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.T263I|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 p.T263I(2) NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTAGTGGTGACCGTTAACGCC 0.408000 25 83 0 0 0.003330 0 0 OR6C1 390321 broad.mit.edu 37 12 55715313 55715313 + Silent SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:55715313A>C ENST00000379668.2 + 1 968 c.930A>C c.(928-930)acA>acC p.T310T NM_001005182.1 NP_001005182.1 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, member 1 310 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T310T(1) endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 TATTTTTCACAAGCACATGAA 0.408000 30 213 0 0 0.009535 0 0 HECW1 23072 broad.mit.edu 37 7 43484383 43484383 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:43484383C>A ENST00000395891.1 + 11 2217 c.1612C>A c.(1612-1614)Cct>Act p.P538T HECW1_ENST00000453890.1_Missense_Mutation_p.P538T NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 538 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.P538T(1)|p.P517T(1) NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CTGCTCCTTGCCTGTGTCCGA 0.657000 14 48 1.15088e-07 1.45698e-07 0.004007 1 0 COL4A5 1287 broad.mit.edu 37 X 107938500 107938500 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:107938500A>T ENST00000328300.6 + 52 5069 c.4825A>T c.(4825-4827)Aca>Tca p.T1609S COL4A5_ENST00000361603.2_Missense_Mutation_p.T1603S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1603 Collagen IV NC1. Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.T1603S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTTATAGCATACAAGTGCAGG 0.483000 Alport syndrome with Diffuse Leiomyomatosis 23 93 0 0 0.006320 0 0 TGM6 343641 broad.mit.edu 37 20 2375141 2375141 + Silent SNP C C G rs147506152 by1000genomes TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:2375141C>G ENST00000202625.2 + 2 112 c.51C>G c.(49-51)ggC>ggG p.G17G TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G17G NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 17 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.G17G(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) CGAGGAATGGCGCTGCCCACC 0.647000 4 30 0 0 0.009096 0 0 SLC22A11 55867 broad.mit.edu 37 11 64323733 64323733 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:64323733T>A ENST00000301891.4 + 1 636 c.262T>A c.(262-264)Ttc>Atc p.F88I SLC22A11_ENST00000377585.3_Missense_Mutation_p.F88I|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Missense_Mutation_p.F88I NM_018484.2 NP_060954.1 Q9NSA0 S22AB_HUMAN solute carrier family 22 (organic anion/urate transporter), member 11 88 urate metabolic process apical plasma membrane|external side of plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity p.F88I(1) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 Probenecid(DB01032) GTGCCGCCGCTTCCGCCAGCC 0.657000 OREG0004031 type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 9 47 0 0 0.001368 0 0 HOXA10 3206 broad.mit.edu 37 7 27213858 27213858 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:27213858C>A ENST00000283921.4 - 1 67 c.68G>T c.(67-69)aGc>aTc p.S23I RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000470747.4_Intron NM_018951.3 NP_061824.3 P31260 HXA10_HUMAN homeobox A10 23 spermatogenesis protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S6I(1)|p.S23I(1) breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 9 CGCGGCGGGGCTCTCCGAGCA 0.597000 8 25 0.000673444 0.000755097 0.008291 1 0 OR4C3 256144 broad.mit.edu 37 11 48346719 48346719 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:48346719C>G ENST00000319856.4 + 1 248 c.227C>G c.(226-228)tCc>tGc p.S76C NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S76C(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 ACTATCACCTCCAGCCCCACG 0.458000 6 250 0 0 0.001984 0 0 SPATA2L 124044 broad.mit.edu 37 16 89764600 89764600 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:89764600C>A ENST00000289805.5 - 3 485 c.417G>T c.(415-417)gtG>gtT p.V139V SPATA2L_ENST00000335360.7_Intron NM_152339.3 NP_689552.2 Q8IUW3 SPA2L_HUMAN spermatogenesis associated 2-like 139 p.V139V(1) breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1) 6 Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355) BRCA - Breast invasive adenocarcinoma(80;0.0272) GCAGGGCGGTCACCATGAGCC 0.657000 32 105 2.40579e-17 3.74363e-17 0.006230 1 0 BRD9 65980 broad.mit.edu 37 5 870664 870664 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:870664G>A ENST00000323510.4 - 11 1160 c.1161C>T c.(1159-1161)agC>agT p.S387S BRD9_ENST00000467963.1_Silent_p.S483S|BRD9_ENST00000483173.1_Silent_p.S430S|BRD9_ENST00000388890.4_Silent_p.S367S Q9H8M2 BRD9_HUMAN bromodomain containing 9 483 nucleic acid binding p.S483S(1)|p.S387S(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) GAACAGAGCTGCTGCTGTCTC 0.478000 15 38 0 0 0.003163 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27835161 27835161 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:27835161C>A ENST00000331442.3 - 1 198 c.147G>T c.(145-147)aaG>aaT p.K49N NM_005322.2 NP_005313.1 P16401 H15_HUMAN histone cluster 1, H1b 49 H15. nucleosome assembly nucleosome|nucleus DNA binding p.K49N(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2) 24 CAGCCACAGCCTTGGTGATCA 0.592000 7 159 0.00307968 0.00332263 0.003080 1 0 KIAA0408 9729 broad.mit.edu 37 6 127775126 127775126 + Translation_Start_Site SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:127775126T>G ENST00000483725.3 - 2 337 c.1A>C c.(1-3)Atg>Ctg p.M1L SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000368268.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 1 protein binding p.M1L(1) endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TGTAGGTCCATGGCAACAGTG 0.418000 22 169 0 0 0.002780 0 0 SYNE3 161176 broad.mit.edu 37 14 95906001 95906001 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:95906001C>G ENST00000334258.5 - 12 2208 c.2194G>C c.(2194-2196)Gag>Cag p.E732Q SYNE3_ENST00000557275.1_Missense_Mutation_p.E732Q|SYNE3_ENST00000554873.1_Missense_Mutation_p.E489Q NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 p.E732Q(3) breast(1)|endometrium(2)|lung(25) 28 TCTGCCAGCTCCCTGAGCTCC 0.637000 14 47 0 0 0.004990 0 0 KCNS3 3790 broad.mit.edu 37 2 18112296 18112296 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:18112296C>T ENST00000403915.1 + 3 472 c.21C>T c.(19-21)ttC>ttT p.F7F KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Silent_p.F7F Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 7 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity p.F7F(1) endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GTGAGTTTTTCCATCGCCCTG 0.527000 33 69 0 0 0.005524 0 0 WDR16 146845 broad.mit.edu 37 17 9503448 9503448 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:9503448C>G ENST00000352665.5 + 6 770 c.701C>G c.(700-702)cCc>cGc p.P234R WDR16_ENST00000299764.5_Missense_Mutation_p.P244R|WDR16_ENST00000396219.3_Missense_Mutation_p.P166R NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 234 cytoplasm|intracellular membrane-bounded organelle protein binding p.P234R(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 AAAATGAACCCCAGGACTAAA 0.468000 5 282 0 0 0.001984 0 0 KCNH7 90134 broad.mit.edu 37 2 163292062 163292062 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:163292062G>T ENST00000332142.5 - 8 1699 c.1600C>A c.(1600-1602)Ctt>Att p.L534I KCNH7_ENST00000328032.4_Missense_Mutation_p.L527I NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 534 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.L527I(1)|p.L534I(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ACGCGCACAAGACGGAGGAGT 0.453000 6 71 0.00116845 0.00129221 0.001168 1 0 BCL11A 53335 broad.mit.edu 37 2 60687791 60687791 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:60687791C>T ENST00000335712.6 - 4 2483 c.2256G>A c.(2254-2256)aaG>aaA p.K752K BCL11A_ENST00000538214.1_Silent_p.K718K|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.K718K|BCL11A_ENST00000356842.4_Intron NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 752 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding p.K752K(1) NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGCTACAGTTCTTGAAGACTT 0.562000 T IGH@ B-CLL 50 96 0 0 0.003610 0 0 INPP5F 22876 broad.mit.edu 37 10 121571426 121571426 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:121571426G>T ENST00000361976.2 + 15 2011 c.1845G>T c.(1843-1845)gaG>gaT p.E615D NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 615 phosphoric ester hydrolase activity p.E615D(1) breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) CTGATGATGAGAAGTTCCATG 0.463000 21 121 1.96292e-10 2.76232e-10 0.010504 1 0 APAF1 317 broad.mit.edu 37 12 99074148 99074148 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:99074148A>G ENST00000357310.1 + 14 2591 c.2014A>G c.(2014-2016)Ata>Gta p.I672V APAF1_ENST00000333991.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.I672V|APAF1_ENST00000549007.1_Missense_Mutation_p.I672V|APAF1_ENST00000339433.3_Missense_Mutation_p.I672V|APAF1_ENST00000359972.2_Missense_Mutation_p.I661V|APAF1_ENST00000550527.1_Missense_Mutation_p.I661V|APAF1_ENST00000551964.1_Missense_Mutation_p.I672V|APAF1_ENST00000552268.1_Intron NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 672 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding p.I672V(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TGACAGATTTATAGCAACCTG 0.373000 17 27 0 0 0.010504 0 0 BRMS1 25855 broad.mit.edu 37 11 66109713 66109713 + Splice_Site SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:66109713C>T ENST00000359957.3 - 2 154 c.e2-1 BRMS1_ENST00000425825.2_Splice_Site NM_015399.3 NP_056214.1 Q9HCU9 BRMS1_HUMAN breast cancer metastasis suppressor 1 apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent cytoplasm|nucleus NF-kappaB binding large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1) 5 CATCTGGACTCTGGGAGAAGG 0.542000 19 142 0 0 0.008871 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23814671 23814671 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:23814671G>A ENST00000264867.2 - 9 1990 c.1871C>T c.(1870-1872)tCa>tTa p.S624L PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 624 Arg/Ser-rich. androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding p.S624L(1) central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GGGCGATCTTGAACGTGATCT 0.493000 6 248 0 0 0.001984 0 0 CTNNA3 29119 broad.mit.edu 37 10 68526032 68526032 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:68526032C>A ENST00000433211.1 - 9 1445 c.1271G>T c.(1270-1272)aGg>aTg p.R424M CTNNA3_ENST00000373744.4_Missense_Mutation_p.R424M|CTNNA3_ENST00000494580.1_5'UTR NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 424 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity p.R424M(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CTCTACAAGCCTGCTGGTGTG 0.408000 29 234 1.39806e-14 2.1145e-14 0.008361 1 0 TTN 7273 broad.mit.edu 37 2 179650683 179650683 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179650683G>A ENST00000589042.1 - 14 2486 c.2262C>T c.(2260-2262)gcC>gcT p.A754A TTN_ENST00000342175.6_Silent_p.A708A|TTN_ENST00000460472.2_Silent_p.A708A|TTN_ENST00000342992.6_Silent_p.A754A|TTN_ENST00000591111.1_Silent_p.A754A|TTN_ENST00000359218.5_Silent_p.A708A|TTN_ENST00000360870.5_Silent_p.A754A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 754 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) GGGGTTCTGAGGCTGGACGTT 0.488000 5 112 0 0 0.001168 0 0 CXCL1 2919 broad.mit.edu 37 4 74735400 74735400 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:74735400A>G ENST00000395761.3 + 2 182 c.115A>G c.(115-117)Act>Gct p.T39A 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) 39 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 p.T39A(1) lung(2) 2 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GTCCGTGGCCACTGAACTGCG 0.652000 18 142 0 0 0.010504 0 0 FAT2 2196 broad.mit.edu 37 5 150947284 150947284 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:150947284A>G ENST00000261800.5 - 1 1221 c.1209T>C c.(1207-1209)aaT>aaC p.N403N NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 403 Cadherin 3. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.N403N(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAAATCCTACATTCTCTGAAG 0.502000 14 77 0 0 0.002450 0 0 WDR72 256764 broad.mit.edu 37 15 54003555 54003555 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:54003555A>T ENST00000396328.1 - 8 1074 c.835T>A c.(835-837)Tac>Aac p.Y279N WDR72_ENST00000360509.5_Missense_Mutation_p.Y279N|WDR72_ENST00000557913.1_Missense_Mutation_p.Y278N|WDR72_ENST00000559418.1_Missense_Mutation_p.Y279N NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 279 p.Y279N(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TGATAGATGTAACTGTGACCA 0.448000 15 94 0 0 0.004990 0 0 TP53 7157 broad.mit.edu 37 17 7574003 7574003 + Nonsense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:7574003G>A ENST00000269305.4 - 10 1213 c.1024C>T c.(1024-1026)Cga>Tga p.R342* TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron 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 342 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(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) TTCAGCTCTCGGAACATCTCG 0.557000 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) 7 20 0 0 0.003080 0 0 KIF16B 55614 broad.mit.edu 37 20 16488723 16488723 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:16488723C>A ENST00000354981.2 - 7 736 c.579G>T c.(577-579)caG>caT p.Q193H KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.Q193H|KIF16B_ENST00000408042.1_Missense_Mutation_p.Q193H NM_001199865.1|NM_024704.4 NP_001186794.1|NP_078980.3 Q96L93 KI16B_HUMAN kinesin family member 16B 193 Kinesin-motor. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity p.Q193H(2) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 CACCATAATTCTGTACTAAAT 0.413000 6 291 8.12818e-05 9.41822e-05 0.001984 1 0 FAM47B 170062 broad.mit.edu 37 X 34961456 34961456 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:34961456G>T ENST00000329357.5 + 1 544 c.508G>T c.(508-510)Gag>Tag p.E170* NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 170 p.E170*(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TGAGGCCCGGGAGAAGACAAC 0.597000 23 15 2.89027e-11 4.13321e-11 0.002299 1 0 TAB2 23118 broad.mit.edu 37 6 149700627 149700627 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:149700627G>T ENST00000367456.1 + 4 2153 c.1576G>T c.(1576-1578)Gga>Tga p.G526* TAB2_ENST00000536230.1_Nonsense_Mutation_p.G494*|TAB2_ENST00000392282.1_Nonsense_Mutation_p.G526*|TAB2_ENST00000538427.1_Nonsense_Mutation_p.G526*|TAB2_ENST00000286332.5_Nonsense_Mutation_p.G526* Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 526 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding p.G526*(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 ACTGAGTATGGGATCTGATGA 0.418000 49 107 6.23363e-37 1.07702e-36 0.003610 1 0 EPHA6 285220 broad.mit.edu 37 3 96963115 96963115 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:96963115G>T ENST00000389672.5 + 5 1628 c.1590G>T c.(1588-1590)gtG>gtT p.V530V EPHA6_ENST00000470610.2_Silent_p.V530V NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 435 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity p.V436V(3)|p.V530V(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CTATTACAGTGACCACGGATC 0.388000 8 64 9.70103e-10 1.33423e-09 0.008291 1 0 SECISBP2L 9728 broad.mit.edu 37 15 49284799 49284799 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:49284799A>C ENST00000559471.1 - 18 3211 c.2948T>G c.(2947-2949)cTt>cGt p.L983R SECISBP2L_ENST00000261847.3_Missense_Mutation_p.L938R NM_001193489.1 NP_001180418.1 Q93073 SBP2L_HUMAN SECIS binding protein 2-like 983 p.L938R(1) breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 46 GCCAGGTACAAGAGTGCTGGT 0.478000 4 97 0 0 0.000602 0 0 SLC24A5 283652 broad.mit.edu 37 15 48413344 48413344 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:48413344C>A ENST00000482911.2 + 1 144 c.103C>A c.(103-105)Cgt>Agt p.R35S SLC24A5_ENST00000449382.2_Missense_Mutation_p.R35S|SLC24A5_ENST00000341459.3_Missense_Mutation_p.R35S Q71RS6 NCKX5_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 35 response to stimulus integral to membrane|melanosome|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity p.R35S(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1) 27 all_lung(180;0.00217) all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07) CCTGCCCCAACGTCTCCCAAG 0.587000 6 14 2.0095e-06 2.46056e-06 0.001984 1 0 TGFB1 7040 broad.mit.edu 37 19 41847787 41847787 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:41847787C>A ENST00000221930.5 - 5 1727 c.e5+1 NM_000660.4 NP_000651.3 P01137 TGFB1_HUMAN transforming growth factor, beta 1 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding p.?(1) endometrium(1)|large_intestine(2)|lung(4)|skin(1) 8 Hyaluronidase(DB00070) ACAAGGCTCACCTGAAGCAAT 0.632000 6 54 0.00116845 0.00129221 0.001168 1 0 CHEK1 1111 broad.mit.edu 37 11 125499354 125499354 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:125499354G>T ENST00000534070.1 + 5 678 c.424_splice c.e5+1 p.R141_splice CHEK1_ENST00000438015.1_Splice_Site_p.R141_splice|CHEK1_ENST00000427383.2_Splice_Site_p.R157_splice|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Splice_Site_p.R141_splice|CHEK1_ENST00000524737.1_Splice_Site_p.R141_splice|CHEK1_ENST00000428830.2_Splice_Site_p.R141_splice|CHEK1_ENST00000544373.1_Splice_Site_p.R141_splice NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 141 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity p.R141S(1) central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) TGGATGAAAGGGGTAAGTTTA 0.294000 Other conserved DNA damage response genes 38 50 2.54651e-27 4.35327e-27 0.006999 1 0 MAMDC4 158056 broad.mit.edu 37 9 139749013 139749013 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:139749013T>A ENST00000445819.1 + 8 869 c.819T>A c.(817-819)ttT>ttA p.F273L MAMDC4_ENST00000317446.2_Missense_Mutation_p.F273L|MAMDC4_ENST00000485732.1_3'UTR Q6UXC1 AEGP_HUMAN MAM domain containing 4 273 MAM 2. protein transport integral to membrane p.F273L(2) breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 19 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCACCGACTTTGAGACAGGCC 0.701000 10 6 0 0 0.001368 0 0 CEP97 79598 broad.mit.edu 37 3 101446312 101446312 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:101446312G>A ENST00000341893.3 + 3 1024 c.272G>A c.(271-273)aGc>aAc p.S91N CEP97_ENST00000327230.4_Missense_Mutation_p.S91N|CEP97_ENST00000494050.1_Missense_Mutation_p.S91N Q8IW35 CEP97_HUMAN centrosomal protein 97kDa 91 centrosome|nucleus protein binding p.S91N(2) cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 CCTCATAATAGCATTGGCTGT 0.398000 17 166 0 0 0.006122 0 0 ADRA1D 146 broad.mit.edu 37 20 4202311 4202311 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:4202311C>G ENST00000379453.4 - 2 1694 c.1578G>C c.(1576-1578)gcG>gcC p.A526A NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 526 KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity p.A526A(1) endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) CTGCGCGCTGCGCGCCCCCGG 0.726000 8 32 0 0 0.001368 0 0 ZNF804B 219578 broad.mit.edu 37 7 88966056 88966056 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:88966056A>G ENST00000333190.4 + 4 4369 c.3760A>G c.(3760-3762)Acc>Gcc p.T1254A NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1254 intracellular zinc ion binding p.T1254A(1) NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TCTGACTCCAACCATTATCCC 0.478000 HNSCC(36;0.09) 8 211 0 0 0.001368 0 0 MEIS3 56917 broad.mit.edu 37 19 47920559 47920559 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:47920559G>T ENST00000331559.5 - 2 502 c.61C>A c.(61-63)Ctg>Atg p.L21M MEIS3_ENST00000441740.2_Missense_Mutation_p.L21M|MEIS3_ENST00000558555.1_Missense_Mutation_p.L21M|MEIS3_ENST00000561293.1_Missense_Mutation_p.L21M|MEIS3_ENST00000559524.1_Missense_Mutation_p.L21M|MEIS3_ENST00000561096.1_Missense_Mutation_p.L109M NM_020160.2 NP_064545.1 Q99687 MEIS3_HUMAN Meis homeobox 3 21 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L21M(1) breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2) 20 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223) AAGCTAGCCAGGGCTGCGGGG 0.687000 12 77 6.94344e-10 9.57682e-10 0.006122 1 0 PLEKHH1 57475 broad.mit.edu 37 14 68042641 68042641 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:68042641G>A ENST00000329153.5 + 16 2403 c.2271G>A c.(2269-2271)ttG>ttA p.L757L NM_020715.2 NP_065766.1 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 757 PH 2. cytoskeleton binding p.L757L(1)|p.L796L(1) endometrium(2)|kidney(4)|lung(12)|urinary_tract(1) 19 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) CCAGACGGTTGCTTTCCTCCC 0.592000 4 36 0 0 0.009096 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826240 43826240 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:43826240G>T ENST00000389420.3 - 21 2962 c.2963C>A c.(2962-2964)tCt>tAt p.S988Y ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S988Y|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.S142Y NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 988 TSP type-1 4. proteinaceous extracellular matrix zinc ion binding p.S988Y(1) 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) AGATTCTCGAGACCTTTCCCC 0.373000 12 78 2.27111e-07 2.84916e-07 0.001368 1 0 HSP90AB1 3326 broad.mit.edu 37 6 44221076 44221076 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:44221076C>T ENST00000371554.1 + 11 2240 c.2026C>T c.(2026-2028)Cac>Tac p.H676Y HSP90AB1_ENST00000371646.5_Missense_Mutation_p.H676Y|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.H676Y P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 676 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding p.H676Y(1) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCCCCAGACCCACTCCAACCG 0.502000 75 466 0 0 0.003610 0 0 DST 667 broad.mit.edu 37 6 56468159 56468159 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:56468159T>C ENST00000370754.5 - 41 10901 c.10902A>G c.(10900-10902)gcA>gcG p.A3634A DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Silent_p.A3456A|DST_ENST00000370769.4_Silent_p.A3456A|DST_ENST00000446842.2_Silent_p.A3130A|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Silent_p.A3456A Q03001 DYST_HUMAN dystonin 3456 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AAAACTCTTCTGCCAACTTCA 0.388000 6 28 0 0 0.001168 0 0 LTBP1 4052 broad.mit.edu 37 2 33359868 33359868 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:33359868C>A ENST00000404816.2 + 5 1395 c.1042C>A c.(1042-1044)Cac>Aac p.H348N LTBP1_ENST00000390003.4_Missense_Mutation_p.H22N|LTBP1_ENST00000354476.3_Missense_Mutation_p.H348N|LTBP1_ENST00000407925.1_Missense_Mutation_p.H22N|LTBP1_ENST00000418533.2_Missense_Mutation_p.H22N|LTBP1_ENST00000402934.1_Missense_Mutation_p.H22N|LTBP1_ENST00000404525.1_Missense_Mutation_p.H22N Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 348 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AGTGAGTAACCACACTGGCCG 0.473000 14 84 1.5739e-10 2.2213e-10 0.004007 1 0 SEMA6D 80031 broad.mit.edu 37 15 48057206 48057206 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:48057206G>T ENST00000316364.5 + 13 1819 c.1380G>T c.(1378-1380)ttG>ttT p.L460F SEMA6D_ENST00000536845.2_Missense_Mutation_p.L460F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.L460F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.L460F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.L460F|SEMA6D_ENST00000358066.4_Missense_Mutation_p.L460F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.L460F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.L460F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.L460F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.L460F|SEMA6D_ENST00000389425.3_Missense_Mutation_p.L460F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.L460F NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 460 Sema. axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity p.L460F(2) biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CTTTCTCTTTGAACGACAGCG 0.453000 5 103 2.7689e-08 3.62834e-08 0.001984 1 0 PNLIP 5406 broad.mit.edu 37 10 118318690 118318690 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:118318690G>A ENST00000369221.2 + 10 983 c.955G>A c.(955-957)Gga>Aga p.G319R NM_000936.2 NP_000927.1 P16233 LIPP_HUMAN pancreatic lipase 319 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity p.G319R(2) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 43 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) TTGTCCAAGTGGAGGCTGCCC 0.413000 13 56 0 0 0.006122 0 0 SGCZ 137868 broad.mit.edu 37 8 14181710 14181710 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:14181710C>A ENST00000382080.1 - 3 953 c.238G>T c.(238-240)Ggt>Tgt p.G80C SGCZ_ENST00000421524.2_Intron NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 67 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma p.G80F(1) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) TTTCCCATACCATCCTACAAG 0.363000 6 84 0.00116845 0.00129221 0.001168 1 0 HECTD4 283450 broad.mit.edu 37 12 112665893 112665893 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:112665893C>A ENST00000550722.1 - 43 6811 c.6416_splice c.e43+1 p.R2139_splice HECTD4_ENST00000377560.5_Splice_Site_p.R2113_splice|HECTD4_ENST00000430131.2_Splice_Site_p.R1863_splice NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.R1863I(1)|p.R2113I(1) GGGTACTCACCTTGTCCTTAT 0.532000 44 88 1.51926e-22 2.50884e-22 0.003610 1 0 LRP1B 53353 broad.mit.edu 37 2 141528458 141528458 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:141528458G>T ENST00000389484.3 - 34 6589 c.5618C>A c.(5617-5619)tCa>tAa p.S1873* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1873 EGF-like 4. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.S1873*(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCTTGACATGACATACGGTT 0.373000 TSP Lung(27;0.18) 36 95 6.53348e-20 1.04171e-19 0.003755 1 0 UPP1 7378 broad.mit.edu 37 7 48142902 48142902 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:48142902G>T ENST00000331803.4 + 7 953 c.330G>T c.(328-330)atG>atT p.M110I UPP1_ENST00000482015.1_Intron|UPP1_ENST00000341253.4_Missense_Mutation_p.M110I|UPP1_ENST00000395564.4_Missense_Mutation_p.M110I|UPP1_ENST00000429491.2_Intron Q16831 UPP1_HUMAN uridine phosphorylase 1 110 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity p.M110I(1) breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 AGCATGGTATGGGCATTCCTT 0.453000 11 71 5.50884e-06 6.63658e-06 0.001368 1 0 SLC18A2 6571 broad.mit.edu 37 10 119027241 119027241 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:119027241G>C ENST00000298472.5 + 13 1323 c.1180G>C c.(1180-1182)Gca>Cca p.A394P SLC18A2_ENST00000497497.1_3'UTR NM_003054.4 NP_003045.2 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 2 394 neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity p.A394P(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16) 29 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) AGTTGGTTTTGCAATTGGTAA 0.383000 3 44 0 0 0.000602 0 0 SMARCA4 6597 broad.mit.edu 37 19 11144113 11144113 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:11144113G>A ENST00000358026.2 + 26 3978 c.3694G>A c.(3694-3696)Ggc>Agc p.G1232S SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1232S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1232S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1232S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1232S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1232S NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1232 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.G1232S(5)|p.G1232C(1)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GATCCAGGCCGGCATGTTCGA 0.637000 """F, N, Mis""" NSCLC 16 77 0 0 0.004990 0 0 CSMD1 64478 broad.mit.edu 37 8 3253859 3253859 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:3253859C>A ENST00000520002.1 - 18 3008 c.2453G>T c.(2452-2454)gGg>gTg p.G818V CSMD1_ENST00000602723.1_Missense_Mutation_p.G818V|CSMD1_ENST00000537824.1_Missense_Mutation_p.G817V|CSMD1_ENST00000539096.1_Missense_Mutation_p.G817V|CSMD1_ENST00000602557.1_Missense_Mutation_p.G818V|CSMD1_ENST00000542608.1_Missense_Mutation_p.G817V|CSMD1_ENST00000400186.3_Missense_Mutation_p.G818V Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 818 CUB 5. integral to membrane p.G817V(1)|p.G546V(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACTGGCTGGCCCATCTCTGAC 0.522000 4 18 0.00024832 0.000282671 0.009096 1 0 LHX4 89884 broad.mit.edu 37 1 180243566 180243566 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:180243566C>G ENST00000263726.2 + 6 1269 c.1025C>G c.(1024-1026)gCg>gGg p.A342G RP5-1180C10.2_ENST00000415414.1_RNA|RP5-1180C10.2_ENST00000440959.2_RNA NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 342 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A342G(1) endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 GGCATCATTGCGCATGCAGGG 0.572000 87 447 0 0 0.003610 0 0 SYN3 8224 broad.mit.edu 37 22 33260911 33260911 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:33260911A>G ENST00000358763.2 - 6 944 c.702T>C c.(700-702)caT>caC p.H234H SYN3_ENST00000332840.5_Silent_p.H234H NM_001135774.1 NP_001129246.1 O14994 SYN3_HUMAN synapsin III 234 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity p.H234H(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CCATTGGCTTATGGTTGGGGA 0.463000 50 224 0 0 0.003610 0 0 BRDT 676 broad.mit.edu 37 1 92441976 92441976 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:92441976G>T ENST00000370389.2 + 5 1304 c.380G>T c.(379-381)aGt>aTt p.S127I BRDT_ENST00000402388.1_Missense_Mutation_p.S200I|BRDT_ENST00000399546.2_Missense_Mutation_p.S200I|BRDT_ENST00000362005.3_Missense_Mutation_p.S200I|BRDT_ENST00000394530.3_Missense_Mutation_p.S154I NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity p.S200I(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) GTCAACTCCAGTTCACAAACT 0.358000 14 64 2.31682e-05 2.73678e-05 0.003163 1 0 TP53 7157 broad.mit.edu 37 17 7577095 7577095 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:7577095G>T ENST00000420246.2 - 8 975 c.843C>A c.(841-843)gaC>gaA p.D281E TP53_ENST00000445888.2_Missense_Mutation_p.D281E|TP53_ENST00000269305.4_Missense_Mutation_p.D281E|TP53_ENST00000455263.2_Missense_Mutation_p.D281E|TP53_ENST00000359597.4_Missense_Mutation_p.D281E|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 281 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281E(28)|p.R282W(10)|p.0?(8)|p.D281D(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282fs*24(1)|p.D281R(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) CTGTGCGCCGGTCTCTCCCAG 0.557000 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) 19 48 1.33834e-09 1.82774e-09 0.007413 1 0 UNC5D 137970 broad.mit.edu 37 8 35583678 35583678 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:35583678C>T ENST00000287272.2 + 9 1125 c.1105C>T c.(1105-1107)Ctg>Ttg p.L369L UNC5D_ENST00000404895.2_Silent_p.L438L|UNC5D_ENST00000449677.1_Silent_p.L14L|UNC5D_ENST00000420357.1_Silent_p.L371L|UNC5D_ENST00000453357.2_Silent_p.L433L|UNC5D_ENST00000416672.1_Silent_p.L443L Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 438 apoptosis|axon guidance integral to membrane receptor activity p.L433L(1) NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) AGGTAACTCCCTGCTCCTGAA 0.507000 21 99 0 0 0.002780 0 0 SALL1 6299 broad.mit.edu 37 16 51174718 51174718 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:51174718G>T ENST00000440970.1 - 2 1555 c.1124C>A c.(1123-1125)aCc>aAc p.T375N SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.T472N NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 472 Poly-Ser. adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T472N(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCTCTCTCCGGTATGGGAACG 0.502000 24 97 3.01185e-09 4.05056e-09 0.003954 1 0 REG3G 130120 broad.mit.edu 37 2 79254299 79254299 + Splice_Site SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:79254299T>A ENST00000272324.5 + 4 517 c.e4+2 REG3G_ENST00000393897.2_Splice_Site|REG3G_ENST00000409471.1_Intron NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma acute-phase response extracellular region sugar binding p.?(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCCACACAGGTGCGAGTATAT 0.557000 10 98 0 0 0.004007 0 0 SPACA1 81833 broad.mit.edu 37 6 88773939 88773939 + Splice_Site SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:88773939T>A ENST00000237201.1 + 6 848 c.e6+2 SPACA1_ENST00000462690.1_Intron NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 integral to membrane p.?(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) CATAAATTGGTAGGTGAATAG 0.413000 11 101 0 0 0.001855 0 0 NPY2R 4887 broad.mit.edu 37 4 156135336 156135336 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:156135336G>C ENST00000329476.3 + 2 734 c.245G>C c.(244-246)cGc>cCc p.R82P NPY2R_ENST00000506608.1_Missense_Mutation_p.R82P NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 82 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity p.R82P(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) AAGAGCATGCGCACAGTAACC 0.453000 6 53 0 0 0.001168 0 0 SLIT2 9353 broad.mit.edu 37 4 20619258 20619258 + Missense_Mutation SNP G G C rs141897818 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:20619258G>C ENST00000504154.1 + 36 4585 c.4333G>C c.(4333-4335)Gac>Cac p.D1445H SLIT2_ENST00000503837.1_Missense_Mutation_p.D1441H|SLIT2_ENST00000273739.5_Missense_Mutation_p.D1458H|SLIT2_ENST00000503823.1_Missense_Mutation_p.D1437H NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1445 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding p.D1445H(1) NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATACACGGGGGACAGCTGTGA 0.537000 6 28 0 0 0.004482 0 0 SLK 9748 broad.mit.edu 37 10 105763286 105763286 + Splice_Site SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:105763286G>A ENST00000369755.3 + 9 2894 c.e9+1 SLK_ENST00000335753.4_Splice_Site NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity p.?(1) kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) ATCTTTACAAGTAAGTGTACA 0.333000 14 123 0 0 0.003163 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657101 40657101 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:40657101G>A ENST00000406785.1 - 2 509 c.320C>T c.(319-321)aCa>aTa p.T107I SLC8A1_ENST00000332839.4_Missense_Mutation_p.T107I|SLC8A1_ENST00000402441.1_Missense_Mutation_p.T107I|SLC8A1_ENST00000405901.3_Missense_Mutation_p.T107I|SLC8A1_ENST00000403092.1_Missense_Mutation_p.T107I|SLC8A1_ENST00000406391.2_Missense_Mutation_p.T107I|SLC8A1_ENST00000542024.1_Missense_Mutation_p.T107I|SLC8A1_ENST00000542756.1_Missense_Mutation_p.T107I|SLC8A1_ENST00000408028.2_Missense_Mutation_p.T107I|SLC8A1_ENST00000405269.1_Missense_Mutation_p.T107I P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 107 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding p.T107I(1) NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TTCTTGAGATGTGATGACTTC 0.398000 31 187 0 0 0.008361 0 0 PLAGL2 5326 broad.mit.edu 37 20 30784356 30784356 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:30784356C>G ENST00000246229.4 - 3 1654 c.1390G>C c.(1390-1392)Ggg>Cgg p.G464R NM_002657.3 NP_002648.1 Q9UPG8 PLAL2_HUMAN pleiomorphic adenoma gene-like 2 464 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G464R(1) breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) AGTGGTCCCCCAGCTCCTGGG 0.597000 10 100 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179468621 179468621 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179468621C>A ENST00000589042.1 - 282 55017 c.54793G>T c.(54793-54795)Gtt>Ttt p.V18265F TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9392F|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9200F|TTN_ENST00000342992.6_Missense_Mutation_p.V15697F|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16624F|TTN_ENST00000359218.5_Missense_Mutation_p.V9325F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16624 Fibronectin type-III 32. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V15697F(2)|p.V9200F(1)|p.V9325F(1)|p.V9392F(1) 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) TCTCCTGCAACCTCTGGATCT 0.408000 27 88 9.90768e-06 1.18477e-05 0.004656 1 0 LRMP 4033 broad.mit.edu 37 12 25243005 25243005 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:25243005A>T ENST00000354454.3 + 13 1309 c.480A>T c.(478-480)agA>agT p.R160S LRMP_ENST00000548766.1_Missense_Mutation_p.R160S|LRMP_ENST00000547044.1_Missense_Mutation_p.R160S NM_006152.3 NP_006143.2 Q12912 LRMP_HUMAN lymphoid-restricted membrane protein 216 vesicle fusion|vesicle targeting endoplasmic reticulum membrane|integral to plasma membrane p.R160S(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 19 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11) AATTTCTCAGATTATCTTTGG 0.393000 27 182 0 0 0.002836 0 0 SYT5 6861 broad.mit.edu 37 19 55687098 55687098 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:55687098A>T ENST00000354308.3 - 5 888 c.519T>A c.(517-519)ttT>ttA p.F173L SYT5_ENST00000537500.1_Missense_Mutation_p.F173L|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.F170L NM_003180.2 NP_003171.2 O00445 SYT5_HUMAN synaptotagmin V 173 C2 1. energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity p.F173L(1) kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) AGGTCTCCCCAAAGTGAGGGT 0.622000 15 110 0 0 0.003163 0 0 RNASE11 122651 broad.mit.edu 37 14 21052309 21052309 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:21052309C>G ENST00000335950.4 - 3 787 c.325G>C c.(325-327)Gaa>Caa p.E109Q RNASE11_ENST00000432835.2_Missense_Mutation_p.E109Q|RNASE11_ENST00000555841.1_Missense_Mutation_p.E109Q|RNASE11_ENST00000398009.2_Missense_Mutation_p.E109Q|RNASE11_ENST00000398008.2_Missense_Mutation_p.E109Q|RNASE11_ENST00000553849.1_Missense_Mutation_p.E109Q NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 109 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.E109Q(1) endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) CCGTTTGCTTCTGAAACTTTT 0.468000 24 149 0 0 0.002780 0 0 SYPL2 284612 broad.mit.edu 37 1 110018245 110018245 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:110018245G>T ENST00000369872.3 + 3 388 c.172G>T c.(172-174)Ggg>Tgg p.G58W SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Missense_Mutation_p.G58W NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 58 MARVEL. integral to membrane|synaptic vesicle transporter activity p.G58W(1) breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) CTCCTACAGCGGGGAGACAGG 0.527000 5 34 0.00116845 0.00129221 0.001168 1 0 ADCY5 111 broad.mit.edu 37 3 123066664 123066664 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:123066664G>C ENST00000462833.1 - 3 2583 c.1371C>G c.(1369-1371)ttC>ttG p.F457L ADCY5_ENST00000491190.1_Missense_Mutation_p.F90L|ADCY5_ENST00000309879.5_Missense_Mutation_p.F107L NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 457 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding p.F457L(1) breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) AAATCTTATGGAACATCATAT 0.547000 36 265 0 0 0.004878 0 0 GPRC6A 222545 broad.mit.edu 37 6 117114013 117114013 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:117114013A>T ENST00000310357.3 - 6 2094 c.2073T>A c.(2071-2073)gaT>gaA p.D691E GPRC6A_ENST00000368549.3_Missense_Mutation_p.D620E|GPRC6A_ENST00000530250.1_Missense_Mutation_p.D516E NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 691 response to amino acid stimulus G-protein coupled receptor activity p.D691E(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) GTAATTTGGGATCAAAGCTGA 0.418000 22 66 0 0 0.001882 0 0 TTN 7273 broad.mit.edu 37 2 179659835 179659835 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179659835G>A ENST00000589042.1 - 7 1283 c.1059C>T c.(1057-1059)tcC>tcT p.S353S TTN_ENST00000342175.6_Silent_p.S353S|TTN_ENST00000460472.2_Silent_p.S353S|TTN_ENST00000342992.6_Silent_p.S353S|TTN_ENST00000591111.1_Silent_p.S353S|TTN_ENST00000359218.5_Silent_p.S353S|TTN_ENST00000360870.5_Silent_p.S353S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 353 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.S353S(6) 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) CCTCAGATGAGGAGGCCACGT 0.552000 11 87 0 0 0.001368 0 0 HMOX1 3162 broad.mit.edu 37 22 35779116 35779116 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:35779116C>A ENST00000216117.8 + 2 380 c.41C>A c.(40-42)tCa>tAa p.S14* NM_002133.2 NP_002124.1 P09601 HMOX1_HUMAN heme oxygenase (decycling) 1 14 angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response endoplasmic reticulum membrane|extracellular space|microsome enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity p.S14*(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 NADH(DB00157) CAGGATTTGTCAGAGGCCCTG 0.592000 11 68 0.00010058 0.000116266 0.001368 1 0 DAP3 7818 broad.mit.edu 37 1 155701746 155701746 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:155701746C>G ENST00000368336.5 + 11 1039 c.915C>G c.(913-915)gcC>gcG p.A305A DAP3_ENST00000421487.2_Silent_p.A271A|DAP3_ENST00000535183.1_Silent_p.A264A|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Silent_p.A305A|MSTO1_ENST00000538143.1_Intron NM_001199849.1|NM_004632.3 NP_001186778.1|NP_004623.1 P51398 RT29_HUMAN death associated protein 3 305 induction of apoptosis by extracellular signals mitochondrial ribosome|nucleolus|small ribosomal subunit protein binding p.A305A(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 24 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) ATGGAGGCGCCATTGTGTCGG 0.423000 6 25 0 0 0.001168 0 0 PLCL1 5334 broad.mit.edu 37 2 198949581 198949581 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:198949581G>T ENST00000428675.1 + 2 1738 c.1340G>T c.(1339-1341)aGt>aTt p.S447I PLCL1_ENST00000437704.2_Missense_Mutation_p.S349I NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 447 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.S349I(1)|p.S447I(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CTCGATGTAAGTGATGGTTCA 0.393000 4 79 0.00909568 0.00965236 0.009096 1 0 TMEM230 29058 broad.mit.edu 37 20 5081562 5081562 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:5081562C>A ENST00000379286.2 - 5 658 c.238G>T c.(238-240)Gtt>Ttt p.V80F TMEM230_ENST00000492419.1_5'UTR|TMEM230_ENST00000202834.7_Missense_Mutation_p.V80F|TMEM230_ENST00000379283.2_Missense_Mutation_p.V80F|TMEM230_ENST00000379279.2_Missense_Mutation_p.V80F|TMEM230_ENST00000379277.2_Missense_Mutation_p.V80F|TMEM230_ENST00000342308.5_Missense_Mutation_p.V143F NM_001009924.1 NP_001009924.1 Q96A57 CT030_HUMAN transmembrane protein 230 80 integral to membrane p.V80F(1)|p.V143F(1) AGCACTGGAACGGCCCGGTCT 0.478000 OREG0025754 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 41 2.44723e-14 3.68413e-14 0.004656 1 0 ZDBF2 57683 broad.mit.edu 37 2 207173670 207173670 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:207173670A>T ENST00000374423.3 + 5 4804 c.4418A>T c.(4417-4419)tAc>tTc p.Y1473F NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1473 nucleic acid binding|zinc ion binding p.Y1473F(2) endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 CAAGTGTCTTACAAAGAGGCA 0.373000 6 52 0 0 0.001984 0 0 SCG2 7857 broad.mit.edu 37 2 224462854 224462854 + Missense_Mutation SNP G G A rs149957287 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:224462854G>A ENST00000305409.2 - 2 1379 c.1147C>T c.(1147-1149)Cgg>Tgg p.R383W NM_003469.4 NP_003460.2 P13521 SCG2_HUMAN secretogranin II 383 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity p.R383W(1) NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TCAAGCTCCCGCTCCGGTTCC 0.483000 35 105 0 0 0.005524 0 0 LHX8 431707 broad.mit.edu 37 1 75608902 75608902 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:75608902C>A ENST00000294638.5 + 6 1153 c.489C>A c.(487-489)gcC>gcA p.A163A LHX8_ENST00000356261.3_Silent_p.A153A NM_001001933.1 NP_001001933.1 Q68G74 LHX8_HUMAN LIM homeobox 8 163 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A163A(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1) 30 CATGCTTTGCCTGCTTTTCCT 0.488000 21 83 4.26978e-12 6.20652e-12 0.003330 1 0 IGF2BP1 10642 broad.mit.edu 37 17 47075138 47075138 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:47075138G>A ENST00000290341.3 + 1 365 c.31G>A c.(31-33)Gag>Aag p.E11K IGF2BP1_ENST00000515586.1_3'UTR|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E11K NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 11 RRM 1. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity p.E11K(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CAACCTCAACGAGAGCGTGAC 0.637000 39 98 0 0 0.006230 0 0 OR2G2 81470 broad.mit.edu 37 1 247752598 247752598 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:247752598G>C ENST00000320065.1 + 1 937 c.937G>C c.(937-939)Gga>Cga p.G313R RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G313R(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 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) AAAGGCTCTGGGAGtaaatat 0.318000 33 118 0 0 0.008740 0 0 MUT 4594 broad.mit.edu 37 6 49403211 49403211 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:49403211C>T ENST00000274813.3 - 12 2209 c.2082G>A c.(2080-2082)cgG>cgA p.R694R NM_000255.3 NP_000246.2 P22033 MUTA_HUMAN methylmalonyl CoA mutase 694 B12-binding. R -> W (in MMAM; mut- and mut0). fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity p.R694R(1) endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 30 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAATATCTGGCCGTCCAAGGG 0.448000 4 56 0 0 0.009096 0 0 OR7A10 390892 broad.mit.edu 37 19 14952213 14952213 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:14952213T>C ENST00000248058.1 - 1 476 c.477A>G c.(475-477)caA>caG p.Q159Q NM_001005190.1 NP_001005190.1 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, member 10 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q159Q(1) NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1) 19 Ovarian(108;0.203) CCATTAAGCTTTGTAACATGG 0.453000 47 67 0 0 0.003610 0 0 ATP10D 57205 broad.mit.edu 37 4 47570994 47570994 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:47570994T>A ENST00000273859.3 + 16 3263 c.2994T>A c.(2992-2994)atT>atA p.I998I NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 998 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.I998I(1) NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CTGGACTCATTATCACTGGGA 0.512000 26 126 0 0 0.005443 0 0 CPS1 1373 broad.mit.edu 37 2 211504752 211504752 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:211504752G>A ENST00000233072.5 + 24 3124 c.2928G>A c.(2926-2928)atG>atA p.M976I CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000430249.2_Missense_Mutation_p.M982I|CPS1_ENST00000451903.2_Missense_Mutation_p.M525I NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 976 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.M976I(1)|p.M982I(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ACCATGGAATGATGGTGCTAG 0.294000 10 101 0 0 0.002450 0 0 SLC2A3 6515 broad.mit.edu 37 12 8085705 8085705 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:8085705C>A ENST00000075120.7 - 3 387 c.147G>T c.(145-147)aaG>aaT p.K49N NM_006931.2 NP_008862.1 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose transporter), member 3 49 carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity p.K49N(1) central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Kidney(36;0.0866) GGGCATTTCCCTTGTCCGTCA 0.463000 OREG0021656 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 62 1.7881e-09 2.43172e-09 0.008361 1 0 GNA13 10672 broad.mit.edu 37 17 63049634 63049634 + Nonsense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:63049634G>A ENST00000439174.2 - 2 741 c.496C>T c.(496-498)Cga>Tga p.R166* GNA13_ENST00000541118.1_Nonsense_Mutation_p.R71* NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 166 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding p.R166*(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 TGAAATTCTCGACGCCGGTCA 0.403000 21 95 0 0 0.010504 0 0 DNAH8 1769 broad.mit.edu 37 6 38775449 38775449 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:38775449C>T ENST00000359357.3 + 22 2817 c.2563C>T c.(2563-2565)Cgg>Tgg p.R855W DNAH8_ENST00000441566.1_Missense_Mutation_p.R855W|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1072W dynein, axonemal, heavy chain 8 p.R855W(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAAAGCTACACGGTTATCTCT 0.328000 20 108 0 0 0.010504 0 0 PRPF8 10594 broad.mit.edu 37 17 1557163 1557163 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:1557163G>A ENST00000572621.1 - 37 6400 c.6135C>T c.(6133-6135)cgC>cgT p.R2045R PRPF8_ENST00000575116.1_5'UTR|PRPF8_ENST00000304992.6_Silent_p.R2045R Q6P2Q9 PRP8_HUMAN pre-mRNA processing factor 8 2045 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding p.R2045R(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) TGTTGACAGTGCGAGTCTGTG 0.547000 70 197 0 0 0.003610 0 0 KCNA1 3736 broad.mit.edu 37 12 5020837 5020837 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:5020837C>T ENST00000382545.3 + 2 1400 c.293C>T c.(292-294)tCc>tTc p.S98F KCNA1_ENST00000543874.2_Intron NM_000217.2 NP_000208.2 Q09470 KCNA1_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) 98 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity p.S98F(1) NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TACTACCAGTCCGGCGGCCGC 0.602000 6 29 0 0 0.001368 0 0 OR56A3 390083 broad.mit.edu 37 11 5968750 5968750 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:5968750T>A ENST00000329564.6 + 1 181 c.174T>A c.(172-174)tcT>tcA p.S58S NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S58S(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGAGGCCTCTCTGCACCAGC 0.617000 5 138 0 0 0.001168 0 0 TBR1 10716 broad.mit.edu 37 2 162274732 162274732 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:162274732C>A ENST00000389554.3 + 3 1185 c.868C>A c.(868-870)Ccg>Acg p.P290T TBR1_ENST00000410035.1_Missense_Mutation_p.P3T NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 290 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.P290S(1)|p.P290T(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CTATATGCATCCGGATTCCCC 0.463000 17 63 2.94398e-08 3.84739e-08 0.007413 1 0 TCTE1 202500 broad.mit.edu 37 6 44255481 44255481 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:44255481C>A ENST00000371505.4 - 2 204 c.82G>T c.(82-84)Gga>Tga p.G28* TCTE1_ENST00000371503.3_De_novo_Start_OutOfFrame|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 28 p.G28*(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GAAGTGTGTCCTCCAGTGGAG 0.552000 13 70 7.03913e-09 9.37585e-09 0.001368 1 0 CPT1C 126129 broad.mit.edu 37 19 50214055 50214055 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:50214055C>T ENST00000392518.4 + 16 2179 c.1807C>T c.(1807-1809)Cgg>Tgg p.R603W CPT1C_ENST00000598293.1_Missense_Mutation_p.R603W|CPT1C_ENST00000405931.2_Missense_Mutation_p.R592W|CPT1C_ENST00000323446.5_Missense_Mutation_p.R603W|CPT1C_ENST00000354199.5_Missense_Mutation_p.R603W NM_001199752.1 NP_001186681.1 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C 603 fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity p.R603W(1) breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GGAGACGGTGCGGTCTTGCAC 0.577000 4 68 0 0 0.009096 0 0 IGSF1 3547 broad.mit.edu 37 X 130409258 130409258 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:130409258A>C ENST00000370904.1 - 23 4070 c.3160T>G c.(3160-3162)Tta>Gta p.L1054V IGSF1_ENST00000370910.1_Missense_Mutation_p.L1054V|IGSF1_ENST00000361420.3_Missense_Mutation_p.L1063V|IGSF1_ENST00000370903.3_Missense_Mutation_p.L1068V Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 1063 Ig-like C2-type 10. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding p.L1063V(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 TTGGGGAGTAAGCCTGGAAGA 0.517000 7 150 0 0 0.003080 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74648512 74648512 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:74648512C>G ENST00000354431.4 - 3 474 c.283G>C c.(283-285)Gga>Cga p.G95R LRRIQ3_ENST00000395089.1_Missense_Mutation_p.G95R|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.G95R|LRRIQ3_ENST00000370909.2_Intron NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 95 p.G95R(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTCTTCAATCCATTCCAAAAT 0.308000 6 28 0 0 0.001168 0 0 VPS13B 157680 broad.mit.edu 37 8 100832227 100832227 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:100832227G>T ENST00000358544.2 + 49 9057 c.8946G>T c.(8944-8946)ttG>ttT p.L2982F VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L2957F NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2982 protein transport p.L2957F(1)|p.L2982F(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GAACTTTGTTGATAGAACTTC 0.443000 19 153 2.39187e-15 3.66326e-15 0.008871 1 0 WIPI2 26100 broad.mit.edu 37 7 5239290 5239290 + Splice_Site SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:5239290G>A ENST00000288828.4 + 3 443 c.e3+1 WIPI2_ENST00000401525.3_Splice_Site|WIPI2_ENST00000485854.1_Splice_Site|WIPI2_ENST00000404704.3_Splice_Site|WIPI2_ENST00000382384.2_Splice_Site NM_001033518.1|NM_001278299.1|NM_015610.3 NP_001028690.1|NP_001265228.1|NP_056425.1 Q9Y4P8 WIPI2_HUMAN WD repeat domain, phosphoinositide interacting 2 autophagic vacuole assembly cytosol|PAS complex|pre-autophagosomal structure membrane phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding p.?(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3) 16 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14) TATGAATGCAGTAAGTGTTTG 0.363000 5 174 0 0 0.001168 0 0 FCRL5 83416 broad.mit.edu 37 1 157485512 157485512 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:157485512G>T ENST00000361835.3 - 17 3044 c.2887C>A c.(2887-2889)Ccg>Acg p.P963T FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.P963T NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 963 integral to membrane|plasma membrane receptor activity p.P963K(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CCGGAAACCGGGGTTGACGCC 0.587000 39 511 1.39843e-22 2.31324e-22 0.003610 1 0 OR2A5 393046 broad.mit.edu 37 7 143747932 143747932 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:143747932C>T ENST00000408906.2 + 1 472 c.438C>T c.(436-438)gtC>gtT p.V146V NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, member 5 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V146V(1) cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TCCTGGCTGTCACTTCTTGGG 0.522000 13 307 0 0 0.001855 0 0 SIN3B 23309 broad.mit.edu 37 19 16973310 16973310 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:16973310G>T ENST00000379803.1 + 9 1220 c.1206G>T c.(1204-1206)cgG>cgT p.R402R SIN3B_ENST00000248054.5_Silent_p.R402R NM_015260.2 NP_056075.1 O75182 SIN3B_HUMAN SIN3 transcription regulator family member B 402 Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity). cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding p.R402R(1) endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 26 CCAGCTACCGGGCACTCCCCA 0.582000 9 29 0.000442599 0.000499726 0.006214 1 0 MAGEC1 9947 broad.mit.edu 37 X 140996176 140996176 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:140996176C>A ENST00000285879.4 + 4 3272 c.2986C>A c.(2986-2988)Cag>Aag p.Q996K MAGEC1_ENST00000406005.2_Missense_Mutation_p.Q63K NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 996 MAGE. protein binding p.Q996K(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GGGCATGTCCCAGAACCGCCT 0.502000 HNSCC(15;0.026) 48 109 2.64894e-19 4.19596e-19 0.003610 1 0 MYH3 4621 broad.mit.edu 37 17 10558331 10558331 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:10558331G>A ENST00000583535.1 - 3 138 c.51C>T c.(49-51)ctC>ctT p.L17L MYH3_ENST00000226209.7_Silent_p.L17L NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 17 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.L17L(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 CTGACTTCCGGAGGAAAGGAG 0.537000 17 193 0 0 0.008871 0 0 FAM188A 80013 broad.mit.edu 37 10 15821093 15821093 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:15821093G>A ENST00000378036.1 - 6 1527 c.351C>T c.(349-351)ccC>ccT p.P117P FAM188A_ENST00000477891.1_5'UTR|FAM188A_ENST00000277632.3_Silent_p.P412P Q9H8M7 F188A_HUMAN family with sequence similarity 188, member A 412 apoptosis nucleus calcium ion binding p.P412P(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2) 22 TCTGTAGCATGGGATCTTCAA 0.428000 14 40 0 0 0.002450 0 0 NCOR2 9612 broad.mit.edu 37 12 124862883 124862883 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:124862883C>A ENST00000356219.3 - 19 2222 c.2067G>T c.(2065-2067)gcG>gcT p.A689A NCOR2_ENST00000397355.1_Silent_p.A689A|NCOR2_ENST00000404621.1_Silent_p.A688A|NCOR2_ENST00000405201.1_Silent_p.A689A|NCOR2_ENST00000404121.2_Silent_p.A259A|NCOR2_ENST00000429285.2_Silent_p.A688A NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 689 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.A689A(2) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CCTCGCTGGCCGCCGCCGGCG 0.657000 7 30 0.00621372 0.00663753 0.006214 1 0 ZNF33A 7581 broad.mit.edu 37 10 38343873 38343873 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:38343873A>G ENST00000374618.3 + 5 999 c.821A>G c.(820-822)cAc>cGc p.H274R ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.H273R|ZNF33A_ENST00000458705.2_Missense_Mutation_p.H273R|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H280R NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2 NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A 273 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H273R(1) cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 AGGGACAATCACTATGAATTT 0.388000 32 71 0 0 0.002445 0 0 MARCH1 55016 broad.mit.edu 37 4 164534642 164534642 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:164534642G>T ENST00000339875.5 - 1 44 c.15C>A c.(13-15)caC>caA p.H5Q MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000503008.1_Intron NM_017923.3 NP_060393.1 Q8TCQ1 MARH1_HUMAN membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase 0 Responsible for low stability (By similarity). antigen processing and presentation of peptide antigen via MHC class II|immune response cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding p.H5Q(1) endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TACAACAAACGTGGCTGCTGG 0.348000 17 31 3.32936e-07 4.16599e-07 0.006122 1 0 ABCA13 154664 broad.mit.edu 37 7 48390351 48390351 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:48390351T>A ENST00000435803.1 + 30 10340 c.10316T>A c.(10315-10317)cTg>cAg p.L3439Q NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3439 transport integral to membrane ATP binding|ATPase activity p.L3439Q(1)|p.L3384Q(1) breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTCCAGGCTCTGCAGTCTGTC 0.488000 22 93 0 0 0.002299 0 0 COL4A4 1286 broad.mit.edu 37 2 227983373 227983373 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:227983373T>A ENST00000396625.3 - 7 684 c.477A>T c.(475-477)ccA>ccT p.P159P COL4A4_ENST00000329662.7_Silent_p.P159P NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 159 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding p.P159P(1) breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GGGGGCCTCCTGGGCCAAGAG 0.532000 8 136 0 0 0.003080 0 0 POLR3B 55703 broad.mit.edu 37 12 106890686 106890686 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:106890686G>A ENST00000228347.4 + 25 3196 c.2974G>A c.(2974-2976)Ggc>Agc p.G992S POLR3B_ENST00000539066.1_Missense_Mutation_p.G934S|RP11-144F15.1_ENST00000551505.1_Intron NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 992 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.G992S(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TGTTACATCCGGCATCACAGG 0.428000 21 153 0 0 0.001882 0 0 SLC2A10 81031 broad.mit.edu 37 20 45353679 45353679 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:45353679G>T ENST00000359271.2 + 2 254 c.e2-1 NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity p.?(1) central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) TTGTTTTTTAGGCCACTCCCC 0.493000 14 136 0.00185496 0.00204445 0.001855 1 0 CROCC 9696 broad.mit.edu 37 1 17279852 17279852 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:17279852A>G ENST00000375541.5 + 21 3131 c.3062A>G c.(3061-3063)cAg>cGg p.Q1021R CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 1021 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.Q1021R(1) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGTCAGCTGCAGCGTGAGCAG 0.692000 4 5 0 0 0.000978 0 0 CNKSR1 10256 broad.mit.edu 37 1 26509068 26509068 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:26509068G>T ENST00000361530.6 + 6 762 c.617G>T c.(616-618)aGt>aTt p.S206I CNKSR1_ENST00000531191.1_5'UTR|CNKSR1_ENST00000374253.5_Missense_Mutation_p.S206I|CNKSR1_ENST00000480348.2_3'UTR Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 206 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging p.S206I(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CAGCTGGACAGTCCATTGGTG 0.617000 13 25 6.31663e-08 8.13454e-08 0.003163 1 0 KDELC2 143888 broad.mit.edu 37 11 108352829 108352829 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:108352829T>C ENST00000434945.2 - 3 939 c.637A>G c.(637-639)Aga>Gga p.R213G KDELC2_ENST00000375648.1_Missense_Mutation_p.R213G|KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000323468.5_Missense_Mutation_p.R269G Q7Z4H8 KDEL2_HUMAN KDEL (Lys-Asp-Glu-Leu) containing 2 269 endoplasmic reticulum lumen p.R269G(1) breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14) ACAACATCTCTTGAATCCAGA 0.448000 11 196 0 0 0.001368 0 0 SLC35G3 146861 broad.mit.edu 37 17 33521019 33521019 + Missense_Mutation SNP C C A rs148354465 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:33521019C>A ENST00000297307.5 - 1 393 c.308G>T c.(307-309)cGg>cTg p.R103L NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 103 DUF6 1. integral to membrane p.R103L(1) GAAGAAGGCCCGGCTTCGGAT 0.592000 35 204 1.36615e-20 2.19988e-20 0.002836 1 0 CHD9 80205 broad.mit.edu 37 16 53338272 53338272 + Silent SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:53338272T>G ENST00000566029.1 + 31 6563 c.6354T>G c.(6352-6354)tcT>tcG p.S2118S CHD9_ENST00000564845.1_Silent_p.S2118S|CHD9_ENST00000447540.1_Silent_p.S2118S|CHD9_ENST00000398510.3_Silent_p.S2118S Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2118 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding p.S2118S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) ACCCAGCTTCTAAGAAACCAA 0.448000 5 20 0 0 0.000602 0 0 RASSF2 9770 broad.mit.edu 37 20 4770302 4770302 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:4770302G>T ENST00000379400.3 - 8 774 c.579C>A c.(577-579)gtC>gtA p.V193V RASSF2_ENST00000379376.2_Silent_p.V193V|RASSF2_ENST00000478553.1_5'UTR NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 193 Ras-associating. cell cycle|signal transduction nucleus protein binding p.V193V(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 TGTTGATGCGGACGTTGGTGA 0.542000 15 49 6.31663e-08 8.13454e-08 0.003163 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33891834 33891834 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:33891834C>A ENST00000504830.1 - 1 463 c.e1+1 ADAMTS12_ENST00000352040.3_Splice_Site|ADAMTS12_ENST00000515401.1_Splice_Site NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.?(2) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GAGTCACTAACCTTGCCTCCT 0.532000 HNSCC(64;0.19) 6 210 3.59834e-05 4.2147e-05 0.001168 1 0 ADAM7 8756 broad.mit.edu 37 8 24324541 24324541 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:24324541C>T ENST00000441335.2 + 6 798 c.619C>T c.(619-621)Ctt>Ttt p.L207F ADAM7_ENST00000380789.1_Intron|ADAM7_ENST00000175238.6_Intron|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 0 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) AATGAAACACCTTTTATTTTC 0.323000 27 42 0 0 0.005443 0 0 ANK3 288 broad.mit.edu 37 10 62038579 62038579 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:62038579C>A ENST00000280772.1 - 4 558 c.367G>T c.(367-369)Gta>Tta p.V123L ANK3_ENST00000503366.1_Missense_Mutation_p.V106L|ANK3_ENST00000373827.2_Missense_Mutation_p.V117L NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 123 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.V123L(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AAGACTTTTACCACCTCTGCT 0.388000 11 139 1.08611e-07 1.37858e-07 0.000978 1 0 USH2A 7399 broad.mit.edu 37 1 216166438 216166438 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:216166438G>A ENST00000366943.2 - 35 7115 c.6729C>T c.(6727-6729)ggC>ggT p.G2243G USH2A_ENST00000307340.3_Silent_p.G2243G O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2243 Fibronectin type-III 9. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.G2243G(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGGCTGGCACGCCTTCGGGTA 0.507000 HNSCC(13;0.011) OREG0014251 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 298 0 0 0.003755 0 0 SLC12A1 6557 broad.mit.edu 37 15 48537080 48537080 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:48537080C>A ENST00000396577.3 + 11 1646 c.1431C>A c.(1429-1431)taC>taA p.Y477* SLC12A1_ENST00000558405.1_Nonsense_Mutation_p.Y477*|SLC12A1_ENST00000380993.3_Nonsense_Mutation_p.Y477* NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 477 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity p.Y477*(2) NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) CATGTCAGTACGGGCTGATGA 0.383000 17 45 1.02788e-11 1.49189e-11 0.004990 1 0 CCM2 83605 broad.mit.edu 37 7 45108125 45108125 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:45108125G>A ENST00000475551.1 + 5 1298 c.538G>A c.(538-540)Gca>Aca p.A180T CCM2_ENST00000541586.1_Missense_Mutation_p.A128T|CCM2_ENST00000474617.1_Intron|CCM2_ENST00000461377.1_3'UTR|CCM2_ENST00000544363.1_Intron|CCM2_ENST00000381112.3_Missense_Mutation_p.A207T|CCM2_ENST00000258781.6_Missense_Mutation_p.A186T Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 186 PID. endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding p.A207T(1) NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GTCGGAGAGTGCAGTTGGGCC 0.612000 4 91 0 0 0.000602 0 0 PGPEP1L 145814 broad.mit.edu 37 15 99512843 99512843 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:99512843G>A ENST00000535714.1 - 4 825 c.20C>T c.(19-21)gCg>gTg p.A7V PGPEP1L_ENST00000378919.6_Missense_Mutation_p.A61V|RP11-654A16.3_ENST00000559468.1_RNA NM_001167902.1 NP_001161374.1 A6NFU8 PGPIL_HUMAN pyroglutamyl-peptidase I-like 61 proteolysis cysteine-type peptidase activity p.A61V(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1) 14 CAGAATGATCGCCTTGGCGGC 0.622000 19 98 0 0 0.002299 0 0 ASCC3 10973 broad.mit.edu 37 6 101053528 101053528 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:101053528T>A ENST00000369162.2 - 33 5437 c.5093A>T c.(5092-5094)cAa>cTa p.Q1698L NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 1698 Helicase C-terminal 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding p.Q1698L(1) breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) AGCTTTGCCTTGGTCATCGAA 0.373000 8 32 0 0 0.003080 0 0 ABCB4 5244 broad.mit.edu 37 7 87032462 87032462 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:87032462C>T ENST00000265723.4 - 27 3754 c.3643G>A c.(3643-3645)Gaa>Aaa p.E1215K ABCB4_ENST00000358400.3_Missense_Mutation_p.E1161K|ABCB4_ENST00000545634.1_Missense_Mutation_p.E1208K|ABCB4_ENST00000453593.1_Missense_Mutation_p.E1161K|ABCB4_ENST00000359206.3_Missense_Mutation_p.E1208K NM_000443.3|NM_018849.2 NP_000434.1|NP_061337.1 P21439 MDR3_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 4 1215 ABC transporter 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity p.E1208K(1) breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TTTTCACTTTCAGTATCCAGA 0.428000 46 218 0 0 0.003610 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293440 71293440 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:71293440G>A ENST00000398530.1 - 1 481 c.444C>T c.(442-444)gtC>gtT p.V148V KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron NM_001005405.2 NP_001005405.1 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 148 6 X 4 AA repeats of C-C-X-P. keratin filament p.V148V(1) endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 AGCACACGGGGACAcagcagc 0.557000 8 78 0 0 0.001855 0 0 CHRDL1 91851 broad.mit.edu 37 X 109931883 109931883 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:109931883G>A ENST00000218054.4 - 9 1120 c.924C>T c.(922-924)tgC>tgT p.C308C CHRDL1_ENST00000394797.4_Silent_p.C308C|CHRDL1_ENST00000372045.1_Silent_p.C302C|CHRDL1_ENST00000434224.1_Silent_p.C229C|CHRDL1_ENST00000482160.1_Silent_p.C229C|CHRDL1_ENST00000444321.2_Silent_p.C308C|CHRDL1_ENST00000372042.1_Silent_p.C309C NM_001143981.1|NM_001143982.1|NM_145234.3 NP_001137453.1|NP_001137454.1|NP_660277.2 Q9BU40 CRDL1_HUMAN chordin-like 1 302 VWFC 3. BMP signaling pathway|cell differentiation|nervous system development|ossification extracellular region p.C308C(1) endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1) 31 GAGGATACTTGCAGGGGTATC 0.463000 43 135 0 0 0.008740 0 0 VN1R4 317703 broad.mit.edu 37 19 53770147 53770147 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:53770147G>T ENST00000311170.4 - 1 825 c.772C>A c.(772-774)Ctt>Att p.L258I NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 258 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity p.L258I(1) central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) TTATCCAAAAGAGCCATACAA 0.478000 HNSCC(26;0.072) 21 48 2.89027e-11 4.13321e-11 0.002299 1 0 SDK1 221935 broad.mit.edu 37 7 4153888 4153888 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:4153888G>T ENST00000404826.2 + 25 3944 c.3805G>T c.(3805-3807)Ggc>Tgc p.G1269C SDK1_ENST00000389531.3_Missense_Mutation_p.G1269C NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1269 Fibronectin type-III 6. cell adhesion integral to membrane p.G1269C(1) NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGTGGTGCGGGGCCGGACGCG 0.637000 6 18 2.0095e-06 2.46056e-06 0.001984 1 0 PTH1R 5745 broad.mit.edu 37 3 46945140 46945140 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:46945140C>A ENST00000449590.1 + 16 1979 c.1776C>A c.(1774-1776)gtC>gtA p.V592V PTH1R_ENST00000430002.2_Silent_p.V592V|PTH1R_ENST00000418619.1_Silent_p.V592V|PTH1R_ENST00000313049.5_Silent_p.V592V NM_000316.2 NP_000307.1 Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 592 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association p.V592V(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 GGGAGACAGTCATGTGACCAG 0.612000 22 107 3.6726e-16 5.6515e-16 0.003954 1 0 MAB21L2 10586 broad.mit.edu 37 4 151504393 151504393 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:151504393C>A ENST00000317605.4 + 1 1317 c.212C>A c.(211-213)cCc>cAc p.P71H LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 71 nervous system development nucleus p.P71H(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GTCATTTCGCCCACCGAATTT 0.597000 23 34 2.44723e-14 3.68413e-14 0.004656 1 0 EDARADD 128178 broad.mit.edu 37 1 236631557 236631557 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:236631557C>T ENST00000359362.5 + 5 430 c.216C>T c.(214-216)agC>agT p.S72S EDARADD_ENST00000334232.4_Silent_p.S82S NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 82 cell differentiation|signal transduction cytoplasm p.S82S(1) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) TTCCAGATAGCACTGGAGATC 0.378000 29 114 0 0 0.002096 0 0 PRDM2 7799 broad.mit.edu 37 1 14107413 14107413 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:14107413G>A ENST00000235372.7 + 8 3979 c.3123G>A c.(3121-3123)atG>atA p.M1041I PRDM2_ENST00000413440.1_Missense_Mutation_p.M840I|PRDM2_ENST00000343137.4_Missense_Mutation_p.M840I|PRDM2_ENST00000311066.5_Missense_Mutation_p.M1041I|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1041 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.M1041I(1) endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) AGCCCCTGATGTCTGCCGCCT 0.562000 11 48 0 0 0.002450 0 0 PNLIPRP2 5408 broad.mit.edu 37 10 118383456 118383456 + RNA SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:118383456G>T ENST00000537242.1 + 0 82 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity p.?(2) endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GCTCACCCTAGGAAAAGAGTC 0.493000 15 49 2.32078e-09 3.14293e-09 0.003163 1 0 SGCZ 137868 broad.mit.edu 37 8 14181709 14181709 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:14181709C>A ENST00000382080.1 - 3 954 c.239G>T c.(238-240)gGt>gTt p.G80V SGCZ_ENST00000421524.2_Intron NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 67 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma p.G80F(1) NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) ATTTCCCATACCATCCTACAA 0.363000 6 84 0.00116845 0.00129221 0.001168 1 0 OR8D2 283160 broad.mit.edu 37 11 124189358 124189358 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:124189358A>G ENST00000357438.2 - 1 826 c.736T>C c.(736-738)Ttg>Ctg p.L246L NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L246L(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) CCCACAGCCAAGAGATGGGAG 0.438000 4 285 0 0 0.009096 0 0 RNASE11 122651 broad.mit.edu 37 14 21052324 21052324 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:21052324A>T ENST00000335950.4 - 3 772 c.310T>A c.(310-312)Tgg>Agg p.W104R RNASE11_ENST00000432835.2_Missense_Mutation_p.W104R|RNASE11_ENST00000555841.1_Missense_Mutation_p.W104R|RNASE11_ENST00000398009.2_Missense_Mutation_p.W104R|RNASE11_ENST00000398008.2_Missense_Mutation_p.W104R|RNASE11_ENST00000553849.1_Missense_Mutation_p.W104R NM_145250.3 NP_660293.1 Q8TAA1 RNS11_HUMAN ribonuclease, RNase A family, 11 (non-active) 104 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.W104R(1) endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) ACTTTTCTCCAGACTGTCATG 0.468000 29 177 0 0 0.009535 0 0 CSMD1 64478 broad.mit.edu 37 8 2857502 2857502 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:2857502A>G ENST00000520002.1 - 54 8739 c.8184T>C c.(8182-8184)tcT>tcC p.S2728S CSMD1_ENST00000602723.1_Silent_p.S2670S|CSMD1_ENST00000537824.1_Silent_p.S2727S|CSMD1_ENST00000602557.1_Silent_p.S2728S|CSMD1_ENST00000542608.1_Silent_p.S2669S|CSMD1_ENST00000400186.3_Silent_p.S2670S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2728 Sushi 18. integral to membrane p.S2456S(1)|p.S2727S(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCGTTTGTCCAGACCACTTGT 0.473000 8 277 0 0 0.006214 0 0 ACCSL 390110 broad.mit.edu 37 11 44074297 44074297 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:44074297C>A ENST00000378832.1 + 6 914 c.858C>A c.(856-858)caC>caA p.H286Q NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 286 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups p.H286Q(1) central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 TTCCTGTCCACCTGGAGAGTG 0.542000 251 253 8.08517e-138 1.41966e-137 0.003610 1 0 TDRD1 56165 broad.mit.edu 37 10 115977387 115977387 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:115977387G>A ENST00000251864.2 + 17 2449 c.2296G>A c.(2296-2298)Gga>Aga p.G766R TDRD1_ENST00000369282.1_Missense_Mutation_p.G766R|TDRD1_ENST00000422662.1_Missense_Mutation_p.G370R|TDRD1_ENST00000369281.2_Missense_Mutation_p.G709R|TDRD1_ENST00000369280.1_Missense_Mutation_p.G766R NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 766 Tudor 3. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding p.G766R(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GGCAGAGATAGGACAACCTTG 0.348000 14 38 0 0 0.003163 0 0 SUV420H1 51111 broad.mit.edu 37 11 67925826 67925826 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:67925826C>A ENST00000304363.4 - 11 2340 c.1987G>T c.(1987-1989)Gtg>Ttg p.V663L NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 663 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.V663L(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 GTGTAGCTCACAGGCACGCCC 0.493000 7 100 0.00307968 0.00332263 0.003080 1 0 CROCCP2 84809 broad.mit.edu 37 1 16946407 16946407 + RNA SNP T T G rs10796418 by1000genomes TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:16946407T>G ENST00000412962.1 - 0 1112 AGCAATCTCCTCACTCAGCTG 0.672000 4 17 0 0 0.000602 0 0 HDAC4 9759 broad.mit.edu 37 2 239974820 239974820 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:239974820C>A ENST00000345617.3 - 27 4019 c.3228G>T c.(3226-3228)gaG>gaT p.E1076D HDAC4_ENST00000543185.1_Missense_Mutation_p.E660D NM_006037.3 NP_006028.2 P56524 HDAC4_HUMAN histone deacetylase 4 1076 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding p.E1076D(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) CTTCCATGGGCTCCTCATCTG 0.567000 17 79 1.99824e-07 2.51659e-07 0.004990 1 0 ZBTB46 140685 broad.mit.edu 37 20 62421331 62421331 + Silent SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:62421331A>T ENST00000245663.4 - 2 930 c.780T>A c.(778-780)gcT>gcA p.A260A ZBTB46_ENST00000395104.1_Silent_p.A260A|ZBTB46_ENST00000302995.2_Silent_p.A260A NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 260 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.A260A(1) endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) AGGCATCACCAGCACTCTGCT 0.577000 12 114 0 0 0.001368 0 0 PI4KAP1 728233 broad.mit.edu 37 22 20386732 20386732 + RNA SNP G G A rs143107404 by1000genomes TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:20386732G>A ENST00000430523.3 - 0 1780 NR_003563.1 GGGCAAGGACGAGTGGTCTGT 0.572000 9 13 0 0 0.004482 0 0 UGT2B28 54490 broad.mit.edu 37 4 70160485 70160485 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:70160485C>T ENST00000335568.5 + 6 1550 c.1548C>T c.(1546-1548)ttC>ttT p.F516F UGT2B28_ENST00000511240.1_3'UTR NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 516 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.F516F(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TGTTTTGTTTCTGGAAGTTTG 0.413000 6 102 0 0 0.003080 0 0 FOXD2 2306 broad.mit.edu 37 1 47904171 47904171 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:47904171C>T ENST00000334793.5 + 1 2483 c.364C>T c.(364-366)Cgg>Tgg p.R122W NM_004474.3 NP_004465.3 O60548 FOXD2_HUMAN forkhead box D2 122 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.R122W(1) lung(4) 4 READ - Rectum adenocarcinoma(2;0.0908) cgcggcgACGCGGAGCCCGCT 0.781000 4 19 0 0 0.000602 0 0 COL6A1 1291 broad.mit.edu 37 21 47421898 47421898 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:47421898G>A ENST00000361866.3 + 31 2094 c.1980G>A c.(1978-1980)gcG>gcA p.A660A COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 660 C-terminal globular domain.|VWFA 2. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding p.A660A(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) AGTCGTACGCGGGTGTGGTGC 0.652000 3 19 0 0 0.000602 0 0 ACTN2 88 broad.mit.edu 37 1 236912564 236912564 + Splice_Site SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:236912564G>A ENST00000366578.4 + 14 1822 c.1656_splice c.e14+1 p.Q552_splice ACTN2_ENST00000542672.1_Splice_Site_p.Q552_splice|ACTN2_ENST00000546208.1_Splice_Site_p.Q46_splice NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 552 focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding p.Q552Q(1) endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) AGGAGATCCAGGTAATGGAAC 0.423000 4 82 0 0 0.009096 0 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32125471 32125471 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:32125471G>C ENST00000422437.1 + 6 790 c.599G>C c.(598-600)gGg>gCg p.G200A PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375137.2_Missense_Mutation_p.G200A|PPT2_ENST00000361568.2_Missense_Mutation_p.G206A|PPT2_ENST00000395523.1_Missense_Mutation_p.G200A|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.G200A|PPT2_ENST00000324816.6_Missense_Mutation_p.G200A|PPT2_ENST00000437001.2_Missense_Mutation_p.G77A|PPT2_ENST00000375143.2_Missense_Mutation_p.G200A p.G206A(1) CTGATCAATGGGGAAAGAGAC 0.507000 3 77 0 0 0.009096 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232626781 232626781 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:232626781C>G ENST00000366630.1 - 4 2003 c.1645G>C c.(1645-1647)Gaa>Caa p.E549Q SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E549Q Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 549 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.E549Q(1) NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ATAGCATCTTCTAAAATTGCT 0.423000 14 43 0 0 0.004990 0 0 SRCIN1 80725 broad.mit.edu 37 17 36708820 36708820 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:36708820C>A ENST00000264659.7 - 13 2567 c.2343G>T c.(2341-2343)ccG>ccT p.P781P SRCIN1_ENST00000578925.1_Silent_p.P815P|SRCIN1_ENST00000398579.4_5'UTR NM_025248.2 NP_079524.2 Q9C0H9 SRCN1_HUMAN SRC kinase signaling inhibitor 1 653 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding p.P781P(1) endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 TCTGCAGGCCCGGGAAGTGAG 0.647000 3 19 0.004672 0.00501827 0.004672 1 0 DNAH8 1769 broad.mit.edu 37 6 38850818 38850818 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:38850818A>G ENST00000359357.3 + 52 7594 c.7340A>G c.(7339-7341)aAa>aGa p.K2447R DNAH8_ENST00000441566.1_Missense_Mutation_p.K2411R|DNAH8_ENST00000449981.2_Missense_Mutation_p.K2664R dynein, axonemal, heavy chain 8 p.K2447R(2) NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACCATTGCAAAACAACATAAA 0.323000 4 107 0 0 0.000602 0 0 OR4A16 81327 broad.mit.edu 37 11 55111106 55111106 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55111106G>T ENST00000314721.2 + 1 480 c.430G>T c.(430-432)Gtg>Ttg p.V144L NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V144L(1) NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 CCTTCTGTTGGTGGTGGCCAT 0.463000 39 163 7.63091e-17 1.18176e-16 0.007835 1 0 EPB41L3 23136 broad.mit.edu 37 18 5489113 5489113 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:5489113C>A ENST00000341928.2 - 2 410 c.70G>T c.(70-72)Ggg>Tgg p.G24W EPB41L3_ENST00000400111.3_Missense_Mutation_p.G24W|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G24W|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G24W|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G24W NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 24 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity p.G24W(1) breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 ccctgcgcccccgccgccTCC 0.692000 12 21 9.16793e-09 1.21281e-08 0.004990 1 0 ERBB4 2066 broad.mit.edu 37 2 212248650 212248650 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:212248650G>A ENST00000342788.4 - 28 3927 c.3617C>T c.(3616-3618)cCa>cTa p.P1206L ERBB4_ENST00000436443.1_Missense_Mutation_p.P1190L|ERBB4_ENST00000402597.1_Missense_Mutation_p.P1196L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 1206 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.P1206L(1) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GAGGTACAGTGGCTCATTCAC 0.463000 TSP Lung(8;0.080) 40 321 0 0 0.007835 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200817337 200817337 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:200817337A>G ENST00000358823.2 + 11 1710 c.1440A>G c.(1438-1440)gaA>gaG p.E480E CAMSAP2_ENST00000413307.2_Silent_p.E464E|CAMSAP2_ENST00000236925.4_Silent_p.E491E NM_203459.1 NP_982284.1 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein family, member 2 491 cytoplasm|microtubule protein binding p.E480E(1) TAAATGGAGAAGAGGAAGCAG 0.353000 12 72 0 0 0.001855 0 0 LAMA2 3908 broad.mit.edu 37 6 129571289 129571289 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:129571289C>A ENST00000421865.2 + 13 1864 c.1815C>A c.(1813-1815)acC>acA p.T605T NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 605 Laminin IV type A 1. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.T605K(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGACATTTACCATATCATATG 0.398000 56 100 1.53582e-20 2.46494e-20 0.003610 1 0 TRIM51HP 440041 broad.mit.edu 37 11 55065640 55065640 + RNA SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55065640G>A ENST00000526016.1 - 0 68 NR_038174.2 AAACAGGGCCGGCAAAAGCTG 0.493000 31 51 0 0 0.004289 0 0 CSMD3 114788 broad.mit.edu 37 8 114111174 114111174 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:114111174C>T ENST00000297405.5 - 5 972 c.728G>A c.(727-729)gGa>gAa p.G243E CSMD3_ENST00000343508.3_Missense_Mutation_p.G203E|CSMD3_ENST00000352409.3_Missense_Mutation_p.G243E|CSMD3_ENST00000455883.2_Missense_Mutation_p.G243E|CSMD3_ENST00000519485.1_5'UTR NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 243 CUB 2. integral to membrane|plasma membrane p.G203E(1)|p.G243E(1) 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 TCTCATTGTTCCTCCACAAGC 0.388000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 56 0 0 0.008291 0 0 HP1BP3 50809 broad.mit.edu 37 1 21071530 21071530 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:21071530C>A ENST00000375003.2 - 9 2466 c.966G>T c.(964-966)caG>caT p.Q322H HP1BP3_ENST00000312239.5_Missense_Mutation_p.Q474H Q5SSJ5 HP1B3_HUMAN heterochromatin protein 1, binding protein 3 474 H15 2. nucleosome assembly nucleosome|nucleus DNA binding p.Q474H(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) TGGACCCTCTCTGCTTCACAG 0.537000 28 169 3.99451e-17 6.20587e-17 0.009535 1 0 MAST3 23031 broad.mit.edu 37 19 18245766 18245766 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:18245766A>T ENST00000262811.5 + 16 1757 c.1757A>T c.(1756-1758)gAg>gTg p.E586V NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 586 Protein kinase. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.E608V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GATACCCCCGAGGAACTCTTC 0.632000 8 72 0 0 0.006214 0 0 MOV10 4343 broad.mit.edu 37 1 113232654 113232654 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:113232654A>T ENST00000369644.1 + 6 1631 c.602A>T c.(601-603)aAg>aTg p.K201M MOV10_ENST00000369645.1_Missense_Mutation_p.K257M|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.K257M|MOV10_ENST00000357443.2_Missense_Mutation_p.K257M Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 257 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding p.K257M(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) ACTCCCTTCAAGCGGACCCGG 0.617000 44 85 0 0 0.003610 0 0 GRIPAP1 56850 broad.mit.edu 37 X 48832429 48832429 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:48832429C>A ENST00000376441.1 - 24 2313 c.e24+1 GRIPAP1_ENST00000376444.3_Splice_Site|GRIPAP1_ENST00000376425.3_Splice_Site NM_020137.3 NP_064522.3 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 early endosome p.?(2) breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2) 10 GGGACACTGACCGATCCGGCT 0.617000 6 20 0.000157383 0.000179787 0.003080 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140725293 140725293 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140725293C>T ENST00000253812.6 + 1 1693 c.1693C>T c.(1693-1695)Ccc>Tcc p.P565S PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 p.P565S(1) breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCCTGTACCCCGCCCTCCC 0.662000 31 194 0 0 0.003755 0 0 TTN 7273 broad.mit.edu 37 2 179584410 179584410 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179584410T>C ENST00000589042.1 - 82 24033 c.23809A>G c.(23809-23811)Att>Gtt p.I7937V TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I6693V|TTN_ENST00000591111.1_Missense_Mutation_p.I7620V|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7620 Ig-like 61. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.I6693V(1) 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) ATGAATGTAATGTGATGTTTG 0.398000 20 175 0 0 0.007413 0 0 NLRP11 204801 broad.mit.edu 37 19 56303674 56303674 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:56303674C>A ENST00000443188.1 - 9 3216 c.2506G>T c.(2506-2508)Gag>Tag p.E836* NLRP11_ENST00000592953.1_Nonsense_Mutation_p.E737*|NLRP11_ENST00000589824.2_Nonsense_Mutation_p.E782*|NLRP11_ENST00000589093.1_Nonsense_Mutation_p.E836*|NLRP11_ENST00000360133.3_Nonsense_Mutation_p.E782* NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 836 ATP binding p.E836*(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TACTGAAGCTCCTCTAACTGA 0.483000 69 84 8.13855e-26 1.38641e-25 0.003610 1 0 MS4A6A 64231 broad.mit.edu 37 11 59945759 59945759 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:59945759T>A ENST00000528851.1 - 4 453 c.313A>T c.(313-315)Aca>Tca p.T105S MS4A6A_ENST00000533023.1_Intron|MS4A6A_ENST00000412309.2_Missense_Mutation_p.T133S|MS4A6A_ENST00000323961.3_Missense_Mutation_p.T105S|MS4A6A_ENST00000420732.2_Missense_Mutation_p.T105S|MS4A6A_ENST00000529054.1_Missense_Mutation_p.T133S|MS4A6A_ENST00000426738.2_Missense_Mutation_p.T60S|MS4A6A_ENST00000530839.1_Missense_Mutation_p.T105S|MS4A6A_ENST00000529906.1_5'UTR Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 6A 105 integral to membrane receptor activity p.T133S(1)|p.T105S(1) endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CTTTTCTCTGTGGCGATTGAT 0.393000 9 81 0 0 0.006214 0 0 SMYD3 64754 broad.mit.edu 37 1 245912930 245912930 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:245912930G>T ENST00000490107.1 - 12 1261 c.1045C>A c.(1045-1047)Cac>Aac p.H349N SMYD3_ENST00000366517.1_5'UTR|SMYD3_ENST00000388985.4_Missense_Mutation_p.H408N|SMYD3_ENST00000541742.1_Missense_Mutation_p.H349N NM_001167740.1 NP_001161212.1 Q9H7B4 SMYD3_HUMAN SET and MYND domain containing 3 408 cytoplasm|nucleus histone-lysine N-methyltransferase activity|protein binding|zinc ion binding p.H349N(1)|p.H408N(1) breast(3)|large_intestine(5)|lung(8)|skin(1) 17 all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242) all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164) OV - Ovarian serous cystadenocarcinoma(106;0.0129) all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537) ATCAGGCTGTGTTCTCTGCCA 0.463000 11 71 6.42651e-13 9.51241e-13 0.000978 1 0 FAM13C 220965 broad.mit.edu 37 10 61011385 61011385 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:61011385C>T ENST00000373867.3 - 14 1797 c.1332G>A c.(1330-1332)ctG>ctA p.L444L FAM13C_ENST00000373868.2_Silent_p.L528L|FAM13C_ENST00000419214.2_Silent_p.L430L|FAM13C_ENST00000468840.2_Silent_p.L445L|FAM13C_ENST00000435852.2_Silent_p.L528L|FAM13C_ENST00000277705.6_Silent_p.L548L|FAM13C_ENST00000442566.3_Silent_p.L549L NM_001166698.1 NP_001160170.1 Q8NE31 FA13C_HUMAN family with sequence similarity 13, member C 528 p.L528L(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGGCTTTCCGCAGTCTCTTCT 0.393000 62 207 0 0 0.003610 0 0 SERPINB10 5273 broad.mit.edu 37 18 61587111 61587111 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:61587111C>T ENST00000238508.3 + 5 521 c.462C>T c.(460-462)atC>atT p.I154I NM_005024.1 NP_005015.1 serpin peptidase inhibitor, clade B (ovalbumin), member 10 p.I154I(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2) 24 Esophageal squamous(42;0.131) GAAAGGACATCAACTCTTGGG 0.393000 13 95 0 0 0.001368 0 0 LAMP2 3920 broad.mit.edu 37 X 119575734 119575734 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:119575734T>A ENST00000371335.4 - 8 1080 c.944A>T c.(943-945)aAt>aTt p.N315I LAMP2_ENST00000540603.1_Missense_Mutation_p.N268I|LAMP2_ENST00000538785.1_Missense_Mutation_p.N204I|LAMP2_ENST00000434600.2_Missense_Mutation_p.N315I|LAMP2_ENST00000200639.4_Missense_Mutation_p.N315I NM_013995.2 NP_054701.1 P13473 LAMP2_HUMAN lysosomal-associated membrane protein 2 315 Second lumenal domain. platelet activation|platelet degranulation endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane p.N315I(3) endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2) 15 GAGATTGTTATTTGCAATGCT 0.418000 24 87 0 0 0.004656 0 0 REG3A 5068 broad.mit.edu 37 2 79384785 79384785 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:79384785T>A ENST00000393878.1 - 4 627 c.373A>T c.(373-375)Agt>Tgt p.S125C REG3A_ENST00000305165.2_Missense_Mutation_p.S125C|REG3A_ENST00000409839.3_Missense_Mutation_p.S125C NM_138938.2 NP_620355.1 Q06141 REG3A_HUMAN regenerating islet-derived 3 alpha 125 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding p.S125C(1) breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1) 50 ATCACATCACTGCTACTCCAC 0.542000 7 133 0 0 0.001984 0 0 ABCA10 10349 broad.mit.edu 37 17 67178860 67178860 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:67178860C>A ENST00000269081.4 - 22 3496 c.2587G>T c.(2587-2589)Gat>Tat p.D863Y ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 863 transport integral to membrane ATP binding|ATPase activity p.D863Y(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TAGGAGGGATCATCTGAGCCA 0.373000 39 241 5.73237e-09 7.6563e-09 0.006230 1 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48872251 48872251 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:48872251T>C ENST00000394754.1 + 7 2609 c.2495T>C c.(2494-2496)gTa>gCa p.V832A STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V832A|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V832A|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V832A|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.V128A|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V94A|STON1-GTF2A1L_ENST00000394751.3_Intron|LHCGR_ENST00000420913.3_Intron NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 786 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex p.V832A(1) NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTACAGACTGTATCTGGTGAG 0.328000 4 117 0 0 0.000602 0 0 TFAP2A 7020 broad.mit.edu 37 6 10398916 10398916 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:10398916C>A ENST00000379613.3 - 7 1310 c.1054G>T c.(1054-1056)Gac>Tac p.D352Y TFAP2A_ENST00000319516.4_Missense_Mutation_p.D346Y|TFAP2A_ENST00000379604.2_Missense_Mutation_p.D350Y|TFAP2A_ENST00000379608.3_Missense_Mutation_p.D344Y|TFAP2A_ENST00000482890.1_Missense_Mutation_p.D350Y P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 350 H-S-H (helix-span-helix), dimerization. ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding p.D350Y(1)|p.D344Y(1)|p.D346Y(1) breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) GCCAGCAGGTCGGTGAACTCT 0.567000 50 244 3.28156e-27 5.59998e-27 0.003610 1 0 RYR2 6262 broad.mit.edu 37 1 237982399 237982399 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:237982399G>C ENST00000366574.2 + 101 14814 c.14497G>C c.(14497-14499)Gac>Cac p.D4833H RYR2_ENST00000542537.1_Missense_Mutation_p.D4817H|RYR2_ENST00000360064.6_Missense_Mutation_p.D4839H NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4833 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.D4831H(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGAAATCGAAGACCCAGCAGG 0.413000 24 92 0 0 0.002780 0 0 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:72413896A>G ENST00000395270.1 + 14 3610 c.2569A>G c.(2569-2571)Acc>Gcc p.T857A POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A|POM121_ENST00000257622.4_Missense_Mutation_p.T857A NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1122 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore p.T857A(8) NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637000 3 39 0 0 0.009096 0 0 CROT 54677 broad.mit.edu 37 7 87022321 87022321 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:87022321G>T ENST00000331536.3 + 17 1841 c.1656G>T c.(1654-1656)caG>caT p.Q552H CROT_ENST00000419147.2_Missense_Mutation_p.Q580H|CROT_ENST00000442291.1_Missense_Mutation_p.Q552H NM_021151.3 NP_066974.2 Q9UKG9 OCTC_HUMAN carnitine O-octanoyltransferase 552 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity p.Q552H(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TACGAGTCCAGGGAGTGGTAG 0.418000 68 262 2.40655e-23 4.0289e-23 0.003610 1 0 OR4N5 390437 broad.mit.edu 37 14 20612039 20612039 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20612039A>T ENST00000333629.1 + 1 145 c.145A>T c.(145-147)Ata>Tta p.I49L NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I49L(1) endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) CATTTTCACCATAAAGTCAGA 0.463000 111 250 0 0 0.003610 0 0 ACLY 47 broad.mit.edu 37 17 40063719 40063719 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:40063719G>A ENST00000352035.2 - 7 853 c.723C>T c.(721-723)ccC>ccT p.P241P ACLY_ENST00000393896.2_Silent_p.P241P|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000590151.1_Silent_p.P241P|ACLY_ENST00000353196.1_Silent_p.P241P NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 241 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity p.P241P(1) NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) CCCGCCCGAAGGGGGGAGGGA 0.577000 35 95 0 0 0.004878 0 0 ZC3H12C 85463 broad.mit.edu 37 11 110023681 110023681 + Nonsense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:110023681A>T ENST00000453089.2 + 2 1599 c.718A>T c.(718-720)Aaa>Taa p.K240* ZC3H12C_ENST00000528673.1_Nonsense_Mutation_p.K272*|ZC3H12C_ENST00000278590.3_Nonsense_Mutation_p.K271* Q9C0D7 ZC12C_HUMAN zinc finger CCCH-type containing 12C 271 endonuclease activity|nucleic acid binding|zinc ion binding p.K271*(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279) CAGAGGAATAAAATTGGCAGT 0.363000 10 31 0 0 0.008291 0 0 CUBN 8029 broad.mit.edu 37 10 16878336 16878336 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:16878336C>A ENST00000377833.4 - 63 10143 c.10078G>T c.(10078-10080)Gct>Tct p.A3360S NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3360 CUB 25. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity p.A3360S(1) breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACTGGCACAGCCGAAGCATTT 0.393000 10 97 3.86212e-05 4.50194e-05 0.008291 1 0 CKAP2L 150468 broad.mit.edu 37 2 113513676 113513676 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:113513676C>A ENST00000541405.1 - 4 1300 c.777G>T c.(775-777)aaG>aaT p.K259N CKAP2L_ENST00000302450.6_Missense_Mutation_p.K424N Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 424 centrosome p.K424N(1) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 GGGGAACAGCCTTTTTCAACT 0.408000 73 479 3.4887e-51 6.10366e-51 0.003610 1 0 RPS4Y1 6192 broad.mit.edu 37 Y 2712266 2712266 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrY:2712266G>T ENST00000250784.8 + 3 369 c.230G>T c.(229-231)cGa>cTa p.R77L NM_001008.3 NP_000999.1 ribosomal protein S4, Y-linked 1 p.R77L(1) kidney(1)|lung(2) 3 GGCAAGGTTCGAGTGGATGTC 0.423000 59 101 2.44918e-20 3.92435e-20 0.003610 1 0 MKRN1 23608 broad.mit.edu 37 7 140154936 140154936 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:140154936C>G ENST00000255977.2 - 7 1419 c.1195G>C c.(1195-1197)Gag>Cag p.E399Q MKRN1_ENST00000437223.2_Missense_Mutation_p.E133Q|MKRN1_ENST00000474576.1_Missense_Mutation_p.E335Q NM_013446.3 NP_038474.2 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 399 ligase activity|nucleic acid binding|protein binding|zinc ion binding p.E399Q(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 16 Melanoma(164;0.00956) CTCTGTGGCTCCTCTCTACGG 0.488000 19 162 0 0 0.003271 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378677 114378677 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:114378677G>T ENST00000312719.5 - 5 1973 c.785C>A c.(784-786)cCt>cAt p.P262H HS3ST5_ENST00000411826.1_Missense_Mutation_p.P262H|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 262 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding p.P262H(1)|p.P262L(1) breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TTCTGGCAGAGGTTCCGTGAT 0.433000 43 118 1.22674e-20 1.97868e-20 0.008740 1 0 KIAA1324 57535 broad.mit.edu 37 1 109735309 109735309 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:109735309A>G ENST00000369939.3 + 14 1943 c.1760A>G c.(1759-1761)tAc>tGc p.Y587C KIAA1324_ENST00000529753.1_Missense_Mutation_p.Y500C|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 587 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane p.Y587C(1) NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GTGGCCTCCTACTGCCGTCCC 0.522000 51 318 0 0 0.003610 0 0 ABCC9 10060 broad.mit.edu 37 12 21970121 21970121 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:21970121C>A ENST00000261200.4 - 31 3891 c.3892_splice c.e31+1 p.D1298_splice ABCC9_ENST00000345162.2_Splice_Site_p.D1262_splice|ABCC9_ENST00000261201.4_Splice_Site_p.D1298_splice NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1298 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.D1298Y(2) NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGAGCAATACCCATTGTGCCT 0.398000 47 91 1.30916e-28 2.24593e-28 0.003610 1 0 OR52B6 340980 broad.mit.edu 37 11 5602329 5602329 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:5602329C>A ENST00000345043.2 + 1 223 c.223C>A c.(223-225)Ctg>Atg p.L75M HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 75 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L75L(1)|p.L75M(1) endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCAGGCAATCCTGCATGAGCC 0.507000 50 92 9.52127e-25 1.61065e-24 0.003610 1 0 TAS2R46 259292 broad.mit.edu 37 12 11214459 11214459 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:11214459A>C ENST00000533467.1 - 1 434 c.435T>G c.(433-435)ttT>ttG p.F145L TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 145 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity p.?(1)|p.F145L(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) TGTTTATCACAAAAAGATGAC 0.348000 4 91 0 0 0.001984 0 0 DZIP1 22873 broad.mit.edu 37 13 96293708 96293708 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr13:96293708C>T ENST00000347108.3 - 3 870 c.438G>A c.(436-438)gaG>gaA p.E146E DZIP1_ENST00000376829.2_Silent_p.E146E|DZIP1_ENST00000466027.1_5'UTR|DZIP1_ENST00000361396.2_Silent_p.E146E|DZIP1_ENST00000361156.3_Silent_p.E146E Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 146 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding p.E146E(2) endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) GCAGCCGCTCCTCCAGGGTGT 0.617000 10 22 0 0 0.008291 0 0 XPOT 11260 broad.mit.edu 37 12 64814133 64814133 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:64814133G>T ENST00000332707.5 + 8 1204 c.674_splice c.e8-1 p.R225_splice NM_007235.4 NP_009166.2 O43592 XPOT_HUMAN exportin, tRNA 225 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding p.R225S(1) NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) CCATTACCAGGTTTATAAATA 0.308000 39 96 5.43694e-19 8.57024e-19 0.005524 1 0 GATM 2628 broad.mit.edu 37 15 45660383 45660383 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:45660383C>A ENST00000396659.3 - 4 899 c.560G>T c.(559-561)cGt>cTt p.R187L GATM_ENST00000558336.1_Missense_Mutation_p.R187L NM_001482.2 NP_001473.1 P50440 GATM_HUMAN glycine amidinotransferase (L-arginine:glycine amidinotransferase) 187 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding p.R187L(1) biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 15 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) GAAGCGTGAACGCCATGCCAT 0.488000 9 29 1.58986e-06 1.96157e-06 0.008291 1 0 PUS7L 83448 broad.mit.edu 37 12 44136349 44136349 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:44136349A>C ENST00000416848.2 - 5 1761 c.1273T>G c.(1273-1275)Ttt>Gtt p.F425V PUS7L_ENST00000344862.5_Missense_Mutation_p.F425V|PUS7L_ENST00000431332.3_Missense_Mutation_p.F112V|PUS7L_ENST00000551923.1_Missense_Mutation_p.F425V NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 425 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding p.F425V(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TAATTCACAAAGCCTTTTTTC 0.294000 6 132 0 0 0.001168 0 0 MYH2 4620 broad.mit.edu 37 17 10432238 10432238 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:10432238C>T ENST00000245503.5 - 27 3897 c.3513G>A c.(3511-3513)aaG>aaA p.K1171K CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.K1171K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1171 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.K1171K(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CCTCCCGCTTCTTGTTCATCT 0.597000 5 214 0 0 0.001984 0 0 UTRN 7402 broad.mit.edu 37 6 144863971 144863971 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:144863971A>T ENST00000367545.3 + 45 6560 c.6560A>T c.(6559-6561)cAg>cTg p.Q2187L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2187 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding p.Q2187L(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GAATGCATCCAGGAGCCCAGT 0.368000 3 38 0 0 0.009096 0 0 SNCB 6620 broad.mit.edu 37 5 176053505 176053505 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:176053505G>T ENST00000310112.3 - 5 426 c.176C>A c.(175-177)aCc>aAc p.T59N SNCB_ENST00000506696.1_Missense_Mutation_p.T59N|SNCB_ENST00000510387.1_Missense_Mutation_p.T59N|SNCB_ENST00000393693.2_Missense_Mutation_p.T59N NM_001001502.1 NP_001001502.1 Q16143 SYUB_HUMAN synuclein, beta 59 4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity p.T59N(1) breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 10 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGTTCCTTGGTTTTTTCAGC 0.592000 4 63 0.00909568 0.00965236 0.009096 1 0 HIVEP3 59269 broad.mit.edu 37 1 41978593 41978593 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:41978593C>A ENST00000372584.1 - 7 7313 c.6299G>T c.(6298-6300)gGg>gTg p.G2100V HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G2100V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2100V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2100V NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 2100 6 X 4 AA tandem repeats of S-P-X-[RK]. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding p.G2100V(1) NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCCATGCTCCCCCGCTGAGGG 0.701000 5 11 0.00198382 0.00215952 0.001984 1 0 TTN 7273 broad.mit.edu 37 2 179429980 179429980 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179429980G>C ENST00000589042.1 - 326 81103 c.80879C>G c.(80878-80880)aCa>aGa p.T26960R TTN_ENST00000342175.6_Missense_Mutation_p.T18087R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T17895R|TTN_ENST00000342992.6_Missense_Mutation_p.T24392R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T25319R|TTN_ENST00000359218.5_Missense_Mutation_p.T18020R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25319 Fibronectin type-III 96. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.T18020R(1)|p.T24392R(1)|p.T17895R(1)|p.T24390R(1)|p.T18087R(1) 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) TTCTGTTGCTGTGCCTGCACT 0.408000 34 155 0 0 0.002836 0 0 TRIM51 84767 broad.mit.edu 37 11 55657475 55657475 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55657475G>T ENST00000449290.2 + 6 911 c.819G>T c.(817-819)ggG>ggT p.G273G TRIM51_ENST00000244891.3_Silent_p.G130G NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 273 B30.2/SPRY. intracellular zinc ion binding p.G273G(1)|p.G114G(1) TCAGTGCAGGGCCCATCACTG 0.498000 5 45 3.59834e-05 4.2147e-05 0.001168 1 0 IQSEC3 440073 broad.mit.edu 37 12 266787 266787 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:266787C>A ENST00000538872.1 + 7 2488 c.2370C>A c.(2368-2370)aaC>aaA p.N790K IQSEC3_ENST00000382841.2_Missense_Mutation_p.N487K|IQSEC3_ENST00000326261.4_Missense_Mutation_p.N790K Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 790 SEC7. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity p.N487K(1)|p.N790K(1) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TCCTCCTCAACACCGACATGT 0.582000 6 105 0.00116845 0.00129221 0.001168 1 0 MASP1 5648 broad.mit.edu 37 3 186961390 186961390 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:186961390T>A ENST00000337774.5 - 9 1499 c.1110A>T c.(1108-1110)ccA>ccT p.P370P MASP1_ENST00000296280.6_Silent_p.P370P|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Silent_p.P257P NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 370 Sushi 2. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity p.P370P(2) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CCAGCTCTCCTGGGGCTCTAC 0.478000 11 158 0 0 0.000978 0 0 HAMP 57817 broad.mit.edu 37 19 35775840 35775840 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:35775840G>T ENST00000598398.1 + 4 446 c.e4-1 HAMP_ENST00000222304.3_Splice_Site NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity p.?(1) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCTTCCCACAGCCCATGTTCC 0.587000 20 195 2.4624e-09 3.32543e-09 0.008871 1 0 ZBTB20 26137 broad.mit.edu 37 3 114070473 114070473 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:114070473A>C ENST00000462705.1 - 11 1054 c.233T>G c.(232-234)gTg>gGg p.V78G ZBTB20_ENST00000471418.1_Missense_Mutation_p.V78G|ZBTB20_ENST00000481632.1_Missense_Mutation_p.V78G|ZBTB20_ENST00000393785.2_Missense_Mutation_p.V78G|ZBTB20_ENST00000474710.1_Missense_Mutation_p.V151G|ZBTB20_ENST00000357258.3_Missense_Mutation_p.V78G|ZBTB20_ENST00000464560.1_Missense_Mutation_p.V78G NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V78G(1) breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GAGCTTTTGCACTGACTGCAC 0.592000 6 49 0 0 0.001168 0 0 SYT5 6861 broad.mit.edu 37 19 55689649 55689649 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:55689649C>T ENST00000354308.3 - 3 536 c.167G>A c.(166-168)cGg>cAg p.R56Q SYT5_ENST00000537500.1_Missense_Mutation_p.R56Q|SYT5_ENST00000590851.1_Intron NM_003180.2 NP_003171.2 O00445 SYT5_HUMAN synaptotagmin V 56 energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity p.R56Q(1) kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) TGTCCGCCTCCGACAGCTCTT 0.627000 11 9 0 0 0.001368 0 0 ANKRD37 353322 broad.mit.edu 37 4 186320857 186320857 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:186320857T>A ENST00000335174.4 + 4 846 c.406T>A c.(406-408)Tgt>Agt p.C136S NM_181726.2 NP_859077.1 Q7Z713 ANR37_HUMAN ankyrin repeat domain 37 136 cytoplasm|nucleus p.C136S(1) NS(1)|large_intestine(1)|lung(1) 3 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155) CAGGAATGATTGTGTTGCCGT 0.438000 14 105 0 0 0.004990 0 0 ADAM33 80332 broad.mit.edu 37 20 3652889 3652889 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:3652889G>T ENST00000356518.2 - 14 1730 c.1489C>A c.(1489-1491)Cca>Aca p.P497T ADAM33_ENST00000379861.4_Missense_Mutation_p.P497T|ADAM33_ENST00000350009.2_Missense_Mutation_p.P497T|ADAM33_ENST00000466620.1_5'UTR NM_025220.2 NP_079496.1 Q9BZ11 ADA33_HUMAN ADAM metallopeptidase domain 33 497 Disintegrin. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.P497T(1) haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3) 29 TAAACGTCTGGGGGACAGTGG 0.657000 15 93 2.32078e-09 3.14293e-09 0.003163 1 0 CHRNA4 1137 broad.mit.edu 37 20 61990962 61990962 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:61990962C>A ENST00000370263.4 - 2 387 c.166G>T c.(166-168)Gcc>Tcc p.A56S CHRNA4_ENST00000463705.1_Intron NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 56 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity p.A56S(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GAGATGTTGGCCACGGGTCGG 0.637000 14 90 0.000151284 0.000174462 0.001855 1 0 MUC17 140453 broad.mit.edu 37 7 100685732 100685732 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:100685732C>A ENST00000306151.4 + 3 11099 c.11035C>A c.(11035-11037)Cct>Act p.P3679T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3679 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.P3679N(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCCTGTGACTCCTGAAGGTAC 0.517000 6 239 0.00116845 0.00129221 0.001168 1 0 SRPX 8406 broad.mit.edu 37 X 38033550 38033550 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:38033550G>A ENST00000378533.3 - 3 318 c.212C>T c.(211-213)gCc>gTc p.A71V TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_Missense_Mutation_p.A71V|SRPX_ENST00000544439.1_Missense_Mutation_p.A51V|SRPX_ENST00000538295.1_Missense_Mutation_p.A71V|SRPX_ENST00000343800.6_Missense_Mutation_p.A58V NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 71 Sushi 1. cell adhesion cell surface|membrane p.A71V(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 TCCTTGAGGGGCCCTGCAGTA 0.517000 21 14 0 0 0.001882 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559152 129559152 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:129559152C>G ENST00000422113.2 - 9 2894 c.2568G>C c.(2566-2568)acG>acC p.T856T TMEM132D_ENST00000389441.4_Silent_p.T394T NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 856 integral to membrane p.T856T(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ACCTGTCTGTCGTGGTGCCCC 0.552000 10 84 0 0 0.008291 0 0 FBXO38 81545 broad.mit.edu 37 5 147818033 147818033 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:147818033G>A ENST00000340253.5 + 18 3164 c.2996G>A c.(2995-2997)cGc>cAc p.R999H FBXO38_ENST00000394370.3_Missense_Mutation_p.R924H|FBXO38_ENST00000513826.1_Missense_Mutation_p.R754H|FBXO38_ENST00000296701.6_Missense_Mutation_p.R754H Q6PIJ6 FBX38_HUMAN F-box protein 38 999 cytoplasm|nucleus p.R999H(1) ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGAGAAACCGCATCATATAC 0.408000 23 71 0 0 0.003330 0 0 TRIM51 84767 broad.mit.edu 37 11 55653024 55653024 + Nonsense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55653024C>G ENST00000449290.2 + 2 212 c.120C>G c.(118-120)taC>taG p.Y40* NM_032681.3 NP_116070.2 Q9BSJ1 SPRY5_HUMAN tripartite motif-containing 51 40 intracellular zinc ion binding p.Y40*(1) CCTGTTTGTACCTCAACTGGC 0.507000 5 71 0 0 0.000602 0 0 SPCS3 60559 broad.mit.edu 37 4 177241368 177241368 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:177241368G>C ENST00000503362.1 + 1 254 c.141G>C c.(139-141)atG>atC p.M47I RP11-87F15.2_ENST00000512634.1_RNA NM_021928.3 NP_068747.1 P61009 SPCS3_HUMAN signal peptidase complex subunit 3 homolog (S. cerevisiae) 47 energy reserve metabolic process|regulation of insulin secretion|signal peptide processing integral to membrane|microsome|signal peptidase complex peptidase activity p.M47I(1) ovary(2) 2 Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124) all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319) CGCGGATCATGCTGTGAGTGA 0.741000 13 28 0 0 0.001855 0 0 GPR112 139378 broad.mit.edu 37 X 135427278 135427278 + Silent SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:135427278T>A ENST00000394143.1 + 6 1704 c.1413T>A c.(1411-1413)ccT>ccA p.P471P GPR112_ENST00000370652.1_Silent_p.P471P|GPR112_ENST00000394141.1_Silent_p.P266P|GPR112_ENST00000287534.4_Silent_p.P408P|GPR112_ENST00000412101.1_Silent_p.P266P NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 471 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P471P(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CACCTGAGCCTGTGCTCATCT 0.448000 5 78 0 0 0.000602 0 0 CLEC11A 6320 broad.mit.edu 37 19 51226833 51226833 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:51226833C>T ENST00000250340.4 + 1 248 c.51C>T c.(49-51)ggC>ggT p.G17G CLEC11A_ENST00000599973.1_Silent_p.G17G NM_002975.2 NP_002966.1 Q9Y240 CLC11_HUMAN C-type lectin domain family 11, member A 17 positive regulation of cell proliferation cytoplasm|extracellular region growth factor activity|sugar binding p.G17G(1) kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 7 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) AGCTCTTGGGCTTTGGCCATG 0.632000 7 93 0 0 0.003080 0 0 CHFR 55743 broad.mit.edu 37 12 133447364 133447364 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:133447364C>A ENST00000266880.7 - 5 412 c.349G>T c.(349-351)Gca>Tca p.A117S CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.A117S|CHFR_ENST00000443047.2_Intron|CHFR_ENST00000432561.2_Missense_Mutation_p.A117S|CHFR_ENST00000315585.7_Missense_Mutation_p.A117S Q96EP1 CHFR_HUMAN checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase 117 cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination PML body nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.A117S(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.00552)|all_epithelial(31;0.226) OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05) TAGAGGTATGCCACGTCTAAA 0.388000 13 118 1.5842e-08 2.09287e-08 0.001855 1 0 SVEP1 79987 broad.mit.edu 37 9 113151817 113151817 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:113151817C>T ENST00000401783.2 - 41 10209 c.9873G>A c.(9871-9873)gtG>gtA p.V3291V SVEP1_ENST00000297826.5_Silent_p.V1217V|SVEP1_ENST00000374469.1_Silent_p.V3268V NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3291 Sushi 31. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.V3294V(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGCATATTGCCACCCCTCCAC 0.433000 26 54 0 0 0.008361 0 0 HOXA7 3204 broad.mit.edu 37 7 27196009 27196009 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:27196009C>G ENST00000242159.3 - 1 289 c.156G>C c.(154-156)ccG>ccC p.P52P NM_006896.3 NP_008827.2 P31268 HXA7_HUMAN homeobox A7 52 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding p.P52P(1) endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1) 16 TGTATAAGCCCGGAACGGTCG 0.642000 8 90 0 0 0.004482 0 0 AC024592.12 0 broad.mit.edu 37 19 5896936 5896936 + Nonsense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:5896936C>T ENST00000586349.1 - 2 164 c.165G>A c.(163-165)tgG>tgA p.W55* NDUFA11_ENST00000308961.4_Missense_Mutation_p.G57E|FUT5_ENST00000252675.5_5'UTR|NDUFA11_ENST00000592634.1_Missense_Mutation_p.G57E|NDUFA11_ENST00000418389.2_Missense_Mutation_p.G57E p.G57E(1) CGTGTATTGTCCAACCTTAGC 0.612000 7 143 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179446708 179446708 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:179446708C>G ENST00000589042.1 - 315 66612 c.66388G>C c.(66388-66390)Gtt>Ctt p.V22130L TTN_ENST00000342175.6_Missense_Mutation_p.V13257L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V13065L|TTN_ENST00000342992.6_Missense_Mutation_p.V19562L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V20489L|TTN_ENST00000359218.5_Missense_Mutation_p.V13190L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20489 Fibronectin type-III 60. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V13190L(1)|p.V19562L(1)|p.V13257L(1)|p.V13065L(1)|p.V19560L(1) 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) ATAGCTGTAACACGGAACTCA 0.443000 5 198 0 0 0.000602 0 0 TRPM2 7226 broad.mit.edu 37 21 45833845 45833845 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr21:45833845G>T ENST00000397928.1 + 20 3479 c.3034G>T c.(3034-3036)Gac>Tac p.D1012Y TRPM2_ENST00000300482.5_Missense_Mutation_p.D1012Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.D1012Y|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.D992Y NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1012 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.D1012Y(1) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 CCCCGAGAGCGACGCGACGCA 0.627000 45 324 2.76378e-25 4.68348e-25 0.003610 1 0 PNLIPRP1 5407 broad.mit.edu 37 10 118350659 118350659 + Silent SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:118350659A>T ENST00000528052.1 + 2 89 c.18A>T c.(16-18)acA>acT p.T6T PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000442761.1_Silent_p.T6T|PNLIPRP1_ENST00000358834.4_Silent_p.T6T|PNLIPRP1_ENST00000534537.1_Silent_p.T6T P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 6 lipid metabolic process calcium ion binding|triglyceride lipase activity p.T6T(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) TCTTCTGGACAATCACACTTT 0.493000 8 55 0 0 0.006214 0 0 MOV10 4343 broad.mit.edu 37 1 113242307 113242307 + Splice_Site SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:113242307G>C ENST00000369644.1 + 19 3445 c.2415_splice c.e19-1 p.V806_splice MOV10_ENST00000369645.1_Splice_Site_p.V862_splice|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Splice_Site_p.V862_splice|MOV10_ENST00000357443.2_Splice_Site_p.V862_splice Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 862 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding p.V862L(1) breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TCCCCACTAGGTGGGTTCAGT 0.567000 38 112 0 0 0.006230 0 0 ARMC3 219681 broad.mit.edu 37 10 23235134 23235134 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:23235134C>A ENST00000298032.5 + 3 194 c.110C>A c.(109-111)cCa>cAa p.P37Q ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.P37Q|ARMC3_ENST00000409983.3_Missense_Mutation_p.P37Q NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 37 binding p.P37E(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 CTTAATTCTCCAGAAGAGGAA 0.313000 37 87 3.09479e-21 5.03356e-21 0.006999 1 0 RUSC1 23623 broad.mit.edu 37 1 155298032 155298032 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:155298032G>C ENST00000368352.5 + 9 2657 c.2506G>C c.(2506-2508)Gag>Cag p.E836Q RUSC1_ENST00000292254.4_Missense_Mutation_p.E367Q|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368349.4_Missense_Mutation_p.E367Q|RUSC1_ENST00000368347.4_Missense_Mutation_p.E426Q|RUSC1_ENST00000368354.3_Missense_Mutation_p.E730Q NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 836 cytoplasm|nucleolus SH3/SH2 adaptor activity p.E426Q(1)|p.E730Q(1)|p.E367Q(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) TCAGGAGCTTGAGGCCTCAGC 0.552000 14 234 0 0 0.007413 0 0 C14orf37 145407 broad.mit.edu 37 14 58604955 58604955 + Silent SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:58604955T>G ENST00000267485.7 - 2 1316 c.1122A>C c.(1120-1122)acA>acC p.T374T C14orf37_ENST00000334342.5_5'UTR NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 374 integral to membrane binding p.T374T(1) breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 TGCCCGTGTGTGTTTCCCCTT 0.537000 7 235 0 0 0.003080 0 0 MPP7 143098 broad.mit.edu 37 10 28378646 28378646 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:28378646C>A ENST00000337532.5 - 13 1353 c.1077G>T c.(1075-1077)ccG>ccT p.P359P MPP7_ENST00000445954.2_Silent_p.P234P|MPP7_ENST00000540098.1_Silent_p.P359P|MPP7_ENST00000375719.3_Silent_p.P359P|MPP7_ENST00000375732.1_Silent_p.P359P NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 359 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity p.P359P(1) autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 GTCGCCGATACGGTGTCACTT 0.383000 5 288 1.024e-07 1.30829e-07 0.000602 1 0 CYP2C9 1559 broad.mit.edu 37 10 96748684 96748684 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:96748684C>T ENST00000260682.6 + 9 1384 c.1372C>T c.(1372-1374)Ctg>Ttg p.L458L NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 458 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity p.L458L(1) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) GAACTTTAACCTGAAATCTCT 0.473000 29 216 0 0 0.008361 0 0 JMJD4 65094 broad.mit.edu 37 1 227922419 227922419 + Nonsense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:227922419C>A ENST00000366758.3 - 2 498 c.499G>T c.(499-501)Gag>Tag p.E167* JMJD4_ENST00000438896.2_Nonsense_Mutation_p.E167*|SNAP47_ENST00000366760.1_Intron NM_023007.2 NP_075383.2 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 167 p.E167*(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 9 Prostate(94;0.0885) TGTATGTACTCTTTCCAGTAG 0.552000 11 113 2.31682e-05 2.73678e-05 0.003163 1 0 ZNF648 127665 broad.mit.edu 37 1 182025857 182025857 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:182025857G>A ENST00000339948.3 - 2 1496 c.1289C>T c.(1288-1290)aCc>aTc p.T430I NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T430I(1) breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 GGAGGACTTGGTGAAGCACTT 0.692000 3 8 0 0 0.004672 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338961 13338961 + RNA SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:13338961C>T ENST00000602906.1 + 0 749 p.P92L(1) kidney(3)|lung(1) 4 AAGACCAAGCCTATTTGGACC 0.418000 20 49 0 0 0.002780 0 0 RPL23A 6147 broad.mit.edu 37 17 27050643 27050643 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:27050643G>T ENST00000422514.2 + 4 1054 c.441G>T c.(439-441)ttG>ttT p.L147F RPL23A_ENST00000496182.1_Missense_Mutation_p.L61F|RPL23A_ENST00000472628.1_Missense_Mutation_p.L61F|RPL23A_ENST00000394938.4_Missense_Mutation_p.L185F NM_000984.5 NP_000975.2 P62750 RL23A_HUMAN ribosomal protein L23a 147 cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleus nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome p.L147F(1) endometrium(1)|lung(3)|ovary(1) 5 Lung NSC(42;0.00431) ACGATGCTTTGGATGTTGCCA 0.498000 7 284 2.7689e-08 3.62834e-08 0.001984 1 0 KCNN4 3783 broad.mit.edu 37 19 44273613 44273613 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:44273613G>A ENST00000262888.3 - 6 1425 c.1030C>T c.(1030-1032)Ctg>Ttg p.L344L NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 344 Calmodulin-binding. defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) GCGGCCAGCAGCTTGCGCTGA 0.577000 5 70 0 0 0.001168 0 0 PSD2 84249 broad.mit.edu 37 5 139216500 139216500 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:139216500T>C ENST00000274710.3 + 10 1713 c.1508T>C c.(1507-1509)cTg>cCg p.L503P NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 503 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity p.L503P(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACCCCTTCCTGGATGTCCCA 0.592000 39 138 0 0 0.002522 0 0 C3orf58 205428 broad.mit.edu 37 3 143704422 143704422 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:143704422A>G ENST00000315691.3 + 2 1230 c.695A>G c.(694-696)tAt>tGt p.Y232C C3orf58_ENST00000495414.1_Missense_Mutation_p.Y23C|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_5'UTR NM_173552.3 NP_775823.1 Q8NDZ4 CC058_HUMAN chromosome 3 open reading frame 58 232 COPI vesicle coat|extracellular region p.Y232C(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TTTGCAAAGTATCTTGGAGCT 0.393000 11 259 0 0 0.000978 0 0 UGT2A1 10941 broad.mit.edu 37 4 70460881 70460881 + Splice_Site SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:70460881A>G ENST00000503640.1 - 4 1138 c.1084_splice c.e4+1 p.L361_splice UGT2A1_ENST00000514019.1_Splice_Site_p.L527_splice|UGT2A1_ENST00000512704.1_Splice_Site_p.L317_splice|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000286604.4_Splice_Site_p.L361_splice|UGT2A2_ENST00000457664.2_Splice_Site_p.L370_splice NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 361 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity p.L361L(1)|p.L370L(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 CAGTCTTACCAAGAAGATCAT 0.338000 25 95 0 0 0.005443 0 0 G3BP1 10146 broad.mit.edu 37 5 151173720 151173720 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:151173720G>T ENST00000394123.3 + 5 497 c.351_splice c.e5-1 p.G118_splice G3BP1_ENST00000543466.1_Intron|G3BP1_ENST00000356245.3_Splice_Site_p.G118_splice Q13283 G3BP1_HUMAN GTPase activating protein (SH3 domain) binding protein 1 118 NTF2. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding p.G118W(2) breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2) 29 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) GGCATTGCAGGGGTCTGTTGC 0.413000 6 106 0.00198382 0.00215952 0.001984 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120298883 120298883 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:120298883C>T ENST00000397843.2 + 8 678 c.512C>T c.(511-513)cCc>cTc p.P171L ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P152L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P68L NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 171 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.P171L(1) NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CATATGTCTCCCATCATGACA 0.498000 T MLL AML 5 347 0 0 0.000602 0 0 FAM189B 10712 broad.mit.edu 37 1 155223710 155223710 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:155223710C>T ENST00000361361.2 - 4 962 c.453G>A c.(451-453)tcG>tcA p.S151S FAM189B_ENST00000472550.1_Intron|FAM189B_ENST00000350210.2_Intron|FAM189B_ENST00000368368.3_Silent_p.S132S NM_006589.2 NP_006580.2 P81408 F189B_HUMAN family with sequence similarity 189, member B 151 integral to membrane WW domain binding p.S151S(1) breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 GTTCCTGCCCCGACTCTGGAC 0.602000 48 52 0 0 0.003610 0 0 NDST4 64579 broad.mit.edu 37 4 115760594 115760594 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:115760594T>C ENST00000264363.2 - 11 2904 c.2226A>G c.(2224-2226)ctA>ctG p.L742L NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 742 Heparan sulfate N-sulfotransferase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.L742L(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATCCAGGTACTAGGCATCTTC 0.378000 8 120 0 0 0.008291 0 0 FMN2 56776 broad.mit.edu 37 1 240370957 240370957 + Missense_Mutation SNP C C T rs6143701 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:240370957C>T ENST00000319653.9 + 5 3075 c.2845C>T c.(2845-2847)Ccc>Tcc p.P949S NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 949 FH1.|Pro-rich. 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 p.P1092S(1) 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) GCCCCCTCTACCCGGAGCGGC 0.692000 12 61 0 0 0.004007 0 0 STK11 6794 broad.mit.edu 37 19 1219359 1219359 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:1219359G>T ENST00000326873.7 + 3 1584 c.411G>T c.(409-411)caG>caT p.Q137H STK11_ENST00000585748.1_3'UTR NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 137 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2)|p.Q137_E138>H*(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 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)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GTGGCATGCAGGAAATGCTGG 0.701000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 7 3 0.00307968 0.00332263 0.003080 1 0 BRSK1 84446 broad.mit.edu 37 19 55817686 55817686 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:55817686G>T ENST00000309383.1 + 17 2234 c.1957G>T c.(1957-1959)Ggc>Tgc p.G653C BRSK1_ENST00000590333.1_Missense_Mutation_p.G669C|BRSK1_ENST00000326848.7_Missense_Mutation_p.G348C NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 653 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity p.G653C(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GGCCAGTGGCGGCCCCTCCGT 0.652000 31 31 1.04594e-18 1.64338e-18 0.006230 1 0 OR51F1 256892 broad.mit.edu 37 11 4790262 4790262 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:4790262C>A ENST00000380383.1 - 1 906 c.907G>T c.(907-909)Gta>Tta p.V303L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.V296L A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 296 integral to membrane olfactory receptor activity p.V296L(1) kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) TTTGTTTTTACACTGTCGATG 0.448000 34 70 4.44401e-20 7.09726e-20 0.002522 1 0 SLC9A3 6550 broad.mit.edu 37 5 482784 482784 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:482784C>T ENST00000264938.3 - 7 1244 c.1235G>A c.(1234-1236)gGg>gAg p.G412E SLC9A3_ENST00000514375.1_Missense_Mutation_p.G412E NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 412 cell surface|integral to membrane sodium:hydrogen antiporter activity p.G412E(1) NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GCGCAGGCCCCCGTAGGACAG 0.627000 7 24 0 0 0.003080 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118215342 118215342 + Splice_Site SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:118215342G>T ENST00000369230.3 + 5 711 c.565_splice c.e5+1 p.G189_splice NM_001011709.2 NP_001011709.2 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 189 lipid catabolic process extracellular region triglyceride lipase activity p.G189W(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 all cancers(201;0.0131) AAGAATAACTGGTAAGCATGC 0.448000 11 44 0.000673444 0.000755097 0.008291 1 0 ZFHX4 79776 broad.mit.edu 37 8 77765002 77765002 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:77765002G>T ENST00000521891.2 + 10 6293 c.5845G>T c.(5845-5847)Gga>Tga p.G1949* ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.G1904*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.G1923*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.G1904* NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1904 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G1949*(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTAGAATGTGGAACATGTGG 0.378000 HNSCC(33;0.089) 25 85 2.21704e-12 3.25187e-12 0.002780 1 0 RBM12 10137 broad.mit.edu 37 20 34242230 34242230 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:34242230C>A ENST00000374114.3 - 3 1278 c.1015G>T c.(1015-1017)Gta>Tta p.V339L CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.V339L|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.V339L NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 339 RRM 1. nucleus nucleotide binding|protein binding|RNA binding p.V339L(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) TTTCGACCTACATGATCTTTC 0.398000 42 291 9.88483e-10 1.35759e-09 0.007835 1 0 ACACB 32 broad.mit.edu 37 12 109637270 109637270 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:109637270G>T ENST00000338432.7 + 18 2810 c.2691G>T c.(2689-2691)ctG>ctT p.L897L ACACB_ENST00000377848.3_Silent_p.L897L|ACACB_ENST00000377854.5_Silent_p.L897L O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 897 Biotinyl-binding. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.L897L(1) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CTACAGTCCTGAGATCCCCCT 0.562000 10 118 0.00244969 0.00266367 0.002450 1 0 VAV3 10451 broad.mit.edu 37 1 108303496 108303496 + Nonsense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:108303496A>T ENST00000370056.4 - 10 1201 c.927T>A c.(925-927)tgT>tgA p.C309* VAV3_ENST00000527011.1_Nonsense_Mutation_p.C309*|VAV3_ENST00000371846.4_Nonsense_Mutation_p.C244*|VAV3_ENST00000343258.4_5'UTR NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 309 DH. angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity p.C309*(1) NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) CTCTTTTGGAACATTCCTAAT 0.353000 3 22 0 0 0.004672 0 0 SI 6476 broad.mit.edu 37 3 164767613 164767613 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:164767613A>T ENST00000264382.3 - 14 1625 c.1563T>A c.(1561-1563)aaT>aaA p.N521K NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 521 Isomaltase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.N521K(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) ATTTGTTTACATTACATCCTT 0.279000 HNSCC(35;0.089) 8 45 0 0 0.006214 0 0 SP110 3431 broad.mit.edu 37 2 231036855 231036855 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:231036855C>A ENST00000258381.6 - 16 1819 c.1742G>T c.(1741-1743)aGg>aTg p.R581M AC009950.2_ENST00000595586.1_RNA|AC009950.2_ENST00000594622.1_RNA|AC009950.2_ENST00000454058.1_RNA|SP110_ENST00000358662.4_Missense_Mutation_p.R581M|AC009950.2_ENST00000600787.1_RNA NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 581 Bromo. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding p.R581M(1) breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TCCTGAAGACCTCTTCATCCT 0.547000 67 127 1.76847e-28 3.02855e-28 0.003610 1 0 CDH23 64072 broad.mit.edu 37 10 73269950 73269950 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:73269950T>A ENST00000224721.6 + 3 262 c.257T>A c.(256-258)gTg>gAg p.V86E CDH23_ENST00000461841.3_Missense_Mutation_p.V131E|CDH23_ENST00000398809.4_Missense_Mutation_p.V86E|CDH23_ENST00000299366.7_Missense_Mutation_p.V131E|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000398842.3_Missense_Mutation_p.V86E NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 86 Cadherin 1. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.V86E(2) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GACACTGGCGTGGTGTGGCTC 0.617000 7 37 0 0 0.001882 0 0 GABRA2 2555 broad.mit.edu 37 4 46252443 46252443 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:46252443C>A ENST00000510861.1 - 10 1411 c.1238G>T c.(1237-1239)aGt>aTt p.S413I GABRA2_ENST00000540012.1_Missense_Mutation_p.S418I|GABRA2_ENST00000514090.1_Missense_Mutation_p.S413I|GABRA2_ENST00000356504.1_Missense_Mutation_p.S413I|GABRA2_ENST00000381620.4_Missense_Mutation_p.S413I|GABRA2_ENST00000507069.1_Missense_Mutation_p.S473I P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 413 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.S413I(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTGCTAACACTGTTGAAAGT 0.393000 27 208 2.48779e-11 3.57874e-11 0.005443 1 0 DGKK 139189 broad.mit.edu 37 X 50133405 50133405 + RNA SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:50133405C>A ENST00000376025.2 - 0 1906 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.W412S(2)|p.W412F(1) central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CATCACACTCCATCTGAAATG 0.393000 23 82 3.08376e-08 4.01924e-08 0.003330 1 0 SHANK1 50944 broad.mit.edu 37 19 51217450 51217450 + Nonsense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:51217450G>T ENST00000293441.1 - 4 647 c.629C>A c.(628-630)tCg>tAg p.S210* SHANK1_ENST00000391814.1_Nonsense_Mutation_p.S210*|SHANK1_ENST00000359082.3_Nonsense_Mutation_p.S210* NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 210 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding p.S210*(1) breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCCCGAATCCGAGTCATGGTA 0.602000 5 48 3.59834e-05 4.2147e-05 0.001168 1 0 OR8H3 390152 broad.mit.edu 37 11 55890117 55890117 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:55890117A>G ENST00000313472.3 + 1 269 c.269A>G c.(268-270)aAc>aGc p.N90S NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N90S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) CTGACTTCCAACTATATTTCC 0.423000 21 693 0 0 0.002780 0 0 SEMA5A 9037 broad.mit.edu 37 5 9122842 9122842 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:9122842G>A ENST00000382496.5 - 14 2372 c.1707C>T c.(1705-1707)tcC>tcT p.S569S NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 569 TSP type-1 1. cell adhesion|cell-cell signaling integral to membrane|plasma membrane p.S569S(1) biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 GGCTGTCGCAGGAGCGGGTTC 0.652000 12 75 0 0 0.005443 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 36 0 0 0.001168 0 0 PDE11A 50940 broad.mit.edu 37 2 178704991 178704991 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:178704991C>T ENST00000286063.5 - 6 1804 c.1487G>A c.(1486-1488)cGc>cAc p.R496H PDE11A_ENST00000389683.3_Missense_Mutation_p.R52H|PDE11A_ENST00000409504.1_Missense_Mutation_p.R138H|PDE11A_ENST00000358450.4_Missense_Mutation_p.R246H|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000449286.2_Missense_Mutation_p.R138H NM_016953.3 NP_058649.3 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A 496 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.R496H(1)|p.R246H(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TGCATCAAAGCGCGGATCCTG 0.453000 Primary Pigmented Nodular Adrenocortical Disease, Familial 4 72 0 0 0.000602 0 0 PLXNA4 91584 broad.mit.edu 37 7 131908336 131908336 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:131908336G>A ENST00000359827.3 - 9 3009 c.2047C>T c.(2047-2049)Cat>Tat p.H683Y PLXNA4_ENST00000321063.4_Missense_Mutation_p.H683Y Q9HCM2 PLXA4_HUMAN plexin A4 683 PSI 2. integral to membrane|intracellular|plasma membrane p.H683Y(2) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TTGGGGTCATGGGTGCAGACA 0.592000 4 36 0 0 0.001168 0 0 SASH1 23328 broad.mit.edu 37 6 148855994 148855994 + Missense_Mutation SNP A A C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:148855994A>C ENST00000367467.3 + 16 2527 c.2052A>C c.(2050-2052)agA>agC p.R684S NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 684 SAM 1. protein binding p.R684S(1) breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CGGAACACAGAGCTGTTCTCT 0.498000 31 101 0 0 0.002096 0 0 FAM171A1 221061 broad.mit.edu 37 10 15296879 15296879 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:15296879C>A ENST00000378116.4 - 4 425 c.e4-1 NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 integral to membrane p.?(2) breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 GGCCGGGCACCTGCAGAGATT 0.552000 8 45 1.06961e-07 1.36298e-07 0.003080 1 0 AE000661.37 0 broad.mit.edu 37 14 22928126 22928126 + RNA SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:22928126C>T ENST00000514473.2 - 0 225 TRDJ3_ENST00000390476.1_RNA TCGGAACTGGCATCAAACTCT 0.498000 3 18 0 0 0.000602 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140710430 140710430 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140710430C>A ENST00000517417.1 + 1 179 c.179C>A c.(178-180)gCa>gAa p.A60E PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A60E NM_018912.2 NP_061735.1 p.A60E(2) breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGGAGCTGGCAGATGGCGGA 0.582000 23 140 3.01185e-09 4.05056e-09 0.003954 1 0 DLG4 1742 broad.mit.edu 37 17 7097767 7097767 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:7097767T>A ENST00000399510.2 - 14 2330 c.1478A>T c.(1477-1479)cAg>cTg p.Q493L DLG4_ENST00000302955.6_Missense_Mutation_p.Q447L|DLG4_ENST00000399506.2_Missense_Mutation_p.Q450L NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 450 SH3. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding p.Q493L(1)|p.Q447L(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GCTCAGGGCCTGGCTCAGGAA 0.597000 7 10 0 0 0.006214 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90577282 90577282 + RNA SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:90577282G>T ENST00000551025.1 + 0 5710 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity p.V1425L(1) NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TGTGTGTAGTGTAGAAAAGAG 0.408000 36 75 4.11147e-13 6.12307e-13 0.003755 1 0 MMP16 4325 broad.mit.edu 37 8 89053712 89053712 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:89053712G>A ENST00000286614.6 - 10 2082 c.1801C>T c.(1801-1803)Cgc>Tgc p.R601C NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 601 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding p.R601C(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 TGCATAGAGCGTTTACAGTAC 0.438000 46 97 0 0 0.003610 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745978 140745978 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:140745978T>C ENST00000518069.1 + 1 2081 c.2081T>C c.(2080-2082)gTg>gCg p.V694A PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 p.V694A(1) endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTATCTTGTGGTGGCAGTG 0.597000 14 370 0 0 0.008871 0 0 ELK3 2004 broad.mit.edu 37 12 96641401 96641401 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:96641401G>T ENST00000228741.3 + 3 1217 c.891G>T c.(889-891)ttG>ttT p.L297F ELK3_ENST00000552142.1_Intron NM_005230.2 NP_005221.2 P41970 ELK3_HUMAN ELK3, ETS-domain protein (SRF accessory protein 2) 297 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity p.L297F(1) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) CCAAAGGCTTGGAAATCTCAG 0.617000 11 85 5.16669e-11 7.36689e-11 0.000978 1 0 SUV420H1 51111 broad.mit.edu 37 11 67926156 67926156 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:67926156C>T ENST00000304363.4 - 11 2010 c.1657G>A c.(1657-1659)Gac>Aac p.D553N NM_017635.3 NP_060105.3 Q4FZB7 SV421_HUMAN suppressor of variegation 4-20 homolog 1 (Drosophila) 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.D553N(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 AGCTTGATGTCAGAGGCCTCC 0.537000 7 355 0 0 0.004482 0 0 MSH4 4438 broad.mit.edu 37 1 76355032 76355032 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:76355032C>T ENST00000263187.3 + 16 2308 c.2204C>T c.(2203-2205)aCa>aTa p.T735I NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 735 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding p.T735I(1) breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 AATTCATCAACATTTATGAAA 0.279000 Mismatch excision repair (MMR) 11 59 0 0 0.001368 0 0 PRDM10 56980 broad.mit.edu 37 11 129785714 129785714 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:129785714C>G ENST00000358825.5 - 17 2610 c.2379G>C c.(2377-2379)aaG>aaC p.K793N PRDM10_ENST00000423662.2_Missense_Mutation_p.K707N|PRDM10_ENST00000360871.3_Missense_Mutation_p.K789N|PRDM10_ENST00000304538.6_Missense_Mutation_p.K703N|PRDM10_ENST00000526082.1_Missense_Mutation_p.K707N|PRDM10_ENST00000528746.1_Missense_Mutation_p.K763N NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 793 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K789N(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CTGGGTGGTTCTTCAGAATGT 0.542000 20 225 0 0 0.007413 0 0 PKDREJ 10343 broad.mit.edu 37 22 46656286 46656286 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr22:46656286C>T ENST00000253255.5 - 1 2933 c.2934G>A c.(2932-2934)ttG>ttA p.L978L NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 978 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity p.L978L(1) NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) TCGTCTTCTTCAAGGACCCAT 0.483000 40 134 0 0 0.006230 0 0 ANKRD17 26057 broad.mit.edu 37 4 74008402 74008402 + Silent SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:74008402C>G ENST00000358602.4 - 12 2156 c.2040G>C c.(2038-2040)gtG>gtC p.V680V ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.V567V|ANKRD17_ENST00000330838.6_Silent_p.V680V NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 680 interspecies interaction between organisms cytoplasm|nucleus RNA binding p.V680V(1) NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAAGTAGTTCCACCACTGCCA 0.433000 7 136 0 0 0.003080 0 0 ARID3C 138715 broad.mit.edu 37 9 34623454 34623454 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:34623454C>T ENST00000378909.2 - 4 925 c.833G>A c.(832-834)tGc>tAc p.C278Y NM_001017363.1 NP_001017363.1 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT-like) 278 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding p.C278*(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 14 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) CAGCTGAGCGCATGCATGCGC 0.642000 57 216 0 0 0.003610 0 0 QARS 5859 broad.mit.edu 37 3 49138082 49138082 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:49138082C>T ENST00000306125.6 - 11 1239 c.902G>A c.(901-903)cGt>cAt p.R301H QARS_ENST00000470225.1_5'UTR|QARS_ENST00000414533.1_Missense_Mutation_p.R290H|QARS_ENST00000420147.2_3'UTR P47897 SYQ_HUMAN glutaminyl-tRNA synthetase 301 glutaminyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|glutamine-tRNA ligase activity|protein binding p.R301H(1) breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) L-Glutamine(DB00130) GTCATCAAAACGCAGAAAACA 0.478000 4 101 0 0 0.009096 0 0 SMARCA4 6597 broad.mit.edu 37 19 11138617 11138617 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:11138617A>G ENST00000358026.2 + 24 3657 c.3373A>G c.(3373-3375)Agg>Ggg p.R1125G SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1125G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1125G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1125G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1125G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1125G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1125G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1125G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1125G NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1125 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.R1125G(2)|p.?(2) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) TAAATACCTCAGGCTTGATGG 0.507000 """F, N, Mis""" NSCLC 48 172 0 0 0.003610 0 0 TTC6 319089 broad.mit.edu 37 14 38277948 38277948 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:38277948T>C ENST00000553443.1 + 24 4466 c.4466T>C c.(4465-4467)cTa>cCa p.L1489P TTC6_ENST00000267368.7_Missense_Mutation_p.L123P|TTC6_ENST00000476979.1_Missense_Mutation_p.L123P|TTC6_ENST00000382320.3_Missense_Mutation_p.L203P tetratricopeptide repeat domain 6 p.L123P(1)|p.L1489P(1) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) ACTTATAAGCTAGCAATTACA 0.274000 13 343 0 0 0.001855 0 0 P2RY10 27334 broad.mit.edu 37 X 78216969 78216969 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:78216969C>T ENST00000171757.2 + 4 1232 c.952C>T c.(952-954)Cgc>Tgc p.R318C P2RY10_ENST00000544091.1_Missense_Mutation_p.R318C NM_014499.2 NP_055314.1 O00398 P2Y10_HUMAN purinergic receptor P2Y, G-protein coupled, 10 318 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.R318C(1) breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2) 42 CCAACTATCCCGCCATGGCAG 0.443000 57 37 0 0 0.003610 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803479 185803479 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:185803479C>A ENST00000302277.6 + 4 3950 c.3356C>A c.(3355-3357)gCa>gAa p.A1119E NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1119 intracellular zinc ion binding p.A1119E(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 gccgcagctgcagGAACCTTT 0.517000 29 38 6.32628e-17 9.8128e-17 0.003610 1 0 ZNF831 128611 broad.mit.edu 37 20 57766576 57766576 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:57766576G>T ENST00000371030.2 + 1 502 c.502G>T c.(502-504)Ggt>Tgt p.G168C NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 168 intracellular nucleic acid binding|zinc ion binding p.G168C(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GTCCCACACGGGTGAGAGGCC 0.617000 19 264 4.96729e-08 6.42242e-08 0.008871 1 0 GPR115 221393 broad.mit.edu 37 6 47676002 47676002 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:47676002G>A ENST00000283303.2 + 3 394 c.136G>A c.(136-138)Gga>Aga p.G46R GPR115_ENST00000371220.1_Missense_Mutation_p.G103R|GPR115_ENST00000327753.3_Missense_Mutation_p.G46R NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 46 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.G46R(1) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 ACCCAAGACTGGAAGGATCCA 0.458000 16 41 0 0 0.010504 0 0 OR1C1 26188 broad.mit.edu 37 1 247921241 247921241 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:247921241G>T ENST00000408896.2 - 1 741 c.468C>A c.(466-468)gcC>gcA p.A156A NM_012353.2 NP_036485.2 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A156A(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1) 46 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TATGCAGGAGGGCGTGGAGGT 0.502000 7 50 2.7689e-08 3.62834e-08 0.001984 1 0 OR4Q3 441669 broad.mit.edu 37 14 20216282 20216282 + Silent SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20216282G>A ENST00000331723.1 + 1 696 c.696G>A c.(694-696)caG>caA p.Q232Q NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q232Q(1)|p.Q232H(1) NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ACTTCTGCCAGGGCCAGAACA 0.488000 19 202 0 0 0.008871 0 0 TSIX 9383 broad.mit.edu 37 X 73045838 73045838 + RNA SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:73045838C>G ENST00000604411.1 + 0 33799 XIST_ENST00000429829.1_lincRNA NR_003255.2 TATTTGGCCACTACTATGAGC 0.493000 22 77 0 0 0.003330 0 0 ASTL 431705 broad.mit.edu 37 2 96799710 96799710 + Missense_Mutation SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:96799710T>C ENST00000342380.2 - 4 330 c.331A>G c.(331-333)Aag>Gag p.K111E NM_001002036.3 NP_001002036.3 Q6HA08 ASTL_HUMAN astacin-like metallo-endopeptidase (M12 family) 111 proteolysis metalloendopeptidase activity|zinc ion binding p.K111E(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2) 30 TCACCGTACTTGCTGGAGAGC 0.582000 21 36 0 0 0.004656 0 0 APBA2 321 broad.mit.edu 37 15 29346679 29346679 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr15:29346679C>A ENST00000558402.1 + 5 1191 c.592C>A c.(592-594)Ccc>Acc p.P198T APBA2_ENST00000558259.1_Missense_Mutation_p.P198T|APBA2_ENST00000411764.1_Missense_Mutation_p.P198T|APBA2_ENST00000561069.1_Missense_Mutation_p.P198T|APBA2_ENST00000558330.1_Missense_Mutation_p.P198T Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 198 STXBP1-binding. DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). nervous system development|protein transport protein binding p.P198T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GGACTACTACCCCGAGGAGGC 0.632000 10 23 4.68919e-08 6.07094e-08 0.008291 1 0 NUGGC 389643 broad.mit.edu 37 8 27898648 27898648 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:27898648C>T ENST00000413272.2 - 13 1673 c.1531G>A c.(1531-1533)Gcc>Acc p.A511T NUGGC_ENST00000341513.6_Missense_Mutation_p.A511T NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated p.A511T(2) TCCATGCAGGCGAAGCACTGT 0.567000 3 7 0 0 0.004672 0 0 CSMD3 114788 broad.mit.edu 37 8 113323244 113323244 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:113323244C>A ENST00000297405.5 - 50 8092 c.7848G>T c.(7846-7848)ggG>ggT p.G2616G CSMD3_ENST00000343508.3_Silent_p.G2576G|CSMD3_ENST00000352409.3_Silent_p.G2546G|CSMD3_ENST00000455883.2_Silent_p.G2512G NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2616 Sushi 14. integral to membrane|plasma membrane p.G2576G(1)|p.G2616G(1) 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 ATGCATGATACCCATAGGAAG 0.463000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 43 81 1.68508e-10 2.37477e-10 0.009718 1 0 RASAL2 9462 broad.mit.edu 37 1 178426890 178426890 + Silent SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:178426890G>T ENST00000448150.3 + 14 3248 c.2430G>T c.(2428-2430)ctG>ctT p.L810L RASAL2_ENST00000367649.3_Silent_p.L821L|RASAL2_ENST00000462775.1_Silent_p.L680L NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 680 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity p.L821L(1)|p.L810L(1)|p.L680L(1) biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CATTATTGCTGGTTCAGCAAG 0.448000 17 160 3.41278e-10 4.76807e-10 0.004990 1 0 EPHA1 2041 broad.mit.edu 37 7 143096454 143096454 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:143096454C>T ENST00000275815.3 - 5 974 c.888G>A c.(886-888)acG>acA p.T296T NM_005232.4 NP_005223.4 P21709 EPHA1_HUMAN EPH receptor A1 296 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity p.T296T(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3) 51 Melanoma(164;0.205) Myeloproliferative disorder(862;0.0255) GCTGGGGGCACGTGAGACAAT 0.602000 6 58 0 0 0.001984 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125175123 125175123 + Missense_Mutation SNP G G A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:125175123G>A ENST00000431078.1 + 4 849 c.485G>A c.(484-486)aGt>aAt p.S162N NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 162 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding p.S162N(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGAATCCCAGTGGGAAGATT 0.502000 16 26 0 0 0.004007 0 0 SYTL5 94122 broad.mit.edu 37 X 37984667 37984667 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chrX:37984667T>A ENST00000357972.5 + 16 2504 c.1958T>A c.(1957-1959)aTa>aAa p.I653K TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.I653K|SYTL5_ENST00000456733.2_Missense_Mutation_p.I675K Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 653 C2 2. intracellular protein transport membrane metal ion binding|Rab GTPase binding p.I653K(1) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 44 CCCCAGGATATAAAGAATGTT 0.433000 27 68 0 0 0.006320 0 0 EVX1 2128 broad.mit.edu 37 7 27284799 27284799 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:27284799G>T ENST00000496902.4 + 2 1046 c.560G>T c.(559-561)cGc>cTc p.R187L EVX1_ENST00000535619.1_Missense_Mutation_p.R5L|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_Missense_Mutation_p.A169S P49640 EVX1_HUMAN even-skipped homeobox 1 187 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R187L(1) kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1) 14 CGTCGTTACCGCACCGCCTTC 0.662000 22 84 1.55469e-16 2.40383e-16 0.003330 1 0 NLRP14 338323 broad.mit.edu 37 11 7079669 7079669 + Missense_Mutation SNP T T G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:7079669T>G ENST00000299481.4 + 8 2967 c.2621T>G c.(2620-2622)cTg>cGg p.L874R NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 874 cell differentiation|multicellular organismal development|spermatogenesis ATP binding p.L874R(1) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) CAATGTACTCTGAAGAGCCTT 0.343000 6 158 0 0 0.004482 0 0 OR5H14 403273 broad.mit.edu 37 3 97868307 97868307 + Silent SNP C C A rs146669592 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:97868307C>A ENST00000437310.1 + 1 138 c.78C>A c.(76-78)ccC>ccA p.P26P NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, member 14 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.(=)(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 GGAAAATACCCCTGTTCCTGG 0.418000 43 270 2.43468e-25 4.133e-25 0.003610 1 0 ZNF658 26149 broad.mit.edu 37 9 40773112 40773112 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr9:40773112T>C ENST00000602553.1 - 5 2457 c.2163A>G c.(2161-2163)aaA>aaG p.K721K ZNF658_ENST00000377626.3_Silent_p.K721K|ZNF658_ENST00000441795.1_Intron Q5TYW1 ZN658_HUMAN zinc finger protein 658 721 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K721K(1) breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGGCAAATGTTTTCTCACATT 0.393000 9 375 0 0 0.001855 0 0 PDLIM4 8572 broad.mit.edu 37 5 131606626 131606626 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:131606626A>T ENST00000253754.3 + 4 410 c.346A>T c.(346-348)Agc>Tgc p.S116C PDLIM4_ENST00000484620.1_3'UTR|P4HA2_ENST00000471826.1_Intron|PDLIM4_ENST00000379018.3_Missense_Mutation_p.S116C NM_001131027.1|NM_003687.3 NP_001124499.1|NP_003678.2 P50479 PDLI4_HUMAN PDZ and LIM domain 4 116 protein binding|zinc ion binding p.S116C(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCCAACAACCAGCAGGCGGCC 0.622000 25 100 0 0 0.002096 0 0 FAT4 79633 broad.mit.edu 37 4 126412916 126412916 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:126412916A>G ENST00000394329.3 + 17 14952 c.14939A>G c.(14938-14940)tAt>tGt p.Y4980C FAT4_ENST00000335110.5_Missense_Mutation_p.Y3221C NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4980 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Y4980C(1)|p.Y4923C(1) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCAGAACAGTATGTGTGAAGT 0.373000 3 21 0 0 0.009096 0 0 ST18 9705 broad.mit.edu 37 8 53084677 53084677 + Missense_Mutation SNP G G C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:53084677G>C ENST00000276480.7 - 10 1427 c.744C>G c.(742-744)aaC>aaG p.N248K NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 248 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.N248K(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) AATCACACCTGTTCTCACAAG 0.443000 29 144 0 0 0.009535 0 0 MROH8 140699 broad.mit.edu 37 20 35783522 35783522 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:35783522C>G ENST00000400441.3 - 9 1017 c.1018G>C c.(1018-1020)Gcc>Ccc p.A340P MROH8_ENST00000441008.2_Missense_Mutation_p.A326P|MROH8_ENST00000217333.8_Intron maestro heat-like repeat family member 8 p.R366R(2)|p.A340P(1) CTGGCCGTGGCCCGTTCCCGC 0.502000 9 157 0 0 0.008291 0 0 OR10A2 341276 broad.mit.edu 37 11 6891892 6891892 + Missense_Mutation SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:6891892C>A ENST00000307322.4 + 1 969 c.907C>A c.(907-909)Cca>Aca p.P303T NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P303T(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) AAACTGTATCCCATAGACCTT 0.453000 47 103 3.54909e-21 5.76282e-21 0.002852 1 0 KIF21A 55605 broad.mit.edu 37 12 39752118 39752118 + Missense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:39752118T>A ENST00000395670.3 - 8 1496 c.1077A>T c.(1075-1077)ttA>ttT p.L359F KIF21A_ENST00000361418.5_Missense_Mutation_p.L359F|KIF21A_ENST00000361961.3_Missense_Mutation_p.L359F|KIF21A_ENST00000544797.2_Missense_Mutation_p.L359F|KIF21A_ENST00000541463.2_Missense_Mutation_p.L359F Q7Z4S6 KI21A_HUMAN kinesin family member 21A 359 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.L359F(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TCAGGGTGTTTAACGTTTCCA 0.393000 48 357 0 0 0.003610 0 0 OR2W5 441932 broad.mit.edu 37 1 247654812 247654812 + RNA SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:247654812G>T ENST00000522351.1 + 0 443 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R128L(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-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) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GCCGTCTGCCGGTCCCTGCAC 0.587000 63 58 1.1397e-45 1.99038e-45 0.003610 1 0 SH2D3A 10045 broad.mit.edu 37 19 6755233 6755233 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:6755233C>T ENST00000245908.6 - 5 859 c.590G>A c.(589-591)aGt>aAt p.S197N SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.S75N NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 197 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity p.S197N(1) breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 GGCCCTGAGACTGTCGGCAAC 0.637000 37 121 0 0 0.005524 0 0 PUS7L 83448 broad.mit.edu 37 12 44130285 44130285 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:44130285C>G ENST00000416848.2 - 7 2112 c.1624G>C c.(1624-1626)Gca>Cca p.A542P PUS7L_ENST00000344862.5_Missense_Mutation_p.A542P|PUS7L_ENST00000431332.3_Missense_Mutation_p.A229P|PUS7L_ENST00000551923.1_Missense_Mutation_p.A542P NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 542 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding p.A542P(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TAAGATACTGCCTCATTCCAA 0.428000 8 183 0 0 0.003080 0 0 PAPPA2 60676 broad.mit.edu 37 1 176661380 176661380 + Silent SNP T T C TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:176661380T>C ENST00000367662.3 + 6 3714 c.2550T>C c.(2548-2550)ccT>ccC p.P850P NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 850 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.P850P(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCATTCCACCTATGGTCATCG 0.517000 46 253 0 0 0.003610 0 0 OR8B2 26595 broad.mit.edu 37 11 124253151 124253151 + Missense_Mutation SNP A A T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr11:124253151A>T ENST00000375013.2 - 1 107 c.89T>A c.(88-90)cTg>cAg p.L30Q NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L30Q(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CACTAGAAACAGGAAAAAGAG 0.418000 68 265 0 0 0.003610 0 0 RBM12 10137 broad.mit.edu 37 20 34241207 34241207 + Missense_Mutation SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:34241207A>G ENST00000374114.3 - 3 2301 c.2038T>C c.(2038-2040)Tca>Cca p.S680P CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.S680P|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317619.3_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.S680P NM_001198838.1|NM_001198840.1|NM_006047.5 NP_001185767.1|NP_001185769.1|NP_006038.2 Q9NTZ6 RBM12_HUMAN RNA binding motif protein 12 680 Gly-rich.|Pro-rich. nucleus nucleotide binding|protein binding|RNA binding p.S680P(1) breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.00953) GTTATTGCTGAACCAGGCAGT 0.597000 32 69 0 0 0.009535 0 0 NR3C2 4306 broad.mit.edu 37 4 149357469 149357469 + Nonsense_Mutation SNP T T A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:149357469T>A ENST00000355292.3 - 2 906 c.544A>T c.(544-546)Aaa>Taa p.K182* NR3C2_ENST00000342437.4_Nonsense_Mutation_p.K182*|NR3C2_ENST00000511528.1_Nonsense_Mutation_p.K182*|NR3C2_ENST00000512865.1_Nonsense_Mutation_p.K182*|NR3C2_ENST00000344721.4_Nonsense_Mutation_p.K182*|NR3C2_ENST00000358102.3_Nonsense_Mutation_p.K182* P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 182 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.K182*(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ATAGGGCTTTTAACAACGGCG 0.512000 5 114 0 0 0.000602 0 0 PACS2 23241 broad.mit.edu 37 14 105818726 105818726 + Silent SNP A A G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:105818726A>G ENST00000447393.1 + 3 394 c.219A>G c.(217-219)cgA>cgG p.R73R PACS2_ENST00000430725.2_Silent_p.R6R|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000325438.8_Silent_p.R73R|PACS2_ENST00000458164.2_Silent_p.R73R NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 73 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion p.R73R(1) endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GCTCCAAACGAATCCTGCGGT 0.532000 OREG0022968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 221 0 0 0.006122 0 0 ZNF37A 7587 broad.mit.edu 37 10 38407520 38407520 + Missense_Mutation SNP G G T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:38407520G>T ENST00000351773.3 + 8 2271 c.1441G>T c.(1441-1443)Gcc>Tcc p.A481S ZNF37A_ENST00000361085.4_Missense_Mutation_p.A481S NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A 481 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A481S(2) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 TCAGAAGTCAGCCCTAATTGT 0.408000 17 96 8.60227e-14 1.29101e-13 0.004007 1 0 TMX4 56255 broad.mit.edu 37 20 7963259 7963259 + Missense_Mutation SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:7963259C>T ENST00000246024.2 - 8 904 c.689G>A c.(688-690)cGg>cAg p.R230Q NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 230 Glu-rich. cell redox homeostasis|electron transport chain|transport integral to membrane p.R230Q(1) endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 CTCTGATCTCCGATTCTGCTC 0.393000 8 72 0 0 0.008291 0 0 EPS15L1 58513 broad.mit.edu 37 19 16535930 16535930 + Silent SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr19:16535930C>A ENST00000602009.1 - 3 1189 c.294G>T c.(292-294)ggG>ggT p.G98G EPS15L1_ENST00000455140.2_Silent_p.G252G|EPS15L1_ENST00000248070.6_Silent_p.G252G|EPS15L1_ENST00000535753.2_Silent_p.G252G|EPS15L1_ENST00000597937.1_Silent_p.G252G|EPS15L1_ENST00000594975.1_Silent_p.G252G Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 252 EH 1. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding p.G252G(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 GGGACAGGCTCCCTGTGCTGT 0.657000 21 32 1.57351e-24 2.64798e-24 0.003755 1 0 DLG5 9231 broad.mit.edu 37 10 79571774 79571774 + Silent SNP C C T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:79571774C>T ENST00000372391.2 - 22 4235 c.4230G>A c.(4228-4230)gcG>gcA p.A1410A DLG5_ENST00000372388.2_Silent_p.A1070A|DLG5_ENST00000459739.1_5'UTR NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1410 PDZ 3. 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 p.A1410A(1) 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) TGATGAGCCGCGCCTGCTGCT 0.652000 12 100 0 0 0.002450 0 0 GRIK3 2899 broad.mit.edu 37 1 37356618 37356619 + Frame_Shift_Ins INS - - A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:37356618_37356619insA ENST00000373091.3 - 2 210_211 c.194_195insT c.(193-195)aatfs p.N65fs GRIK3_ENST00000373093.4_Frame_Shift_Ins_p.N65fs NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 65 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGTTGATGATGTTGGCAGAAAA 0.500 35 306 --- --- --- --- RHBG 57127 broad.mit.edu 37 1 156351938 156351938 + Frame_Shift_Del DEL C C - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr1:156351938delC ENST00000400992.2 + 7 1330 c.962delC c.(961-963)gcfs p.A321fs RHBG_ENST00000451864.2_Frame_Shift_Del_p.A275fs|RHBG_ENST00000537040.1_Frame_Shift_Del_p.P186fs|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000255013.3_Frame_Shift_Del_p.A284fs|RHBG_ENST00000368246.2_Frame_Shift_Del_p.A353fs|RHBG_ENST00000368249.1_Frame_Shift_Del_p.A353fs Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 353 transepithelial ammonium transport anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) GTCCTGGGGGCCCTCCTGGGG 0.557 42 201 --- --- --- --- CEBPZ 10153 broad.mit.edu 37 2 37454908 37454908 + Frame_Shift_Del DEL T T - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr2:37454908delT ENST00000234170.5 - 2 1573 c.1428delA c.(1426-1428)aafs p.K476fs NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 476 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) ATTCAACATCTTTTTTTTTGA 0.368 7 99 --- --- --- --- PXK 54899 broad.mit.edu 37 3 58383335 58383335 + Frame_Shift_Del DEL T T - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:58383335delT ENST00000463280.1 + 9 980 c.889delT c.(889-891)tgfs p.L297fs PXK_ENST00000484288.1_Frame_Shift_Del_p.L330fs|PXK_ENST00000356151.2_Frame_Shift_Del_p.L330fs|PXK_ENST00000536660.1_Frame_Shift_Del_p.L193fs|PXK_ENST00000479241.1_Frame_Shift_Del_p.L313fs|PXK_ENST00000302779.5_Frame_Shift_Del_p.L313fs|PXK_ENST00000383716.3_Frame_Shift_Del_p.L297fs|PXK_ENST00000383715.4_Frame_Shift_Del_p.L313fs Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 330 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) TCCACAGACATTGGAAAGTGT 0.547 28 173 --- --- --- --- GPR27 2850 broad.mit.edu 37 3 71804249 71804249 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:71804249delG ENST00000304411.2 + 1 1049 c.1049delG c.(1048-1050)agfs p.R350fs NM_018971.1 NP_061844.1 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 350 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(1)|lung(2)|ovary(1)|prostate(1) 5 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) GACTGCTTCAGGGCCCAGTTC 0.652 7 17 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87039828 87039828 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:87039828delG ENST00000398399.2 - 1 429 c.66delC c.(64-66)ccfs p.P22fs VGLL3_ENST00000383698.3_Frame_Shift_Del_p.P22fs NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 22 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) TCGCTGCCATGGGGTTGGGCA 0.692 8 36 --- --- --- --- DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs2622736 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr3:137880741_137880743delTCG ENST00000260803.4 - 8 1776_1778 c.1623_1625delCGA c.(1621-1626)gat>ga p.DD541del DBR1_ENST00000505015.2_In_Frame_Del_p.DD307del NM_016216.3 NP_057300.2 Q9UK59 DBR1_HUMAN debranching RNA lariats 1 541 nucleus metal ion binding|RNA lariat debranching enzyme activity NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 TTAAGCTGCATCGTCATCATCAT 0.394 7 222 --- --- --- --- TXK 7294 broad.mit.edu 37 4 48073614 48073614 + Frame_Shift_Del DEL T T - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:48073614delT ENST00000264316.4 - 14 1520 c.1435delA c.(1435-1437)ttfs p.I479fs TXK_ENST00000507351.1_Frame_Shift_Del_p.I134fs NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 479 Protein kinase. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 CCTTCAGAAATAGCTTCCACG 0.398 63 182 --- --- --- --- OTUD4 54726 broad.mit.edu 37 4 146059084 146059085 + Frame_Shift_Ins INS - - T rs138021807 by1000genomes TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr4:146059084_146059085insT ENST00000454497.2 - 21 2784_2785 c.2647_2648insA c.(2647-2649)ggcfs p.G883fs OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Frame_Shift_Ins_p.G948fs NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 947 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AGCCAATGCCGTATCTGCCTTT 0.520 33 194 --- --- --- --- ROPN1L 83853 broad.mit.edu 37 5 10442407 10442408 + Frame_Shift_Ins INS - - G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr5:10442407_10442408insG ENST00000503804.1 + 2 649_650 c.128_129insG c.(127-129)gggfs p.G43fs ROPN1L_ENST00000274134.4_Frame_Shift_Ins_p.G43fs|ROPN1L_ENST00000510520.1_3'UTR Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 43 RIIa. ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 CGGTGGTCCGCGGGGTAAGCGC 0.683 9 67 --- --- --- --- EYS 346007 broad.mit.edu 37 6 66112422 66112422 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr6:66112422delG ENST00000503581.1 - 7 1670 c.1133delC c.(1132-1134)ctfs p.P378fs EYS_ENST00000370621.3_Frame_Shift_Del_p.P378fs|EYS_ENST00000393380.2_Frame_Shift_Del_p.P378fs|EYS_ENST00000370616.2_Frame_Shift_Del_p.P378fs|EYS_ENST00000370618.3_Frame_Shift_Del_p.P378fs|EYS_ENST00000342421.5_Frame_Shift_Del_p.P378fs NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 378 EGF-like 5. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 ATTCCTCAAAGGAAATGACTC 0.279 7 29 --- --- --- --- ZNF679 168417 broad.mit.edu 37 7 63727024 63727024 + Frame_Shift_Del DEL C C - rs111583875 TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:63727024delC ENST00000421025.1 + 5 1282 c.1013delC c.(1012-1014)acfs p.T338fs ZNF679_ENST00000255746.4_Frame_Shift_Del_p.T338fs NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 TGCTCCTCAACCCTTAAGAAA 0.393 7 39 --- --- --- --- AKR1B1 231 broad.mit.edu 37 7 134134483 134134483 + Frame_Shift_Del DEL C C - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr7:134134483delC ENST00000285930.4 - 4 497 c.418delG c.(418-420)acfs p.D140fs AKR1B1_ENST00000489022.1_5'UTR NM_001628.2 NP_001619.1 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 (aldose reductase) 140 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) GCCCACGTGTCCAGAATGTTG 0.458 9 327 --- --- --- --- DLGAP2 9228 broad.mit.edu 37 8 1616835 1616835 + Frame_Shift_Del DEL C C - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr8:1616835delC ENST00000421627.2 + 6 2045 c.1911delC c.(1909-1911)atfs p.I637fs NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 716 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCTCCTCCATCGGGATTCAGG 0.632 2 4 --- --- --- --- MYO3A 53904 broad.mit.edu 37 10 26463295 26463295 + Frame_Shift_Del DEL A A - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr10:26463295delA ENST00000265944.5 + 30 4268 c.4102delA c.(4102-4104)agfs p.K1368fs MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1368 IQ 3. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GCAGTTGAGGAAGGACAAGAT 0.433 76 160 --- --- --- --- CPNE8 144402 broad.mit.edu 37 12 39087640 39087640 + Splice_Site DEL C C - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:39087640delC ENST00000331366.5 - 15 1058 c.961_splice c.e15-1 p.G321_splice CPNE8_ENST00000538596.2_5'UTR|CPNE8_ENST00000360449.3_Splice_Site_p.G309_splice NM_153634.2 NP_705898.1 Q86YQ8 CPNE8_HUMAN copine VIII 321 VWFA. NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 21 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) AGCAGGGTTGCCTGATGACAG 0.348 31 80 --- --- --- --- DNAJC14 85406 broad.mit.edu 37 12 56221691 56221699 + In_Frame_Del DEL CCTGCCTGT CCTGCCTGT - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr12:56221691_56221699delCCTGCCTGT ENST00000357606.3 - 3 1033_1041 c.744_752delACAGGCAGG c.(742-753)ggc>gg p.GQAG248del DNAJC14_ENST00000317287.5_In_Frame_Del_p.GQAG248del|DNAJC14_ENST00000317269.3_In_Frame_Del_p.GQAG248del Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 248 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 CCACCAAAAGCCTGCCTGTCCAAGTTGAC 0.536 9 111 --- --- --- --- OR4Q3 441669 broad.mit.edu 37 14 20216093 20216094 + Frame_Shift_Ins INS - - T TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:20216093_20216094insT ENST00000331723.1 + 1 507_508 c.507_508insT c.(505-510)ttgtggfs p.LW169fs NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGCTGCCTTTCTGTGGGCCCAA 0.510 13 98 --- --- --- --- CLEC14A 161198 broad.mit.edu 37 14 38724524 38724525 + Frame_Shift_Ins INS - - A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr14:38724524_38724525insA ENST00000342213.2 - 1 1049_1050 c.703_704insT c.(703-705)ggafs p.G235fs NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 235 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GAGTTTGTCCCAGCGAGCGCCG 0.629 24 929 --- --- --- --- CDH11 1009 broad.mit.edu 37 16 64984878 64984878 + Frame_Shift_Del DEL C C - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:64984878delC ENST00000394156.3 - 12 2139 c.1686delG c.(1684-1686)cgfs p.R562fs CDH11_ENST00000566827.1_Frame_Shift_Del_p.R436fs|CDH11_ENST00000268603.4_Frame_Shift_Del_p.R562fs P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 562 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCTGCTTCTGCCGACTGAACC 0.597 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 15 41 --- --- --- --- JPH3 57338 broad.mit.edu 37 16 87678356 87678356 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr16:87678356delG ENST00000284262.2 + 2 1117 c.875delG c.(874-876)tgfs p.W292fs NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 292 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) GTGGGCGAGTGGAAGAACGAC 0.672 17 93 --- --- --- --- GAS2L2 246176 broad.mit.edu 37 17 34079564 34079564 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:34079564delG ENST00000254466.6 - 1 333 c.306delC c.(304-306)gcfs p.A103fs GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.A103fs NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 103 CH. cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTGGCTGGGCGGCCCCATTGC 0.617 54 159 --- --- --- --- ACACA 31 broad.mit.edu 37 17 35615290 35615290 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:35615290delG ENST00000353139.5 - 13 1987 c.1506delC c.(1504-1506)gcfs p.A502fs ACACA_ENST00000394406.2_Frame_Shift_Del_p.A465fs|ACACA_ENST00000360679.3_Frame_Shift_Del_p.A407fs|ACACA_ENST00000335166.5_Frame_Shift_Del_p.A387fs NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 465 Biotin carboxylation. 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) GAATCCCCATGGCAATCTGAA 0.363 26 76 --- --- --- --- HOXB3 3213 broad.mit.edu 37 17 46628126 46628126 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr17:46628126delG ENST00000470495.1 - 2 2313 c.866delC c.(865-867)cgfs p.P289fs HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000311626.4_Frame_Shift_Del_p.P289fs|HOXB3_ENST00000472863.1_Frame_Shift_Del_p.P216fs|HOXB3_ENST00000490677.1_Frame_Shift_Del_p.P155fs|HOXB3_ENST00000476342.1_Frame_Shift_Del_p.P289fs|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000489475.1_Frame_Shift_Del_p.P216fs|HOXB3_ENST00000485909.2_Frame_Shift_Del_p.P157fs|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000460160.1_Frame_Shift_Del_p.P157fs|HOXB3_ENST00000498678.1_Frame_Shift_Del_p.P289fs|HOXB-AS1_ENST00000502764.2_RNA P14651 HXB3_HUMAN homeobox B3 289 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 GGGTGGGGACGGGCTCTCGTA 0.677 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 161 --- --- --- --- ALPK2 115701 broad.mit.edu 37 18 56204617 56204617 + Frame_Shift_Del DEL G G - TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr18:56204617delG ENST00000361673.3 - 5 3015 c.2802delC c.(2800-2802)ccfs p.P934fs RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 934 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CTGAGTTGCTGGGGCTTGGCT 0.517 10 47 --- --- --- --- BPIFB4 149954 broad.mit.edu 37 20 31671619 31671619 + Frame_Shift_Del DEL G G - rs2424943 byFrequency TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx 377ab4af-0958-4b8b-ac0c-4cd49c1e4c2e eb55c8bb-5d1b-4274-9e54-adba5cd91626 g.chr20:31671619delG ENST00000375483.3 + 3 616 c.616delG c.(616-618)ggfs p.G207fs NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 207 Gly-rich. cytoplasm|extracellular region lipid binding TCTTGGAGGAGGGGGTGTCCT 0.652 10 152 --- --- --- ---