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 TMEM30A 55754 broad.mit.edu 37 6 75969155 75969155 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:75969155G>A ENST00000230461.6 - 5 922 c.593C>T c.(592-594)gCt>gTt p.A198V TMEM30A_ENST00000370050.5_Missense_Mutation_p.A79V|TMEM30A_ENST00000475111.2_Missense_Mutation_p.A162V NM_018247.3 NP_060717.1 Q9NV96 CC50A_HUMAN transmembrane protein 30A 198 integral to membrane 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 CTTTTTCAAAGCGATAGGTAT 0.343000 21 52 0 0 0.008871 0 0 COL1A1 1277 broad.mit.edu 37 17 48272431 48272431 + Missense_Mutation SNP C C G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:48272431C>G ENST00000225964.5 - 20 1448 c.1330G>C c.(1330-1332)Gac>Cac p.D444H NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 444 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) GCACCAGTGTCTCCTTTGCTG 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 46 73 0 0 0.014410 0 0 VWF 7450 broad.mit.edu 37 12 6103064 6103064 + Missense_Mutation SNP C C G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:6103064C>G ENST00000261405.5 - 37 6816 c.6562G>C c.(6562-6564)Ggg>Cgg p.G2188R NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2188 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) ACGCAGACCCCGTTGGTCCGA 0.557000 13 65 0 0 0.020292 0 0 KLF17 128209 broad.mit.edu 37 1 44595857 44595857 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:44595857G>A ENST00000372299.3 + 2 972 c.914G>A c.(913-915)cGc>cAc p.R305H KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 305 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) AGCCACCAGCGCAAGCACACA 0.557000 4 138 0 0 0.014758 0 0 SPOCK2 9806 broad.mit.edu 37 10 73822644 73822644 + Silent SNP C C T rs115217058 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:73822644C>T ENST00000373109.2 - 11 1593 c.1149G>A c.(1147-1149)tcG>tcA p.S383S SPOCK2_ENST00000317376.4_Silent_p.S383S|SPOCK2_ENST00000536168.1_Silent_p.S383S NM_001244950.1 NP_001231879.1 Q92563 TICN2_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 383 extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly proteinaceous extracellular matrix calcium ion binding endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CAAAGTCCCCCGAGAAGCCCA 0.667000 4 16 0 0 0.014758 0 0 OR10A3 26496 broad.mit.edu 37 11 7960190 7960190 + Missense_Mutation SNP C C T rs146552050 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:7960190C>T ENST00000360759.3 - 1 951 c.878G>A c.(877-879)cGa>cAa p.R293Q NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CTCACTGTTTCGTAAGCTATA 0.418000 16 20 0 0 0.006122 0 0 TRAV8-2 28684 broad.mit.edu 37 14 22315338 22315338 + RNA SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:22315338C>T ENST00000390434.3 + 0 501 GTGAAACCTCCTTCCACCTGA 0.507000 43 54 0 0 0.010771 0 0 CD300LB 124599 broad.mit.edu 37 17 72522183 72522183 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:72522183C>T ENST00000392621.1 - 2 189 c.185G>A c.(184-186)aGa>aAa p.R62K CD300LB_ENST00000314401.3_Missense_Mutation_p.R62K NM_174892.2 NP_777552.2 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 25 Ig-like V-type. integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1) 21 CTCTGGGGCTCTCACAGACTC 0.572000 44 117 0 0 0.014410 0 0 ZNF683 257101 broad.mit.edu 37 1 26691531 26691531 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:26691531G>A ENST00000436292.1 - 4 626 c.506C>T c.(505-507)cCc>cTc p.P169L ZNF683_ENST00000349618.3_Missense_Mutation_p.P169L|ZNF683_ENST00000403843.1_Missense_Mutation_p.P169L|ZNF683_ENST00000374204.1_Missense_Mutation_p.P169L Q8IZ20 ZN683_HUMAN zinc finger protein 683 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GAAAGCCAAGGGGCTGGGGCT 0.602000 7 21 0 0 0.003080 0 0 CSMD2 114784 broad.mit.edu 37 1 34174706 34174706 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:34174706C>T ENST00000373381.4 - 22 3735 c.3559G>A c.(3559-3561)Gaa>Aaa p.E1187K CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.E60K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1147 CUB 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) ACATCTCCTTCGGAGAGTTCG 0.428000 35 67 0 0 0.030466 0 0 DDR1 780 broad.mit.edu 37 6 30862335 30862335 + Missense_Mutation SNP G G T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:30862335G>T ENST00000324771.8 + 13 1948 c.1400G>T c.(1399-1401)gGg>gTg p.G467V DDR1_ENST00000376568.3_Missense_Mutation_p.G467V|DDR1_ENST00000376567.2_Missense_Mutation_p.G467V|DDR1_ENST00000418800.2_Missense_Mutation_p.G467V|DDR1_ENST00000452441.1_Missense_Mutation_p.G467V|DDR1_ENST00000513240.1_Missense_Mutation_p.G467V|DDR1_ENST00000454612.2_Missense_Mutation_p.G467V|DDR1_ENST00000376575.3_Missense_Mutation_p.G467V|DDR1_ENST00000508312.1_Missense_Mutation_p.G485V|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376569.3_Missense_Mutation_p.G467V|DDR1_ENST00000376570.4_Missense_Mutation_p.G467V|DDR1_ENST00000446312.1_3'UTR Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 467 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) TCTGTCCCTGGGGACACTATC 0.627000 4 113 3.59834e-05 3.66387e-05 0.021553 1 0 CCPG1 9236 broad.mit.edu 37 15 55652855 55652855 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:55652855C>T ENST00000310958.6 - 8 1414 c.1116G>A c.(1114-1116)agG>agA p.R372R CCPG1_ENST00000442196.3_Silent_p.R372R|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Silent_p.R372R NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 372 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) ACAGAGTCTCCCTTTGACTAA 0.398000 25 69 0 0 0.018920 0 0 CD101 9398 broad.mit.edu 37 1 117564359 117564359 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:117564359C>T ENST00000256652.4 + 7 2240 c.2182C>T c.(2182-2184)Ctg>Ttg p.L728L CD101_ENST00000369470.1_Silent_p.L728L NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 728 Ig-like C2-type 6. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GCTAAAGATCCTGGAGATGGA 0.393000 12 15 0 0 0.020292 0 0 RRBP1 6238 broad.mit.edu 37 20 17640672 17640672 + Nonsense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:17640672G>A ENST00000377813.1 - 3 784 c.481C>T c.(481-483)Cag>Tag p.Q161* RRBP1_ENST00000246043.4_Nonsense_Mutation_p.Q161*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.Q161*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.Q161*|RRBP1_ENST00000455029.2_Intron Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 161 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 GTGAGAACCTGGATGGAATTC 0.562000 12 16 0 0 0.016723 0 0 ATG2A 23130 broad.mit.edu 37 11 64673226 64673226 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:64673226G>A ENST00000421419.2 - 23 3473 c.3359C>T c.(3358-3360)tCt>tTt p.S1120F ATG2A_ENST00000377264.3_Missense_Mutation_p.S1120F Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1120 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 ATAGTCCACAGAGCAGGAGAA 0.632000 24 34 0 0 0.021523 0 0 ITGA2 3673 broad.mit.edu 37 5 52360772 52360772 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:52360772G>A ENST00000296585.5 + 14 1776 c.1633G>A c.(1633-1635)Ggc>Agc p.G545S NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 545 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) ATTTCTTGAAGGCCCCGAGGG 0.413000 52 63 0 0 0.014410 0 0 NAPRT1 93100 broad.mit.edu 37 8 144659263 144659263 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:144659263G>A ENST00000449291.2 - 5 947 c.653C>T c.(652-654)tCc>tTc p.S218F NAPRT1_ENST00000426292.3_Missense_Mutation_p.S218F|NAPRT1_ENST00000276844.7_Missense_Mutation_p.S218F|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Missense_Mutation_p.S218F Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain containing 1 218 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) GCCTGAAAAGGAAGTGACGAA 0.677000 26 37 0 0 0.027356 0 0 OR52I2 143502 broad.mit.edu 37 11 4608746 4608746 + Missense_Mutation SNP T T A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:4608746T>A ENST00000312614.4 + 1 726 c.704T>A c.(703-705)cTt>cAt p.L235H NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTTCCTCTCTTATGGTGGGC 0.483000 74 93 0 0 0.014410 0 0 EPB41L1 2036 broad.mit.edu 37 20 34776268 34776268 + Splice_Site SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:34776268G>A ENST00000338074.2 + 9 1034 c.e9-1 EPB41L1_ENST00000441639.1_Splice_Site|EPB41L1_ENST00000202028.5_Splice_Site|EPB41L1_ENST00000373946.3_Splice_Site|EPB41L1_ENST00000373941.1_Splice_Site|EPB41L1_ENST00000373950.2_Splice_Site NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) TTCTCATGCAGGACTCTGAGG 0.592000 41 117 0 0 0.014410 0 0 COL11A1 1301 broad.mit.edu 37 1 103356019 103356019 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:103356019G>A ENST00000358392.2 - 58 4697 c.4380C>T c.(4378-4380)tcC>tcT p.S1460S COL11A1_ENST00000512756.1_Silent_p.S1332S|COL11A1_ENST00000370096.3_Silent_p.S1448S|COL11A1_ENST00000353414.4_Silent_p.S1409S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1448 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTTCACCCTTGGAGCCAGGGT 0.338000 5 10 0 0 0.021553 0 0 LRP1B 53353 broad.mit.edu 37 2 141607771 141607771 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:141607771G>A ENST00000389484.3 - 29 5810 c.4839C>T c.(4837-4839)ttC>ttT p.F1613F NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1613 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) CAGATGCATCGAAGTCTATCA 0.373000 TSP Lung(27;0.18) 12 48 0 0 0.010729 0 0 ALS2CL 259173 broad.mit.edu 37 3 46716164 46716164 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:46716164G>A ENST00000318962.4 - 21 2404 c.2321C>T c.(2320-2322)aCg>aTg p.T774M ALS2CL_ENST00000415953.1_Missense_Mutation_p.T774M|ALS2CL_ENST00000383742.3_Missense_Mutation_p.T121M NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 774 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) CAGGTAGAGCGTGAAGAGCTC 0.567000 21 58 0 0 0.008871 0 0 HLA-G 3135 broad.mit.edu 37 6 29795861 29795861 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:29795861C>T ENST00000428701.1 + 3 289 c.111C>T c.(109-111)tcC>tcT p.S37S HLA-G_ENST00000376815.3_Silent_p.S37S|HLA-G_ENST00000376818.3_Silent_p.S37S|HLA-G_ENST00000360323.6_Silent_p.S37S|HLA-G_ENST00000376828.2_Silent_p.S42S NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 37 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 CCGCCGTGTCCCGGCCCGGCC 0.716000 6 19 0 0 0.029380 0 0 CDH10 1008 broad.mit.edu 37 5 24593395 24593395 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:24593395C>T ENST00000264463.4 - 2 712 c.205G>A c.(205-207)Gga>Aga p.G69R RP11-116O11.1_ENST00000510391.1_RNA NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 69 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TAATCAGATCCTGTATATTCT 0.338000 HNSCC(23;0.051) 5 63 0 0 0.029380 0 0 FBN1 2200 broad.mit.edu 37 15 48782180 48782180 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:48782180C>T ENST00000316623.5 - 25 3405 c.2950G>A c.(2950-2952)Gtc>Atc p.V984I NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 984 TB 5. V -> I (in MFS). heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GCTGCCCCGACGGAGCAGCAG 0.602000 21 52 0 0 0.012319 0 0 MMP13 4322 broad.mit.edu 37 11 102819836 102819836 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:102819836C>T ENST00000260302.3 - 7 997 c.969G>A c.(967-969)acG>acA p.T323T MMP13_ENST00000340273.4_Silent_p.T323T NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 323 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) AAAATGATTTCGTTAAAAACA 0.423000 15 31 0 0 0.020292 0 0 ASPM 259266 broad.mit.edu 37 1 197112160 197112160 + Nonsense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:197112160G>A ENST00000367409.4 - 3 1478 c.1222C>T c.(1222-1224)Cag>Tag p.Q408* ASPM_ENST00000294732.7_Nonsense_Mutation_p.Q408* NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 408 mitosis cytoplasm|nucleus calmodulin binding 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 CATGTTTGCTGAGATGTACAC 0.338000 22 49 0 0 0.012319 0 0 TRMT5 57570 broad.mit.edu 37 14 61446561 61446561 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:61446561G>A ENST00000261249.6 - 2 439 c.55C>T c.(55-57)Ctg>Ttg p.L19L RP11-193F5.1_ENST00000553946.1_RNA NM_020810.2 NP_065861.2 Q32P41 TRMT5_HUMAN tRNA methyltransferase 5 19 cytoplasm tRNA (guanine-N1-)-methyltransferase activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1) 11 OV - Ovarian serous cystadenocarcinoma(108;0.0873) TGGCTTTCCAGTTTCAGAAAT 0.358000 28 32 0 0 0.030593 0 0 GSG1L 146395 broad.mit.edu 37 16 27856321 27856321 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:27856321G>A ENST00000380898.2 - 4 696 c.147C>T c.(145-147)ctC>ctT p.L49L GSG1L_ENST00000447459.2_Silent_p.L204L|GSG1L_ENST00000395724.3_Silent_p.L153L|GSG1L_ENST00000380897.3_Silent_p.L49L|GSG1L_ENST00000569166.1_Silent_p.L49L Q6UXU4 GSG1L_HUMAN GSG1-like 204 integral to membrane endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4) 17 CCTCAGGACCGAGGCTCACGG 0.602000 9 20 0 0 0.004482 0 0 WDR53 348793 broad.mit.edu 37 3 196281221 196281221 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:196281221C>T ENST00000332629.5 - 4 1505 c.938G>A c.(937-939)gGc>gAc p.G313D WDR53_ENST00000433160.1_Missense_Mutation_p.G154D|WDR53_ENST00000429115.1_Missense_Mutation_p.G152D NM_182627.1 NP_872433.1 Q7Z5U6 WDR53_HUMAN WD repeat domain 53 313 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 13 all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00326) TAAAATGTTGCCATGTTCTTC 0.393000 33 80 0 0 0.019004 0 0 DNAH10 196385 broad.mit.edu 37 12 124330546 124330546 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:124330546G>A ENST00000409039.3 + 31 5330 c.5305G>A c.(5305-5307)Gaa>Aaa p.E1769K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1769 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GTTTGACTGGGAAAGTCAGTT 0.557000 41 121 0 0 0.011902 0 0 SCAND3 114821 broad.mit.edu 37 6 28542450 28542450 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:28542450G>A ENST00000452236.2 - 3 2649 c.2032C>T c.(2032-2034)Cca>Tca p.P678S NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 678 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 GGTGAAAATGGTGTCCCTGAT 0.403000 47 110 0 0 0.014410 0 0 ITGA11 22801 broad.mit.edu 37 15 68631854 68631854 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:68631854G>A ENST00000423218.2 - 11 1355 c.1260C>T c.(1258-1260)aaC>aaT p.N420N ITGA11_ENST00000315757.7_Silent_p.N420N Q9UKX5 ITA11_HUMAN integrin, alpha 11 420 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) ATGCACCATGGTTCTTGAGCT 0.622000 9 18 0 0 0.004482 0 0 HEATR1 55127 broad.mit.edu 37 1 236734652 236734652 + Splice_Site SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:236734652G>A ENST00000366582.3 - 28 4061 c.3948_splice c.e28+1 p.P1316_splice HEATR1_ENST00000366581.2_Splice_Site_p.P1235_splice NM_018072.5 NP_060542.4 Q9H583 HEAT1_HUMAN HEAT repeat containing 1 1316 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AACGCTTACCGGAAATATTCC 0.403000 9 20 0 0 0.006214 0 0 DCAF11 80344 broad.mit.edu 37 14 24586912 24586912 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:24586912C>T ENST00000446197.3 + 5 1174 c.447C>T c.(445-447)tcC>tcT p.S149S DCAF11_ENST00000559115.1_Silent_p.S149S|DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000396941.4_Silent_p.S123S|DCAF11_ENST00000396936.1_Intron NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 149 CUL4 RING ubiquitin ligase complex protein binding p.S149S(1) GAAGCTTCTCCCTTGGAGAAC 0.498000 42 64 0 0 0.011902 0 0 RIOK1 83732 broad.mit.edu 37 6 7403078 7403078 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:7403078C>T ENST00000379834.2 + 8 1222 c.715C>T c.(715-717)Cct>Tct p.P239S NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 239 Protein kinase. ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) TAAAGGAAACCCTAGGAAAAT 0.323000 8 20 0 0 0.004482 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603144 111603144 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:111603144C>T ENST00000431670.2 + 2 631 c.220C>T c.(220-222)Cct>Tct p.P74S PHLDB2_ENST00000481953.1_Missense_Mutation_p.P74S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.P101S|PHLDB2_ENST00000477695.1_Missense_Mutation_p.P74S|PHLDB2_ENST00000412622.1_Missense_Mutation_p.P74S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.P74S|PHLDB2_ENST00000478922.1_Missense_Mutation_p.P74S NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 74 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AAGCCCTTCTCCTTTGGGAAC 0.443000 69 154 0 0 0.014410 0 0 SPECC1 92521 broad.mit.edu 37 17 20013850 20013850 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:20013850G>A ENST00000395529.3 + 3 310 c.258G>A c.(256-258)acG>acA p.T86T SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395527.4_Silent_p.T86T|SPECC1_ENST00000261503.5_Silent_p.T86T NM_152904.4 NP_690868.3 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 86 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) CGGAGCTCACGGAGAGCCGCC 0.652000 11 16 0 0 0.010729 0 0 FCRL1 115350 broad.mit.edu 37 1 157771850 157771850 + Silent SNP G G A rs143378896 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:157771850G>A ENST00000358292.3 - 5 792 c.741C>T c.(739-741)atC>atT p.I247I FCRL1_ENST00000491942.1_Silent_p.I247I|FCRL1_ENST00000368176.3_Silent_p.I247I|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 247 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity p.I247I(3) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCCCCAGGGTGATATCCTCGT 0.577000 21 54 0 0 0.010504 0 0 MYH4 4622 broad.mit.edu 37 17 10366440 10366440 + Nonsense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:10366440G>A ENST00000255381.2 - 10 981 c.871C>T c.(871-873)Caa>Taa p.Q291* CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 291 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.Q291E(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GACAGGATTTGATAAAATATG 0.373000 15 19 0 0 0.007413 0 0 HCN1 348980 broad.mit.edu 37 5 45262146 45262146 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:45262146G>A ENST00000303230.4 - 8 2607 c.2550C>T c.(2548-2550)atC>atT p.I850I NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 850 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GGTTCGGGGGGATGGCTCCCG 0.637000 16 84 0 0 0.028581 0 0 CYP21A2 1589 broad.mit.edu 37 6 32008225 32008225 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:32008225C>T ENST00000418967.2 + 8 1140 c.982C>T c.(982-984)Cct>Tct p.P328S CYP21A2_ENST00000435122.2_Missense_Mutation_p.P298S NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 327 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 CGAACTGGGCCCTGGTGCCTC 0.677000 66 249 0 0 0.014410 0 0 ASNS 440 broad.mit.edu 37 7 97482507 97482507 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:97482507G>A ENST00000175506.4 - 13 1869 c.1341C>T c.(1339-1341)ctC>ctT p.L447L ASNS_ENST00000437628.1_Silent_p.L364L|ASNS_ENST00000394308.3_Silent_p.L447L|ASNS_ENST00000455086.1_Silent_p.L364L|ASNS_ENST00000394309.3_Silent_p.L447L|ASNS_ENST00000422745.1_Silent_p.L426L|ASNS_ENST00000444334.1_Silent_p.L426L NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 447 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCTCTCTCAGGAGATGTTTTT 0.383000 23 14 0 0 0.018920 0 0 TSC2 7249 broad.mit.edu 37 16 2134315 2134315 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:2134315C>T ENST00000219476.3 + 34 4722 c.4092C>T c.(4090-4092)tcC>tcT p.S1364S TSC2_ENST00000353929.4_Silent_p.S1321S|TSC2_ENST00000382538.6_Silent_p.S1249S|TSC2_ENST00000401874.2_Silent_p.S1297S|TSC2_ENST00000568454.1_Silent_p.S1308S|TSC2_ENST00000439673.2_Silent_p.S1261S|TSC2_ENST00000350773.4_Silent_p.S1341S NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 1364 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) GAGTCGTCTCCTCGGAGGGTG 0.647000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 13 34 0 0 0.028581 0 0 RECQL5 9400 broad.mit.edu 37 17 73627090 73627090 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:73627090C>T ENST00000317905.5 - 11 1708 c.1548_splice c.e11-1 p.G517_splice RECQL5_ENST00000423245.2_Splice_Site_p.G490_splice|RECQL5_ENST00000443199.2_5'UTR NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 517 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GGGTCTTTGCCCTGGAGGACA 0.592000 Other identified genes with known or suspected DNA repair function 14 39 0 0 0.024245 0 0 SNHG14 104472715 broad.mit.edu 37 15 25417710 25417710 + RNA SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:25417710C>T ENST00000549301.1 + 0 488 SNHG14_ENST00000553149.1_RNA ACTCTGGTCTCCTGCACTGAG 0.607000 13 34 0 0 0.016723 0 0 KCNQ3 3786 broad.mit.edu 37 8 133142162 133142162 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:133142162C>T ENST00000388996.4 - 15 2386 c.1966G>A c.(1966-1968)Gag>Aag p.E656K KCNQ3_ENST00000521134.1_Missense_Mutation_p.E536K|KCNQ3_ENST00000519445.1_Missense_Mutation_p.E644K NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 656 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.E656K(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGGTAATACTCCGTGACCTGC 0.498000 81 74 0 0 0.014410 0 0 CCR4 1233 broad.mit.edu 37 3 32995307 32995307 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:32995307G>A ENST00000330953.5 + 2 561 c.393G>A c.(391-393)atG>atA p.M131I NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 131 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TCATGCTCATGAGCATTGATA 0.483000 69 199 0 0 0.014410 0 0 ZNF438 220929 broad.mit.edu 37 10 31139069 31139069 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:31139069C>T ENST00000538351.1 - 7 872 c.118G>A c.(118-120)Gag>Aag p.E40K ZNF438_ENST00000442986.1_Missense_Mutation_p.E89K|ZNF438_ENST00000452305.1_Missense_Mutation_p.E79K|ZNF438_ENST00000361310.3_Missense_Mutation_p.E89K|ZNF438_ENST00000436087.2_Missense_Mutation_p.E89K|ZNF438_ENST00000444692.2_Missense_Mutation_p.E79K|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000331737.6_Missense_Mutation_p.E79K|ZNF438_ENST00000413025.1_Missense_Mutation_p.E89K NM_001143769.1 NP_001137241.1 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(175;0.0587) AATGTCCCCTCCTGGCCAGCA 0.522000 43 51 0 0 0.033182 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42375956 42375956 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:42375956C>T ENST00000290472.3 - 7 587 c.493G>A c.(493-495)Gat>Aat p.D165N NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 165 phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) AGATGCACATCCAGGCATGAC 0.607000 50 121 0 0 0.014410 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136287656 136287656 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:136287656C>T ENST00000371929.3 + 1 537 c.93C>T c.(91-93)tcC>tcT p.S31S ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371911.3_Silent_p.S31S|ADAMTS13_ENST00000371916.1_Silent_p.S31S|ADAMTS13_ENST00000356589.2_Silent_p.S31S|ADAMTS13_ENST00000355699.2_Silent_p.S31S NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 31 cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GGGGACCCTCCCATTTCCAGC 0.632000 41 25 0 0 0.036044 0 0 DGKI 9162 broad.mit.edu 37 7 137282635 137282635 + Missense_Mutation SNP T T A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:137282635T>A ENST00000453654.1 - 12 908 c.369A>T c.(367-369)aaA>aaT p.K123N DGKI_ENST00000446122.1_Missense_Mutation_p.K423N|DGKI_ENST00000424189.2_Missense_Mutation_p.K423N|DGKI_ENST00000288490.5_Missense_Mutation_p.K423N O75912 DGKI_HUMAN diacylglycerol kinase, iota 423 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GATTTGGTACTTTCCTATACA 0.418000 7 38 0 0 0.029380 0 0 ZNF462 58499 broad.mit.edu 37 9 109688243 109688243 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:109688243C>T ENST00000277225.5 + 3 2339 c.2050C>T c.(2050-2052)Cct>Tct p.P684S ZNF462_ENST00000457913.1_Missense_Mutation_p.P684S Q96JM2 ZN462_HUMAN zinc finger protein 462 684 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CAATGACTTTCCTCTAGATTT 0.438000 78 152 0 0 0.014410 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6087147 6087147 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:6087147C>T ENST00000409021.3 - 4 1283 c.834_splice c.e4+1 p.Q278_splice JAKMIP1_ENST00000409371.3_Splice_Site_p.Q113_splice|JAKMIP1_ENST00000282924.5_Splice_Site_p.Q278_splice|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Splice_Site_p.Q113_splice|JAKMIP1_ENST00000409831.1_Splice_Site_p.Q278_splice NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 278 Mediates association with microtubules. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TGCCCCTCACCTGGACGCCCA 0.612000 9 10 0 0 0.006214 0 0 CYP2B7P 1556 broad.mit.edu 37 19 41447447 41447447 + RNA SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:41447447G>A ENST00000599198.1 + 0 876 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 gaagagggagggaaaaggggt 0.517000 8 13 0 0 0.003080 0 0 PIK3CB 5291 broad.mit.edu 37 3 138417774 138417774 + Nonsense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:138417774C>T ENST00000477593.1 - 12 1818 c.1745G>A c.(1744-1746)tGg>tAg p.W582* PIK3CB_ENST00000289153.2_Nonsense_Mutation_p.W582*|PIK3CB_ENST00000544716.1_Nonsense_Mutation_p.W28* P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 582 PI3K helical. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 AAGTTTATTCCACTTGATTGA 0.373000 110 302 0 0 0.014410 0 0 IKBIP 121457 broad.mit.edu 37 12 99028092 99028092 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:99028092G>A ENST00000299157.4 - 2 652 c.279C>T c.(277-279)atC>atT p.I93I IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Silent_p.I93I NM_153687.3 NP_710154.1 Q70UQ0 IKIP_HUMAN IKBKB interacting protein 93 induction of apoptosis|response to X-ray endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2) 6 AAATTAAACTGATTTTACTTT 0.353000 7 24 0 0 0.003080 0 0 ENPP1 5167 broad.mit.edu 37 6 132201098 132201098 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:132201098C>T ENST00000360971.2 + 20 2044 c.2024C>T c.(2023-2025)tCc>tTc p.S675F NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 675 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TGTCTTCTTTCCCAGCACCAG 0.413000 30 59 0 0 0.009535 0 0 CHSY1 22856 broad.mit.edu 37 15 101719038 101719038 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:101719038G>A ENST00000254190.3 - 3 1439 c.964C>T c.(964-966)Cgc>Tgc p.R322C CHSY1_ENST00000543813.1_5'UTR NM_014918.4 NP_055733.2 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 322 chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1) 24 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GATATCTTGCGGCTCAGCATG 0.468000 23 37 0 0 0.021523 0 0 TPTE 7179 broad.mit.edu 37 21 10914408 10914408 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:10914408C>T ENST00000298232.7 - 20 1624 c.1257G>A c.(1255-1257)atG>atA p.M419I TPTE_ENST00000361285.4_Missense_Mutation_p.M437I|TPTE_ENST00000342420.5_Missense_Mutation_p.M399I|TPTE_ENST00000415664.2_5'UTR NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 437 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.M419I(1) 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) CCTTTTTCTCCATTTCTATTT 0.318000 4 48 0 0 0.009096 0 0 ZNF780B 163131 broad.mit.edu 37 19 40542123 40542123 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:40542123G>A ENST00000434248.1 - 5 708 c.643C>T c.(643-645)Cat>Tat p.H215Y ZNF780B_ENST00000221355.6_Missense_Mutation_p.H67Y NM_001005851.2 NP_001005851.1 Q9Y6R6 Z780B_HUMAN zinc finger protein 780B 215 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 23 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCACCAGTATGAAATTTCTGA 0.373000 11 39 0 0 0.013537 0 0 NRG2 9542 broad.mit.edu 37 5 139251407 139251407 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:139251407G>A ENST00000394770.1 - 4 1235 c.1011C>T c.(1009-1011)tcC>tcT p.S337S NRG2_ENST00000289409.4_Silent_p.S337S|NRG2_ENST00000361474.1_Silent_p.S337S|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000541337.1_Intron|NRG2_ENST00000340391.3_Silent_p.S134S|NRG2_ENST00000545385.1_Silent_p.S337S|NRG2_ENST00000289422.7_Silent_p.S337S|NRG2_ENST00000358522.3_Silent_p.S337S O14511 NRG2_HUMAN neuregulin 2 337 Ser/Thr-rich. embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCCGACCAGGATGACAGGG 0.577000 19 39 0 0 0.007413 0 0 AMBRA1 55626 broad.mit.edu 37 11 46465038 46465038 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:46465038C>T ENST00000458649.2 - 12 3050 c.2632_splice c.e12+1 p.A878_splice AMBRA1_ENST00000314845.3_Splice_Site_p.A788_splice|AMBRA1_ENST00000298834.3_Splice_Site_p.A818_splice|AMBRA1_ENST00000426438.1_Splice_Site_p.A849_splice|AMBRA1_ENST00000534300.1_Splice_Site_p.A818_splice|AMBRA1_ENST00000533727.1_Splice_Site_p.A759_splice|AMBRA1_ENST00000528950.1_Splice_Site_p.A849_splice Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 878 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) ATTGACTTACCATTACTGATT 0.458000 6 15 0 0 0.003080 0 0 CACNA1E 777 broad.mit.edu 37 1 181714493 181714493 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:181714493G>A ENST00000357570.5 + 26 3894 c.3582G>A c.(3580-3582)atG>atA p.M1194I CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000358338.5_Missense_Mutation_p.M1175I|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000367573.2_Intron|CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000360108.3_Intron Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1243 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity 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 ttaacagcatgaaattgggag 0.428000 11 51 0 0 0.013537 0 0 TNXB 7148 broad.mit.edu 37 6 32049920 32049920 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:32049920C>T ENST00000375244.3 - 9 3830 c.3629G>A c.(3628-3630)cGt>cAt p.R1210H TNXB_ENST00000375247.2_Missense_Mutation_p.R1210H P22105 TENX_HUMAN tenascin XB 1297 Fibronectin type-III 4. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AACAAATGAACGCTCGGGCCC 0.577000 8 503 0 0 0.003080 0 0 NOS1AP 9722 broad.mit.edu 37 1 162325096 162325096 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:162325096G>A ENST00000361897.5 + 7 1117 c.715G>A c.(715-717)Gat>Aat p.D239N NOS1AP_ENST00000530878.1_Missense_Mutation_p.D234N NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 239 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) AGGTGTGACTGATCTAGATGC 0.577000 27 91 0 0 0.009535 0 0 TTN 7273 broad.mit.edu 37 2 179404146 179404146 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:179404146C>T ENST00000589042.1 - 352 98870 c.98646G>A c.(98644-98646)ttG>ttA p.L32882L TTN_ENST00000591111.1_Silent_p.L31241L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.L23942L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.L24009L|TTN_ENST00000460472.2_Silent_p.L23817L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.L30314L|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 31241 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) CCTCAGATTTCAAGGGTTTGC 0.388000 22 26 0 0 0.014323 0 0 TET2 54790 broad.mit.edu 37 4 106158380 106158380 + Missense_Mutation SNP A A T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:106158380A>T ENST00000540549.1 + 3 4141 c.3281A>T c.(3280-3282)aAa>aTa p.K1094I TET2_ENST00000394764.1_Missense_Mutation_p.K1094I|TET2_ENST00000413648.2_Missense_Mutation_p.K1094I|TET2_ENST00000305737.2_Missense_Mutation_p.K1094I|TET2_ENST00000545826.1_Missense_Mutation_p.K1094I|TET2_ENST00000380013.4_Missense_Mutation_p.K1094I|TET2_ENST00000513237.1_Missense_Mutation_p.K1115I Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 1094 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.T1093fs*12(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) ACACCAACCAAAAGAACAGCT 0.388000 """Mis N, F""" MDS 20 23 0 0 0.008871 0 0 LRP1 4035 broad.mit.edu 37 12 57577163 57577163 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:57577163C>T ENST00000243077.3 + 35 6130 c.5662_splice c.e35-1 p.G1888_splice NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1888 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GTCTTTCAGGCGTAGGTTCCT 0.507000 OREG0021938 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 64 0 0 0.030593 0 0 SAMSN1 64092 broad.mit.edu 37 21 15873018 15873018 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:15873018C>T ENST00000285670.2 - 7 978 c.804G>A c.(802-804)atG>atA p.M268I SAMSN1_ENST00000400564.1_Missense_Mutation_p.M32I|SAMSN1_ENST00000400566.1_Missense_Mutation_p.M200I NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 200 SAM. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TCCACATCCCCATTGGTGTTT 0.378000 25 76 0 0 0.021523 0 0 ZHX2 22882 broad.mit.edu 37 8 123963790 123963790 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:123963790C>T ENST00000314393.4 + 3 875 c.40C>T c.(40-42)Cgg>Tgg p.R14W NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 14 cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) ATGCATGGTTCGGACATCACA 0.512000 13 32 0 0 0.013537 0 0 INVS 27130 broad.mit.edu 37 9 103035345 103035345 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:103035345G>A ENST00000262457.2 + 12 1956 c.1771G>A c.(1771-1773)Gat>Aat p.D591N INVS_ENST00000262456.2_Missense_Mutation_p.D591N|INVS_ENST00000541287.1_Missense_Mutation_p.D495N NM_014425.3 NP_055240.2 Q9Y283 INVS_HUMAN inversin 591 negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding p.D591F(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) GTTGAGAAAAGATGCTGCTGC 0.522000 28 75 0 0 0.024334 0 0 PSMC3 5702 broad.mit.edu 37 11 47446034 47446034 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:47446034G>A ENST00000298852.3 - 5 556 c.399C>T c.(397-399)ttC>ttT p.F133F PSMC3_ENST00000602866.1_Silent_p.F117F|PSMC3_ENST00000530912.1_Silent_p.F91F NM_002804.4 NP_002795.2 P17980 PRS6A_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 3 133 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1) 17 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) TCACAGGAAGGAAGTACGTCT 0.567000 14 13 0 0 0.020292 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856147 62856147 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:62856147G>A ENST00000584306.1 - 11 4647 c.4117C>T c.(4117-4119)Ctg>Ttg p.L1373L LRRC37A3_ENST00000400877.3_Silent_p.L411L|LRRC37A3_ENST00000339474.5_Silent_p.L491L|LRRC37A3_ENST00000334962.5_Silent_p.L350L|LRRC37A3_ENST00000319651.5_Silent_p.L1373L NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1373 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GATACTTCCAGAAAAGGATTT 0.383000 29 56 0 0 0.027356 0 0 KIAA1045 23349 broad.mit.edu 37 9 34976626 34976626 + Missense_Mutation SNP G G C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:34976626G>C ENST00000242315.3 + 5 820 c.738G>C c.(736-738)gaG>gaC p.E246D KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.E246D NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 246 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) AGCAAGAAGAGCAGGCGGCCC 0.612000 6 57 0 0 0.021553 0 0 INPP5A 3632 broad.mit.edu 37 10 134595410 134595410 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:134595410C>T ENST00000368594.3 + 15 1481 c.1204C>T c.(1204-1206)Cat>Tat p.H402Y NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 402 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) AGGTAAACCTCATGCCCATGT 0.577000 25 63 0 0 0.024334 0 0 OR5K3 403277 broad.mit.edu 37 3 98110431 98110431 + Missense_Mutation SNP T T A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:98110431T>A ENST00000383695.1 + 1 922 c.922T>A c.(922-924)Ttt>Att p.F308I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 GAAGAGAAAATTTTGTCACAT 0.269000 18 34 0 0 0.012319 0 0 TRBV30 28557 broad.mit.edu 37 7 142510988 142510988 + RNA SNP T T A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:142510988T>A ENST00000417977.2 - 0 96 AAGCCAGCCTTTCCTTCAGCT 0.577000 5 9 0 0 0.021553 0 0 TPO 7173 broad.mit.edu 37 2 1437227 1437227 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:1437227G>A ENST00000345913.4 + 4 288 c.197G>A c.(196-198)gGa>gAa p.G66E TPO_ENST00000382269.3_Missense_Mutation_p.G66E|TPO_ENST00000382201.3_Missense_Mutation_p.G66E|TPO_ENST00000539820.1_Missense_Mutation_p.G66E|TPO_ENST00000346956.3_Missense_Mutation_p.G66E|TPO_ENST00000337415.3_Missense_Mutation_p.G66E|TPO_ENST00000349624.3_Missense_Mutation_p.G66E|TPO_ENST00000329066.4_Missense_Mutation_p.G66E|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.G66E NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 66 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AAGAAAAGAGGAATCCTTTCT 0.363000 14 28 0 0 0.028581 0 0 RAG2 5897 broad.mit.edu 37 11 36614751 36614751 + Missense_Mutation SNP C C T rs139419162 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:36614751C>T ENST00000311485.3 - 2 1129 c.968G>A c.(967-969)gGa>gAa p.G323E NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 323 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding p.G323E(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) AGTTCCATTTCCCATGTTGCT 0.383000 Familial Hemophagocytic Lymphohistiocytosis 50 75 0 0 0.014410 0 0 LAMA3 3909 broad.mit.edu 37 18 21404449 21404449 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr18:21404449C>T ENST00000313654.9 + 21 2732 c.2491C>T c.(2491-2493)Cct>Tct p.P831S LAMA3_ENST00000399516.3_Missense_Mutation_p.P831S NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 831 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTCACTGTCCCTGGAAATGG 0.433000 32 95 0 0 0.012213 0 0 TNRC6C 57690 broad.mit.edu 37 17 76083169 76083169 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:76083169C>T ENST00000335749.4 + 13 4357 c.3788C>T c.(3787-3789)cCt>cTt p.P1263L TNRC6C_ENST00000301624.4_Missense_Mutation_p.P1266L|TNRC6C_ENST00000588061.1_Missense_Mutation_p.P1266L|TNRC6C_ENST00000544502.1_Missense_Mutation_p.P1263L|TNRC6C_ENST00000588847.1_Missense_Mutation_p.P1263L|TNRC6C_ENST00000541771.1_Missense_Mutation_p.P1266L NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 1266 gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GCTCCTTACCCTCTCGGTGAG 0.577000 49 104 0 0 0.014410 0 0 RHOH 399 broad.mit.edu 37 4 40245490 40245490 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:40245490G>A ENST00000381799.4 + 3 1208 c.484G>A c.(484-486)Gtg>Atg p.V162M RHOH_ENST00000505618.1_Missense_Mutation_p.V162M NM_001278363.1|NM_001278365.1|NM_004310.3 NP_001265292.1|NP_001265294.1|NP_004301.1 Q15669 RHOH_HUMAN ras homolog family member H 162 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 AGTACAGCAGGTGTTTGAGTG 0.557000 11 13 0 0 0.013537 0 0 CALCB 797 broad.mit.edu 37 11 15098931 15098931 + Silent SNP C C T rs145827382 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:15098931C>T ENST00000523376.1 + 9 1619 c.357C>T c.(355-357)ttC>ttT p.F119F CALCB_ENST00000533448.1_Silent_p.F108F|CALCB_ENST00000324229.6_Silent_p.F108F P10092 CALCB_HUMAN calcitonin-related polypeptide beta 108 cellular calcium ion homeostasis|signal transduction|vasodilation extracellular region|soluble fraction neuropeptide hormone activity p.F108F(1) endometrium(1)|large_intestine(1)|lung(1)|skin(2) 5 AGAGCAACTTCGTGCCCACCA 0.577000 13 29 0 0 0.016723 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047722 46047722 + Nonsense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:46047722C>T ENST00000397911.3 + 1 683 c.634C>T c.(634-636)Cag>Tag p.Q212* KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 212 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 GTGCTGCCAGCAGTCTGGCTG 0.637000 96 205 0 0 0.014410 0 0 CCNB3 85417 broad.mit.edu 37 X 50053615 50053615 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:50053615C>T ENST00000376042.1 + 6 2744 c.2446C>T c.(2446-2448)Ctc>Ttc p.L816F CCNB3_ENST00000276014.7_Missense_Mutation_p.L816F|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 816 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GGAAGCTGTCCTCAAGGAGCC 0.567000 19 7 0 0 0.014323 0 0 ACSF2 80221 broad.mit.edu 37 17 48538069 48538069 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:48538069C>T ENST00000427954.2 + 3 278 c.235C>T c.(235-237)Ccc>Tcc p.P79S ACSF2_ENST00000502667.1_Missense_Mutation_p.P54S|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000504392.1_Missense_Mutation_p.P54S|ACSF2_ENST00000300441.4_Missense_Mutation_p.P54S Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 54 fatty acid metabolic process mitochondrion ATP binding|ligase activity endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1) 13 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GGTCTCCACGCCCATCGGAGG 0.577000 5 21 0 0 0.003080 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626671 140626671 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:140626671G>A ENST00000231173.3 + 1 1525 c.1525G>A c.(1525-1527)Gac>Aac p.D509N NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 509 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATTAACACGGACAACGGCCA 0.677000 24 71 0 0 0.016522 0 0 ARL9 132946 broad.mit.edu 37 4 57389959 57389959 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:57389959C>T ENST00000360096.2 + 4 603 c.289C>T c.(289-291)Ctg>Ttg p.L97L NM_206919.1 NP_996802.1 Q6T311 ARL9_HUMAN ADP-ribosylation factor-like 9 161 GTP binding lung(2) 2 Glioma(25;0.08)|all_neural(26;0.101) TGGAACCTACCTGACTAAGAA 0.468000 14 19 0 0 0.016723 0 0 SERPINI2 5276 broad.mit.edu 37 3 167184856 167184856 + Silent SNP T T C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:167184856T>C ENST00000476257.1 - 4 763 c.465A>G c.(463-465)gaA>gaG p.E155E SERPINI2_ENST00000471111.1_Silent_p.E155E|SERPINI2_ENST00000461846.1_Silent_p.E155E|SERPINI2_ENST00000264677.4_Silent_p.E155E O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 155 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 CTGTTTTTCTTTCTACCCAGG 0.323000 9 47 0 0 0.004482 0 0 APBA1 320 broad.mit.edu 37 9 72067160 72067160 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:72067160G>A ENST00000265381.4 - 9 2068 c.1846C>T c.(1846-1848)Ctc>Ttc p.L616F NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 616 PID. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TTGGCCCTGAGGAATTCCTGG 0.527000 26 72 0 0 0.024334 0 0 STON1 11037 broad.mit.edu 37 2 48809496 48809496 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:48809496C>T ENST00000309835.3 + 1 1734 c.1724C>T c.(1723-1725)cCa>cTa p.P575L STON1_ENST00000406226.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P575L|STON1_ENST00000404752.1_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P575L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P575L stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTTCCTGTCCCATCGCAGTGG 0.493000 36 99 0 0 0.017118 0 0 ADCY1 107 broad.mit.edu 37 7 45725676 45725676 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:45725676C>T ENST00000297323.7 + 13 2211 c.2189C>T c.(2188-2190)gCc>gTc p.A730V NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 730 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) ACACACCATGCCCTGCTCTGC 0.632000 15 53 0 0 0.020292 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178554984 178554984 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:178554984G>A ENST00000251582.7 - 17 2694 c.2593C>T c.(2593-2595)Ccg>Tcg p.P865S NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 865 TSP type-1 2. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TTGGAGCACGGAGACCACTTC 0.582000 28 67 0 0 0.009535 0 0 TOX2 84969 broad.mit.edu 37 20 42694499 42694499 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:42694499C>T ENST00000358131.5 + 6 1262 c.1054C>T c.(1054-1056)Cct>Tct p.P352S TOX2_ENST00000435864.2_Missense_Mutation_p.P248S|TOX2_ENST00000372999.1_Missense_Mutation_p.P328S|TOX2_ENST00000423191.1_Missense_Mutation_p.P328S|TOX2_ENST00000341197.3_Missense_Mutation_p.P370S NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TGGGGCCTCCCCTGCCAGCCT 0.697000 21 69 0 0 0.012319 0 0 USP31 57478 broad.mit.edu 37 16 23079464 23079464 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:23079464G>A ENST00000219689.7 - 16 3961 c.3962C>T c.(3961-3963)cCc>cTc p.P1321L USP31_ENST00000567975.1_Missense_Mutation_p.P614L NM_020718.3 NP_065769.3 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1321 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CGGAGACGAGGGAACTCCAGA 0.507000 34 88 0 0 0.021022 0 0 PTTG2 10744 broad.mit.edu 37 4 37962316 37962316 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:37962316C>T ENST00000504686.1 + 1 261 c.261C>T c.(259-261)agC>agT p.S87S TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron NM_006607.2 NP_006598.2 Q9NZH5 PTTG2_HUMAN pituitary tumor-transforming 2 87 chromosome organization|DNA metabolic process cytoplasm|nucleus SH3 domain binding breast(1)|endometrium(1)|lung(4)|skin(1) 7 AACAGCCAAGCTTTTCTGCCA 0.418000 19 36 0 0 0.007413 0 0 TAOK1 57551 broad.mit.edu 37 17 27802791 27802791 + Splice_Site SNP T T C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:27802791T>C ENST00000261716.3 + 4 825 c.e4+2 TAOK1_ENST00000536202.1_Splice_Site NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) ACAGCATGGGTTGGTATTTGT 0.338000 6 26 0 0 0.021553 0 0 CELF1 10658 broad.mit.edu 37 11 47498455 47498455 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:47498455C>T ENST00000395290.2 - 9 952 c.943G>A c.(943-945)Gga>Aga p.G315R CELF1_ENST00000395292.2_Missense_Mutation_p.G313R|CELF1_ENST00000361904.3_Missense_Mutation_p.G313R|CELF1_ENST00000310513.5_Missense_Mutation_p.G312R|CELF1_ENST00000358597.3_Missense_Mutation_p.G316R|CELF1_ENST00000531165.1_Missense_Mutation_p.G344R|CELF1_ENST00000532048.1_Missense_Mutation_p.G342R NM_001025596.2|NM_001172640.1 NP_001020767.1|NP_001166111.1 Q92879 CELF1_HUMAN CUGBP, Elav-like family member 1 316 embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference cytoplasm|nucleus|ribonucleoprotein complex BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2) 18 TGCAGGGCTCCAAGTGAGGCT 0.502000 28 52 0 0 0.009535 0 0 AMFR 267 broad.mit.edu 37 16 56397837 56397837 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:56397837G>A ENST00000290649.5 - 13 1990 c.1780C>T c.(1780-1782)Cgc>Tgc p.R594C NM_001144.5 NP_001135.3 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor, E3 ubiquitin protein ligase 594 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 ACTCACTTGCGAGCTTGCTGG 0.542000 17 22 0 0 0.014323 0 0 OR6C65 403282 broad.mit.edu 37 12 55795184 55795184 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:55795184G>A ENST00000379665.2 + 1 971 c.872G>A c.(871-873)aGa>aAa p.R291K NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R291K(1) cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TATACCTTAAGAAACCAGCAG 0.358000 12 36 0 0 0.020292 0 0 PIK3R5 23533 broad.mit.edu 37 17 8784242 8784242 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:8784242C>T ENST00000447110.1 - 18 2599 c.2475G>A c.(2473-2475)aaG>aaA p.K825K PIK3R5_ENST00000584803.1_Silent_p.K824K|PIK3R5_ENST00000581552.1_Silent_p.K825K NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 825 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 TCTGCAGGATCTTTCTCTCAT 0.567000 22 49 0 0 0.012319 0 0 ZNF492 57615 broad.mit.edu 37 19 22847002 22847002 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:22847002C>T ENST00000456783.2 + 4 775 c.531C>T c.(529-531)gcC>gcT p.A177A NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) GTGGGAAAGCCTATAATGAGA 0.373000 3 14 0 0 0.004672 0 0 VAC14 55697 broad.mit.edu 37 16 70778390 70778390 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:70778390G>A ENST00000261776.5 - 13 1724 c.1464C>T c.(1462-1464)ctC>ctT p.L488L NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 488 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) GGCTGGCCTGGAGGTCAGGGC 0.647000 26 56 0 0 0.030593 0 0 SLC13A3 64849 broad.mit.edu 37 20 45239169 45239169 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:45239169G>A ENST00000279027.4 - 3 475 c.457C>T c.(457-459)Ccc>Tcc p.P153S SLC13A3_ENST00000413164.2_Missense_Mutation_p.P153S|SLC13A3_ENST00000372121.1_Missense_Mutation_p.P153S|SLC13A3_ENST00000396360.1_Missense_Mutation_p.P106S|SLC13A3_ENST00000290317.5_Missense_Mutation_p.P106S|SLC13A3_ENST00000472148.1_Missense_Mutation_p.P106S|SLC13A3_ENST00000417157.2_Missense_Mutation_p.P106S|SLC13A3_ENST00000495082.1_Missense_Mutation_p.P106S|SLC13A3_ENST00000339636.3_Missense_Mutation_p.P153S|SLC13A3_ENST00000435032.1_5'UTR NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 153 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) TTGGCAATGGGAAGCATCATG 0.547000 64 136 0 0 0.014410 0 0 C8B 732 broad.mit.edu 37 1 57417821 57417821 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:57417821G>A ENST00000543257.1 - 6 976 c.410C>T c.(409-411)cCa>cTa p.P137L C8B_ENST00000371237.4_Missense_Mutation_p.P189L|C8B_ENST00000535057.1_Missense_Mutation_p.P127L NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 189 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 ATCAAGAACTGGGCCCTCAAA 0.468000 42 106 0 0 0.014410 0 0 TMEM131 23505 broad.mit.edu 37 2 98373814 98373814 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:98373814G>A ENST00000186436.5 - 41 5628 c.5400C>T c.(5398-5400)tcC>tcT p.S1800S NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1800 Ser-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 ATGGAGTGGTGGACCACAGGC 0.597000 21 80 0 0 0.014323 0 0 LARP1 23367 broad.mit.edu 37 5 154173503 154173503 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:154173503C>T ENST00000336314.4 + 6 805 c.781C>T c.(781-783)Cgt>Tgt p.R261C NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 338 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGCTTCCTTCCGTGGCCGTGG 0.682000 5 57 0 0 0.014758 0 0 SLC16A14 151473 broad.mit.edu 37 2 230911305 230911305 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:230911305C>T ENST00000295190.4 - 4 995 c.537G>A c.(535-537)ctG>ctA p.L179L NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 179 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) ACAGGTACTTCAGCAGCACAG 0.587000 40 43 0 0 0.011902 0 0 DCN 1634 broad.mit.edu 37 12 91558410 91558410 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:91558410C>T ENST00000052754.5 - 3 797 c.296G>A c.(295-297)gGa>gAa p.G99E DCN_ENST00000441303.2_Missense_Mutation_p.G99E|DCN_ENST00000547568.2_Intron|DCN_ENST00000303320.3_Missense_Mutation_p.G99E|DCN_ENST00000456569.2_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.G99E|DCN_ENST00000228329.5_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.G99E|DCN_ENST00000420120.2_Intron|DCN_ENST00000425043.1_Intron NM_001920.3 NP_001911.1 P07585 PGS2_HUMAN decorin 99 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 CTTAAAGTCTCCATCTTTGAT 0.363000 14 27 0 0 0.020292 0 0 INPP1 3628 broad.mit.edu 37 2 191235953 191235953 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:191235953C>T ENST00000392329.2 + 7 1725 c.1025C>T c.(1024-1026)cCa>cTa p.P342L INPP1_ENST00000322522.4_Missense_Mutation_p.P342L|INPP1_ENST00000541441.1_Missense_Mutation_p.P342L NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 342 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) GAAAGAAATCCAGAAACAGGG 0.498000 4 68 0 0 0.009096 0 0 TTC17 55761 broad.mit.edu 37 11 43513659 43513659 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:43513659C>T ENST00000039989.4 + 23 3254 c.3240C>T c.(3238-3240)atC>atT p.I1080I NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 1080 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 CAGTAGAGATCGCACCACACT 0.522000 46 63 0 0 0.011902 0 0 TAOK2 9344 broad.mit.edu 37 16 29998830 29998830 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:29998830G>A ENST00000308893.4 + 16 4280 c.3237G>A c.(3235-3237)cgG>cgA p.R1079R TAOK2_ENST00000416441.2_Silent_p.R906R|TAOK2_ENST00000543033.1_Silent_p.R966R|TAOK2_ENST00000279394.3_Intron NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1079 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GGGTGCGCCGGGGCATATCTC 0.692000 37 71 0 0 0.017118 0 0 ZIK1 284307 broad.mit.edu 37 19 58101701 58101701 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:58101701G>A ENST00000597850.1 + 4 737 c.522G>A c.(520-522)aaG>aaA p.K174K ZIK1_ENST00000599456.1_Silent_p.K119K|ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Silent_p.K161K NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGGTTGGAAAGGACCTTCCAG 0.498000 20 60 0 0 0.008871 0 0 NRG3 10718 broad.mit.edu 37 10 83635601 83635601 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:83635601C>T ENST00000404547.1 + 1 505 c.505C>T c.(505-507)Ccc>Tcc p.P169S NRG3_ENST00000372141.2_Missense_Mutation_p.P169S P56975 NRG3_HUMAN neuregulin 3 169 Ser/Thr-rich. regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity 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) CACTCGCTTCCCCGGGCACCG 0.746000 14 26 0 0 0.024245 0 0 DSP 1832 broad.mit.edu 37 6 7578716 7578716 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:7578716G>A ENST00000379802.3 + 22 3346 c.3005G>A c.(3004-3006)cGg>cAg p.R1002Q DSP_ENST00000418664.2_Missense_Mutation_p.R1002Q NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1002 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GTTCATGCTCGGTACATTGAA 0.343000 32 52 0 0 0.013726 0 0 RHOU 58480 broad.mit.edu 37 1 228879439 228879439 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:228879439G>A ENST00000366691.3 + 3 1395 c.729G>A c.(727-729)atG>atA p.M243I NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 243 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) CAGATAAAATGAAAAACCTCT 0.443000 19 44 0 0 0.008871 0 0 RSAD2 91543 broad.mit.edu 37 2 7027287 7027287 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:7027287C>T ENST00000382040.3 + 3 866 c.730C>T c.(730-732)Cgc>Tgc p.R244C RSAD2_ENST00000541728.1_Missense_Mutation_p.R137C NM_080657.4 NP_542388.2 Q8WXG1 RSAD2_HUMAN radical S-adenosyl methionine domain containing 2 244 defense response to virus endoplasmic reticulum membrane|Golgi apparatus catalytic activity|iron-sulfur cluster binding|metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1) 20 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) OV - Ovarian serous cystadenocarcinoma(76;0.191) AAACCCTGTCCGCTGGAAAGT 0.383000 5 24 0 0 0.029380 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52147156 52147156 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:52147156G>A ENST00000360844.6 - 5 929 c.888C>T c.(886-888)tcC>tcT p.S296S SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 296 Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) TTGAGGTCTGGGAAGGATTGA 0.617000 22 55 0 0 0.014323 0 0 PGLS 25796 broad.mit.edu 37 19 17628557 17628557 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:17628557G>A ENST00000252603.2 + 4 581 c.537G>A c.(535-537)ccG>ccA p.P179P NM_012088.2 NP_036220.1 O95336 6PGL_HUMAN 6-phosphogluconolactonase 179 cytosol 6-phosphogluconolactonase activity endometrium(1)|lung(1) 2 GTGACTCCCCGAAGCCACCGC 0.562000 22 60 0 0 0.014323 0 0 CES4A 283848 broad.mit.edu 37 16 67039259 67039259 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:67039259C>T ENST00000540947.2 + 11 1462 c.1278C>T c.(1276-1278)ttC>ttT p.F426F CES4A_ENST00000326686.5_Silent_p.F426F|CES4A_ENST00000541479.1_Silent_p.F422F|CES4A_ENST00000540579.1_Silent_p.F328F|CES4A_ENST00000338718.4_Silent_p.F449F|CES4A_ENST00000535696.1_Silent_p.F332F|CES4A_ENST00000398354.1_Silent_p.F399F NM_173815.6 NP_776176.5 Q5XG92 EST4A_HUMAN carboxylesterase 4A 426 extracellular region carboxylesterase activity p.F399L(1) large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 ATGCCACTTTCGTGTATGCCA 0.532000 41 65 0 0 0.036044 0 0 PITPNM2 57605 broad.mit.edu 37 12 123477172 123477172 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:123477172G>A ENST00000280562.5 - 15 2483 c.2278C>T c.(2278-2280)Cac>Tac p.H760Y PITPNM2_ENST00000542749.1_Missense_Mutation_p.H760Y|PITPNM2_ENST00000392428.1_Missense_Mutation_p.H481Y|PITPNM2_ENST00000320201.4_Missense_Mutation_p.H760Y Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 760 DDHD. metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TCCGCGGGGTGGAAGAGGTTG 0.682000 35 122 0 0 0.021022 0 0 OR5M9 390162 broad.mit.edu 37 11 56230826 56230826 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:56230826G>A ENST00000279791.1 - 1 51 c.52C>T c.(52-54)Cgt>Tgt p.R18C NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) AGCTCCTGACGACAGGTCAGC 0.428000 12 14 0 0 0.020292 0 0 AP1M1 8907 broad.mit.edu 37 19 16338374 16338374 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:16338374C>T ENST00000291439.3 + 7 1138 c.689C>T c.(688-690)tCc>tTc p.S230F AP1M1_ENST00000541844.1_Missense_Mutation_p.S158F|AP1M1_ENST00000429941.2_Missense_Mutation_p.S230F|AP1M1_ENST00000590756.1_Missense_Mutation_p.S158F|AP1M1_ENST00000444449.2_Missense_Mutation_p.S242F NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 230 MHD. cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 AAAAGCAAATCCGTGGAGCTG 0.602000 38 89 0 0 0.025465 0 0 ITGAX 3687 broad.mit.edu 37 16 31384650 31384650 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:31384650G>A ENST00000268296.4 + 20 2568 c.2447G>A c.(2446-2448)gGa>gAa p.G816E ITGAX_ENST00000562522.1_Missense_Mutation_p.G816E NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 816 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GACTCCTACGGAACCACCATC 0.612000 27 47 0 0 0.030593 0 0 MLKL 197259 broad.mit.edu 37 16 74716619 74716619 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:74716619C>T ENST00000308807.7 - 6 1349 c.886G>A c.(886-888)Gat>Aat p.D296N MLKL_ENST00000306247.7_Intron NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 296 Protein kinase. ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 TTTTCCCTATCCAACAGCTCC 0.572000 21 56 0 0 0.010504 0 0 PRR5-ARHGAP8 553158 broad.mit.edu 37 22 45255633 45255633 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:45255633C>T ENST00000352766.7 + 16 1530 c.1530C>T c.(1528-1530)gtC>gtT p.V510V ARHGAP8_ENST00000389773.5_Silent_p.V422V|ARHGAP8_ENST00000517296.3_Silent_p.V510V|ARHGAP8_ENST00000336963.4_Intron|ARHGAP8_ENST00000356099.6_Silent_p.V300V|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.V431V|ARHGAP8_ENST00000389774.2_Silent_p.V331V breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8) 30 GCCTGCGTGTCACTGGCTGCC 0.667000 32 30 0 0 0.017118 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92706125 92706125 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:92706125C>T ENST00000318445.6 + 10 2107 c.1893C>T c.(1891-1893)atC>atT p.I631I SLCO3A1_ENST00000424469.2_Silent_p.I631I|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|RP11-152L20.3_ENST00000561674.1_RNA NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 631 sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) GCATCGCCATCGCGCTCAAAT 0.552000 20 58 0 0 0.014323 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102537323 102537323 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:102537323G>A ENST00000321521.9 + 30 4230 c.3657G>A c.(3655-3657)ggG>ggA p.G1219G PPIP5K2_ENST00000414217.1_Silent_p.G1219G|PPIP5K2_ENST00000358359.3_Silent_p.G1240G O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 1240 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AAAACACTGGGAAAAAGAAAT 0.318000 9 12 0 0 0.004482 0 0 MYO10 4651 broad.mit.edu 37 5 16764485 16764485 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:16764485G>A ENST00000513610.1 - 12 1654 c.1200C>T c.(1198-1200)tcC>tcT p.S400S NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 400 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CCATGGCCAGGGAGTCCCTGC 0.552000 13 50 0 0 0.013537 0 0 CYP4A11 1579 broad.mit.edu 37 1 47395968 47395968 + Missense_Mutation SNP T T A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:47395968T>A ENST00000310638.4 - 12 1410 c.1379A>T c.(1378-1380)aAa>aTa p.K460I CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371904.4_Missense_Mutation_p.K461I NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 460 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GGCAAATTGTTTCCCGATGCA 0.582000 31 88 0 0 0.010818 0 0 MYO15A 51168 broad.mit.edu 37 17 18046115 18046115 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:18046115C>T ENST00000205890.5 + 25 6209 c.5871C>T c.(5869-5871)tcC>tcT p.S1957S NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1957 IQ 3.|Neck or regulatory domain. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AGTTCCGGTCCCTGGTACACG 0.597000 3 7 0 0 0.014758 0 0 ARGFX 503582 broad.mit.edu 37 3 121305189 121305189 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:121305189C>T ENST00000334384.3 + 4 700 c.690C>T c.(688-690)atC>atT p.I230I NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 230 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) TATTCCAAATCATAGAACTGT 0.453000 42 113 0 0 0.027894 0 0 SNAPC4 6621 broad.mit.edu 37 9 139272679 139272679 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:139272679G>A ENST00000298532.2 - 21 3968 c.3600C>T c.(3598-3600)ccC>ccT p.P1200P NM_003086.2 NP_003077.2 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, polypeptide 4, 190kDa 1200 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) CGGACCAAGGGGGTTCTGCTT 0.682000 6 22 0 0 0.029380 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146619 156146619 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:156146619C>T ENST00000368285.3 + 15 2384 c.2117C>T c.(2116-2118)cCa>cTa p.P706L SEMA4A_ENST00000368282.1_Missense_Mutation_p.P706L|SEMA4A_ENST00000368284.1_Missense_Mutation_p.P574L|SEMA4A_ENST00000355014.2_Missense_Mutation_p.P706L|SEMA4A_ENST00000368286.2_Missense_Mutation_p.P574L NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 706 axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) GTGGCCTCCCCATTGAGAGCA 0.622000 24 51 0 0 0.018920 0 0 KCNH6 81033 broad.mit.edu 37 17 61611504 61611504 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:61611504C>T ENST00000583023.1 + 5 944 c.933C>T c.(931-933)ttC>ttT p.F311F KCNH6_ENST00000581784.1_Silent_p.F311F|KCNH6_ENST00000456941.2_Silent_p.F311F|KCNH6_ENST00000580652.1_Silent_p.F311F|KCNH6_ENST00000314672.5_Silent_p.F311F NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 311 regulation of transcription, DNA-dependent|signal transduction p.F311F(1) breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) ACATCATGTTCGTCGTGGACA 0.587000 102 163 0 0 0.014410 0 0 RNF139 11236 broad.mit.edu 37 8 125498977 125498977 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:125498977G>A ENST00000303545.3 + 2 1459 c.1087G>A c.(1087-1089)Gtc>Atc p.V363I NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 363 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ATTAACTGCAGTCCTGCATTT 0.393000 67 228 0 0 0.014410 0 0 PRR23B 389151 broad.mit.edu 37 3 138739227 138739227 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:138739227C>T ENST00000329447.5 - 1 541 c.277G>A c.(277-279)Ggt>Agt p.G93S MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 93 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GTGTGTCCACCGAGAGACACT 0.662000 20 53 0 0 0.010504 0 0 SEMA3A 10371 broad.mit.edu 37 7 83764220 83764220 + Missense_Mutation SNP T T A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:83764220T>A ENST00000265362.3 - 2 474 c.160A>T c.(160-162)Agc>Tgc p.S54C SEMA3A_ENST00000436949.1_Missense_Mutation_p.S54C NM_006080.2 NP_006071.1 Q14563 SEM3A_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A 54 Sema. axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 TAACTGGAGCTGTTGGCCAAG 0.398000 12 57 0 0 0.024245 0 0 TMEM8C 389827 broad.mit.edu 37 9 136384048 136384048 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:136384048C>T ENST00000339996.3 - 3 448 c.347G>A c.(346-348)gGg>gAg p.G116E TMEM8C_ENST00000413714.1_5'UTR NM_001080483.2 NP_001073952.1 A6NI61 TMM8C_HUMAN transmembrane protein 8C 116 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 CGAGTACACCCCGTAGCCCCA 0.617000 25 61 0 0 0.021523 0 0 TRPM2 7226 broad.mit.edu 37 21 45784067 45784067 + Nonsense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:45784067C>T ENST00000397928.1 + 3 770 c.325C>T c.(325-327)Cag>Tag p.Q109* TRPM2_ENST00000300482.5_Nonsense_Mutation_p.Q109*|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.Q109*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.Q109* NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 109 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity 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 CCACACCTTCCAGGGCACACA 0.572000 27 44 0 0 0.024334 0 0 GP1BA 2811 broad.mit.edu 37 17 4836270 4836270 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:4836270C>T ENST00000329125.5 + 2 446 c.371C>T c.(370-372)tCc>tTc p.S124F NM_000173.5 NP_000164.5 E7ES66 E7ES66_HUMAN glycoprotein Ib (platelet), alpha polypeptide 124 central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1) 20 CTGGACGTCTCCTTCAACCGG 0.607000 8 87 0 0 0.006214 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725347 140725347 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:140725347G>A ENST00000253812.6 + 1 1747 c.1747G>A c.(1747-1749)Gag>Aag p.E583K PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCTCCGCAGAGCCCGGCTA 0.682000 29 79 0 0 0.009535 0 0 NCAM2 4685 broad.mit.edu 37 21 22838993 22838993 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:22838993G>A ENST00000400546.1 + 13 1970 c.1721G>A c.(1720-1722)gGa>gAa p.G574E NCAM2_ENST00000284894.7_Missense_Mutation_p.G432E NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 574 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GCTGTAAATGGAAAGGGACAA 0.318000 6 11 0 0 0.003080 0 0 KCNB2 9312 broad.mit.edu 37 8 73848683 73848683 + Missense_Mutation SNP T T C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:73848683T>C ENST00000523207.1 + 3 1681 c.1093T>C c.(1093-1095)Ttc>Ctc p.F365L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 365 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TGCTACCAAGTTCACCAGTAT 0.423000 40 131 0 0 0.010771 0 0 STK11 6794 broad.mit.edu 37 19 1218459 1218459 + Nonsense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:1218459C>T ENST00000326873.7 + 2 1507 c.334C>T c.(334-336)Cag>Tag p.Q112* STK11_ENST00000585748.1_3'UTR NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 112 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.?(3) 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) AAATGTCATCCAGCTGGTGGA 0.562000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 54 69 0 0 0.014410 0 0 SCN11A 11280 broad.mit.edu 37 3 38888816 38888816 + Missense_Mutation SNP G G A rs150988853 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:38888816G>A ENST00000450244.1 - 26 4943 c.4745C>T c.(4744-4746)tCc>tTc p.S1582F SCN11A_ENST00000456224.3_Missense_Mutation_p.S1544F|SCN11A_ENST00000302328.3_Missense_Mutation_p.S1582F Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1582 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.S1582F(1) NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GACAAAGTAGGATGTGGCTAT 0.438000 10 46 0 0 0.008291 0 0 WNK2 65268 broad.mit.edu 37 9 96079878 96079878 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:96079878C>T ENST00000297954.4 + 29 6704 c.6704C>T c.(6703-6705)cCc>cTc p.P2235L WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P1847L|WNK2_ENST00000395477.2_Missense_Mutation_p.P2198L|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P1810L Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 2235 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 ACGGTCATTCCCGGAGCCGCC 0.657000 18 38 0 0 0.008871 0 0 NRXN3 9369 broad.mit.edu 37 14 80328179 80328179 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:80328179G>A ENST00000281127.7 + 6 2050 c.1171G>A c.(1171-1173)Gtg>Atg p.V391M NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Missense_Mutation_p.V596M|NRXN3_ENST00000428277.2_Missense_Mutation_p.V418M|NRXN3_ENST00000335750.5_Missense_Mutation_p.V1020M|NRXN3_ENST00000554719.1_Missense_Mutation_p.V1020M NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 596 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GTCCTATCAAGTGGACGAGAC 0.572000 11 24 0 0 0.013537 0 0 WIZ 58525 broad.mit.edu 37 19 15538239 15538239 + Missense_Mutation SNP A A T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:15538239A>T ENST00000389282.4 - 6 3419 c.3206T>A c.(3205-3207)aTg>aAg p.M1069K WIZ_ENST00000545156.1_Missense_Mutation_p.M383K|WIZ_ENST00000263381.6_Missense_Mutation_p.M212K|WIZ_ENST00000599910.1_Missense_Mutation_p.M386K|WIZ_ENST00000599686.2_Missense_Mutation_p.M253K O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1069 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 GGTCACGCCCATTTGCCGCAG 0.642000 17 35 0 0 0.007413 0 0 ADAM22 53616 broad.mit.edu 37 7 87765295 87765295 + Splice_Site SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:87765295G>A ENST00000398204.4 + 14 1492 c.1168_splice c.e14-1 p.G390_splice ADAM22_ENST00000398209.3_Splice_Site_p.G390_splice|ADAM22_ENST00000398201.4_Splice_Site_p.G390_splice|ADAM22_ENST00000265727.7_Splice_Site_p.G390_splice|ADAM22_ENST00000315984.7_Splice_Site_p.G390_splice NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 390 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TTTCTCTTAGGTGAATGTAAA 0.368000 16 59 0 0 0.033300 0 0 CCDC153 283152 broad.mit.edu 37 11 119061485 119061485 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:119061485G>A ENST00000503566.2 - 5 413 c.414C>T c.(412-414)gaC>gaT p.D138D CCDC153_ENST00000415318.1_Silent_p.D138D Q494R4 CC153_HUMAN coiled-coil domain containing 153 138 lung(3)|stomach(1) 4 CCAGGGCCTGGTCCCGCTCTC 0.617000 40 35 0 0 0.023175 0 0 COQ9 57017 broad.mit.edu 37 16 57485015 57485015 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:57485015C>T ENST00000262507.6 + 2 206 c.137C>T c.(136-138)tCt>tTt p.S46F COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567072.1_Missense_Mutation_p.S46F|COQ9_ENST00000567933.1_Missense_Mutation_p.S46F NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 46 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 GGGCTAAGGTCTTCAGATGAG 0.542000 21 28 0 0 0.008871 0 0 DNAJC12 56521 broad.mit.edu 37 10 69565494 69565494 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:69565494C>T ENST00000225171.2 - 4 501 c.349G>A c.(349-351)Gac>Aac p.D117N DNAJC12_ENST00000483798.2_Missense_Mutation_p.D147N NM_021800.2 NP_068572.1 Q9UKB3 DJC12_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 12 117 protein folding heat shock protein binding|unfolded protein binding breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 12 TGAGTCTTGTCAGATTCTTCC 0.368000 39 102 0 0 0.030466 0 0 SSPO 23145 broad.mit.edu 37 7 149526051 149526051 + RNA SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:149526051G>A ENST00000378016.2 + 0 15108 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGGAGCCAGGGAGCTGCTGTC 0.657000 13 15 0 0 0.024245 0 0 WNK2 65268 broad.mit.edu 37 9 96055255 96055255 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:96055255C>T ENST00000297954.4 + 23 5619 c.5619C>T c.(5617-5619)ttC>ttT p.F1873F WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Silent_p.F200F|WNK2_ENST00000349097.3_Silent_p.F1485F|WNK2_ENST00000395477.2_Silent_p.F1836F|WNK2_ENST00000427277.2_Silent_p.F1448F Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1873 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CTGGCGACTTCGTGAAGAAGG 0.706000 6 29 0 0 0.021553 0 0 FNDC7 163479 broad.mit.edu 37 1 109270661 109270661 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:109270661C>T ENST00000370017.3 + 7 1620 c.1343C>T c.(1342-1344)tCa>tTa p.S448L FNDC7_ENST00000271311.2_Missense_Mutation_p.S449L NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 449 Fibronectin type-III 5. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) AGCAATATGTCATGTACTCCC 0.483000 50 69 0 0 0.014410 0 0 COL13A1 1305 broad.mit.edu 37 10 71690275 71690275 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:71690275G>A ENST00000356340.3 + 28 2153 c.1617G>A c.(1615-1617)ggG>ggA p.G539G COL13A1_ENST00000398973.3_Silent_p.G539G|COL13A1_ENST00000398972.3_Silent_p.G539G|COL13A1_ENST00000398964.3_Silent_p.G510G|COL13A1_ENST00000398974.3_Silent_p.G527G|COL13A1_ENST00000398969.3_Silent_p.G482G|COL13A1_ENST00000398971.3_Silent_p.G539G|COL13A1_ENST00000398966.3_Silent_p.G517G|COL13A1_ENST00000520267.1_Silent_p.G482G|COL13A1_ENST00000357811.3_Silent_p.G517G|COL13A1_ENST00000522165.1_Silent_p.G520G|COL13A1_ENST00000354547.3_Silent_p.G517G|COL13A1_ENST00000520133.1_Silent_p.G488G|COL13A1_ENST00000398968.3_Silent_p.G520G|COL13A1_ENST00000398978.3_Silent_p.G539G|COL13A1_ENST00000517713.1_Silent_p.G517G Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 539 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GAGAGAAGGGGGAAAAAGGGG 0.632000 14 32 0 0 0.020292 0 0 DIEXF 27042 broad.mit.edu 37 1 210016907 210016907 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:210016907C>T ENST00000491415.2 + 11 1950 c.1893C>T c.(1891-1893)ttC>ttT p.F631F NM_014388.6 NP_055203.4 Q68CQ4 DIEXF_HUMAN digestive organ expansion factor homolog (zebrafish) 631 multicellular organismal development nucleus breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2) 53 GAAATTACTTCAAGAAGGAGG 0.453000 13 48 0 0 0.016723 0 0 ABCA8 10351 broad.mit.edu 37 17 66928525 66928525 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:66928525G>A ENST00000269080.2 - 6 838 c.701C>T c.(700-702)tCc>tTc p.S234F ABCA8_ENST00000430352.2_Missense_Mutation_p.S234F|ABCA8_ENST00000586539.1_Missense_Mutation_p.S234F NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 234 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AATGAATGAGGAAAATGAAAT 0.378000 14 42 0 0 0.016723 0 0 WBSCR17 64409 broad.mit.edu 37 7 70880955 70880955 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:70880955G>A ENST00000333538.5 + 4 1304 c.670G>A c.(670-672)Gaa>Aaa p.E224K WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 224 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TCAGAAGAGGGAAGGCCTGAT 0.562000 20 78 0 0 0.014323 0 0 PTPRF 5792 broad.mit.edu 37 1 44086843 44086843 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:44086843C>T ENST00000359947.4 + 33 5935 c.5595C>T c.(5593-5595)gtC>gtT p.V1865V PTPRF_ENST00000438120.1_Silent_p.V1856V|PTPRF_ENST00000372413.3_Silent_p.V1856V|PTPRF_ENST00000372414.3_Silent_p.V1865V|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Silent_p.V1224V NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1865 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) AGGGCGTGGTCGACATGTTTC 0.622000 17 31 0 0 0.033300 0 0 CUL9 23113 broad.mit.edu 37 6 43167862 43167862 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:43167862C>T ENST00000252050.4 + 14 3436 c.3352C>T c.(3352-3354)Ctc>Ttc p.L1118F CUL9_ENST00000354495.3_Missense_Mutation_p.L1008F|CUL9_ENST00000372647.2_Missense_Mutation_p.L1118F NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1118 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CTATAGCAACCTCACCTCCAG 0.567000 16 45 0 0 0.007413 0 0 FLAD1 80308 broad.mit.edu 37 1 154961378 154961378 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:154961378C>T ENST00000368431.3 + 3 1693 c.873C>T c.(871-873)ccC>ccT p.P291P FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000315144.10_Intron NM_001184892.1 NP_001171821.1 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 0 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGTGGCACCCCAGATCTCAGT 0.493000 12 16 0 0 0.010729 0 0 GRM3 2913 broad.mit.edu 37 7 86469000 86469000 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:86469000G>A ENST00000361669.2 + 4 3269 c.2170G>A c.(2170-2172)Gaa>Aaa p.E724K GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.E316K|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.E596K NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 724 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) AGAGAAGCGGGAAACAGTCAT 0.498000 33 35 0 0 0.017118 0 0 UBR5 51366 broad.mit.edu 37 8 103311078 103311078 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:103311078G>A ENST00000520539.1 - 25 3930 c.3324C>T c.(3322-3324)gcC>gcT p.A1108A UBR5_ENST00000521922.1_Silent_p.A1102A|UBR5_ENST00000220959.4_Silent_p.A1108A NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 1108 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCTCTTACTTGGCAGAAAGAA 0.333000 10 30 0 0 0.010729 0 0 DNAH5 1767 broad.mit.edu 37 5 13824396 13824396 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:13824396G>A ENST00000265104.4 - 39 6595 c.6491C>T c.(6490-6492)aCc>aTc p.T2164I NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2164 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) TGCTCCCAAGGTCCGAAGAAC 0.418000 Kartagener syndrome 4 31 0 0 0.009096 0 0 USH2A 7399 broad.mit.edu 37 1 216497652 216497652 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:216497652C>T ENST00000366943.2 - 7 1572 c.1186G>A c.(1186-1188)Gaa>Aaa p.E396K USH2A_ENST00000366942.3_Missense_Mutation_p.E396K|USH2A_ENST00000307340.3_Missense_Mutation_p.E396K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 396 Laminin N-terminal. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding 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) ATCCTTATTTCCGTTGGTTGT 0.313000 HNSCC(13;0.011) 6 17 0 0 0.029380 0 0 DENND2C 163259 broad.mit.edu 37 1 115137132 115137132 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:115137132C>T ENST00000393274.1 - 18 3018 c.2393G>A c.(2392-2394)cGa>cAa p.R798Q DENND2C_ENST00000393277.1_Missense_Mutation_p.R686Q|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.R741Q NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 798 NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GATTTCATTTCGTTCTTCCAA 0.353000 26 49 0 0 0.027356 0 0 RUSC2 9853 broad.mit.edu 37 9 35561090 35561090 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:35561090C>T ENST00000455600.1 + 11 4914 c.4345C>T c.(4345-4347)Ccg>Tcg p.P1449S NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1449 SH3. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CTCCAGTCCTCCGTGGTAAGC 0.647000 15 19 0 0 0.020292 0 0 SLC30A8 169026 broad.mit.edu 37 8 118170030 118170030 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:118170030C>T ENST00000427715.2 + 7 806 c.372C>T c.(370-372)atC>atT p.I124I SLC30A8_ENST00000519688.1_Silent_p.I124I|SLC30A8_ENST00000456015.2_Silent_p.I173I|SLC30A8_ENST00000521243.1_Silent_p.I124I NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 173 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ATTACCAGATCCAGGCGACTG 0.567000 163 567 0 0 0.014410 0 0 KATNB1 10300 broad.mit.edu 37 16 57785893 57785893 + Silent SNP T T G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:57785893T>G ENST00000379661.3 + 8 950 c.558T>G c.(556-558)ccT>ccG p.P186P NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 186 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) CTGAGTTCCCTGGTCACACGG 0.637000 10 28 0 0 0.008291 0 0 PSD 5662 broad.mit.edu 37 10 104174684 104174684 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:104174684C>T ENST00000020673.5 - 4 1586 c.1060G>A c.(1060-1062)Gac>Aac p.D354N PSD_ENST00000406432.1_Missense_Mutation_p.D354N NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 354 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GCCTCATCGTCGTCCTCATCC 0.667000 33 55 0 0 0.015359 0 0 NPIPB4 440345 broad.mit.edu 37 16 21858749 21858749 + Nonsense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:21858749C>T ENST00000415645.2 - 2 273 c.234G>A c.(232-234)tgG>tgA p.W78* NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000357370.5_Nonsense_Mutation_p.W78* nuclear pore complex interacting protein family, member B4 GGTAAACTATCCAGAGGGTAA 0.358000 15 49 0 0 0.024245 0 0 KTN1 3895 broad.mit.edu 37 14 56104545 56104545 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:56104545C>T ENST00000416613.1 + 11 1837 c.1765C>T c.(1765-1767)Cat>Tat p.H589Y KTN1_ENST00000438792.2_Missense_Mutation_p.H589Y|KTN1_ENST00000413890.2_Missense_Mutation_p.H589Y|KTN1_ENST00000395308.1_Missense_Mutation_p.H589Y|KTN1_ENST00000395314.3_Missense_Mutation_p.H589Y|KTN1_ENST00000395309.3_Missense_Mutation_p.H589Y|KTN1_ENST00000395311.1_Missense_Mutation_p.H589Y Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 589 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 TCAGCAGTTCCATTCCCAGAT 0.373000 T RET papillary thryoid 38 42 0 0 0.027894 0 0 NLRP1 22861 broad.mit.edu 37 17 5456793 5456793 + Missense_Mutation SNP T T C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:5456793T>C ENST00000345221.3 - 5 2995 c.2441A>G c.(2440-2442)gAc>gGc p.D814G NLRP1_ENST00000262467.5_Missense_Mutation_p.D814G|NLRP1_ENST00000269280.4_Missense_Mutation_p.D814G|NLRP1_ENST00000354411.3_Missense_Mutation_p.D814G|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.D814G|NLRP1_ENST00000577119.1_Missense_Mutation_p.D814G NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 814 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) TCCACTTAGGTCCAGCTCCTT 0.567000 21 33 0 0 0.008871 0 0 PARS2 25973 broad.mit.edu 37 1 55223653 55223653 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:55223653G>A ENST00000371279.3 - 2 1264 c.1182C>T c.(1180-1182)taC>taT p.Y394Y NM_152268.3 NP_689481.2 Q7L3T8 SYPM_HUMAN prolyl-tRNA synthetase 2, mitochondrial (putative) 394 prolyl-tRNA aminoacylation mitochondrial matrix ATP binding|proline-tRNA ligase activity breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1) 15 L-Proline(DB00172) TGATGTGGTCGTACAGCTGCC 0.602000 4 111 0 0 0.009096 0 0 ACSL5 51703 broad.mit.edu 37 10 114136158 114136158 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:114136158G>A ENST00000356116.1 + 1 203 c.91G>A c.(91-93)Gga>Aga p.G31R ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000393081.1_Intron|ACSL5_ENST00000354273.4_5'UTR NM_016234.3 NP_057318.2 Q9ULC5 ACSL5_HUMAN acyl-CoA synthetase long-chain family member 5 0 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1) 21 Colorectal(252;0.117)|Breast(234;0.222) Epithelial(162;0.0343)|all cancers(201;0.137) CTCAGAGCCGGGAAGCCCCCA 0.602000 34 82 0 0 0.019004 0 0 LLGL2 3993 broad.mit.edu 37 17 73569281 73569281 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:73569281C>T ENST00000392550.3 + 20 2764 c.2647C>T c.(2647-2649)Ccc>Tcc p.P883S LLGL2_ENST00000577200.1_Missense_Mutation_p.P883S|LLGL2_ENST00000167462.5_Missense_Mutation_p.P883S NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 883 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CCTGCTCAAGCCCCAGGTGCG 0.647000 19 78 0 0 0.008871 0 0 KCNK10 54207 broad.mit.edu 37 14 88729741 88729741 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:88729741C>T ENST00000340700.5 - 2 643 c.192G>A c.(190-192)caG>caA p.Q64Q KCNK10_ENST00000312350.5_Silent_p.Q69Q|KCNK10_ENST00000319231.5_Silent_p.Q69Q NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 64 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 TCATGACGGTCTGCAAGCCCC 0.607000 39 48 0 0 0.023175 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6081910 6081910 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:6081910C>T ENST00000409021.3 - 7 1680 c.1231G>A c.(1231-1233)Gac>Aac p.D411N JAKMIP1_ENST00000409371.3_Missense_Mutation_p.D246N|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.D411N|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.D246N|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.D411N NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 411 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGTGAGAGGTCGTCAATGACG 0.617000 9 9 0 0 0.006214 0 0 WNT5B 81029 broad.mit.edu 37 12 1748983 1748983 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:1748983G>A ENST00000397196.2 + 4 694 c.462G>A c.(460-462)cgG>cgA p.R154R WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000537031.1_Silent_p.R154R|WNT5B_ENST00000310594.3_Silent_p.R154R NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 154 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) ACCTGCCCCGGGACTGGCTGT 0.701000 19 40 0 0 0.008871 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996243 143996243 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:143996243G>A ENST00000323110.2 - 4 679 c.677C>T c.(676-678)gCc>gTc p.A226V NM_000498.3 NP_000489.3 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, polypeptide 2 226 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GACCTCCAGGGCATGGAGGAA 0.597000 Familial Hyperaldosteronism type I 19 77 0 0 0.012319 0 0 TENM2 57451 broad.mit.edu 37 5 167626002 167626002 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:167626002C>T ENST00000519204.1 + 15 2800 c.2682C>T c.(2680-2682)tcC>tcT p.S894S TENM2_ENST00000403607.2_Silent_p.S839S|TENM2_ENST00000520394.1_Silent_p.S783S|TENM2_ENST00000545108.1_Silent_p.S1015S|TENM2_ENST00000518659.1_Silent_p.S1015S teneurin transmembrane protein 2 AGGAGAACTCCATCCCCAGCT 0.582000 9 15 0 0 0.006214 0 0 SHKBP1 92799 broad.mit.edu 37 19 41096183 41096183 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:41096183C>T ENST00000291842.5 + 16 1672 c.1623C>T c.(1621-1623)ccC>ccT p.P541P SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Silent_p.P516P NM_138392.3 NP_612401.2 Q8TBC3 SHKB1_HUMAN SH3KBP1 binding protein 1 541 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1) 29 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACGGCTCACCCACGACAGCCT 0.701000 4 15 0 0 0.014758 0 0 PHAX 51808 broad.mit.edu 37 5 125939782 125939782 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:125939782G>A ENST00000297540.4 + 2 1312 c.617G>A c.(616-618)aGg>aAg p.R206K NM_032177.3 NP_115553.2 Q9H814 PHAX_HUMAN phosphorylated adaptor for RNA export 206 Necessary for interaction with CBP80 (By similarity). ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly Cajal body|cytosol RNA binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1) 8 GTCAAAGACAGGCTAGGGAAC 0.418000 9 10 0 0 0.008291 0 0 ZNF99 7652 broad.mit.edu 37 19 22941691 22941691 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:22941691G>A ENST00000397104.3 - 5 746 c.747C>T c.(745-747)ccC>ccT p.P249P ZNF99_ENST00000596209.1_Silent_p.P340P zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CACATTTGTAGGGTTTCTTTC 0.368000 12 40 0 0 0.010729 0 0 MYO1G 64005 broad.mit.edu 37 7 45007302 45007302 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:45007302C>T ENST00000258787.7 - 14 1820 c.1684G>A c.(1684-1686)Ggg>Agg p.G562R NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 562 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 TCCTGCTGCCCGTCCGGCCAC 0.642000 25 93 0 0 0.024334 0 0 SLC12A6 9990 broad.mit.edu 37 15 34527391 34527391 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:34527391C>T ENST00000354181.3 - 25 3844 c.3352G>A c.(3352-3354)Gat>Aat p.D1118N SLC12A6_ENST00000458406.2_Missense_Mutation_p.D1059N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D1059N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D1067N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D1109N|SLC12A6_ENST00000558667.1_Missense_Mutation_p.D1118N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D930N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D1103N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D930N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D1118N Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 1118 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CAGTTTTCATCACCCTCAGGG 0.428000 31 85 0 0 0.012213 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741427 140741427 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:140741427C>T ENST00000522605.1 + 1 1725 c.1725C>T c.(1723-1725)ttC>ttT p.F575F PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 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) CCGCCCTCTTCGATATGGTGC 0.657000 10 34 0 0 0.033300 0 0 VPS8 23355 broad.mit.edu 37 3 184542424 184542424 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:184542424G>A ENST00000287546.4 + 2 175 c.4G>A c.(4-6)Gaa>Aaa p.E2K VPS8_ENST00000446204.2_Missense_Mutation_p.E2K|VPS8_ENST00000436792.2_Missense_Mutation_p.E2K|VPS8_ENST00000437079.3_Missense_Mutation_p.E2K|VPS8_ENST00000424463.2_Missense_Mutation_p.E2K NM_015303.3 NP_056118.2 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog (S. cerevisiae) 2 zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) AGTAAATATGGAAAATGAACC 0.373000 8 33 0 0 0.004482 0 0 PRKDC 5591 broad.mit.edu 37 8 48869985 48869985 + Missense_Mutation SNP T T A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:48869985T>A ENST00000314191.2 - 2 217 c.161A>T c.(160-162)cAg>cTg p.Q54L PRKDC_ENST00000338368.3_Missense_Mutation_p.Q54L|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 54 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TAAAGATGTCTGTAATGCTGT 0.333000 Non-homologous end-joining 7 12 0 0 0.029380 0 0 ATP13A1 57130 broad.mit.edu 37 19 19767573 19767573 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:19767573G>A ENST00000357324.6 - 7 1005 c.979C>T c.(979-981)Cgc>Tgc p.R327C ATP13A1_ENST00000291503.5_Missense_Mutation_p.R209C NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 327 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TGTGGGGAGCGGCCTGCAGGG 0.672000 8 27 0 0 0.006214 0 0 PIAS2 9063 broad.mit.edu 37 18 44424036 44424036 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr18:44424036C>T ENST00000585916.1 - 8 1021 c.1022G>A c.(1021-1023)cGg>cAg p.R341Q PIAS2_ENST00000324794.7_Missense_Mutation_p.R341Q|PIAS2_ENST00000545673.1_Missense_Mutation_p.R51Q NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 341 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding p.R341L(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 CAAGGATACCCGAAGGCTAGT 0.303000 22 84 0 0 0.016522 0 0 MUC16 94025 broad.mit.edu 37 19 9061597 9061597 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:9061597G>A ENST00000397910.4 - 3 26052 c.25849C>T c.(25849-25851)Cca>Tca p.P8617S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8619 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTCAAATTTGGAGGTGAACTG 0.483000 23 67 0 0 0.018920 0 0 FBN3 84467 broad.mit.edu 37 19 8176006 8176006 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:8176006G>A ENST00000600128.1 - 33 4560 c.4146C>T c.(4144-4146)ccC>ccT p.P1382P FBN3_ENST00000270509.2_Silent_p.P1382P|FBN3_ENST00000601739.1_Silent_p.P1382P Q75N90 FBN3_HUMAN fibrillin 3 1382 EGF-like 21; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GGTACCCGCCGGGCGCATTGA 0.657000 18 38 0 0 0.033300 0 0 EXPH5 23086 broad.mit.edu 37 11 108409813 108409813 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:108409813G>A ENST00000265843.4 - 3 491 c.381C>T c.(379-381)tcC>tcT p.S127S EXPH5_ENST00000428840.1_Silent_p.S51S|EXPH5_ENST00000525344.1_Silent_p.S120S NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 127 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ATGAGAACAGGGAAGCAAATG 0.408000 45 50 0 0 0.014410 0 0 NHSL2 340527 broad.mit.edu 37 X 71360111 71360111 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:71360111C>T ENST00000373677.1 + 2 2877 c.1615C>T c.(1615-1617)Ccc>Tcc p.P539S NHSL2_ENST00000535692.1_Missense_Mutation_p.P539S|NHSL2_ENST00000540800.1_Missense_Mutation_p.P905S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P674S F5H593 F5H593_HUMAN NHS-like 2 905 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) CTTGGCTATGCCCCCCAGGAG 0.577000 3 35 0 0 0.004672 0 0 SOX10 6663 broad.mit.edu 37 22 38370097 38370097 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:38370097G>A ENST00000396884.2 - 4 1088 c.806C>T c.(805-807)cCt>cTt p.P269L SOX10_ENST00000360880.2_Missense_Mutation_p.P269L|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 269 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) GTCGATGTGAGGCTTCCCGCC 0.622000 84 89 0 0 0.014410 0 0 MUC4 4585 broad.mit.edu 37 3 195516830 195516830 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:195516830C>T ENST00000463781.3 - 2 2080 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.E541K NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 546 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) TCTCCTGGTTCCCCTATTGCT 0.547000 66 146 0 0 0.014410 0 0 KPNA2 3838 broad.mit.edu 37 17 66039321 66039321 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:66039321C>T ENST00000537025.2 + 7 1392 c.772C>T c.(772-774)Cgg>Tgg p.R258W KPNA2_ENST00000330459.3_Missense_Mutation_p.R258W P52292 IMA2_HUMAN karyopherin alpha 2 (RAG cohort 1, importin alpha 1) 258 DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2) 22 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) TACCTTAGTTCGGCTCCTGCA 0.453000 103 171 0 0 0.014410 0 0 OR1L6 392390 broad.mit.edu 37 9 125512178 125512178 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:125512178C>T ENST00000373684.1 + 1 160 c.160C>T c.(160-162)Ctc>Ttc p.L54F OR1L6_ENST00000304720.2_Missense_Mutation_p.L18F Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 CCTCCTGGGCCTCTCTTCCAA 0.532000 59 137 0 0 0.014410 0 0 LUZP2 338645 broad.mit.edu 37 11 24750779 24750779 + Missense_Mutation SNP C C T rs150458536 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:24750779C>T ENST00000336930.6 + 2 193 c.127C>T c.(127-129)Cgt>Tgt p.R43C LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR Q86TE4 LUZP2_HUMAN leucine zipper protein 2 43 extracellular region p.R43C(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 CACCATTCTTCGTCAGCTGAC 0.433000 15 22 0 0 0.024245 0 0 ESRP2 80004 broad.mit.edu 37 16 68269602 68269602 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:68269602C>T ENST00000473183.2 - 2 800 c.262G>A c.(262-264)Gag>Aag p.E88K ESRP2_ENST00000565858.1_Missense_Mutation_p.E88K Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 88 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 CCGCTCGCCTCGCGGCACTGC 0.726000 5 19 0 0 0.014758 0 0 TET3 200424 broad.mit.edu 37 2 74327599 74327599 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:74327599C>T ENST00000409262.3 + 9 3279 c.3279C>T c.(3277-3279)tcC>tcT p.S1093S NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1093 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACTTCAGCTCCTTCAAGTACA 0.597000 7 4 0 0 0.003080 0 0 CRTAM 56253 broad.mit.edu 37 11 122738147 122738147 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:122738147G>A ENST00000227348.4 + 8 895 c.848G>A c.(847-849)aGa>aAa p.R283K CRTAM_ENST00000533709.1_Missense_Mutation_p.R84K NM_019604.2 NP_062550.2 O95727 CRTAM_HUMAN cytotoxic and regulatory T cell molecule 283 cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1) 19 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) GGACTGGCAAGAAAGAAAAGT 0.388000 11 24 0 0 0.008291 0 0 FGFR2 2263 broad.mit.edu 37 10 123274775 123274775 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:123274775G>A ENST00000358487.5 - 9 1415 c.1143C>T c.(1141-1143)taC>taT p.Y381Y FGFR2_ENST00000369061.4_Silent_p.Y269Y|FGFR2_ENST00000357555.5_Silent_p.Y292Y|FGFR2_ENST00000356226.4_Silent_p.Y266Y|FGFR2_ENST00000369059.1_Silent_p.Y267Y|FGFR2_ENST00000457416.2_Silent_p.Y382Y|FGFR2_ENST00000351936.6_Silent_p.Y381Y|FGFR2_ENST00000346997.2_Silent_p.Y381Y|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000369056.1_Silent_p.Y382Y|FGFR2_ENST00000478859.1_Silent_p.Y153Y|FGFR2_ENST00000360144.3_Silent_p.Y293Y NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 381 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CCCCTATGCAGTAAATGGCTA 0.512000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 33 73 0 0 0.023175 0 0 NLRP13 126204 broad.mit.edu 37 19 56424075 56424075 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:56424075C>T ENST00000588751.1 - 5 1132 c.1108G>A c.(1108-1110)Gat>Aat p.D370N NLRP13_ENST00000342929.3_Missense_Mutation_p.D370N Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 370 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GCCTTAAGATCTCTCACAAAC 0.453000 22 75 0 0 0.018920 0 0 COL21A1 81578 broad.mit.edu 37 6 55933851 55933851 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:55933851C>T ENST00000244728.5 - 22 2481 c.2084G>A c.(2083-2085)gGa>gAa p.G695E COL21A1_ENST00000535941.1_Missense_Mutation_p.G695E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G692E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G95E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 695 Collagen-like 4. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TACCTTTTTTCCTTGAATCCC 0.403000 4 20 0 0 0.014758 0 0 DCX 1641 broad.mit.edu 37 X 110544956 110544956 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:110544956G>A ENST00000338081.3 - 7 1456 c.1285C>T c.(1285-1287)Ctg>Ttg p.L429L DCX_ENST00000371993.2_Silent_p.L348L|DCX_ENST00000356220.3_Silent_p.L353L|DCX_ENST00000356915.2_Silent_p.L353L|DCX_ENST00000488120.1_Silent_p.L348L NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 429 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TCCAAGGACAGAGGCAGGTAC 0.413000 29 21 0 0 0.037714 0 0 RYR1 6261 broad.mit.edu 37 19 38976703 38976703 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:38976703C>T ENST00000355481.4 + 34 5539 c.5408C>T c.(5407-5409)cCg>cTg p.P1803L RYR1_ENST00000360985.3_Missense_Mutation_p.P1803L|RYR1_ENST00000359596.3_Missense_Mutation_p.P1803L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1803 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCTGCCATCCCGCTGGAGGCC 0.731000 16 40 0 0 0.033300 0 0 OVCH2 341277 broad.mit.edu 37 11 7722018 7722018 + RNA SNP A A T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:7722018A>T ENST00000454689.1 - 0 725 OVCH2_ENST00000534193.1_RNA NM_198185.3 NP_937828.3 ovochymase 2 (gene/pseudogene) cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2) 15 Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197) ACATGAGTGAACCTCCTGAAT 0.517000 3 6 0 0 0.004672 0 0 AKAP1 8165 broad.mit.edu 37 17 55183373 55183373 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:55183373C>T ENST00000337714.3 + 2 781 c.548C>T c.(547-549)cCc>cTc p.P183L AKAP1_ENST00000571629.1_Missense_Mutation_p.P183L|AKAP1_ENST00000572557.1_Missense_Mutation_p.P183L|AKAP1_ENST00000314126.3_Missense_Mutation_p.P183L|AKAP1_ENST00000539273.1_Missense_Mutation_p.P183L NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 183 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) CCAGGCTACCCCGTAGTCCCC 0.577000 27 50 0 0 0.021523 0 0 BAGE2 85319 broad.mit.edu 37 21 11039421 11039421 + RNA SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:11039421C>T ENST00000470054.1 - 0 782 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTTCCAATTCGGTATTCACT 0.279000 8 136 0 0 0.004482 0 0 CLCN1 1180 broad.mit.edu 37 7 143036388 143036388 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:143036388G>A ENST00000343257.2 + 13 1531 c.1444G>A c.(1444-1446)Gga>Aga p.G482R NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 482 G -> R (in MCR). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CATACCCTGCGGAGGCTTCAT 0.502000 53 201 0 0 0.014410 0 0 MGAM 8972 broad.mit.edu 37 7 141730492 141730492 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:141730492G>A ENST00000475668.2 + 12 1459 c.1405G>A c.(1405-1407)Gac>Aac p.D469N MGAM_ENST00000549489.2_Missense_Mutation_p.D469N O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 469 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGGCCCATATGACAGGGGTTC 0.468000 26 94 0 0 0.027356 0 0 IDO2 169355 broad.mit.edu 37 8 39872789 39872789 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:39872789G>A ENST00000502986.2 + 11 1173 c.931G>A c.(931-933)Gat>Aat p.D311N IDO2_ENST00000389060.4_Missense_Mutation_p.D298N|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 298 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 CAGAATGAGGGATTACATGCC 0.458000 18 15 0 0 0.008871 0 0 MPP7 143098 broad.mit.edu 37 10 28347518 28347518 + Missense_Mutation SNP C C T rs145704516 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:28347518C>T ENST00000337532.5 - 16 1589 c.1313G>A c.(1312-1314)gGa>gAa p.G438E MPP7_ENST00000540098.1_Missense_Mutation_p.G438E|MPP7_ENST00000375732.1_Missense_Mutation_p.G438E|MPP7_ENST00000445954.2_Missense_Mutation_p.G313E|MPP7_ENST00000375719.3_Missense_Mutation_p.G438E NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 438 Guanylate kinase-like. 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 autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TTTATATTCTCCATATTCAAT 0.313000 33 86 0 0 0.012213 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47585753 47585753 + Missense_Mutation SNP G G C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:47585753G>C ENST00000371917.4 + 9 1129 c.1129G>C c.(1129-1131)Gtg>Ctg p.V377L NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 377 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGCCTTCCTTGTGTTCCGCTC 0.532000 32 56 0 0 0.009535 0 0 NMNAT3 349565 broad.mit.edu 37 3 139279987 139279987 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:139279987G>A ENST00000406824.1 - 7 1488 c.294C>T c.(292-294)gcC>gcT p.A98A RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000413939.2_Silent_p.A119A|NMNAT3_ENST00000511444.1_3'UTR|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000406164.1_Silent_p.A171A|NMNAT3_ENST00000339837.5_Silent_p.A171A|NMNAT3_ENST00000296202.7_Silent_p.A208A Q96T66 NMNA3_HUMAN nicotinamide nucleotide adenylyltransferase 3 208 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 CTTGGCCCAAGGCTCGCCTGA 0.542000 35 70 0 0 0.013726 0 0 OR6C70 390327 broad.mit.edu 37 12 55863781 55863781 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:55863781G>A ENST00000327335.4 - 1 141 c.142C>T c.(142-144)Ctg>Ttg p.L48L RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 48 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 GAATCCAGCAGAATGAGGGCA 0.373000 15 37 0 0 0.020292 0 0 TMEM180 79847 broad.mit.edu 37 10 104231132 104231132 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:104231132C>T ENST00000238936.4 + 6 1044 c.807C>T c.(805-807)ttC>ttT p.F269F TMEM180_ENST00000369931.3_Silent_p.F118F|TMEM180_ENST00000366277.2_5'UTR NM_024789.3 NP_079065.2 Q14CX5 TM180_HUMAN transmembrane protein 180 269 integral to membrane breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1) 13 Colorectal(252;0.122) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TCCTGTGGTTCGTGAGCATGG 0.617000 27 64 0 0 0.034045 0 0 EPHA6 285220 broad.mit.edu 37 3 97251218 97251218 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:97251218C>T ENST00000389672.5 + 11 2255 c.2217C>T c.(2215-2217)gtC>gtT p.V739V EPHA6_ENST00000502694.1_Silent_p.V131V|EPHA6_ENST00000442602.2_Silent_p.V105V|EPHA6_ENST00000514100.1_Silent_p.V131V NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 644 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity 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 TTGGAGAAGTCTGTAGTGGGC 0.383000 27 72 0 0 0.030593 0 0 ROS1 6098 broad.mit.edu 37 6 117686903 117686903 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:117686903C>T ENST00000368508.3 - 19 3012 c.2812_splice c.e19-1 p.G938_splice ROS1_ENST00000368507.3_Splice_Site_p.G933_splice|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 938 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGGAAAAGTTCCCTACAGGAT 0.318000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 5 10 0 0 0.014758 0 0 FAR2 55711 broad.mit.edu 37 12 29460611 29460611 + Missense_Mutation SNP T T G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:29460611T>G ENST00000182377.4 + 5 834 c.566T>G c.(565-567)aTt>aGt p.I189S RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.I189S|FAR2_ENST00000547116.1_Missense_Mutation_p.I92S NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 189 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 GATGCTATTATTGACGAGATT 0.403000 27 73 0 0 0.010818 0 0 OR52I2 143502 broad.mit.edu 37 11 4608745 4608745 + Missense_Mutation SNP C C T rs137965376 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:4608745C>T ENST00000312614.4 + 1 725 c.703C>T c.(703-705)Ctt>Ttt p.L235F NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTTCCTCTCTTATGGTGGG 0.488000 73 92 0 0 0.014410 0 0 ZNF670 93474 broad.mit.edu 37 1 247201207 247201207 + Silent SNP A A G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:247201207A>G ENST00000366503.2 - 4 872 c.714T>C c.(712-714)agT>agC p.S238S NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GGCGAAGAGAACTGGAAAAAG 0.388000 13 41 0 0 0.020292 0 0 FLAD1 80308 broad.mit.edu 37 1 154961377 154961377 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:154961377C>T ENST00000368431.3 + 3 1692 c.872C>T c.(871-873)cCc>cTc p.P291L FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368433.1_Intron|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000315144.10_Intron NM_001184892.1 NP_001171821.1 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 0 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGGTGGCACCCCAGATCTCAG 0.493000 13 16 0 0 0.013537 0 0 LRRC30 339291 broad.mit.edu 37 18 7231816 7231816 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr18:7231816C>T ENST00000383467.2 + 1 694 c.680C>T c.(679-681)tCg>tTg p.S227L NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 227 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TTCCCGAGGTCGCTTTGCCTG 0.577000 24 51 0 0 0.018920 0 0 ULBP1 80329 broad.mit.edu 37 6 150291158 150291158 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:150291158C>T ENST00000229708.2 + 4 675 c.632C>T c.(631-633)cCc>cTc p.P211L ULBP1_ENST00000367345.1_Missense_Mutation_p.P211L NM_025218.2 NP_079494.1 Q9BZM6 N2DL1_HUMAN UL16 binding protein 1 211 antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response anchored to membrane|endoplasmic reticulum|MHC class I protein complex MHC class I receptor activity large_intestine(3)|lung(5)|pancreas(1)|skin(1) 10 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.14e-11) TCAGAACCACCCTCTCTGGCC 0.562000 3 6 0 0 0.004672 0 0 HRH2 3274 broad.mit.edu 37 5 175110686 175110686 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:175110686C>T ENST00000231683.2 + 1 2223 c.450C>T c.(448-450)tcC>tcT p.S150S HRH2_ENST00000377291.2_Silent_p.S150S NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 150 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) TTACCCTGTCCTTTCTGTCTA 0.547000 14 22 0 0 0.020292 0 0 NHS 4810 broad.mit.edu 37 X 17746034 17746034 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:17746034C>T ENST00000380060.3 + 6 4083 c.3745C>T c.(3745-3747)Ccc>Tcc p.P1249S NHS_ENST00000398097.3_Missense_Mutation_p.P1093S NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1249 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CTGTGCTTTTCCCACAGAAGG 0.448000 49 24 0 0 0.014410 0 0 OR52A5 390054 broad.mit.edu 37 11 5153503 5153503 + Missense_Mutation SNP G G A rs143161168 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:5153503G>A ENST00000307388.1 - 1 369 c.370C>T c.(370-372)Cgc>Tgc p.R124C NM_001005160.2 NP_001005160.1 Q9H2C5 O52A5_HUMAN olfactory receptor, family 52, subfamily A, member 5 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3) 35 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GCCACATAGCGATCCAGGGCC 0.468000 10 22 0 0 0.008291 0 0 KLHL4 56062 broad.mit.edu 37 X 86868978 86868978 + Missense_Mutation SNP A A G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:86868978A>G ENST00000373119.4 + 2 666 c.521A>G c.(520-522)aAc>aGc p.N174S KLHL4_ENST00000373114.4_Missense_Mutation_p.N174S NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 174 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 AAAATGGAGAACTACTTGAAA 0.403000 22 7 0 0 0.012319 0 0 CD300LF 146722 broad.mit.edu 37 17 72700740 72700740 + Missense_Mutation SNP T T C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:72700740T>C ENST00000469092.1 - 3 544 c.268A>G c.(268-270)Aaa>Gaa p.K90E CD300LF_ENST00000343125.4_Missense_Mutation_p.K90E|CD300LF_ENST00000581500.1_Missense_Mutation_p.K90E|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.K90E|CD300LF_ENST00000301573.9_Missense_Mutation_p.K87E|CD300LF_ENST00000583937.1_Missense_Mutation_p.K87E|CD300LF_ENST00000326165.6_Missense_Mutation_p.K87E|CD300LF_ENST00000361254.4_Missense_Mutation_p.K90E Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 87 Ig-like V-type. integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GTGCGGTTTTTCTGATTGTCC 0.493000 82 179 0 0 0.014410 0 0 SIRT6 51548 broad.mit.edu 37 19 4174812 4174812 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:4174812G>A ENST00000337491.2 - 8 934 c.870C>T c.(868-870)ccC>ccT p.P290P SIRT6_ENST00000305232.6_Silent_p.P263P|SIRT6_ENST00000594279.1_3'UTR|SIRT6_ENST00000601488.1_3'UTR|SIRT6_ENST00000381935.3_Silent_p.P218P NM_016539.2 NP_057623.2 Q8N6T7 SIRT6_HUMAN sirtuin 6 290 Pro-rich. chromatin silencing|protein ADP-ribosylation nuclear telomeric heterochromatin|nucleoplasm NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|protein binding|zinc ion binding central_nervous_system(1)|kidney(1)|lung(4)|ovary(1)|skin(1) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.023)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGCGGGCGGGGCAGGGGTG 0.706000 4 3 0 0 0.014758 0 0 PTX4 390667 broad.mit.edu 37 16 1537732 1537732 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:1537732G>A ENST00000447419.2 - 2 406 c.381C>T c.(379-381)ctC>ctT p.L127L PTX4_ENST00000293922.1_Silent_p.L122L|PTX4_ENST00000440447.2_Intron Q96A99 PTX4_HUMAN pentraxin 4, long 127 extracellular region metal ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 CGCCCAGGGTGAGGTCCAAGG 0.706000 21 60 0 0 0.010504 0 0 ZNF749 388567 broad.mit.edu 37 19 57956710 57956710 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:57956710G>A ENST00000334181.4 + 3 2444 c.2194G>A c.(2194-2196)Gac>Aac p.D732N AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 732 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 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;0.0264)|Lung(386;0.177) ATGTGGGAAAGACTTCAACAA 0.393000 31 74 0 0 0.013726 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996386 140996386 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:140996386C>T ENST00000285879.4 + 4 3482 c.3196C>T c.(3196-3198)Cgt>Tgt p.R1066C MAGEC1_ENST00000406005.2_Missense_Mutation_p.R133C NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1066 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTCTCCTCCTCGTTACGAATT 0.493000 HNSCC(15;0.026) 64 51 0 0 0.014410 0 0 WNK1 65125 broad.mit.edu 37 12 968444 968444 + Silent SNP C C T rs61736906 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:968444C>T ENST00000537687.1 + 6 2077 c.1434C>T c.(1432-1434)ttC>ttT p.F478F WNK1_ENST00000535572.1_Silent_p.F478F|WNK1_ENST00000530271.2_Silent_p.F478F|WNK1_ENST00000315939.6_Silent_p.F478F|WNK1_ENST00000340908.4_Silent_p.F71F|WNK1_ENST00000540360.1_3'UTR NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 478 Protein kinase. intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) ACCATGCCTTCTTCCAAGAGG 0.323000 12 54 0 0 0.013537 0 0 DHTKD1 55526 broad.mit.edu 37 10 12162807 12162807 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:12162807C>T ENST00000263035.4 + 17 2742 c.2680C>T c.(2680-2682)Cct>Tct p.P894S NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 894 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GGGCCGGCCCCCTTTGCCAGT 0.473000 105 378 0 0 0.014410 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481351 142481351 + RNA SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:142481351C>T ENST00000603901.1 + 0 425 NR_001296.3 TGCCTTATCTCCGGCTGGGGC 0.562000 15 8 0 0 0.020292 0 0 NCAM2 4685 broad.mit.edu 37 21 22804491 22804491 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:22804491C>T ENST00000400546.1 + 12 1793 c.1544C>T c.(1543-1545)tCc>tTc p.S515F NCAM2_ENST00000284894.7_Missense_Mutation_p.S373F NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 515 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GCCAAGGTTTCCTTCAACAAA 0.453000 11 33 0 0 0.010729 0 0 MGAT3 4248 broad.mit.edu 37 22 39884917 39884917 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:39884917C>T ENST00000341184.6 + 2 1780 c.1565C>T c.(1564-1566)cCg>cTg p.P522L NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 522 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) GAGGGAAGGCCGCCCGCCCGG 0.677000 6 6 0 0 0.021553 0 0 PADI2 11240 broad.mit.edu 37 1 17420166 17420166 + Nonsense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:17420166C>T ENST00000375486.4 - 5 488 c.425G>A c.(424-426)tGg>tAg p.W142* PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Nonsense_Mutation_p.W142* NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 142 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) CTCGGGGCCCCAGGTCCAGGA 0.592000 23 55 0 0 0.012319 0 0 KCNG3 170850 broad.mit.edu 37 2 42720488 42720488 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:42720488C>T ENST00000306078.1 - 1 749 c.154G>A c.(154-156)Gac>Aac p.D52N KCNG3_ENST00000394973.4_Missense_Mutation_p.D52N NM_133329.5|NM_172344.2 NP_579875.1|NP_758847.1 Q8TAE7 KCNG3_HUMAN potassium voltage-gated channel, subfamily G, member 3 52 endoplasmic reticulum|voltage-gated potassium channel complex protein binding central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2) 6 TCGTAGTCGTCGCACACCTCG 0.682000 6 11 0 0 0.029380 0 0 DCHS1 8642 broad.mit.edu 37 11 6654053 6654053 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:6654053G>A ENST00000299441.3 - 6 3101 c.2690C>T c.(2689-2691)cCt>cTt p.P897L RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 897 Cadherin 9. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGTGTCTTCAGGTGCAGGAAA 0.582000 7 18 0 0 0.029380 0 0 CYC1 1537 broad.mit.edu 37 8 145151058 145151058 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:145151058G>A ENST00000318911.4 + 3 431 c.358G>A c.(358-360)Gtg>Atg p.V120M NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 120 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 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;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ATATAAGCAGGTGTGCGCCTC 0.597000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 154 174 0 0 0.014410 0 0 OR10H4 126541 broad.mit.edu 37 19 16060411 16060411 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:16060411C>T ENST00000322107.1 + 1 594 c.594C>T c.(592-594)atC>atT p.I198I NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 198 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 17 CATCTGTCATCATGGGTGTGA 0.463000 85 151 0 0 0.014410 0 0 STAU2 27067 broad.mit.edu 37 8 74464404 74464404 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:74464404G>A ENST00000355780.5 - 12 1495 c.1277C>T c.(1276-1278)tCg>tTg p.S426L STAU2_ENST00000522695.1_Missense_Mutation_p.S426L|STAU2_ENST00000521210.1_Missense_Mutation_p.S354L|STAU2_ENST00000519961.1_Missense_Mutation_p.S458L|STAU2_ENST00000524300.1_Missense_Mutation_p.S458L|STAU2_ENST00000523558.1_Missense_Mutation_p.S286L|STAU2_ENST00000517542.1_Missense_Mutation_p.S420L|STAU2_ENST00000521727.1_Missense_Mutation_p.S438L|STAU2_ENST00000521451.1_Missense_Mutation_p.S238L|STAU2_ENST00000522509.1_Missense_Mutation_p.S426L NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 458 Required for dendritic transport (By similarity). transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) TGAACTATTCGATGTGGGAGA 0.443000 42 124 0 0 0.010771 0 0 VPS29 51699 broad.mit.edu 37 12 110933831 110933831 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:110933831C>T ENST00000549578.1 - 2 246 c.181G>A c.(181-183)Gga>Aga p.G61R VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.G65R|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.G93R NM_016226.3 NP_057310.1 Q9UBQ0 VPS29_HUMAN vacuolar protein sorting 29 homolog (S. cerevisiae) 61 protein transport endosome membrane metal ion binding|phosphoserine phosphatase activity kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 TCGAAGTCTCCTCTCACAATA 0.403000 15 39 0 0 0.028581 0 0 ZBTB38 253461 broad.mit.edu 37 3 141164718 141164718 + Missense_Mutation SNP A A T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:141164718A>T ENST00000514251.1 + 4 3767 c.3488A>T c.(3487-3489)cAc>cTc p.H1163L ZBTB38_ENST00000441582.2_Missense_Mutation_p.H1163L|ZBTB38_ENST00000321464.5_Missense_Mutation_p.H1164L Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 1163 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 GACGTGTGCCACGAAAACTCA 0.418000 54 125 0 0 0.014410 0 0 KCNK1 3775 broad.mit.edu 37 1 233807105 233807105 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:233807105C>T ENST00000366621.3 + 3 1008 c.840C>T c.(838-840)ttC>ttT p.F280F KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Silent_p.F164F NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 280 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) GAAAAATGTTCTATGTGAAGA 0.458000 15 41 0 0 0.020292 0 0 PXN 5829 broad.mit.edu 37 12 120652731 120652731 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:120652731C>T ENST00000397506.3 - 6 1664 c.611G>A c.(610-612)gGa>gAa p.G204E PXN_ENST00000228307.7_Missense_Mutation_p.G392E|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Missense_Mutation_p.G390E|PXN_ENST00000458477.2_Missense_Mutation_p.G225E|PXN_ENST00000424649.2_Missense_Mutation_p.G358E|PXN_ENST00000267257.7_Missense_Mutation_p.G406E P49023 PAXI_HUMAN paxillin 392 cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly cytoplasm|focal adhesion|lamellipodium|microtubule associated complex beta-catenin binding|vinculin binding|zinc ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTTCCGGGATCCGATCTCCTC 0.612000 23 66 0 0 0.014323 0 0 IDO2 169355 broad.mit.edu 37 8 39873110 39873110 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:39873110C>T ENST00000502986.2 + 11 1494 c.1252C>T c.(1252-1254)Cca>Tca p.P418S IDO2_ENST00000389060.4_Missense_Mutation_p.P405S|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 405 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 AATCCTTCACCCACGTGGTTA 0.572000 19 38 0 0 0.007413 0 0 GJB4 127534 broad.mit.edu 37 1 35227278 35227278 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:35227278G>A ENST00000339480.1 + 2 793 c.423G>A c.(421-423)gtG>gtA p.V141V RP1-34M23.5_ENST00000542839.1_RNA NM_153212.2 NP_694944.1 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4, 30.3kDa 141 cell communication connexon complex|integral to membrane gap junction channel activity 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) AGGCCGCCGTGGATGCTGGCT 0.607000 19 63 0 0 0.008871 0 0 DST 667 broad.mit.edu 37 6 56513381 56513381 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:56513381G>A ENST00000370754.5 - 12 1441 c.1442C>T c.(1441-1443)cCt>cTt p.P481L DST_ENST00000370788.2_Missense_Mutation_p.P303L|DST_ENST00000312431.6_Missense_Mutation_p.P303L|DST_ENST00000421834.2_Missense_Mutation_p.P303L|DST_ENST00000370769.4_Missense_Mutation_p.P303L|DST_ENST00000361203.3_Missense_Mutation_p.P303L Q03001 DYST_HUMAN dystonin 303 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) CAGTTCTACAGGATTATTAGG 0.338000 8 9 0 0 0.004482 0 0 MGAT3 4248 broad.mit.edu 37 22 39884916 39884916 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:39884916C>T ENST00000341184.6 + 2 1779 c.1564C>T c.(1564-1566)Ccg>Tcg p.P522S NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 522 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) CGAGGGAAGGCCGCCCGCCCG 0.677000 6 6 0 0 0.021553 0 0 LMTK3 114783 broad.mit.edu 37 19 49000828 49000828 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:49000828C>T ENST00000600059.1 - 11 3725 c.3498G>A c.(3496-3498)ccG>ccA p.P1166P LMTK3_ENST00000270238.3_Silent_p.P1195P lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GCCTGGCTCTCGGGGGCGCTG 0.756000 4 16 0 0 0.009096 0 0 MIR563 693148 broad.mit.edu 37 3 15915345 15915345 + RNA SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:15915345C>T ENST00000385080.1 + 0 68 NR_030289.1 ACATACGTTTCCCTGGTAGCC 0.388000 9 44 0 0 0.006214 0 0 DMBT1 1755 broad.mit.edu 37 10 124395546 124395546 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:124395546C>T ENST00000338354.3 + 50 6307 c.6201C>T c.(6199-6201)ttC>ttT p.F2067F DMBT1_ENST00000344338.3_Silent_p.F2057F|DMBT1_ENST00000359586.6_Silent_p.F787F|DMBT1_ENST00000330163.4_Silent_p.F1439F|DMBT1_ENST00000368955.3_Silent_p.F2057F|DMBT1_ENST00000368956.2_Silent_p.F1439F|DMBT1_ENST00000368909.3_Silent_p.F2067F Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 2067 CUB 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTGAAGTTTTCGATGGCCCCT 0.502000 14 41 0 0 0.020292 0 0 NPAP1 23742 broad.mit.edu 37 15 24923207 24923207 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:24923207G>A ENST00000329468.2 + 1 2667 c.2193G>A c.(2191-2193)ggG>ggA p.G731G NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CTGGTTCTGGGAACACACAAC 0.537000 40 102 0 0 0.023175 0 0 CCNA1 8900 broad.mit.edu 37 13 37006838 37006838 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:37006838G>A ENST00000418263.1 + 1 430 c.80G>A c.(79-81)gGa>gAa p.G27E CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000255465.4_Missense_Mutation_p.G27E NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 27 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) AGCTGGGAAGGACCGGGGCTC 0.547000 4 14 0 0 0.009096 0 0 TBX5 6910 broad.mit.edu 37 12 114793507 114793507 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:114793507G>A ENST00000310346.4 - 9 2053 c.1387C>T c.(1387-1389)Cac>Tac p.H463Y TBX5_ENST00000349716.5_Missense_Mutation_p.H413Y|TBX5_ENST00000405440.2_Missense_Mutation_p.H463Y NM_000192.3 NP_000183.2 Q99593 TBX5_HUMAN T-box 5 463 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) ACAGGCTGGTGGGCCACGGAG 0.662000 29 26 0 0 0.009535 0 0 BMI1 648 broad.mit.edu 37 10 22615839 22615839 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:22615839C>T ENST00000376663.3 + 3 638 c.133C>T c.(133-135)Cgt>Tgt p.R45C COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.R188C NM_005180.8 NP_005171.4 BMI1 polycomb ring finger oncogene breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1) 12 GTGTATTGTTCGTTACCTGGA 0.363000 63 120 0 0 0.014410 0 0 ABCA1 19 broad.mit.edu 37 9 107599324 107599324 + Nonsense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:107599324C>T ENST00000374736.3 - 11 1642 c.1248G>A c.(1246-1248)tgG>tgA p.W416* NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 416 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGAGTTCCTCCCACATGCCTT 0.547000 16 28 0 0 0.033300 0 0 SCNN1G 6340 broad.mit.edu 37 16 23224037 23224037 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:23224037G>A ENST00000300061.2 + 9 1476 c.1333G>A c.(1333-1335)Gaa>Aaa p.E445K CTC-391G2.1_ENST00000563471.1_RNA NM_001039.3 NP_001030.2 P51170 SCNNG_HUMAN sodium channel, non-voltage-gated 1, gamma subunit 445 excretion|sensory perception of taste apical plasma membrane|integral to plasma membrane ligand-gated sodium channel activity|WW domain binding NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 34 GBM - Glioblastoma multiforme(48;0.0366) Amiloride(DB00594)|Triamterene(DB00384) CTTTGTCCAGGAAGAGCTGGG 0.587000 16 71 0 0 0.033300 0 0 PORCN 64840 broad.mit.edu 37 X 48371041 48371041 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:48371041C>T ENST00000367574.4 + 6 912 c.407C>T c.(406-408)tCc>tTc p.S136F PORCN_ENST00000359882.4_Missense_Mutation_p.S207F|PORCN_ENST00000537758.1_Missense_Mutation_p.S207F|PORCN_ENST00000326194.6_Missense_Mutation_p.S207F|PORCN_ENST00000355961.4_Missense_Mutation_p.S207F|PORCN_ENST00000355092.3_Missense_Mutation_p.S207F|PORCN_ENST00000361988.3_Missense_Mutation_p.S207F Q9H237 PORCN_HUMAN porcupine homolog (Drosophila) 207 S -> F (in FODH). Wnt receptor signaling pathway endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CTTGTGCTGTCCACTTGCGTG 0.642000 22 5 0 0 0.021523 0 0 CLCN1 1180 broad.mit.edu 37 7 143036389 143036389 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:143036389G>A ENST00000343257.2 + 13 1532 c.1445G>A c.(1444-1446)gGa>gAa p.G482E NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 482 G -> R (in MCR). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ATACCCTGCGGAGGCTTCATG 0.502000 53 199 0 0 0.014410 0 0 MTHFR 4524 broad.mit.edu 37 1 11856335 11856335 + Silent SNP G G A rs34279942 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:11856335G>A ENST00000376592.1 - 4 836 c.708C>T c.(706-708)ttC>ttT p.F236F MTHFR_ENST00000376585.1_Silent_p.F277F|MTHFR_ENST00000376583.3_Silent_p.F277F|MTHFR_ENST00000376590.3_Silent_p.F236F P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 236 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) CAAAGCGGAAGAATGTGTCAG 0.557000 69 192 0 0 0.014410 0 0 NGLY1 55768 broad.mit.edu 37 3 25805745 25805745 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:25805745G>A ENST00000428257.1 - 3 411 c.304C>T c.(304-306)Cgt>Tgt p.R102C NGLY1_ENST00000422724.2_Missense_Mutation_p.R25C|NGLY1_ENST00000417874.2_Missense_Mutation_p.R60C|NGLY1_ENST00000280700.5_Missense_Mutation_p.R102C|NGLY1_ENST00000396649.3_Missense_Mutation_p.R102C NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 102 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding p.R102S(1)|p.R102C(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 ATCAGGTCACGAATTTTTTGC 0.403000 34 128 0 0 0.017118 0 0 CERS3 204219 broad.mit.edu 37 15 100943031 100943031 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:100943031C>T ENST00000284382.4 - 13 1462 c.1039G>A c.(1039-1041)Gag>Aag p.E347K RP11-168G16.2_ENST00000560718.1_RNA|CERS3_ENST00000538112.2_Missense_Mutation_p.E347K|CERS3_ENST00000560944.1_5'UTR|CERS3_ENST00000394113.1_Missense_Mutation_p.E347K|RP11-168G16.2_ENST00000560643.1_RNA NM_178842.3 NP_849164.2 Q8IU89 CERS3_HUMAN ceramide synthase 3 347 Poly-Glu. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity tcctcttcctcttcATAATCC 0.468000 5 13 0 0 0.014758 0 0 RUNX1T1 862 broad.mit.edu 37 8 92998378 92998378 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:92998378G>A ENST00000523629.1 - 9 1707 c.1253C>T c.(1252-1254)cCc>cTc p.P418L RUNX1T1_ENST00000360348.2_Missense_Mutation_p.P381L|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.P418L|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P391L|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.P381L|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P391L|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.P429L|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.P381L NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 418 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TGGGTTGACGGGACTCTGCTG 0.458000 49 177 0 0 0.014410 0 0 DNAH5 1767 broad.mit.edu 37 5 13920681 13920681 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:13920681C>T ENST00000265104.4 - 6 810 c.706G>A c.(706-708)Gaa>Aaa p.E236K NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 236 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity 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) TCCGTAGGTTCCTTTAGGGTT 0.353000 Kartagener syndrome 21 40 0 0 0.008871 0 0 SARS2 54938 broad.mit.edu 37 19 39408363 39408363 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:39408363C>T ENST00000221431.6 - 12 1320 c.e12+1 CTC-360G5.8_ENST00000599996.1_Splice_Site|SARS2_ENST00000600042.1_Splice_Site|SARS2_ENST00000594171.1_Splice_Site|SARS2_ENST00000598831.1_Splice_Site|SARS2_ENST00000448145.2_Splice_Site|SARS2_ENST00000430193.3_Splice_Site NM_017827.3 NP_060297.1 Q9NP81 SYSM_HUMAN seryl-tRNA synthetase 2, mitochondrial seryl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|serine-tRNA ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CCTCTCCACACCGGAAGTGCA 0.642000 22 69 0 0 0.012319 0 0 ROBO2 6092 broad.mit.edu 37 3 77656973 77656973 + Missense_Mutation SNP A A T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:77656973A>T ENST00000461745.1 + 21 4061 c.3161A>T c.(3160-3162)aAa>aTa p.K1054I ROBO2_ENST00000487694.3_Missense_Mutation_p.K1070I|ROBO2_ENST00000332191.8_Missense_Mutation_p.K1054I|ROBO2_ENST00000469233.1_3'UTR NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1054 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAAAAGAAGAAAAATAAAAAC 0.433000 11 35 0 0 0.010729 0 0 SLC13A2 9058 broad.mit.edu 37 17 26822813 26822813 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:26822813C>T ENST00000444914.3 + 10 2016 c.1596C>T c.(1594-1596)ttC>ttT p.F532F SLC13A2_ENST00000537681.1_Silent_p.F412F|SLC13A2_ENST00000545060.1_Silent_p.F440F|SLC13A2_ENST00000314669.5_Silent_p.F483F NM_001145975.1 NP_001139447.1 Q13183 S13A2_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 483 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CTACGATCTTCCTGCCCATCC 0.632000 36 64 0 0 0.027894 0 0 DHTKD1 55526 broad.mit.edu 37 10 12162808 12162808 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:12162808C>T ENST00000263035.4 + 17 2743 c.2681C>T c.(2680-2682)cCt>cTt p.P894L NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 894 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding p.P894L(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) GGCCGGCCCCCTTTGCCAGTA 0.478000 106 380 0 0 0.014410 0 0 KIF1B 23095 broad.mit.edu 37 1 10364548 10364548 + Missense_Mutation SNP A A G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:10364548A>G ENST00000377093.4 + 21 3458 c.3305A>G c.(3304-3306)aAt>aGt p.N1102S KIF1B_ENST00000377083.1_Missense_Mutation_p.N1102S|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 0 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) TCTTACTGTAATTATAACACT 0.507000 47 26 0 0 0.014410 0 0 BRINP1 1620 broad.mit.edu 37 9 121971120 121971120 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:121971120C>T ENST00000265922.3 - 7 1483 c.1022G>A c.(1021-1023)cGc>cAc p.R341H DBC1_ENST00000482797.1_5'UTR NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 341 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GAGCTTGTAGCGGTTCTGCAG 0.552000 24 53 0 0 0.018920 0 0 PNMA5 114824 broad.mit.edu 37 X 152158843 152158843 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:152158843C>T ENST00000439251.1 - 2 1738 c.1300G>A c.(1300-1302)Gag>Aag p.E434K PNMA5_ENST00000361887.5_Missense_Mutation_p.E434K|PNMA5_ENST00000535214.1_Missense_Mutation_p.E434K|PNMA5_ENST00000452693.1_Missense_Mutation_p.E434K NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 434 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) GCCCCTGCCTCGTTTCCCAAC 0.612000 50 24 0 0 0.014410 0 0 RBM42 79171 broad.mit.edu 37 19 36124004 36124004 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:36124004C>T ENST00000588161.1 + 5 568 c.442_splice c.e5-1 p.A148_splice RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Silent_p.A124A|RBM42_ENST00000262633.4_Silent_p.A178A|RBM42_ENST00000589871.1_Silent_p.A156A|RBM42_ENST00000360475.4_Silent_p.A149A|RBM42_ENST00000589559.1_Silent_p.A149A Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 148 cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CTGCAGCAGCCGGCCCCCGCC 0.682000 40 131 0 0 0.033182 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502848 140502848 + Missense_Mutation SNP C C A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:140502848C>A ENST00000194152.1 + 1 1268 c.1268C>A c.(1267-1269)aCt>aAt p.T423N NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 423 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding 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) ATCGCCGTCACTGACTTGGGG 0.517000 7 62 5.18039e-06 5.28348e-06 0.003080 1 0 KMT2B 9757 broad.mit.edu 37 19 36223175 36223175 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:36223175C>T ENST00000420124.1 + 28 5725 c.5725C>T c.(5725-5727)Ccc>Tcc p.P1909S KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.P1909S CTTCCCAGCTCCCCCCAGACG 0.652000 5 8 0 0 0.021553 0 0 SUFU 51684 broad.mit.edu 37 10 104357021 104357021 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:104357021G>A ENST00000369902.3 + 7 1047 c.881G>A c.(880-882)gGc>gAc p.G294D SUFU_ENST00000369899.2_Missense_Mutation_p.G294D|SUFU_ENST00000471000.1_3'UTR|SUFU_ENST00000423559.2_Missense_Mutation_p.G294D NM_016169.3 NP_057253.2 Q9UMX1 SUFU_HUMAN suppressor of fused homolog (Drosophila) 294 negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development cytoplasm|nucleus identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 24 Colorectal(252;0.207) Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242) ATCTGCATCGGCACACAGCCC 0.617000 """D, F, S""" medulloblastoma medulloblastoma Medulloblastoma, associated with Germline SUFU Mutation OREG0020482 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 93 0 0 0.009096 0 0 HGF 3082 broad.mit.edu 37 7 81381466 81381466 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:81381466C>T ENST00000222390.5 - 5 821 c.595G>A c.(595-597)Gaa>Aaa p.E199K HGF_ENST00000444829.2_Missense_Mutation_p.E199K|HGF_ENST00000457544.2_Missense_Mutation_p.E194K|HGF_ENST00000423064.2_Missense_Mutation_p.E199K|HGF_ENST00000453411.1_Missense_Mutation_p.E194K NM_000601.4 NP_000592.3 P14210 HGF_HUMAN hepatocyte growth factor (hepapoietin A; scatter factor) 199 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity p.E199K(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 TCACAGACTTCGTAGCGTACC 0.468000 26 61 0 0 0.034045 0 0 TSIX 9383 broad.mit.edu 37 X 73046482 73046482 + RNA SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:73046482C>T ENST00000604411.1 + 0 34443 XIST_ENST00000429829.1_lincRNA NR_003255.2 TTAGGGTTCTCATCTTGGGAT 0.428000 55 40 0 0 0.014410 0 0 COX18 285521 broad.mit.edu 37 4 73923972 73923972 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:73923972G>A ENST00000295890.4 - 6 952 c.861C>T c.(859-861)ttC>ttT p.F287F COX18_ENST00000507544.2_Silent_p.F288F NM_173827.2 NP_776188.1 Q8N8Q8 COX18_HUMAN COX18 cytochrome C oxidase assembly factor 287 protein insertion into mitochondrial membrane|respiratory chain complex IV assembly integral to mitochondrial inner membrane protein transporter activity p.F287F(1) large_intestine(4)|lung(2) 6 Breast(15;0.00096) Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AAAGGCCCACGAAGCTGGAGC 0.408000 12 23 0 0 0.016723 0 0 LRP1B 53353 broad.mit.edu 37 2 141460005 141460005 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:141460005G>A ENST00000389484.3 - 38 7112 c.6141C>T c.(6139-6141)atC>atT p.I2047I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2047 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) CCTCATAGTCGATGGAGATGC 0.398000 TSP Lung(27;0.18) 16 46 0 0 0.033300 0 0 RMND5B 64777 broad.mit.edu 37 5 177569981 177569981 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:177569981G>A ENST00000515098.1 + 6 765 c.414G>A c.(412-414)gaG>gaA p.E138E RMND5B_ENST00000313386.4_Silent_p.E138E|RMND5B_ENST00000542098.1_Silent_p.E125E Q96G75 RMD5B_HUMAN required for meiotic nuclear division 5 homolog B (S. cerevisiae) 138 LisH. endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 17 all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGTGGCCGAGGAGCTGTGCC 0.592000 10 41 0 0 0.006214 0 0 SLA2 84174 broad.mit.edu 37 20 35269716 35269716 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:35269716C>T ENST00000262866.4 - 2 445 c.23G>A c.(22-24)aGa>aAa p.R8K SLA2_ENST00000360672.2_Missense_Mutation_p.R8K NM_032214.3|NM_175077.2 NP_115590.1|NP_778252.1 Q9H6Q3 SLAP2_HUMAN Src-like-adaptor 2 8 antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane protein N-terminus binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) CAGAGATTTTCTTCTGCTGGG 0.557000 25 60 0 0 0.027356 0 0 NR0B2 8431 broad.mit.edu 37 1 27239984 27239984 + Nonsense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:27239984G>A ENST00000254227.3 - 1 473 c.448C>T c.(448-450)Caa>Taa p.Q150* NM_021969.2 NP_068804.1 Q15466 NR0B2_HUMAN nuclear receptor subfamily 0, group B, member 2 150 Ligand-binding (By similarity). cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity NS(1)|large_intestine(1)|lung(3) 5 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) AGACAGCATTGAAGCCACTGC 0.597000 55 23 0 0 0.014410 0 0 GKAP1 80318 broad.mit.edu 37 9 86357495 86357495 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:86357495G>A ENST00000376371.2 - 11 1325 c.925C>T c.(925-927)Ctt>Ttt p.L309F GKAP1_ENST00000376362.1_5'UTR|GKAP1_ENST00000376365.3_Missense_Mutation_p.L258F NM_025211.3 NP_079487.2 Q5VSY0 GKAP1_HUMAN G kinase anchoring protein 1 309 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 ACTTGCAGAAGTATTTCTGCC 0.363000 18 82 0 0 0.006122 0 0 PHLPP2 23035 broad.mit.edu 37 16 71710360 71710360 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:71710360G>A ENST00000393524.2 - 8 2194 c.1461C>T c.(1459-1461)gcC>gcT p.A487A PHLPP2_ENST00000567016.1_Silent_p.A522A|PHLPP2_ENST00000356272.3_Silent_p.A487A|PHLPP2_ENST00000568954.1_Silent_p.A487A|PHLPP2_ENST00000360429.3_Silent_p.A487A Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 487 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TGTTGGAACTGGCATAGAGGG 0.502000 17 34 0 0 0.007413 0 0 ZNF683 257101 broad.mit.edu 37 1 26691525 26691525 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:26691525G>A ENST00000436292.1 - 4 632 c.512C>T c.(511-513)gCt>gTt p.A171V ZNF683_ENST00000349618.3_Missense_Mutation_p.A171V|ZNF683_ENST00000403843.1_Missense_Mutation_p.A171V|ZNF683_ENST00000374204.1_Missense_Mutation_p.A171V Q8IZ20 ZN683_HUMAN zinc finger protein 683 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GGGGCAGAAAGCCAAGGGGCT 0.617000 14 13 0 0 0.024245 0 0 ZNF676 163223 broad.mit.edu 37 19 22363330 22363330 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:22363330C>T ENST00000397121.2 - 3 1506 c.1189G>A c.(1189-1191)Gaa>Aaa p.E397K NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTGCCACATTCTTCACATTTG 0.418000 15 49 0 0 0.006122 0 0 BTN1A1 696 broad.mit.edu 37 6 26508969 26508969 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:26508969G>A ENST00000244513.6 + 7 1214 c.1148G>A c.(1147-1149)gGa>gAa p.G383E NM_001732.2 NP_001723.2 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 383 B30.2/SPRY. extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 ATGAAGAAAGGATTTGACCCC 0.552000 44 124 0 0 0.033182 0 0 UBR5 51366 broad.mit.edu 37 8 103338881 103338881 + Missense_Mutation SNP G G C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:103338881G>C ENST00000520539.1 - 13 2098 c.1492C>G c.(1492-1494)Cct>Gct p.P498A UBR5_ENST00000521922.1_Missense_Mutation_p.P492A|UBR5_ENST00000220959.4_Missense_Mutation_p.P498A NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 498 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TGACTAAAAGGAACTACACCC 0.328000 23 18 0 0 0.018920 0 0 PAPD4 167153 broad.mit.edu 37 5 78964811 78964811 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:78964811C>T ENST00000453514.1 + 12 1861 c.1168C>T c.(1168-1170)Ctc>Ttc p.L390F PAPD4_ENST00000296783.3_Missense_Mutation_p.L390F|PAPD4_ENST00000428308.2_Missense_Mutation_p.L390F|PAPD4_ENST00000504233.1_Missense_Mutation_p.L347F|PAPD4_ENST00000423041.2_Missense_Mutation_p.L386F NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 390 PAP-associated. histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) CCTTGGGGACCTCTTACTGGG 0.368000 45 76 0 0 0.014410 0 0 IMPG1 3617 broad.mit.edu 37 6 76712660 76712660 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:76712660C>T ENST00000369950.3 - 12 1455 c.1266G>A c.(1264-1266)gtG>gtA p.V422V IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 422 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity 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) CTGCTCCGTCCACTGTCTCAA 0.433000 19 52 0 0 0.008871 0 0 KCND3 3752 broad.mit.edu 37 1 112524279 112524279 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:112524279G>A ENST00000369697.1 - 1 1139 c.1070C>T c.(1069-1071)tCg>tTg p.S357L KCND3_ENST00000315987.2_Missense_Mutation_p.S357L|KCND3_ENST00000302127.4_Missense_Mutation_p.S357L Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 357 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) GTACCAAAACGAGGCAGGGAT 0.537000 24 24 0 0 0.016522 0 0 TP53TG3D 729264 broad.mit.edu 37 16 32265026 32265026 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:32265026G>A ENST00000398664.3 + 1 987 c.352G>A c.(352-354)Ggg>Agg p.G118R TP53TG3D_ENST00000569631.1_Intron|TP53TG3D_ENST00000354614.3_Missense_Mutation_p.G118R|RP11-56L13.7_ENST00000562604.1_RNA NM_001243722.1 NP_001230651.1 TP53 target 3D CTCCGCGGCAGGGTTGTCAAG 0.602000 21 91 0 0 0.016522 0 0 CYC1 1537 broad.mit.edu 37 8 145151057 145151057 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:145151057G>A ENST00000318911.4 + 3 430 c.357G>A c.(355-357)caG>caA p.Q119Q NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 119 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 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;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TATATAAGCAGGTGTGCGCCT 0.597000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 151 173 0 0 0.014410 0 0 ZFHX3 463 broad.mit.edu 37 16 72991913 72991913 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:72991913G>A ENST00000268489.5 - 2 2804 c.2132C>T c.(2131-2133)cCc>cTc p.P711L ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 711 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) TGCCAGCCGGGGGTGGGGCTG 0.582000 38 92 0 0 0.023175 0 0 IFRD2 7866 broad.mit.edu 37 3 50326110 50326110 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:50326110G>A ENST00000436390.1 - 13 1553 c.1056C>T c.(1054-1056)ttC>ttT p.F352F IFRD2_ENST00000417626.2_Silent_p.F352F|IFRD2_ENST00000429673.2_Silent_p.F416F|IFRD2_ENST00000336089.4_Silent_p.F518F Q12894 IFRD2_HUMAN interferon-related developmental regulator 2 416 binding breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 14 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CCTCAAAGCCGAAGCGCACTA 0.607000 12 19 0 0 0.013537 0 0 PLCH1 23007 broad.mit.edu 37 3 155200622 155200622 + Missense_Mutation SNP T T C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:155200622T>C ENST00000460012.1 - 23 3460 c.3103A>G c.(3103-3105)Aat>Gat p.N1035D PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.N1035D|PLCH1_ENST00000334686.6_Missense_Mutation_p.N1035D|PLCH1_ENST00000340059.7_Missense_Mutation_p.N1073D Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1073 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCCTGGCAATTGCTTGTGGCA 0.522000 45 148 0 0 0.013114 0 0 CFAP54 144535 broad.mit.edu 37 12 97136274 97136274 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:97136274G>A ENST00000524981.3 + 19 2482 c.2482G>A c.(2482-2484)Gaa>Aaa p.E828K Q6ZTY8 CL063_HUMAN 802 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 AAATGCCCGAGAATATTTCAA 0.353000 12 28 0 0 0.010729 0 0 ABCA13 154664 broad.mit.edu 37 7 48392067 48392067 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:48392067C>T ENST00000435803.1 + 31 10695 c.10671C>T c.(10669-10671)ccC>ccT p.P3557P NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 3557 transport integral to membrane ATP binding|ATPase activity 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 CCCCTTACCCCTGCCATACCA 0.557000 4 16 0 0 0.009096 0 0 SLC17A7 57030 broad.mit.edu 37 19 49933840 49933840 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:49933840G>A ENST00000221485.3 - 12 1790 c.1619C>T c.(1618-1620)tCc>tTc p.S540F SLC17A7_ENST00000600601.1_Missense_Mutation_p.S473F|SLC17A7_ENST00000543531.1_Missense_Mutation_p.S528F NM_020309.3 NP_064705.1 Q9P2U7 VGLU1_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 7 540 Pro-rich. glutamate secretion|neurotransmitter secretion cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 26 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245) GGCCCCATAGGAGGGCGGGGG 0.652000 13 34 0 0 0.016723 0 0 TENM1 10178 broad.mit.edu 37 X 123775804 123775804 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:123775804G>A ENST00000422452.2 - 11 1977 c.1914C>T c.(1912-1914)atC>atT p.I638I TENM1_ENST00000371130.3_Silent_p.I638I NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 CTTTTACACAGATGCCATGGT 0.488000 93 66 0 0 0.014410 0 0 NUCKS1 64710 broad.mit.edu 37 1 205696889 205696889 + Nonsense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:205696889G>A ENST00000367142.4 - 3 414 c.112C>T c.(112-114)Cga>Tga p.R38* NM_022731.4 NP_073568.2 Q9H1E3 NUCKS_HUMAN nuclear casein kinase and cyclin-dependent kinase substrate 1 38 nucleus endometrium(4)|large_intestine(1)|lung(9) 14 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) GGAGATGATCGAATTTTCTTA 0.363000 10 41 0 0 0.010729 0 0 ABCA7 10347 broad.mit.edu 37 19 1054604 1054604 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:1054604C>T ENST00000263094.6 + 28 3993 c.3762C>T c.(3760-3762)ctC>ctT p.L1254L ABCA7_ENST00000435683.2_Silent_p.L1116L|ABCA7_ENST00000433129.1_Silent_p.L1254L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1254 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTGGCCCTCGTGTTCAGCC 0.632000 28 27 0 0 0.034045 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107905 26107905 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:26107905C>T ENST00000338379.4 - 1 459 c.417G>A c.(415-417)agG>agA p.R139R NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 139 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 ACTTGGAGTCCCTGGATAAAA 0.453000 23 74 0 0 0.014323 0 0 POLR2I 5438 broad.mit.edu 37 19 36604965 36604965 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:36604965G>A ENST00000221859.4 - 5 756 c.267C>T c.(265-267)tgC>tgT p.C89C NM_006233.4 NP_006224.1 P36954 RPB9_HUMAN polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa 89 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding kidney(1)|large_intestine(1)|ovary(1) 3 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CCTTGTGGCCGCACCTGAGAG 0.607000 OREG0025437 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 151 0 0 0.021553 0 0 IP6K3 117283 broad.mit.edu 37 6 33694609 33694609 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:33694609C>T ENST00000451316.1 - 5 1023 c.488G>A c.(487-489)gGa>gAa p.G163E IP6K3_ENST00000293756.4_Missense_Mutation_p.G163E NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 163 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 AACCTGGTTTCCGTTGGTGTC 0.637000 34 94 0 0 0.019004 0 0 BTNL8 79908 broad.mit.edu 37 5 180335629 180335629 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:180335629G>A ENST00000231229.4 + 2 327 c.93G>A c.(91-93)ttG>ttA p.L31L BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Silent_p.L31L|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Silent_p.L31L NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 31 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCAGGCCTTGGTGGGGGAGG 0.547000 7 75 0 0 0.004482 0 0 DNAH3 55567 broad.mit.edu 37 16 21048133 21048133 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:21048133G>A ENST00000261383.3 - 35 4987 c.4988C>T c.(4987-4989)cCa>cTa p.P1663L DNAH3_ENST00000415178.1_Missense_Mutation_p.P1663L NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1663 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GTCTGGCTTTGGAAGAACAAC 0.328000 20 30 0 0 0.012319 0 0 VPS13D 55187 broad.mit.edu 37 1 12326959 12326959 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:12326959C>T ENST00000358136.3 + 14 1746 c.1616C>T c.(1615-1617)tCt>tTt p.S539F VPS13D_ENST00000356315.4_Missense_Mutation_p.S539F NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 539 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CTAGCAGAGTCTCTTCCTCGA 0.358000 20 15 0 0 0.010504 0 0 GRIK4 2900 broad.mit.edu 37 11 120838011 120838011 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:120838011G>A ENST00000527524.2 + 19 2661 c.2374G>A c.(2374-2376)Gag>Aag p.E792K GRIK4_ENST00000438375.2_Missense_Mutation_p.E792K Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 792 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) GTGCCCCAAGGAGGAAGATCA 0.532000 12 20 0 0 0.024245 0 0 TTN 7273 broad.mit.edu 37 2 179568878 179568878 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:179568878G>A ENST00000589042.1 - 106 30443 c.30219C>T c.(30217-30219)atC>atT p.I10073I TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.I9756I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.I8829I|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9756 Glu-rich. 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) ACGCACCTTCGATTCTGAGTT 0.468000 14 136 0 0 0.028581 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37727924 37727924 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:37727924C>T ENST00000524118.1 - 3 1939 c.1301G>A c.(1300-1302)aGa>aAa p.R434K RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000330843.4_Intron|RAB11FIP1_ENST00000523182.1_Intron|RAB11FIP1_ENST00000522727.1_Intron Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 0 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) ACACCAGCTTCTCAGAGGACA 0.502000 3 9 0 0 0.004672 0 0 COL4A5 1287 broad.mit.edu 37 X 107865092 107865092 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:107865092C>T ENST00000328300.6 + 32 2981 c.2737C>T c.(2737-2739)Cct>Tct p.P913S COL4A5_ENST00000361603.2_Missense_Mutation_p.P913S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 913 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding 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 TTTGGGAATTCCTGGCAGGAG 0.423000 Alport syndrome with Diffuse Leiomyomatosis 18 15 0 0 0.012319 0 0 CRP 1401 broad.mit.edu 37 1 159683929 159683929 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:159683929C>T ENST00000255030.5 - 2 165 c.e2-1 CRP_ENST00000368111.1_Splice_Site|CRP_ENST00000368110.1_Splice_Site|CRP_ENST00000437342.1_Intron|CRP_ENST00000368112.1_Splice_Site|CRP_ENST00000343919.2_Splice_Site NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) CTCGACATGTCTGTGAGCCAG 0.438000 35 68 0 0 0.019004 0 0 NUP85 79902 broad.mit.edu 37 17 73214302 73214302 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:73214302C>T ENST00000245544.4 + 7 569 c.498C>T c.(496-498)ctC>ctT p.L166L NUP85_ENST00000447371.2_Intron|NUP85_ENST00000541827.1_Silent_p.L120L|NUP85_ENST00000449421.2_3'UTR|NUP85_ENST00000579298.1_Silent_p.L166L|NUP85_ENST00000579324.1_Silent_p.L54L NM_024844.3 NP_079120.1 Q9BW27 NUP85_HUMAN nucleoporin 85kDa 166 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) TCCTCCATCTCCTTGACTGGG 0.527000 33 44 0 0 0.012213 0 0 KCNB2 9312 broad.mit.edu 37 8 73850264 73850264 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:73850264C>T ENST00000523207.1 + 3 3262 c.2674C>T c.(2674-2676)Cca>Tca p.P892S NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 892 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CTTGTTTGCCCCAGAAATTCA 0.413000 14 72 0 0 0.020292 0 0 OR10K1 391109 broad.mit.edu 37 1 158436236 158436236 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:158436236G>A ENST00000289451.2 + 1 965 c.885G>A c.(883-885)aaG>aaA p.K295K NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TGAGAAATAAGGAATTCAAAT 0.378000 17 48 0 0 0.006122 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431982 117431982 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:117431982G>A ENST00000160373.3 - 4 1359 c.1268C>T c.(1267-1269)cCa>cTa p.P423L NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 423 Pro-rich. breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GTGCATAGGTGGAGCTTGCGA 0.517000 60 195 0 0 0.014410 0 0 APOB 338 broad.mit.edu 37 2 21229486 21229486 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:21229486C>T ENST00000233242.1 - 26 10381 c.10254G>A c.(10252-10254)acG>acA p.T3418T NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3418 Heparin-binding. 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 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) CCATATTTTTCGTGGTTAAGC 0.388000 224 492 0 0 0.014410 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 36 48 0 0 0.030466 0 0 DNA2 1763 broad.mit.edu 37 10 70227960 70227960 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:70227960G>A ENST00000399180.2 - 3 618 c.619C>T c.(619-621)Cca>Tca p.P207S DNA2_ENST00000358410.3_Missense_Mutation_p.P121S|DNA2_ENST00000399179.2_Missense_Mutation_p.P121S P51530 DNA2L_HUMAN DNA replication helicase/nuclease 2 121 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1) 20 AGCATGTCTGGATACAGAATC 0.388000 8 29 0 0 0.006214 0 0 ABI3BP 25890 broad.mit.edu 37 3 100527029 100527029 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:100527029G>A ENST00000471714.1 - 50 3788 c.3679C>T c.(3679-3681)Cca>Tca p.P1227S ABI3BP_ENST00000383691.4_Missense_Mutation_p.P504S|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P550S Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 550 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 GGGATTCTTGGGCGTGGTGAT 0.393000 10 21 0 0 0.010729 0 0 TRIM28 10155 broad.mit.edu 37 19 59059687 59059687 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:59059687C>T ENST00000253024.5 + 8 1417 c.1128C>T c.(1126-1128)ctC>ctT p.L376L TRIM28_ENST00000341753.6_Silent_p.L294L NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 376 Leucine zipper alpha helical coiled-coil region.|RBCC domain. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(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;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) ACCGGGCCCTCAAGATGATTG 0.542000 21 64 0 0 0.010504 0 0 PRPH2 5961 broad.mit.edu 37 6 42690018 42690018 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:42690018C>T ENST00000230381.5 - 1 294 c.55G>A c.(55-57)Ggg>Agg p.G19R NM_000322.4 NP_000313.2 P23942 PRPH2_HUMAN peripherin 2 (retinal degeneration, slow) 19 cell adhesion|visual perception integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) AGCCAGAGCCCTTGGGCCAAC 0.532000 25 65 0 0 0.027356 0 0 CHAT 1103 broad.mit.edu 37 10 50856581 50856581 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:50856581G>A ENST00000395562.2 + 10 1533 c.1064G>A c.(1063-1065)gGt>gAt p.G355D CHAT_ENST00000455728.2_Missense_Mutation_p.G319D|CHAT_ENST00000351556.3_Missense_Mutation_p.G319D|CHAT_ENST00000395559.2_Missense_Mutation_p.G319D|CHAT_ENST00000339797.1_Missense_Mutation_p.G319D|CHAT_ENST00000337653.2_Missense_Mutation_p.G437D NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 437 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GGCACCTGCGGTGTGGTGTGC 0.607000 9 26 0 0 0.006214 0 0 DOCK2 1794 broad.mit.edu 37 5 169474612 169474612 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:169474612C>T ENST00000256935.8 + 40 4145 c.4065C>T c.(4063-4065)ttC>ttT p.F1355F DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.F847F|DOCK2_ENST00000540750.1_Silent_p.F416F NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1355 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCCCTCCTTCCTGCGGGTGA 0.537000 18 31 0 0 0.033300 0 0 SLC44A2 57153 broad.mit.edu 37 19 10736962 10736962 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:10736962G>A ENST00000586078.1 + 2 180 c.71G>A c.(70-72)gGa>gAa p.G24E SLC44A2_ENST00000407327.4_Missense_Mutation_p.G22E|SLC44A2_ENST00000335757.5_Missense_Mutation_p.G24E NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 24 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) ACTTTCAAAGGACCCATTTAC 0.507000 31 109 0 0 0.021022 0 0 OR13C3 138803 broad.mit.edu 37 9 107298400 107298400 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:107298400G>A ENST00000374781.2 - 1 737 c.695C>T c.(694-696)tCa>tTa p.S232L NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 232 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 GGCCATATTTGATATCACCAT 0.398000 22 60 0 0 0.014323 0 0 MUC16 94025 broad.mit.edu 37 19 9089206 9089206 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:9089206G>A ENST00000397910.4 - 1 2812 c.2609C>T c.(2608-2610)tCg>tTg p.S870L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 870 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGATGGATTCGAAGTTTCCTC 0.483000 14 37 0 0 0.020292 0 0 VWF 7450 broad.mit.edu 37 12 6103063 6103063 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:6103063C>T ENST00000261405.5 - 37 6817 c.6563G>A c.(6562-6564)gGg>gAg p.G2188E NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2188 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AACGCAGACCCCGTTGGTCCG 0.557000 13 65 0 0 0.020292 0 0 ADCY1 107 broad.mit.edu 37 7 45743040 45743040 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:45743040C>T ENST00000297323.7 + 15 2542 c.2520C>T c.(2518-2520)ctC>ctT p.L840L NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 840 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) TCTTCAACCTCCTGCCGGCCC 0.607000 22 83 0 0 0.012319 0 0 ENTPD7 57089 broad.mit.edu 37 10 101439504 101439504 + Silent SNP T T C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:101439504T>C ENST00000370489.4 + 5 598 c.420T>C c.(418-420)acT>acC p.T140T NM_020354.3 NP_065087.1 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 7 140 cytoplasmic vesicle membrane|integral to membrane hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1) 18 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) TGGCAGACACTCCAGAACATG 0.443000 28 79 0 0 0.010818 0 0 ACSM2B 348158 broad.mit.edu 37 16 20566652 20566652 + Missense_Mutation SNP T T A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:20566652T>A ENST00000329697.6 - 4 703 c.535A>T c.(535-537)Att>Ttt p.I179F ACSM2B_ENST00000567001.1_Missense_Mutation_p.I179F|ACSM2B_ENST00000565232.1_Missense_Mutation_p.I179F|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I100F|ACSM2B_ENST00000414188.2_Missense_Mutation_p.I179F NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 179 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 AGTAGCTTAATTCTCAGAGAA 0.433000 65 127 0 0 0.014410 0 0 RTTN 25914 broad.mit.edu 37 18 67692000 67692000 + Missense_Mutation SNP A A G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr18:67692000A>G ENST00000255674.6 - 44 6194 c.5908T>C c.(5908-5910)Tct>Cct p.S1970P RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1970 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) AGCTGCAGAGAAATTTGCATC 0.388000 17 39 0 0 0.007413 0 0 FAM131C 348487 broad.mit.edu 37 1 16390059 16390059 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:16390059G>A ENST00000375662.4 - 2 278 c.95C>T c.(94-96)tCg>tTg p.S32L FAM131C_ENST00000494078.1_Intron NM_182623.2 NP_872429.2 Q96AQ9 F131C_HUMAN family with sequence similarity 131, member C 32 large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) AGTGCGGCCCGAGGGCAGATC 0.617000 21 58 0 0 0.012319 0 0 SSR2 6746 broad.mit.edu 37 1 155984846 155984846 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:155984846G>A ENST00000295702.4 - 4 340 c.269C>T c.(268-270)tCc>tTc p.S90F SSR2_ENST00000496742.1_Intron|SSR2_ENST00000480567.1_Missense_Mutation_p.S90F|SSR2_ENST00000529008.1_Intron NM_003145.3 NP_003136.1 P43308 SSRB_HUMAN signal sequence receptor, beta (translocon-associated protein beta) 90 cotranslational protein targeting to membrane endoplasmic reticulum membrane|integral to membrane signal sequence binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1) 10 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) CACAGTGTGGGAGACATTGCT 0.498000 16 24 0 0 0.033300 0 0 NOTCH3 4854 broad.mit.edu 37 19 15281344 15281344 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:15281344C>T ENST00000263388.2 - 27 4987 c.4912G>A c.(4912-4914)Gaa>Aaa p.E1638K NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1638 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) ACGCTGGGTTCTGGAGGCTCC 0.701000 5 16 0 0 0.021553 0 0 ARAP1 116985 broad.mit.edu 37 11 72408489 72408489 + Silent SNP A A G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:72408489A>G ENST00000359373.5 - 21 3683 c.2832T>C c.(2830-2832)ggT>ggC p.G944G ARAP1_ENST00000426523.1_Silent_p.G699G|ARAP1_ENST00000429686.1_Silent_p.G638G|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Silent_p.G699G|ARAP1_ENST00000393609.3_Silent_p.G944G|ARAP1_ENST00000393605.3_Silent_p.G704G|ARAP1_ENST00000455638.2_Silent_p.G944G Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 944 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CCCCCAGCCAACCCATGAAGT 0.642000 122 154 0 0 0.014410 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249119065 249119065 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:249119065C>T ENST00000366472.5 - 2 1299 c.70G>A c.(70-72)Gag>Aag p.E24K SH3BP5L_ENST00000475978.1_5'UTR NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 24 endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) ACTTCATCCTCTACAACTTCA 0.612000 44 121 0 0 0.013114 0 0 PCDH15 65217 broad.mit.edu 37 10 55780154 55780154 + Missense_Mutation SNP G G T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:55780154G>T ENST00000373965.2 - 21 2964 c.2570C>A c.(2569-2571)gCa>gAa p.A857E PCDH15_ENST00000395445.1_Missense_Mutation_p.A857E|PCDH15_ENST00000395430.1_Missense_Mutation_p.A850E|PCDH15_ENST00000320301.6_Missense_Mutation_p.A850E|PCDH15_ENST00000395432.2_Missense_Mutation_p.A813E|PCDH15_ENST00000437009.1_Missense_Mutation_p.A779E|PCDH15_ENST00000395433.1_Missense_Mutation_p.A828E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A850E|PCDH15_ENST00000395438.1_Missense_Mutation_p.A850E|PCDH15_ENST00000373955.1_Missense_Mutation_p.A850E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A461E|PCDH15_ENST00000414778.1_Missense_Mutation_p.A855E|PCDH15_ENST00000373957.3_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 850 Cadherin 8. 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 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) AGACACATTTGCTCCAAGGTC 0.388000 HNSCC(58;0.16) 17 122 0.00400662 0.00407285 0.028581 1 0 NALCN 259232 broad.mit.edu 37 13 101717761 101717761 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:101717761G>A ENST00000251127.6 - 40 4680 c.4599C>T c.(4597-4599)gtC>gtT p.V1533V NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1533 integral to membrane sodium channel activity|voltage-gated ion channel activity 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) TGTACCTCAGGACATCATGGA 0.542000 32 96 0 0 0.017118 0 0 DSG1 1828 broad.mit.edu 37 18 28934899 28934899 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr18:28934899C>T ENST00000257192.4 + 15 2952 c.2740C>T c.(2740-2742)Cct>Tct p.P914S RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.P273S|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 914 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TATCCATCATCCTAGAGAGTC 0.468000 61 123 0 0 0.014410 0 0 OR1M1 125963 broad.mit.edu 37 19 9204508 9204508 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:9204508G>A ENST00000429566.3 + 1 654 c.588G>A c.(586-588)agG>agA p.R196R NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CTGTGAATAGGATCTTCATCC 0.567000 44 84 0 0 0.010771 0 0 FREM2 341640 broad.mit.edu 37 13 39264487 39264487 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:39264487G>A ENST00000280481.7 + 1 3222 c.3006G>A c.(3004-3006)gaG>gaA p.E1002E NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1002 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TTCCAGCAGAGCAGTTTACTC 0.453000 46 57 0 0 0.014410 0 0 PLA2R1 22925 broad.mit.edu 37 2 160843733 160843733 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:160843733C>T ENST00000283243.7 - 12 2177 c.1971G>A c.(1969-1971)gaG>gaA p.E657E PLA2R1_ENST00000392771.1_Silent_p.E657E NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 657 endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding 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 AGGGCCATCTCTCTTCATACT 0.493000 24 35 0 0 0.018920 0 0 NPNT 255743 broad.mit.edu 37 4 106859538 106859538 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:106859538C>T ENST00000379987.2 + 5 682 c.466C>T c.(466-468)Cct>Tct p.P156S NPNT_ENST00000453617.2_Missense_Mutation_p.P173S|NPNT_ENST00000514622.1_Missense_Mutation_p.P156S|NPNT_ENST00000506666.1_Missense_Mutation_p.P186S|NPNT_ENST00000427316.2_Missense_Mutation_p.P186S|NPNT_ENST00000305572.8_Missense_Mutation_p.P156S NM_001033047.2 NP_001028219.1 Q6UXI9 NPNT_HUMAN nephronectin 156 EGF-like 3. cell differentiation membrane calcium ion binding 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) GTGCCCATCCCCTGGCCTGCA 0.522000 29 30 0 0 0.037714 0 0 ZFHX3 463 broad.mit.edu 37 16 72991912 72991912 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:72991912G>A ENST00000268489.5 - 2 2805 c.2133C>T c.(2131-2133)ccC>ccT p.P711P ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 711 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) GTGCCAGCCGGGGGTGGGGCT 0.582000 37 95 0 0 0.021022 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51041860 51041860 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:51041860C>T ENST00000329492.3 + 3 497 c.380C>T c.(379-381)tCc>tTc p.S127F MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000399912.1_5'UTR|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.S127F|MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.S100F NM_012324.3 NP_036456.1 Q13387 JIP2_HUMAN mitogen-activated protein kinase 8 interacting protein 2 127 JNK-binding domain (JBD). behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTTATCCCCTCCCCTTCCGTG 0.697000 9 4 0 0 0.006214 0 0 WSCD2 9671 broad.mit.edu 37 12 108626526 108626526 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:108626526G>A ENST00000332082.4 + 8 1816 c.998G>A c.(997-999)aGa>aAa p.R333K WSCD2_ENST00000547525.1_Missense_Mutation_p.R333K|WSCD2_ENST00000549903.1_Missense_Mutation_p.R333K|WSCD2_ENST00000261400.3_Missense_Mutation_p.R333K Q2TBF2 WSCD2_HUMAN WSC domain containing 2 333 integral to membrane breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 57 TGCATGGACAGAAGGTTCCTG 0.582000 13 37 0 0 0.020292 0 0 ZNF79 7633 broad.mit.edu 37 9 130206806 130206806 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:130206806C>T ENST00000342483.5 + 5 1233 c.827C>T c.(826-828)cCc>cTc p.P276L ZNF79_ENST00000543471.1_Missense_Mutation_p.P252L NM_007135.2 NP_009066.2 Q15937 ZNF79_HUMAN zinc finger protein 79 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 GGAGAGAAGCCCTACAGATGC 0.532000 28 72 0 0 0.037714 0 0 SLC18A1 6570 broad.mit.edu 37 8 20004874 20004874 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:20004874C>T ENST00000440926.1 - 16 1829 c.1359G>A c.(1357-1359)aaG>aaA p.K453K SLC18A1_ENST00000519026.1_Silent_p.K421K|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Silent_p.K421K|SLC18A1_ENST00000276373.5_Silent_p.K453K NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 453 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) AACCGATGGCCTTTACAATGG 0.537000 13 18 0 0 0.028581 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307590 46307590 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:46307590C>T ENST00000221538.3 - 3 1715 c.1573G>A c.(1573-1575)Gac>Aac p.D525N RSPH6A_ENST00000600188.1_Missense_Mutation_p.D261N|RSPH6A_ENST00000597055.1_Missense_Mutation_p.D525N NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 525 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 CCCTCGAAGTCCGGGTTCTCC 0.657000 24 41 0 0 0.018920 0 0 TTN 7273 broad.mit.edu 37 2 179568880 179568880 + Missense_Mutation SNP T T A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:179568880T>A ENST00000589042.1 - 106 30441 c.30217A>T c.(30217-30219)Atc>Ttc p.I10073F TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I9756F|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I8829F|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9756 Glu-rich. 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) GCACCTTCGATTCTGAGTTCT 0.473000 13 143 0 0 0.028581 0 0 PAX3 5077 broad.mit.edu 37 2 223161826 223161826 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:223161826G>A ENST00000350526.4 - 2 328 c.192C>T c.(190-192)caC>caT p.H64H PAX3_ENST00000258387.5_Silent_p.H64H|PAX3_ENST00000409828.3_Silent_p.H64H|PAX3_ENST00000336840.6_Silent_p.H64H|PAX3_ENST00000392070.2_Silent_p.H64H|PAX3_ENST00000392069.2_Silent_p.H64H|PAX3_ENST00000409551.3_Silent_p.H64H|PAX3_ENST00000344493.4_Silent_p.H64H NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 64 Paired. Missing (in WS1). apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGATGCCGTGGTGGGCCATCT 0.657000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 5 14 0 0 0.021553 0 0 TBX4 9496 broad.mit.edu 37 17 59557575 59557575 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:59557575G>A ENST00000393853.4 + 8 1079 c.916G>A c.(916-918)Gag>Aag p.E306K TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Missense_Mutation_p.E306K P57082 TBX4_HUMAN T-box 4 306 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 CTACCAGCACGAGAACGGGGC 0.637000 31 86 0 0 0.012213 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33091980 33091980 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:33091980G>A ENST00000267068.3 - 6 1875 c.1711C>T c.(1711-1713)Ctt>Ttt p.L571F N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Intron NM_014887.2 NP_055702.1 Q92802 N42L2_HUMAN NEDD4 binding protein 2-like 2 571 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) TGTGAGCCAAGAGAGCCTCCC 0.413000 16 21 0 0 0.008871 0 0 RHOH 399 broad.mit.edu 37 4 40245489 40245489 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:40245489G>A ENST00000381799.4 + 3 1207 c.483G>A c.(481-483)caG>caA p.Q161Q RHOH_ENST00000505618.1_Silent_p.Q161Q NM_001278363.1|NM_001278365.1|NM_004310.3 NP_001265292.1|NP_001265294.1|NP_004301.1 Q15669 RHOH_HUMAN ras homolog family member H 161 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 GAGTACAGCAGGTGTTTGAGT 0.557000 11 12 0 0 0.013537 0 0 GFRAL 389400 broad.mit.edu 37 6 55263984 55263984 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:55263984C>T ENST00000340465.2 + 7 1045 c.959C>T c.(958-960)cCa>cTa p.P320L NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 320 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TCAGATTATCCAACCCTGTCT 0.294000 3 23 0 0 0.009096 0 0 TGM3 7053 broad.mit.edu 37 20 2315889 2315889 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:2315889C>T ENST00000381458.5 + 11 1833 c.1770C>T c.(1768-1770)atC>atT p.I590I NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 590 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) AGCGGGACATCATCCTGGACA 0.602000 22 59 0 0 0.016522 0 0 CHAT 1103 broad.mit.edu 37 10 50856580 50856580 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:50856580G>A ENST00000395562.2 + 10 1532 c.1063G>A c.(1063-1065)Ggt>Agt p.G355S CHAT_ENST00000455728.2_Missense_Mutation_p.G319S|CHAT_ENST00000351556.3_Missense_Mutation_p.G319S|CHAT_ENST00000395559.2_Missense_Mutation_p.G319S|CHAT_ENST00000339797.1_Missense_Mutation_p.G319S|CHAT_ENST00000337653.2_Missense_Mutation_p.G437S NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 437 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CGGCACCTGCGGTGTGGTGTG 0.602000 9 25 0 0 0.006214 0 0 RABL6 55684 broad.mit.edu 37 9 139733722 139733722 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:139733722G>A ENST00000371675.3 + 12 2082 c.1197G>A c.(1195-1197)agG>agA p.R399R RABL6_ENST00000432842.2_Intron|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_Silent_p.R514R|RABL6_ENST00000371663.4_Silent_p.R515R RAB, member RAS oncogene family-like 6 CTCCCACGAGGACCGCAGCAC 0.657000 5 13 0 0 0.014758 0 0 CACNA1E 777 broad.mit.edu 37 1 181702639 181702639 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:181702639C>T ENST00000526775.1 + 20 3123 c.2958C>T c.(2956-2958)ccC>ccT p.P986P CACNA1E_ENST00000367567.4_Silent_p.P612P|CACNA1E_ENST00000358338.5_Silent_p.P937P|CACNA1E_ENST00000367573.2_Silent_p.P1005P|CACNA1E_ENST00000357570.5_Silent_p.P956P|CACNA1E_ENST00000367570.1_Silent_p.P1005P|CACNA1E_ENST00000360108.3_Silent_p.P986P NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1005 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity 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 CTGACACCCCCCTAGTCCTGC 0.622000 14 40 0 0 0.024245 0 0 ADAM23 8745 broad.mit.edu 37 2 207482325 207482325 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:207482325G>A ENST00000264377.3 + 26 2801 c.2473G>A c.(2473-2475)Gat>Aat p.D825N ADAM23_ENST00000374415.3_Missense_Mutation_p.D825N|ADAM23_ENST00000374416.1_Silent_p.S794S NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 825 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GAGAAGGTTCGATCCTACTCA 0.473000 13 19 0 0 0.020292 0 0 CCNA1 8900 broad.mit.edu 37 13 37006837 37006837 + Missense_Mutation SNP G G A rs113565588 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:37006837G>A ENST00000418263.1 + 1 429 c.79G>A c.(79-81)Gga>Aga p.G27R CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000463403.1_Intron|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000255465.4_Missense_Mutation_p.G27R NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 27 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) CAGCTGGGAAGGACCGGGGCT 0.542000 5 14 0 0 0.014758 0 0 CDK13 8621 broad.mit.edu 37 7 40085609 40085609 + Missense_Mutation SNP T T A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:40085609T>A ENST00000181839.4 + 6 3133 c.2528T>A c.(2527-2529)aTc>aAc p.I843N CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.I843N NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 843 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 TGTTCCAATATCCTTCTAAAT 0.328000 19 108 0 0 0.010504 0 0 TEAD2 8463 broad.mit.edu 37 19 49846519 49846519 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:49846519G>A ENST00000377214.4 - 9 1417 c.1055C>T c.(1054-1056)tCt>tTt p.S352F TEAD2_ENST00000601519.1_Missense_Mutation_p.S352F|TEAD2_ENST00000311227.2_Missense_Mutation_p.S349F|TEAD2_ENST00000539846.1_Missense_Mutation_p.S221F|TEAD2_ENST00000598810.1_Missense_Mutation_p.S353F|TEAD2_ENST00000593945.1_Missense_Mutation_p.S353F Q15562 TEAD2_HUMAN TEA domain family member 2 349 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 29 all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467) CTTGCCAAAAGAGCAGACCTT 0.597000 25 45 0 0 0.016522 0 0 COQ5 84274 broad.mit.edu 37 12 120942760 120942760 + Silent SNP C C A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:120942760C>A ENST00000288532.6 - 5 748 c.708G>T c.(706-708)ctG>ctT p.L236L COQ5_ENST00000445328.2_Silent_p.L162L NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 236 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTCCTGGTTTCAGCACCCGAT 0.473000 21 60 1.42536e-11 1.45614e-11 0.024334 1 0 MMP26 56547 broad.mit.edu 37 11 5010899 5010899 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:5010899C>T ENST00000380390.1 + 3 337 c.121C>T c.(121-123)Ctg>Ttg p.L41L MMP26_ENST00000300762.1_Silent_p.L41L|MMP26_ENST00000477339.1_3'UTR Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 41 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) TCAATTTTTCCTGACCAAGAA 0.463000 9 11 0 0 0.008291 0 0 NMD3 51068 broad.mit.edu 37 3 160967344 160967344 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:160967344G>A ENST00000460469.1 + 13 1761 c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K NMD3_ENST00000351193.2_Missense_Mutation_p.E436K|NMD3_ENST00000472947.1_Missense_Mutation_p.E436K Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 436 Necessary for the nuclear export of the 60S ribosomal subunit. protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TACAGATGATGAAAGGTCTCG 0.343000 3 13 0 0 0.004672 0 0 CYP2E1 1571 broad.mit.edu 37 10 135345634 135345634 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:135345634C>T ENST00000463117.2 + 6 766 c.494C>T c.(493-495)cCt>cTt p.P165L CYP2E1_ENST00000480558.1_3'UTR|CYP2E1_ENST00000252945.3_Missense_Mutation_p.P165L|SPRN_ENST00000541506.1_Intron P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 165 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) GTAGGCCAGCCTTTCGACCCC 0.557000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 25 71 0 0 0.034045 0 0 BRCA2 675 broad.mit.edu 37 13 32918773 32918773 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:32918773C>T ENST00000544455.1 + 12 7147 c.6920C>T c.(6919-6921)tCa>tTa p.S2307L BRCA2_ENST00000380152.3_Missense_Mutation_p.S2307L NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2307 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTAAAGGCTTCAAAAAGCACT 0.308000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 9 16 0 0 0.006214 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52800411 52800411 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:52800411G>A ENST00000287727.3 + 15 3813 c.3641G>A c.(3640-3642)gGa>gAa p.G1214E ZFYVE9_ENST00000357206.2_Missense_Mutation_p.G1155E|ZFYVE9_ENST00000469134.1_3'UTR|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.G1214E NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 1214 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 TCCTCTTCTGGATACCTTGCC 0.403000 20 66 0 0 0.016522 0 0 ZNF786 136051 broad.mit.edu 37 7 148768588 148768588 + Missense_Mutation SNP A A T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:148768588A>T ENST00000316286.9 - 3 1290 c.1018T>A c.(1018-1020)Tcc>Acc p.S340T ZNF786_ENST00000451334.3_Missense_Mutation_p.S389T|ZNF786_ENST00000491431.1_Missense_Mutation_p.S426T Q8N393 ZN786_HUMAN zinc finger protein 786 426 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TTCCTGCAGGAGAACGGTCTC 0.617000 8 43 0 0 0.004482 0 0 MFSD4 148808 broad.mit.edu 37 1 205553164 205553164 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:205553164C>T ENST00000367147.4 + 4 865 c.772C>T c.(772-774)Ctg>Ttg p.L258L MFSD4_ENST00000536357.1_Silent_p.L171L|MFSD4_ENST00000539267.1_Silent_p.L258L NM_181644.4 NP_857595.3 Q8N468 MFSD4_HUMAN major facilitator superfamily domain containing 4 258 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GCCCCTGCTTCTGTCTGCTGA 0.602000 26 48 0 0 0.021523 0 0 PRTG 283659 broad.mit.edu 37 15 55930812 55930812 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:55930812C>T ENST00000389286.4 - 14 2434 c.2387G>A c.(2386-2388)cGa>cAa p.R796Q NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 796 Fibronectin type-III 4. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) CACATGTAATCGAACGGCAAA 0.393000 13 22 0 0 0.024245 0 0 POLR3K 51728 broad.mit.edu 37 16 101619 101619 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:101619C>T ENST00000293860.5 - 2 179 c.138G>A c.(136-138)ctG>ctA p.L46L NM_016310.3 NP_057394.2 Q9Y2Y1 RPC10_HUMAN polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa 46 innate immune response|response to virus|transcription from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|zinc ion binding central_nervous_system(1)|large_intestine(1)|skin(1) 3 all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239) CCACTTCTTTCAGTTTTGGGT 0.438000 20 39 0 0 0.014323 0 0 C1orf173 127254 broad.mit.edu 37 1 75038358 75038358 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:75038358G>A ENST00000326665.5 - 14 3254 c.3036C>T c.(3034-3036)agC>agT p.S1012S C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1012 Glu-rich. 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 CTTCCTCAGGGCTGCCCTCCG 0.517000 22 29 0 0 0.010504 0 0 FMNL2 114793 broad.mit.edu 37 2 153481964 153481964 + Missense_Mutation SNP A A G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:153481964A>G ENST00000288670.9 + 16 2217 c.1850A>G c.(1849-1851)aAg>aGg p.K617R FMNL2_ENST00000497192.1_3'UTR|FMNL2_ENST00000475377.2_5'UTR NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 617 FH2. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 GTGAAAATTAAGAAGCCAATC 0.418000 12 24 0 0 0.010729 0 0 CMTR2 55783 broad.mit.edu 37 16 71319448 71319448 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:71319448G>A ENST00000338099.5 - 3 712 c.376C>T c.(376-378)Cca>Tca p.P126S FTSJD1_ENST00000434935.2_Missense_Mutation_p.P126S Q8IYT2 FTSJ1_HUMAN 126 integral to membrane methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GGAATAAGTGGAAAGCTGCAC 0.378000 19 47 0 0 0.010504 0 0 POTEF 728378 broad.mit.edu 37 2 130832617 130832617 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:130832617G>A ENST00000357462.5 - 15 2521 c.2428C>T c.(2428-2430)Ctg>Ttg p.L810L POTEF_ENST00000409914.2_Silent_p.L810L A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 810 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TTAGGGTTCAGGGTGGCCTCG 0.587000 64 143 0 0 0.014410 0 0 LINGO4 339398 broad.mit.edu 37 1 151773710 151773710 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:151773710C>T ENST00000368820.3 - 2 2408 c.1471G>A c.(1471-1473)Ggg>Agg p.G491R NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 491 Ig-like C2-type. integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GAGTCATTCCCAGCGACATTG 0.592000 66 165 0 0 0.014410 0 0 ARIH2 10425 broad.mit.edu 37 3 49002404 49002404 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:49002404C>T ENST00000356401.4 + 5 715 c.376C>T c.(376-378)Cca>Tca p.P126S ARIH2_ENST00000449376.1_Missense_Mutation_p.P126S|ARIH2_ENST00000490095.1_3'UTR NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 126 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.P126A(1) cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) TCAGCCTAATCCATCAAAACA 0.398000 9 42 0 0 0.006214 0 0 ARAP2 116984 broad.mit.edu 37 4 36122870 36122870 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:36122870C>T ENST00000303965.4 - 23 4314 c.3825G>A c.(3823-3825)acG>acA p.T1275T NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1275 Rho-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding 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 TTTGTCCCTTCGTTTGAAACA 0.338000 5 21 0 0 0.014758 0 0 ZNF12 7559 broad.mit.edu 37 7 6731942 6731942 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:6731942G>A ENST00000405858.1 - 5 1172 c.631C>T c.(631-633)Cgt>Tgt p.R211C AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.R173C|ZNF12_ENST00000404360.1_Missense_Mutation_p.R137C NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 211 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TCCAAAATACGAATTTTCTGA 0.328000 10 32 0 0 0.008291 0 0 NRXN1 9378 broad.mit.edu 37 2 50280446 50280446 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:50280446C>T ENST00000404971.1 - 22 5550 c.4211G>A c.(4210-4212)aGa>aAa p.R1404K NRXN1_ENST00000342183.5_Missense_Mutation_p.R299K|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1364K|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1356K|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1334K|NRXN1_ENST00000401710.1_Missense_Mutation_p.R352K|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1334K|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1356K NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1334 adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTTTCCTCTTCTGGCTGTGCT 0.453000 37 88 0 0 0.027894 0 0 DGKI 9162 broad.mit.edu 37 7 137282634 137282634 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:137282634C>T ENST00000453654.1 - 12 909 c.370G>A c.(370-372)Gta>Ata p.V124I DGKI_ENST00000446122.1_Missense_Mutation_p.V424I|DGKI_ENST00000424189.2_Missense_Mutation_p.V424I|DGKI_ENST00000288490.5_Missense_Mutation_p.V424I O75912 DGKI_HUMAN diacylglycerol kinase, iota 424 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 AGATTTGGTACTTTCCTATAC 0.418000 8 37 0 0 0.003080 0 0 DYSF 8291 broad.mit.edu 37 2 71742867 71742867 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:71742867C>T ENST00000258104.3 + 7 1055 c.778C>T c.(778-780)Cca>Tca p.P260S DYSF_ENST00000410020.3_Missense_Mutation_p.P292S|DYSF_ENST00000409582.3_Missense_Mutation_p.P291S|DYSF_ENST00000410041.1_Missense_Mutation_p.P292S|DYSF_ENST00000409366.1_Missense_Mutation_p.P261S|DYSF_ENST00000394120.2_Missense_Mutation_p.P261S|DYSF_ENST00000409744.1_Missense_Mutation_p.P261S|DYSF_ENST00000429174.2_Missense_Mutation_p.P260S|DYSF_ENST00000409762.1_Missense_Mutation_p.P291S|DYSF_ENST00000413539.2_Missense_Mutation_p.P291S|DYSF_ENST00000409651.1_Missense_Mutation_p.P292S NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 260 C2 2. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding 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 GGGAAACAGCCCACTCTTCAA 0.597000 24 64 0 0 0.014323 0 0 ICOSLG 23308 broad.mit.edu 37 21 45655373 45655373 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:45655373G>A ENST00000407780.3 - 4 606 c.479C>T c.(478-480)tCc>tTc p.S160F ICOSLG_ENST00000344330.4_Missense_Mutation_p.S160F|ICOSLG_ENST00000400379.3_Missense_Mutation_p.S160F|ICOSLG_ENST00000400377.3_Missense_Mutation_p.S43F O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand 160 Ig-like C2-type. B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) GCCGTTTATGGATGTACACGT 0.567000 41 85 0 0 0.033182 0 0 SHANK2 22941 broad.mit.edu 37 11 70332254 70332254 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:70332254C>T ENST00000338508.4 - 32 4146 c.4147G>A c.(4147-4149)Gaa>Aaa p.E1383K SHANK2_ENST00000423696.2_Missense_Mutation_p.E1003K|SHANK2_ENST00000409161.1_Missense_Mutation_p.E786K|SHANK2_ENST00000449833.2_Missense_Mutation_p.E787K Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1003 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ACCGCCTCTTCCATGGAGCCC 0.587000 20 22 0 0 0.010504 0 0 PCDH15 65217 broad.mit.edu 37 10 55912989 55912989 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:55912989G>A ENST00000373965.2 - 15 2070 c.1676C>T c.(1675-1677)gCt>gTt p.A559V PCDH15_ENST00000395445.1_Missense_Mutation_p.A559V|PCDH15_ENST00000395430.1_Missense_Mutation_p.A552V|PCDH15_ENST00000320301.6_Missense_Mutation_p.A552V|PCDH15_ENST00000395432.2_Missense_Mutation_p.A515V|PCDH15_ENST00000437009.1_Missense_Mutation_p.A552V|PCDH15_ENST00000395433.1_Missense_Mutation_p.A530V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.A552V|PCDH15_ENST00000395438.1_Missense_Mutation_p.A552V|PCDH15_ENST00000373955.1_Missense_Mutation_p.A552V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.A552V|PCDH15_ENST00000409834.1_Missense_Mutation_p.A163V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A557V|PCDH15_ENST00000373957.3_Missense_Mutation_p.A530V NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 552 Cadherin 5. 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.A557D(2)|p.A552D(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) GTCTCCCTGAGCCCCAACAAG 0.488000 HNSCC(58;0.16) 25 57 0 0 0.024334 0 0 ITGB4 3691 broad.mit.edu 37 17 73739906 73739906 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:73739906C>T ENST00000200181.3 + 26 3262 c.3075C>T c.(3073-3075)tcC>tcT p.S1025S ITGB4_ENST00000579662.1_Silent_p.S1025S|ITGB4_ENST00000339591.3_Silent_p.S1025S|ITGB4_ENST00000450894.3_Silent_p.S1025S|ITGB4_ENST00000449880.2_Silent_p.S1025S NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1025 Calx-beta. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCAGGTCTCCTACCGCACAC 0.697000 5 11 0 0 0.014758 0 0 HS1BP3 64342 broad.mit.edu 37 2 20838187 20838187 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:20838187G>A ENST00000402541.1 - 4 646 c.632C>T c.(631-633)tCc>tTc p.S211F HS1BP3_ENST00000304031.3_Intron Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 0 cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCAACAACAGGAGACCAACCG 0.602000 10 20 0 0 0.008291 0 0 C10orf71 118461 broad.mit.edu 37 10 50532253 50532253 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:50532253G>A ENST00000374144.3 + 3 1951 c.1663G>A c.(1663-1665)Gag>Aag p.E555K C10orf71_ENST00000323868.4_Missense_Mutation_p.E555K Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 555 endometrium(1) 1 CCCTCCAAATGAGCTTTCTAA 0.522000 14 38 0 0 0.024245 0 0 GATA2 2624 broad.mit.edu 37 3 128199922 128199922 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:128199922G>A ENST00000341105.2 - 6 1714 c.1383C>T c.(1381-1383)ccC>ccT p.P461P GATA2_ENST00000430265.2_Silent_p.P447P|GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Silent_p.P461P NM_032638.4 NP_116027.2 P23769 GATA2_HUMAN GATA binding protein 2 461 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1) 79 GBM - Glioblastoma multiforme(114;0.173) GGCTGGAGGAGGGGTGGATGG 0.682000 Mis AML(CML blast transformation) 18 33 0 0 0.033300 0 0 NAALAD2 10003 broad.mit.edu 37 11 89885592 89885592 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:89885592G>A ENST00000534061.1 + 6 966 c.736G>A c.(736-738)Gga>Aga p.G246R NAALAD2_ENST00000525171.1_Missense_Mutation_p.G246R|NAALAD2_ENST00000375944.3_Missense_Mutation_p.G246R|NAALAD2_ENST00000321955.4_Missense_Mutation_p.G246R NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 246 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AGCCCAGAGAGGAAATGTGTT 0.458000 22 28 0 0 0.016522 0 0 MUC17 140453 broad.mit.edu 37 7 100696355 100696355 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:100696355G>A ENST00000306151.4 + 10 13256 c.13192G>A c.(13192-13194)Ggg>Agg p.G4398R NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4398 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity 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) CGTGGGGGCAGGGGTCGTGCT 0.592000 35 34 0 0 0.019004 0 0 C1orf109 54955 broad.mit.edu 37 1 38155520 38155520 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:38155520C>T ENST00000358011.4 - 2 222 c.33G>A c.(31-33)caG>caA p.Q11Q C1orf109_ENST00000494120.1_5'UTR NM_017850.1 NP_060320.1 Q9NX04 CA109_HUMAN chromosome 1 open reading frame 109 11 lung(2)|prostate(2) 4 Myeloproliferative disorder(586;0.0393) TCAGCGCCTCCTGCACGGCAA 0.597000 5 42 0 0 0.021553 0 0 RABL6 55684 broad.mit.edu 37 9 139733721 139733721 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:139733721G>A ENST00000371675.3 + 12 2081 c.1196G>A c.(1195-1197)aGg>aAg p.R399K RABL6_ENST00000432842.2_Intron|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_Missense_Mutation_p.R514K|RABL6_ENST00000371663.4_Missense_Mutation_p.R515K RAB, member RAS oncogene family-like 6 GCTCCCACGAGGACCGCAGCA 0.657000 5 13 0 0 0.014758 0 0 TP63 8626 broad.mit.edu 37 3 189587118 189587118 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:189587118C>T ENST00000264731.3 + 9 1224 c.1135C>T c.(1135-1137)Cgt>Tgt p.R379C TP63_ENST00000392460.3_Missense_Mutation_p.R379C|TP63_ENST00000320472.5_Missense_Mutation_p.R379C|TP63_ENST00000392463.2_Missense_Mutation_p.R285C|TP63_ENST00000437221.1_Missense_Mutation_p.R285C|TP63_ENST00000392461.3_Missense_Mutation_p.R285C|TP63_ENST00000449992.1_Missense_Mutation_p.R200C|TP63_ENST00000354600.5_Missense_Mutation_p.R285C|TP63_ENST00000418709.2_Missense_Mutation_p.R379C|TP63_ENST00000456148.1_Missense_Mutation_p.R281C|TP63_ENST00000382063.4_Missense_Mutation_p.R294C|TP63_ENST00000440651.2_Missense_Mutation_p.R375C NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 379 Interaction with HIPK2. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.R379C(1) breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) ACCAGCGTTTCGTCAGAACAC 0.363000 HNSCC(45;0.13) 13 29 0 0 0.024245 0 0 NPAP1 23742 broad.mit.edu 37 15 24922173 24922173 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:24922173G>A ENST00000329468.2 + 1 1633 c.1159G>A c.(1159-1161)Gag>Aag p.E387K NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GGATAAAACAGAGACCATGAC 0.527000 8 35 0 0 0.003080 0 0 BMP5 653 broad.mit.edu 37 6 55639005 55639005 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:55639005C>T ENST00000370830.3 - 4 1567 c.869G>A c.(868-870)gGa>gAa p.G290E BMP5_ENST00000446683.2_Missense_Mutation_p.G290E NM_021073.2 NP_066551.1 P22003 BMP5_HUMAN bone morphogenetic protein 5 290 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TCCCTGTCTTCCCACAAGACC 0.423000 21 62 0 0 0.012319 0 0 SEPT8 23176 broad.mit.edu 37 5 132101113 132101113 + Missense_Mutation SNP T T G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:132101113T>G ENST00000296873.7 - 2 422 c.139A>C c.(139-141)Atc>Ctc p.I47L SEPT8_ENST00000458488.2_Missense_Mutation_p.I47L|SEPT8_ENST00000378699.2_5'UTR|SEPT8_ENST00000448933.1_5'UTR|SEPT8_ENST00000378719.2_Missense_Mutation_p.I47L|SEPT8_ENST00000378721.4_Missense_Mutation_p.I47L|SEPT8_ENST00000378701.1_Missense_Mutation_p.I47L|SEPT8_ENST00000378706.1_Missense_Mutation_p.I47L NM_001098812.1|NM_015146.1 NP_001092282.1|NP_055961.1 Q92599 SEPT8_HUMAN septin 8 47 cell cycle septin complex GTP binding|protein binding SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ACACAGAGGATGTTGAAGCTG 0.647000 40 77 0 0 0.030466 0 0 NOS2 4843 broad.mit.edu 37 17 26089889 26089889 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:26089889G>A ENST00000313735.6 - 22 2968 c.2735C>T c.(2734-2736)tCc>tTc p.S912F NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 912 FAD-binding FR-type. arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) ATCCCGGGAGGAGCTGATGGA 0.632000 6 10 0 0 0.021553 0 0 PIAS3 10401 broad.mit.edu 37 1 145580316 145580316 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:145580316C>T ENST00000393045.2 + 6 888 c.798C>T c.(796-798)ttC>ttT p.F266F PIAS3_ENST00000369299.3_Silent_p.F257F|PIAS3_ENST00000369298.1_Silent_p.F231F NM_006099.3 NP_006090.2 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 266 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2) 28 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CATCTGAGTTCGGACGGGTGA 0.567000 37 106 0 0 0.021022 0 0 EPB41L1 2036 broad.mit.edu 37 20 34782228 34782228 + Silent SNP G G C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:34782228G>C ENST00000338074.2 + 12 1556 c.1395G>C c.(1393-1395)cgG>cgC p.R465R EPB41L1_ENST00000441639.1_Silent_p.R403R|EPB41L1_ENST00000202028.5_Silent_p.R403R|EPB41L1_ENST00000373946.3_Silent_p.R434R|EPB41L1_ENST00000373941.1_Silent_p.R465R|EPB41L1_ENST00000373950.2_Silent_p.R368R NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 465 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GGGGGCAACGGTCAGAGGCTG 0.602000 7 31 0 0 0.004482 0 0 SLC2A2 6514 broad.mit.edu 37 3 170715716 170715716 + Silent SNP G G A rs148414372 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:170715716G>A ENST00000314251.3 - 11 1630 c.1551C>T c.(1549-1551)ttC>ttT p.F517F SLC2A2_ENST00000382808.4_Silent_p.F398F NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 517 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) TAGCTCCTAGGAATTTCATTT 0.398000 22 85 0 0 0.016522 0 0 NUDT4 11163 broad.mit.edu 37 12 93793086 93793086 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:93793086C>T ENST00000337179.5 + 5 917 c.477C>T c.(475-477)tcC>tcT p.S159S NUDT4_ENST00000549992.1_Silent_p.S106S|NUDT4_ENST00000547014.1_Silent_p.S107S|NUDT4_ENST00000548662.1_Silent_p.S106S|NUDT4_ENST00000415493.2_Silent_p.S158S NM_199040.2 NP_950241.1 Q9NZJ9 NUDT4_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 4 158 calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding endometrium(2)|kidney(1)|lung(2) 5 CAGTCCCTTCCCTTCCGGATA 0.473000 22 227 0 0 0.024334 0 0 PLCL1 5334 broad.mit.edu 37 2 198948543 198948543 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:198948543C>T ENST00000428675.1 + 2 700 c.302C>T c.(301-303)tCg>tTg p.S101L PLCL1_ENST00000437704.2_Missense_Mutation_p.S3L NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 101 Interaction with PPP1C. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity 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) AGCATGCCATCGGAAAAGAAA 0.383000 13 18 0 0 0.024245 0 0 BCR 613 broad.mit.edu 37 22 23653911 23653911 + Silent SNP C C T rs141798488 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:23653911C>T ENST00000305877.8 + 19 3961 c.3210C>T c.(3208-3210)atC>atT p.I1070I BCR_ENST00000359540.3_Silent_p.I1026I|BCR_ENST00000436990.2_3'UTR NM_004327.3 NP_004318.3 P11274 BCR_HUMAN breakpoint cluster region 1070 Rho-GAP. regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 TGCCCTACATCGTGCGCCAGT 0.617000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 10 15 0 0 0.008291 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 40 0 0 0.014758 0 0 PAPD4 167153 broad.mit.edu 37 5 78964810 78964810 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:78964810C>T ENST00000453514.1 + 12 1860 c.1167C>T c.(1165-1167)gaC>gaT p.D389D PAPD4_ENST00000296783.3_Silent_p.D389D|PAPD4_ENST00000428308.2_Silent_p.D389D|PAPD4_ENST00000504233.1_Silent_p.D346D|PAPD4_ENST00000423041.2_Silent_p.D385D NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 389 PAP-associated. histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) ACCTTGGGGACCTCTTACTGG 0.373000 45 76 0 0 0.014410 0 0 CLCN5 1184 broad.mit.edu 37 X 49845367 49845367 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:49845367C>T ENST00000376088.3 + 8 1361 c.720C>T c.(718-720)atC>atT p.I240I CLCN5_ENST00000376108.3_Silent_p.I170I|CLCN5_ENST00000376091.3_Silent_p.I240I|CLCN5_ENST00000307367.2_Silent_p.I170I NM_001127898.1|NM_001127899.1 NP_001121370.1|NP_001121371.1 P51795 CLCN5_HUMAN chloride channel, voltage-sensitive 5 170 excretion apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane antiporter activity|ATP binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1) 30 Ovarian(276;0.236) GCTCTGGAATCCCTGAGGTGA 0.388000 29 12 0 0 0.019004 0 0 FAM71B 153745 broad.mit.edu 37 5 156590534 156590534 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:156590534C>T ENST00000302938.4 - 2 837 c.742G>A c.(742-744)Gct>Act p.A248T NM_130899.2 NP_570969.2 Q8TC56 FA71B_HUMAN family with sequence similarity 71, member B 248 Ala-rich. nucleus NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 Renal(175;0.00212) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GATGGAGAAGCCGCACTAGCC 0.582000 22 161 0 0 0.014323 0 0 ZNF777 27153 broad.mit.edu 37 7 149152452 149152452 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:149152452G>A ENST00000247930.4 - 2 985 c.662C>T c.(661-663)gCc>gTc p.A221V NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) CTCGCAGTCGGCTATCTTCTT 0.612000 88 75 0 0 0.014410 0 0 C7 730 broad.mit.edu 37 5 40958182 40958182 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:40958182G>A ENST00000313164.9 + 11 1667 c.1308G>A c.(1306-1308)gtG>gtA p.V436V NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 436 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GTGCCTCTGTGAAAAAACTAT 0.408000 15 17 0 0 0.024245 0 0 SOX10 6663 broad.mit.edu 37 22 38370098 38370098 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:38370098G>A ENST00000396884.2 - 4 1087 c.805C>T c.(805-807)Cct>Tct p.P269S SOX10_ENST00000360880.2_Missense_Mutation_p.P269S|POLR2F_ENST00000405557.1_Intron|POLR2F_ENST00000407936.1_Intron NM_006941.3 NP_008872.1 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 269 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) TCGATGTGAGGCTTCCCGCCC 0.622000 84 88 0 0 0.014410 0 0 HBD 3045 broad.mit.edu 37 11 5255394 5255394 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:5255394C>T ENST00000380299.3 - 2 356 c.142G>A c.(142-144)Gat>Aat p.D48N HBD_ENST00000292901.3_Missense_Mutation_p.D48N NM_000519.3 NP_000510.1 P02042 HBD_HUMAN hemoglobin, delta 48 D -> V (in Parkville; dbSNP:rs34977235). blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGGACAGATCCCCAAAGGAC 0.522000 31 35 0 0 0.021022 0 0 SH2D3A 10045 broad.mit.edu 37 19 6755166 6755166 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:6755166G>A ENST00000245908.6 - 5 926 c.657C>T c.(655-657)ttC>ttT p.F219F SH2D3A_ENST00000437152.3_Silent_p.F97F|SH2D3A_ENST00000599563.1_5'UTR NM_005490.2 NP_005481.2 Q9BRG2 SH23A_HUMAN SH2 domain containing 3A 219 JNK cascade|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1) 24 CAGGCAGTTCGAAGGAGGGTG 0.657000 88 225 0 0 0.014410 0 0 TNK1 8711 broad.mit.edu 37 17 7292014 7292014 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:7292014G>A ENST00000570896.1 + 12 2213 c.1767G>A c.(1765-1767)aaG>aaA p.K589K TNK1_ENST00000576812.1_Silent_p.K594K|TNK1_ENST00000311668.2_Silent_p.K589K Q13470 TNK1_HUMAN tyrosine kinase, non-receptor, 1 594 protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) TGCAGAGGAAGATTATGGAGG 0.577000 13 28 0 0 0.020292 0 0 SNORD113-6 767566 broad.mit.edu 37 14 101405923 101405923 + RNA SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:101405923G>A ENST00000363345.2 + 0 31 NR_003234.1 TGGGGTTTCTGAAACAACATT 0.363000 10 13 0 0 0.016723 0 0 ZNF672 79894 broad.mit.edu 37 1 249142580 249142580 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:249142580C>T ENST00000306562.3 + 4 1853 c.1107C>T c.(1105-1107)tgC>tgT p.C369C NM_024836.1 NP_079112.1 Q499Z4 ZN672_HUMAN zinc finger protein 672 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1) 5 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CACACAAATGCCCCGAGTGCA 0.637000 5 27 0 0 0.014758 0 0 CUX1 1523 broad.mit.edu 37 7 101877387 101877387 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:101877387C>T ENST00000360264.3 + 22 3542 c.3522C>T c.(3520-3522)gaC>gaT p.D1174D CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Silent_p.D1005D|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Silent_p.D1107D|CUX1_ENST00000292535.7_Silent_p.D1163D|CUX1_ENST00000549414.2_Silent_p.D1141D|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Silent_p.D1061D|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 1163 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 CTGTCTCTGACCTCCTTGCCC 0.557000 50 57 0 0 0.014410 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869684 151869684 + Missense_Mutation SNP G G A rs140660790 byFrequency TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:151869684G>A ENST00000329342.5 + 3 599 c.374G>A c.(373-375)cGa>cAa p.R125Q NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 125 MAGE. protein binding breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) CTCAAGTATCGAGCCAGGGAG 0.532000 46 36 0 0 0.014410 0 0 COPE 11316 broad.mit.edu 37 19 19016389 19016389 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:19016389C>T ENST00000600932.1 - 6 593 c.562G>A c.(562-564)Gcc>Acc p.A188T COPE_ENST00000598969.1_5'UTR|COPE_ENST00000351079.4_Missense_Mutation_p.A114T|COPE_ENST00000349893.4_Missense_Mutation_p.A165T|COPE_ENST00000262812.4_Missense_Mutation_p.A165T O14579 COPE_HUMAN coatomer protein complex, subunit epsilon 165 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol binding|structural molecule activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 11 GCTCACCGGGCGAGGTCCAGG 0.662000 14 36 0 0 0.020292 0 0 CFTR 1080 broad.mit.edu 37 7 117230474 117230474 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:117230474G>A ENST00000003084.6 + 13 1879 c.1747G>A c.(1747-1749)Gaa>Aaa p.E583K CFTR_ENST00000454343.1_Missense_Mutation_p.E522K NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 583 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TGTTTTAACAGAAAAAGAAAT 0.284000 Cystic Fibrosis 22 101 0 0 0.018920 0 0 SLC24A3 57419 broad.mit.edu 37 20 19698203 19698203 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:19698203C>T ENST00000328041.6 + 16 1948 c.1751C>T c.(1750-1752)tCc>tTc p.S584F NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 584 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 CTGATCTACTCCGTAGGCTTG 0.502000 91 204 0 0 0.014410 0 0 TUBA1B 10376 broad.mit.edu 37 12 49521861 49521861 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:49521861C>T ENST00000336023.5 - 4 1330 c.1236G>A c.(1234-1236)ggG>ggA p.G412G RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 412 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 CTTCCTCCATCCCCTCACCCA 0.552000 44 98 0 0 0.014410 0 0 LOC100128164 100128164 broad.mit.edu 37 3 169664560 169664560 + RNA SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:169664560G>A ENST00000483289.2 - 0 2734 RP11-379K17.4_ENST00000487580.1_RNA NR_027622.1 TATAGCTGGAGGGACCTCACT 0.512000 9 13 0 0 0.004482 0 0 NRG1 3084 broad.mit.edu 37 8 32617780 32617780 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:32617780C>T ENST00000338921.4 + 12 1665 c.1148C>T c.(1147-1149)tCc>tTc p.S383F NRG1_ENST00000405005.2_Missense_Mutation_p.S375F|NRG1_ENST00000356819.4_Missense_Mutation_p.S380F|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287842.3_Missense_Mutation_p.S372F|NRG1_ENST00000521670.1_Missense_Mutation_p.S375F|NRG1_ENST00000539990.1_Missense_Mutation_p.S218F|NRG1_ENST00000287845.5_Missense_Mutation_p.S346F|NRG1_ENST00000287840.5_Missense_Mutation_p.S375F|NRG1_ENST00000519301.1_Missense_Mutation_p.S325F|NRG1_ENST00000523079.1_Missense_Mutation_p.S372F Q02297 NRG1_HUMAN neuregulin 1 375 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) GTGATGTCATCCGTAGAAAAC 0.527000 55 73 0 0 0.014410 0 0 LRP1B 53353 broad.mit.edu 37 2 142567968 142567968 + Nonsense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:142567968G>A ENST00000389484.3 - 2 1056 c.85C>T c.(85-87)Cag>Tag p.Q29* LRP1B_ENST00000486364.1_5'UTR NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 29 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) CACAACTGCTGATCTGAAAAT 0.423000 TSP Lung(27;0.18) 12 15 0 0 0.010729 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879284 144879284 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:144879284G>A ENST00000369359.4 - 30 4612 c.4574C>T c.(4573-4575)tCg>tTg p.S1525L PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1525L|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1389L|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1389L|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1345L|PDE4DIP_ENST00000524974.1_5'UTR Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1389 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CAGACTAGACGAATAATCACT 0.517000 T PDGFRB MPD 36 272 0 0 0.019004 0 0 MTSS1 9788 broad.mit.edu 37 8 125570059 125570059 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:125570059C>T ENST00000518547.1 - 11 1566 c.1093G>A c.(1093-1095)Ggt>Agt p.G365S MTSS1_ENST00000354184.4_Intron|MTSS1_ENST00000524090.1_Missense_Mutation_p.G255S|MTSS1_ENST00000431961.2_Intron|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Intron|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000325064.5_Missense_Mutation_p.G369S|MTSS1_ENST00000395508.2_Missense_Mutation_p.G139S NM_014751.4 NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 365 actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) AGGCCTGCACCCGTGGGCCCC 0.522000 3 22 0 0 0.014758 0 0 FMO2 2327 broad.mit.edu 37 1 171173094 171173094 + Missense_Mutation SNP C C T rs145420492 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:171173094C>T ENST00000441535.1 + 6 835 c.718C>T c.(718-720)Cgt>Tgt p.R240C RP1-127D3.4_ENST00000422841.1_RNA|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.R240C|RP1-127D3.4_ENST00000445909.1_RNA NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 240 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding p.R240C(1) endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CACCCGGTTTCGTTCTATGCT 0.488000 16 34 0 0 0.007413 0 0 LEMD2 221496 broad.mit.edu 37 6 33744975 33744975 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:33744975G>A ENST00000293760.5 - 7 1217 c.1198C>T c.(1198-1200)Cgg>Tgg p.R400W LEMD2_ENST00000508327.1_Missense_Mutation_p.R98W|LEMD2_ENST00000502643.1_5'UTR NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 400 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 TTTCGCCACCGATATTTTAGG 0.488000 64 174 0 0 0.014410 0 0 NEK10 152110 broad.mit.edu 37 3 27183064 27183064 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:27183064C>T ENST00000429845.2 - 34 3412 c.3050G>A c.(3049-3051)gGa>gAa p.G1017E NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000295720.6_Missense_Mutation_p.G329E|NEK10_ENST00000383770.3_Missense_Mutation_p.G272E|NEK10_ENST00000383771.4_Missense_Mutation_p.G319E Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 1017 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CACAGCAATTCCTGCTGATGC 0.343000 35 51 0 0 0.017118 0 0 DYTN 391475 broad.mit.edu 37 2 207558009 207558009 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:207558009G>A ENST00000452335.2 - 9 986 c.870C>T c.(868-870)acC>acT p.T290T NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 290 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TGTTTCTGAGGGTCCTGAAGA 0.493000 5 43 0 0 0.014758 0 0 MED12L 116931 broad.mit.edu 37 3 151148112 151148112 + Missense_Mutation SNP C C T rs147600909 by1000genomes TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:151148112C>T ENST00000474524.1 + 42 6367 c.6329C>T c.(6328-6330)aCc>aTc p.T2110I MED12L_ENST00000273432.4_Missense_Mutation_p.T1774I NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 2110 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTGCAGCAGACCCAGCAGCAG 0.542000 21 76 0 0 0.018920 0 0 MYO10 4651 broad.mit.edu 37 5 16701681 16701681 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:16701681G>A ENST00000513610.1 - 25 3277 c.2823C>T c.(2821-2823)ttC>ttT p.F941F MYO10_ENST00000427430.2_Silent_p.F298F|MYO10_ENST00000274203.9_Silent_p.F298F|MYO10_ENST00000505695.1_Silent_p.F280F|MYO10_ENST00000515803.1_Silent_p.F280F NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 941 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 GGGACTCGAGGAACTCCTGGG 0.637000 8 22 0 0 0.008291 0 0 HTR3B 9177 broad.mit.edu 37 11 113803741 113803741 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:113803741G>A ENST00000260191.2 + 6 879 c.622G>A c.(622-624)Gaa>Aaa p.E208K HTR3B_ENST00000537778.1_Missense_Mutation_p.E197K NM_006028.4 NP_006019.1 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic 208 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) CAGTGAGTGGGAACTTCTATC 0.473000 13 23 0 0 0.013537 0 0 PRICKLE1 144165 broad.mit.edu 37 12 42854405 42854405 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:42854405C>T ENST00000455697.1 - 8 1987 c.1702G>A c.(1702-1704)Gag>Aag p.E568K PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E568K|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E568K|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E568K|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E568K NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 568 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) GTTTCCATCTCCTCAAAATTT 0.433000 33 63 0 0 0.013726 0 0 ABCB10 23456 broad.mit.edu 37 1 229676463 229676463 + Nonsense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:229676463G>A ENST00000344517.4 - 5 1135 c.1093C>T c.(1093-1095)Cga>Tga p.R365* NM_012089.2 NP_036221.2 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 10 365 ABC transmembrane type-1. integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2) 31 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) CCAAAAGCTCGAACAGTTCTT 0.423000 27 44 0 0 0.027356 0 0 OR11A1 26531 broad.mit.edu 37 6 29394788 29394788 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:29394788G>A ENST00000377149.1 - 5 1103 c.631C>T c.(631-633)Cct>Tct p.P211S OR11A1_ENST00000377148.1_Missense_Mutation_p.P211S|OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377147.2_Missense_Mutation_p.P211S Q9GZK7 O11A1_HUMAN olfactory receptor, family 11, subfamily A, member 1 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 19 AGTCCAAAAGGAATAGTGAGG 0.507000 13 30 0 0 0.016723 0 0 EHHADH 1962 broad.mit.edu 37 3 184910290 184910290 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:184910290G>A ENST00000231887.3 - 7 1971 c.1896C>T c.(1894-1896)ttC>ttT p.F632F EHHADH_ENST00000456310.1_Silent_p.F536F NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 632 peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) CCAAGATACGGAATGCTTCAT 0.458000 35 67 0 0 0.017118 0 0 MRPS17P9 359760 broad.mit.edu 37 X 118513709 118513709 + RNA SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:118513709G>A ENST00000413240.1 - 0 491 CATGCCAAATGGATTATGGGG 0.458000 14 9 0 0 0.020292 0 0 ERN2 10595 broad.mit.edu 37 16 23716268 23716268 + Nonsense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:23716268G>A ENST00000256797.4 - 8 1102 c.934C>T c.(934-936)Cga>Tga p.R312* ERN2_ENST00000457008.2_Nonsense_Mutation_p.R264* NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 264 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GCAGGCAGTCGGATGTGGCCC 0.677000 36 70 0 0 0.015359 0 0 HCN1 348980 broad.mit.edu 37 5 45645406 45645406 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:45645406C>T ENST00000303230.4 - 2 787 c.730G>A c.(730-732)Gat>Aat p.D244N NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 244 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ACTTCAGAATCCATTCCTTTT 0.353000 3 17 0 0 0.004672 0 0 ERCC6 2074 broad.mit.edu 37 10 50740971 50740971 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:50740971C>T ENST00000355832.5 - 2 118 c.40G>A c.(40-42)Gag>Aag p.E14K PGBD3_ENST00000603152.1_Missense_Mutation_p.E14K|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.E14K|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.E14K NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 14 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CAGTCTTGCTCCTGAGTTTGA 0.408000 Direct reversal of damage;Nucleotide excision repair (NER) 12 36 0 0 0.010729 0 0 ANKRD52 283373 broad.mit.edu 37 12 56639219 56639219 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:56639219G>A ENST00000267116.7 - 21 2467 c.2346C>T c.(2344-2346)ccC>ccT p.P782P NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 782 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 CGGCATCCAGGGGATCTGTGG 0.627000 21 25 0 0 0.010504 0 0 PM20D1 148811 broad.mit.edu 37 1 205801883 205801883 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:205801883G>A ENST00000367136.4 - 11 1172 c.1128C>T c.(1126-1128)ctC>ctT p.L376L PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 376 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) TGTTCTTCGTGAGTTCTAGGA 0.463000 23 58 0 0 0.018920 0 0 KALRN 8997 broad.mit.edu 37 3 124196142 124196142 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:124196142C>T ENST00000360013.3 + 27 4273 c.4146C>T c.(4144-4146)tcC>tcT p.S1382S KALRN_ENST00000240874.3_Silent_p.S1382S|KALRN_ENST00000460856.1_Silent_p.S1373S NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1382 DH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AGCCTGATTCCAACCAGCTTA 0.403000 20 60 0 0 0.018920 0 0 NOS2 4843 broad.mit.edu 37 17 26108131 26108131 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:26108131G>A ENST00000313735.6 - 8 1028 c.795C>T c.(793-795)atC>atT p.I265I NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 265 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CAGCATAGCGGATGAGCTGAG 0.597000 34 53 0 0 0.017118 0 0 DOPEY1 23033 broad.mit.edu 37 6 83850123 83850123 + Splice_Site SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:83850123G>A ENST00000349129.2 + 23 5675 c.e23+1 DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000484282.1_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AGCTACAAAGGTTAGACAATT 0.378000 22 61 0 0 0.014323 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20585929 20585929 + Missense_Mutation SNP A A T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:20585929A>T ENST00000202677.6 - 15 2070 c.1928T>A c.(1927-1929)aTt>aAt p.I643N RALGAPA2_ENST00000495793.1_5'UTR NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) 643 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GGAGTCCATAATGTTGGCCCA 0.448000 11 35 0 0 0.016723 0 0 PRR23B 389151 broad.mit.edu 37 3 138739226 138739226 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:138739226C>T ENST00000329447.5 - 1 542 c.278G>A c.(277-279)gGt>gAt p.G93D MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 93 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGTGTGTCCACCGAGAGACAC 0.657000 20 52 0 0 0.010504 0 0 CDH6 1004 broad.mit.edu 37 5 31316371 31316371 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:31316371G>A ENST00000265071.2 + 9 1712 c.1447G>A c.(1447-1449)Gac>Aac p.D483N CDH6_ENST00000514738.1_Missense_Mutation_p.D428N NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 483 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGATGTCAATGACAACGCCCC 0.338000 11 21 0 0 0.008291 0 0 ZNF880 400713 broad.mit.edu 37 19 52877582 52877582 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:52877582C>T ENST00000422689.2 + 3 185 c.170C>T c.(169-171)tCc>tTc p.S57F ZNF880_ENST00000597976.1_Missense_Mutation_p.S57F|ZNF880_ENST00000344085.5_Missense_Mutation_p.S57F|ZNF880_ENST00000600321.1_Missense_Mutation_p.S57F|ZNF880_ENST00000424032.2_Missense_Mutation_p.S57F NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 57 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 AGTGTTATCTCCATGTTGGAG 0.433000 8 13 0 0 0.004482 0 0 KEL 3792 broad.mit.edu 37 7 142640576 142640576 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:142640576G>A ENST00000355265.2 - 15 2174 c.1700C>T c.(1699-1701)cCc>cTc p.P567L NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 567 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CCCATACCTGGGATAGCCAGG 0.532000 40 92 0 0 0.010771 0 0 TMEM89 440955 broad.mit.edu 37 3 48658389 48658389 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:48658389G>A ENST00000330862.3 - 2 464 c.366C>T c.(364-366)ctC>ctT p.L122L NM_001008269.1 NP_001008270.1 A2RUT3 TMM89_HUMAN transmembrane protein 89 122 integral to membrane breast(1)|lung(1)|stomach(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GGACCCCACGGAGCAGGGTGT 0.612000 35 64 0 0 0.013726 0 0 ADRA1A 148 broad.mit.edu 37 8 26627945 26627945 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:26627945C>T ENST00000380573.3 - 3 2145 c.1122G>A c.(1120-1122)atG>atA p.M374I ADRA1A_ENST00000276393.4_Missense_Mutation_p.M374I|ADRA1A_ENST00000380582.3_Missense_Mutation_p.M374I|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.M374I|ADRA1A_ENST00000519229.1_Missense_Mutation_p.M374I|ADRA1A_ENST00000380586.1_Missense_Mutation_p.M374I P35348 ADA1A_HUMAN adrenoceptor alpha 1A 374 activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1) 36 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) GGATGCGCACCATGTCCTTGT 0.552000 42 65 0 0 0.036044 0 0 THEMIS 387357 broad.mit.edu 37 6 128222074 128222074 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:128222074C>T ENST00000543064.1 - 1 152 c.4G>A c.(4-6)Gca>Aca p.A2T THEMIS_ENST00000368248.2_Missense_Mutation_p.A2T|THEMIS_ENST00000368250.1_5'UTR|THEMIS_ENST00000537166.1_Intron NM_001164685.1 NP_001158157.1 Q8N1K5 THMS1_HUMAN thymocyte selection associated 2 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 AGTGATAATGCCATTGCTATG 0.502000 36 49 0 0 0.023175 0 0 TSSC2 650368 broad.mit.edu 37 11 3427759 3427759 + RNA SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:3427759C>T ENST00000529482.1 + 0 876 TGTCTGCACACGTCCTGCAGT 0.612000 3 43 0 0 0.009096 0 0 ATXN1 6310 broad.mit.edu 37 6 16327062 16327062 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:16327062C>T ENST00000244769.4 - 8 2416 c.1480G>A c.(1480-1482)Gtc>Atc p.V494I ATXN1_ENST00000436367.1_Missense_Mutation_p.V494I NM_000332.3 NP_000323.2 P54253 ATX1_HUMAN ataxin 1 494 Self-association. cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GTGCTGCCGACCGGGATGAGC 0.662000 59 143 0 0 0.014410 0 0 DYTN 391475 broad.mit.edu 37 2 207558010 207558010 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:207558010G>A ENST00000452335.2 - 9 985 c.869C>T c.(868-870)aCc>aTc p.T290I NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 290 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GTTTCTGAGGGTCCTGAAGAG 0.488000 5 43 0 0 0.014758 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6087146 6087146 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:6087146C>T ENST00000409021.3 - 4 1284 c.e4+1 JAKMIP1_ENST00000409371.3_Splice_Site|JAKMIP1_ENST00000282924.5_Splice_Site|JAKMIP1_ENST00000457227.2_Splice_Site|JAKMIP1_ENST00000410077.2_Splice_Site|JAKMIP1_ENST00000409831.1_Splice_Site NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTGCCCCTCACCTGGACGCCC 0.612000 8 9 0 0 0.004482 0 0 CNTD1 124817 broad.mit.edu 37 17 40951250 40951250 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:40951250C>T ENST00000588408.1 + 1 441 c.165C>T c.(163-165)atC>atT p.I55I CNTD1_ENST00000588527.1_Intron NM_173478.2 NP_775749.2 Q8N815 CNTD1_HUMAN cyclin N-terminal domain containing 1 55 Cyclin N-terminal. central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGCCCCAGATCGTGGGTGCGG 0.602000 5 16 0 0 0.014758 0 0 NALCN 259232 broad.mit.edu 37 13 101717760 101717760 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:101717760G>A ENST00000251127.6 - 40 4681 c.4600C>T c.(4600-4602)Ctg>Ttg p.L1534L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 1534 integral to membrane sodium channel activity|voltage-gated ion channel activity 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) TTGTACCTCAGGACATCATGG 0.537000 32 98 0 0 0.017118 0 0 PLCL2 23228 broad.mit.edu 37 3 17053049 17053049 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:17053049C>T ENST00000418129.2 + 2 2298 c.1833C>T c.(1831-1833)gtC>gtT p.V611V PLCL2_ENST00000432376.1_Silent_p.V611V|PLCL2_ENST00000396755.2_Silent_p.V611V NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 737 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 GGGAGGAGGTCTCCTTCTTCA 0.502000 17 52 0 0 0.008871 0 0 C2CD3 26005 broad.mit.edu 37 11 73759367 73759367 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:73759367G>A ENST00000334126.7 - 28 5604 c.5378C>T c.(5377-5379)cCc>cTc p.P1793L C2CD3_ENST00000313663.7_Missense_Mutation_p.P1793L Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1793 centrosome p.P1793L(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) GAAGGAAAAGGGACTGTATAT 0.418000 5 5 0 0 0.021553 0 0 LCE1E 353135 broad.mit.edu 37 1 152759990 152759990 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:152759990G>A ENST00000368770.3 + 2 268 c.215G>A c.(214-216)gGa>gAa p.G72E LCE1E_ENST00000368771.1_Missense_Mutation_p.G72E NM_178353.1 NP_848130.1 Q5T753 LCE1E_HUMAN late cornified envelope 1E 72 Cys-rich. keratinization lung(5)|stomach(1) 6 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AGCTCTGGGGGAGGTGGCTGC 0.682000 32 71 0 0 0.012213 0 0 OR5H15 403274 broad.mit.edu 37 3 97887904 97887904 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:97887904G>A ENST00000356526.2 + 1 361 c.361G>A c.(361-363)Gat>Aat p.D121N NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 AATGGCATATGATCGCTATGT 0.373000 24 72 0 0 0.009535 0 0 PRSS1 5644 broad.mit.edu 37 7 142460305 142460305 + Missense_Mutation SNP T T C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:142460305T>C ENST00000486171.1 + 5 537 c.520T>C c.(520-522)Tgc>Cgc p.C174R PRSS1_ENST00000311737.7_Missense_Mutation_p.C160R P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 160 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) CGAGCTGCAGTGCCTGGATGC 0.522000 12 472 0 0 0.020292 0 0 C1orf168 199920 broad.mit.edu 37 1 57185864 57185864 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:57185864G>A ENST00000343433.6 - 18 2193 c.2113C>T c.(2113-2115)Cgt>Tgt p.R705C NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN chromosome 1 open reading frame 168 705 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2) 46 TTAGAATTACGACATATCACT 0.269000 7 24 0 0 0.029380 0 0 ABCC3 8714 broad.mit.edu 37 17 48755254 48755254 + Silent SNP T T C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:48755254T>C ENST00000285238.8 + 24 3608 c.3528T>C c.(3526-3528)acT>acC p.T1176T NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1176 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TCAGTGATACTAAGGTGGATG 0.572000 76 121 0 0 0.014410 0 0 RYR3 6263 broad.mit.edu 37 15 34102840 34102840 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:34102840G>A ENST00000389232.4 + 71 10257 c.10187G>A c.(10186-10188)cGa>cAa p.R3396Q RYR3_ENST00000415757.3_Missense_Mutation_p.R3391Q NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3396 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCAAAATCGCGATACAGCCAT 0.547000 17 29 0 0 0.033300 0 0 AMBRA1 55626 broad.mit.edu 37 11 46465037 46465037 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:46465037C>T ENST00000458649.2 - 12 3051 c.e12+1 AMBRA1_ENST00000314845.3_Splice_Site|AMBRA1_ENST00000298834.3_Splice_Site|AMBRA1_ENST00000426438.1_Splice_Site|AMBRA1_ENST00000534300.1_Splice_Site|AMBRA1_ENST00000533727.1_Splice_Site|AMBRA1_ENST00000528950.1_Splice_Site Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) CATTGACTTACCATTACTGAT 0.458000 6 15 0 0 0.003080 0 0 SGSH 6448 broad.mit.edu 37 17 78188523 78188523 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:78188523G>A ENST00000326317.6 - 4 483 c.397C>T c.(397-399)Ccg>Tcg p.P133S SGSH_ENST00000534910.1_5'UTR|SGSH_ENST00000572208.1_Intron|SGSH_ENST00000570923.1_Silent_p.T144T NM_000199.3 NP_000190.1 P51688 SPHM_HUMAN N-sulfoglucosamine sulfohydrolase 133 proteoglycan metabolic process lysosome metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908) AAGTCAAACGGGTACACGGTC 0.597000 26 30 0 0 0.034045 0 0 TAOK2 9344 broad.mit.edu 37 16 29998831 29998831 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:29998831G>A ENST00000308893.4 + 16 4281 c.3238G>A c.(3238-3240)Ggc>Agc p.G1080S TAOK2_ENST00000416441.2_Missense_Mutation_p.G907S|TAOK2_ENST00000543033.1_Missense_Mutation_p.G967S|TAOK2_ENST00000279394.3_Intron NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1080 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GGTGCGCCGGGGCATATCTCG 0.692000 36 70 0 0 0.017118 0 0 MAP3K10 4294 broad.mit.edu 37 19 40710533 40710533 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:40710533C>T ENST00000253055.3 + 3 1293 c.1005C>T c.(1003-1005)ctC>ctT p.L335L NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 335 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 TTGCCCGCCTCCTGGAGGGTG 0.647000 20 44 0 0 0.007413 0 0 TMC5 79838 broad.mit.edu 37 16 19451476 19451476 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:19451476C>T ENST00000396229.2 + 3 865 c.116C>T c.(115-117)cCa>cTa p.P39L TMC5_ENST00000541464.1_Missense_Mutation_p.P39L|TMC5_ENST00000542583.2_Missense_Mutation_p.P39L|TMC5_ENST00000381414.4_Missense_Mutation_p.P39L NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 39 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CCAGATGTTCCAGGTCCTCTG 0.507000 30 70 0 0 0.009535 0 0 RBM42 79171 broad.mit.edu 37 19 36124003 36124003 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:36124003C>T ENST00000262633.4 + 6 638 c.533C>T c.(532-534)gCc>gTc p.A178V RBM42_ENST00000588161.1_Splice_Site_p.A148_splice|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000592202.1_Missense_Mutation_p.A124V|RBM42_ENST00000589871.1_Missense_Mutation_p.A156V|RBM42_ENST00000360475.4_Missense_Mutation_p.A149V|RBM42_ENST00000589559.1_Missense_Mutation_p.A149V NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 178 cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCTGCAGCAGCCGGCCCCCGC 0.682000 39 131 0 0 0.030466 0 0 FOXP4 116113 broad.mit.edu 37 6 41555145 41555145 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:41555145C>T ENST00000373060.1 + 7 1225 c.767C>T c.(766-768)gCc>gTc p.A256V FOXP4_ENST00000373057.3_Missense_Mutation_p.A254V|FOXP4_ENST00000373063.3_Missense_Mutation_p.A255V|FOXP4_ENST00000409208.1_Missense_Mutation_p.A256V|FOXP4_ENST00000307972.4_Missense_Mutation_p.A256V NM_001012426.1|NM_001012427.1 NP_001012426.1|NP_001012427.1 Q8IVH2 FOXP4_HUMAN forkhead box P4 256 embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) ACTGGCACGGCCGCCACCGCT 0.682000 OREG0004065 type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 33 93 0 0 0.015359 0 0 ACKR2 1238 broad.mit.edu 37 3 42906333 42906333 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:42906333G>A ENST00000422265.1 + 3 514 c.339G>A c.(337-339)ggG>ggA p.G113G KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Silent_p.G113G|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.G113G NM_001296.4 NP_001287.2 atypical chemokine receptor 2 GGGTCTTCGGGAGTTTCTTGT 0.483000 46 126 0 0 0.014410 0 0 ANK3 288 broad.mit.edu 37 10 61830627 61830627 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:61830627C>T ENST00000280772.1 - 37 10203 c.10012G>A c.(10012-10014)Gaa>Aaa p.E3338K ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3338 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding 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 TCGTCCACTTCCTTTAATTTG 0.403000 38 81 0 0 0.021022 0 0 MOGAT3 346606 broad.mit.edu 37 7 100839468 100839468 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:100839468C>T ENST00000440203.2 - 6 928 c.871G>A c.(871-873)Ggt>Agt p.G291S MOGAT3_ENST00000379423.3_Intron|MOGAT3_ENST00000223114.4_Splice_Site_p.V291_splice Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 291 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3) 22 Lung NSC(181;0.168)|all_lung(186;0.215) GGGCACTCACCCACAGTGGTG 0.667000 4 9 0 0 0.009096 0 0 SI 6476 broad.mit.edu 37 3 164709234 164709234 + Missense_Mutation SNP T T A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:164709234T>A ENST00000264382.3 - 44 5077 c.5015A>T c.(5014-5016)cAa>cTa p.Q1672L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1672 Sucrase. 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 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) ATTAAATGTTTGAAATTGTCC 0.418000 HNSCC(35;0.089) 11 35 0 0 0.010729 0 0 METAP1D 254042 broad.mit.edu 37 2 172928456 172928456 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:172928456C>T ENST00000315796.4 + 3 603 c.216C>T c.(214-216)gaC>gaT p.D72D METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 72 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 AGAAGCCAGACTATGTGACGA 0.478000 7 14 0 0 0.003080 0 0 INSL5 10022 broad.mit.edu 37 1 67263797 67263797 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:67263797G>A ENST00000304526.2 - 2 341 c.307C>T c.(307-309)Ctt>Ttt p.L103F NM_005478.4 NP_005469.2 Q9Y5Q6 INSL5_HUMAN insulin-like 5 103 extracellular region hormone activity breast(2)|endometrium(1)|lung(5) 8 GACTTCCAAAGCTCTTCAGTG 0.458000 29 24 0 0 0.030593 0 0 BRCA2 675 broad.mit.edu 37 13 32907279 32907279 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr13:32907279C>T ENST00000544455.1 + 10 1891 c.1664C>T c.(1663-1665)cCa>cTa p.P555L BRCA2_ENST00000380152.3_Missense_Mutation_p.P555L NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 555 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCCTTATGTCCAAATTTAATT 0.378000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 26 34 0 0 0.027356 0 0 NUP107 57122 broad.mit.edu 37 12 69109417 69109417 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:69109417C>T ENST00000229179.4 + 12 1312 c.980C>T c.(979-981)gCt>gTt p.A327V NUP107_ENST00000378905.2_Missense_Mutation_p.A176V|NUP107_ENST00000539906.1_Missense_Mutation_p.A298V NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 327 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GACCCTGATGCTCCCATAAGA 0.358000 36 72 0 0 0.021022 0 0 CEACAM5 1048 broad.mit.edu 37 19 42219622 42219622 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:42219622G>A ENST00000221992.6 + 4 871 c.757G>A c.(757-759)Gaa>Aaa p.E253K CEACAM5_ENST00000405816.1_Missense_Mutation_p.E253K|CEACAM5_ENST00000398599.4_Missense_Mutation_p.E253K|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 253 Ig-like 3. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CAGATCAGGGGAAAATCTGAA 0.493000 20 48 0 0 0.007413 0 0 CAPN13 92291 broad.mit.edu 37 2 30973992 30973992 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:30973992G>A ENST00000295055.8 - 11 1389 c.1213C>T c.(1213-1215)Cca>Tca p.P405S CAPN13_ENST00000534090.2_Missense_Mutation_p.P405S NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 405 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity p.P405S(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AAATCGAGTGGAAATTTTGCA 0.463000 6 25 0 0 0.021553 0 0 TSPAN18 90139 broad.mit.edu 37 11 44931324 44931324 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:44931324C>T ENST00000340160.3 + 4 371 c.132C>T c.(130-132)atC>atT p.I44I TSPAN18_ENST00000520358.2_Silent_p.I44I NM_130783.4 NP_570139.3 Q96SJ8 TSN18_HUMAN tetraspanin 18 44 integral to membrane endometrium(1)|large_intestine(6)|lung(3) 10 TCCGGGAGATCGTGGCTGCCA 0.692000 24 43 0 0 0.024334 0 0 CYP4F3 4051 broad.mit.edu 37 19 15763658 15763658 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:15763658C>T ENST00000221307.7 + 9 1059 c.1011C>T c.(1009-1011)ctC>ctT p.L337L CYP4F3_ENST00000592424.1_3'UTR|CYP4F3_ENST00000586182.1_Silent_p.L337L|CYP4F3_ENST00000585846.1_Silent_p.L337L|CYP4F3_ENST00000591058.1_Silent_p.L337L NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 337 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CCAGTGGTCTCTCCTGGGTCC 0.597000 OREG0007254 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CYP4F3|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 18 48 0 0 0.033300 0 0 TMEM119 338773 broad.mit.edu 37 12 108985508 108985508 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr12:108985508C>T ENST00000392806.3 - 2 820 c.652G>A c.(652-654)Gaa>Aaa p.E218K NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 218 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 CCCTGGACTTCCTGGTCCCCC 0.701000 28 89 0 0 0.030593 0 0 RANBP3L 202151 broad.mit.edu 37 5 36265122 36265122 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:36265122C>T ENST00000296604.3 - 6 904 c.419G>A c.(418-420)aGa>aAa p.R140K RANBP3L_ENST00000502994.1_Missense_Mutation_p.R165K|RANBP3L_ENST00000515759.1_Missense_Mutation_p.R140K NM_145000.3 NP_659437.3 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like 140 intracellular transport endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 16 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) AAATGTTTTTCTTACTTTTGC 0.373000 25 50 0 0 0.027356 0 0 CILP2 148113 broad.mit.edu 37 19 19656266 19656266 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:19656266G>A ENST00000586018.1 + 8 3032 c.2930G>A c.(2929-2931)gGa>gAa p.G977E CILP2_ENST00000291495.4_Missense_Mutation_p.G971E Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 971 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 CAGCTCTACGGACTTCGGGAT 0.672000 16 21 0 0 0.028581 0 0 ZFAND2A 90637 broad.mit.edu 37 7 1195178 1195178 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:1195178G>A ENST00000401903.1 - 4 452 c.193C>T c.(193-195)Cca>Tca p.P65S ZFAND2A_ENST00000316495.3_Missense_Mutation_p.P65S Q8N6M9 ZFN2A_HUMAN zinc finger, AN1-type domain 2A 65 cytoplasm|nucleus zinc ion binding lung(2)|ovary(1) 3 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15) TTTTTTACTGGGATGGGGGTA 0.458000 26 103 0 0 0.021523 0 0 KCNMA1 3778 broad.mit.edu 37 10 78651306 78651306 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:78651306C>T ENST00000286627.5 - 25 4097 c.3145G>A c.(3145-3147)Gat>Aat p.D1049N RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.D1107N|KCNMA1_ENST00000404771.3_Missense_Mutation_p.D1107N|KCNMA1_ENST00000372440.1_Missense_Mutation_p.D1049N|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.D1111N|KCNMA1_ENST00000404857.1_Missense_Mutation_p.D1090N|KCNMA1_ENST00000354353.5_Missense_Mutation_p.D1110N|KCNMA1_ENST00000372443.1_Missense_Mutation_p.D1076N NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 1107 Segment S10. cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AATGGCCCATCGAGCAGAGCT 0.572000 16 25 0 0 0.028581 0 0 WDR31 114987 broad.mit.edu 37 9 116085415 116085415 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:116085415G>A ENST00000374193.4 - 6 591 c.345C>T c.(343-345)tcC>tcT p.S115S WDR31_ENST00000341761.4_Silent_p.S114S|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_5'UTR NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 115 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 AGAACTGGCTGGATTTGGGAA 0.493000 21 53 0 0 0.016522 0 0 MYOM3 127294 broad.mit.edu 37 1 24424459 24424459 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr1:24424459C>T ENST00000330966.7 - 7 864 c.702G>A c.(700-702)aaG>aaA p.K234K MYOM3_ENST00000374434.3_Silent_p.K233K|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.K233K Q5VTT5 MYOM3_HUMAN myomesin 3 233 Ig-like C2-type 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CGTGGGCGTTCTTCACTCGCA 0.587000 97 200 0 0 0.014410 0 0 PALD1 27143 broad.mit.edu 37 10 72298062 72298062 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:72298062C>T ENST00000263563.6 + 12 1618 c.1350C>T c.(1348-1350)ttC>ttT p.F450F NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 CCCTCAGTTTCAGCCGCTGGC 0.672000 13 47 0 0 0.020292 0 0 KIAA1755 85449 broad.mit.edu 37 20 36874432 36874432 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:36874432G>A ENST00000279024.4 - 2 371 c.100C>T c.(100-102)Cgt>Tgt p.R34C NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 34 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TCCAGGAGACGGAACACCTGA 0.622000 22 33 0 0 0.012319 0 0 ALDOB 229 broad.mit.edu 37 9 104189764 104189764 + Splice_Site SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr9:104189764C>T ENST00000374855.4 - 5 664 c.540_splice c.e5+1 p.Q180_splice ALDOB_ENST00000468981.2_Intron NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 180 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding p.Q180H(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) GGCAGAGCACCTGCTGACAGA 0.512000 16 36 0 0 0.024245 0 0 GALK2 2585 broad.mit.edu 37 15 49611928 49611928 + Missense_Mutation SNP C C G TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr15:49611928C>G ENST00000327171.3 + 9 1294 c.1062C>G c.(1060-1062)aaC>aaG p.N354K GALK2_ENST00000396509.2_Missense_Mutation_p.N341K|GALK2_ENST00000544523.1_Missense_Mutation_p.N341K|GALK2_ENST00000560031.1_Missense_Mutation_p.N365K|GALK2_ENST00000559454.1_Missense_Mutation_p.N341K|GALK2_ENST00000543495.1_3'UTR NM_001001556.1 NP_001001556.1 Q01415 GALK2_HUMAN galactokinase 2 365 galactose metabolic process cytoplasm ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) AGTTGATGAACCAGAGCCACA 0.567000 7 40 0 0 0.003080 0 0 ELMO3 79767 broad.mit.edu 37 16 67233464 67233464 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:67233464C>T ENST00000393997.2 + 2 303 c.246C>T c.(244-246)ccC>ccT p.P82P ELMO3_ENST00000477898.1_5'UTR|ELMO3_ENST00000360833.1_Silent_p.P82P NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 29 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) AGGCGAAGCCCCTGGCCGCTG 0.761000 15 33 0 0 0.006122 0 0 DNAH17 8632 broad.mit.edu 37 17 76492083 76492083 + Missense_Mutation SNP T T A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:76492083T>A ENST00000389840.5 - 38 5859 c.5735A>T c.(5734-5736)aAg>aTg p.K1912M RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.K1921M dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGCTTTTTTCTTGGCCCGAAT 0.527000 19 44 0 0 0.008871 0 0 TRAJ48 28707 broad.mit.edu 37 14 22959513 22959513 + RNA SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr14:22959513G>A ENST00000390489.1 + 0 35 TAACCTTTGGGACTGGAACAA 0.423000 14 20 0 0 0.028581 0 0 PCP4 5121 broad.mit.edu 37 21 41301006 41301006 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr21:41301006C>T ENST00000328619.5 + 3 344 c.159C>T c.(157-159)ttC>ttT p.F53F PCP4_ENST00000468717.1_3'UTR NM_006198.2 NP_006189.2 P48539 PCP4_HUMAN Purkinje cell protein 4 53 IQ. central nervous system development cytosol|nucleus p.F53L(1) large_intestine(2)|lung(1)|skin(1) 4 Prostate(19;2.65e-06)|all_epithelial(19;0.138) TCAGAAAATTCCAGAAGAAGA 0.448000 9 36 0 0 0.004482 0 0 CA10 56934 broad.mit.edu 37 17 49825170 49825170 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:49825170C>T ENST00000451037.2 - 4 1228 c.288G>A c.(286-288)ggG>ggA p.G96G CA10_ENST00000442502.2_Silent_p.G96G|CA10_ENST00000570565.1_Silent_p.G21G|CA10_ENST00000285273.4_Silent_p.G96G|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Silent_p.G102G NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 96 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TGTACATGGTCCCACTGACCT 0.537000 19 48 0 0 0.012319 0 0 PAX3 5077 broad.mit.edu 37 2 223161825 223161825 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr2:223161825G>A ENST00000350526.4 - 2 329 c.193C>T c.(193-195)Cac>Tac p.H65Y PAX3_ENST00000258387.5_Missense_Mutation_p.H65Y|PAX3_ENST00000409828.3_Missense_Mutation_p.H65Y|PAX3_ENST00000336840.6_Missense_Mutation_p.H65Y|PAX3_ENST00000392070.2_Missense_Mutation_p.H65Y|PAX3_ENST00000392069.2_Missense_Mutation_p.H65Y|PAX3_ENST00000409551.3_Missense_Mutation_p.H65Y|PAX3_ENST00000344493.4_Missense_Mutation_p.H65Y NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 65 Paired. Missing (in WS1). apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGGATGCCGTGGTGGGCCATC 0.657000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 5 15 0 0 0.021553 0 0 ATG9B 285973 broad.mit.edu 37 7 150718391 150718391 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:150718391G>A ENST00000605938.1 - 5 922 c.847C>T c.(847-849)Ctc>Ttc p.L283F ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Silent_p.S20S|ATG9B_ENST00000605952.1_Missense_Mutation_p.L283F|ATG9B_ENST00000377974.2_Missense_Mutation_p.L283F NM_173681.5 NP_775952.4 Q674R7 ATG9B_HUMAN autophagy related 9B 283 autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCAGGAGGAGGACCAGCAGC 0.622000 20 68 0 0 0.012319 0 0 MUC16 94025 broad.mit.edu 37 19 9085375 9085375 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:9085375G>A ENST00000397910.4 - 1 6643 c.6440C>T c.(6439-6441)cCa>cTa p.P2147L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2147 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TATGGCCATTGGAAGAGGGAC 0.488000 35 53 0 0 0.015359 0 0 HAUS5 23354 broad.mit.edu 37 19 36106232 36106232 + Silent SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:36106232C>T ENST00000203166.5 + 6 454 c.429C>T c.(427-429)ctC>ctT p.L143L HAUS5_ENST00000379045.2_Silent_p.L143L NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 143 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 AGCATACGCTCCGAGATCCCA 0.652000 8 13 0 0 0.003080 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810890 106810890 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:106810890C>T ENST00000526355.1 - 4 970 c.502G>A c.(502-504)Gaa>Aaa p.E168K GUCY1A2_ENST00000282249.2_Missense_Mutation_p.E168K|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.E168K NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 168 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TTTTGAATTTCCTCAAACTTC 0.318000 11 23 0 0 0.010729 0 0 DDC 1644 broad.mit.edu 37 7 50611656 50611656 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr7:50611656G>A ENST00000444124.2 - 2 328 c.128C>T c.(127-129)cCt>cTt p.P43L DDC_ENST00000357936.5_Missense_Mutation_p.P43L|DDC_ENST00000431062.1_Missense_Mutation_p.P43L|DDC_ENST00000426377.1_Missense_Mutation_p.P43L|DDC_ENST00000380984.4_Missense_Mutation_p.P43L NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 43 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) GGCAGCGGCAGGGATCAGCGG 0.562000 113 142 0 0 0.014410 0 0 CYP21A2 1589 broad.mit.edu 37 6 32008226 32008226 + Missense_Mutation SNP C C T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:32008226C>T ENST00000418967.2 + 8 1141 c.983C>T c.(982-984)cCt>cTt p.P328L CYP21A2_ENST00000435122.2_Missense_Mutation_p.P298L NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 327 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 GAACTGGGCCCTGGTGCCTCC 0.677000 65 252 0 0 0.014410 0 0 NMNAT3 349565 broad.mit.edu 37 3 139297868 139297868 + Missense_Mutation SNP A A C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr3:139297868A>C ENST00000406164.1 - 4 591 c.28T>G c.(28-30)Tct>Gct p.S10A NMNAT3_ENST00000406824.1_5'UTR|NMNAT3_ENST00000512391.1_Missense_Mutation_p.S47A|RP11-319G6.1_ENST00000515247.1_RNA|RP11-319G6.1_ENST00000381790.3_RNA|NMNAT3_ENST00000413939.2_Intron|NMNAT3_ENST00000511444.1_Missense_Mutation_p.S10A|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000339837.5_Missense_Mutation_p.S10A|NMNAT3_ENST00000296202.7_Missense_Mutation_p.S47A Q96T66 NMNA3_HUMAN nicotinamide nucleotide adenylyltransferase 3 47 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 TTGACAGGAGAGATGATACCC 0.557000 11 18 0 0 0.013537 0 0 KCNIP2 30819 broad.mit.edu 37 10 103599527 103599527 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:103599527G>A ENST00000348850.5 - 1 102 c.71C>T c.(70-72)aCt>aTt p.T24I KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000356640.2_Intron|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000355657.2_Intron|KCNIP2_ENST00000461105.1_Intron|KCNIP2_ENST00000358038.3_Intron NM_173194.2 NP_775286.1 Q9NS61 KCIP2_HUMAN Kv channel interacting protein 2 0 clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission cytoplasm|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.122) Epithelial(162;4.93e-09)|all cancers(201;2.63e-07) CAGCGACCCAGTCACCAGCTG 0.642000 46 104 0 0 0.014410 0 0 TSPAN32 10077 broad.mit.edu 37 11 2334923 2334923 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr11:2334923G>A ENST00000182290.4 + 5 531 c.394G>A c.(394-396)Gag>Aag p.E132K TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Missense_Mutation_p.E132K|TSPAN32_ENST00000451520.2_Missense_Mutation_p.E121K NM_139022.2 NP_620591.3 Q96QS1 TSN32_HUMAN tetraspanin 32 132 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CCTGGTATATGAGCAGGCGAT 0.677000 5 10 0 0 0.014758 0 0 ANK1 286 broad.mit.edu 37 8 41655036 41655036 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:41655036G>A ENST00000396942.1 - 1 104 c.21C>T c.(19-21)ttC>ttT p.F7F ANK1_ENST00000265709.8_Intron|ANK1_ENST00000521407.1_5'UTR|ANK1_ENST00000396945.1_Silent_p.F7F|ANK1_ENST00000352337.4_Silent_p.F7F|ANK1_ENST00000379758.2_Silent_p.F7F|ANK1_ENST00000289734.7_Silent_p.F7F|ANK1_ENST00000347528.4_Silent_p.F7F P16157 ANK1_HUMAN ankyrin 1, erythrocytic 7 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCACTTCGCGGAAGCCCACAG 0.687000 7 11 0 0 0.004482 0 0 HNF4A 3172 broad.mit.edu 37 20 43058205 43058205 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr20:43058205G>A ENST00000316099.3 + 10 1414 c.1325G>A c.(1324-1326)gGg>gAg p.G442E HNF4A_ENST00000457232.1_Missense_Mutation_p.G410E|HNF4A_ENST00000415691.1_Missense_Mutation_p.G432E NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 442 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGTGGCTCAGGGTCTGAGCCC 0.597000 139 328 0 0 0.014410 0 0 FZD2 2535 broad.mit.edu 37 17 42636670 42636670 + Missense_Mutation SNP G G C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:42636670G>C ENST00000315323.3 + 1 1746 c.1614G>C c.(1612-1614)tgG>tgC p.W538C NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 538 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CGGGCTTCTGGATCTGGTCGG 0.627000 9 25 0 0 0.006214 0 0 HECTD2 143279 broad.mit.edu 37 10 93256117 93256117 + Silent SNP T T C TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr10:93256117T>C ENST00000446394.1 + 16 1780 c.1680T>C c.(1678-1680)tgT>tgC p.C560C HECTD2_ENST00000536715.1_Silent_p.C145C|HECTD2_ENST00000371667.1_Silent_p.C206C|HECTD2_ENST00000298068.5_Silent_p.C556C Q5U5R9 HECD2_HUMAN HECT domain containing E3 ubiquitin protein ligase 2 556 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1) 27 ACGACTTATGTCAAATTATGC 0.378000 15 30 0 0 0.024245 0 0 FAM47E-STBD1 100631383 broad.mit.edu 37 4 77227925 77227925 + Translation_Start_Site SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr4:77227925G>A ENST00000237642.6 + 1 747 c.3G>A c.(1-3)atG>atA p.M1I FAM47E-STBD1_ENST00000539752.1_Intron|FAM47E_ENST00000515604.1_Intron NM_003943.4 NP_003934.1 TCTCAGCCATGGGCGCCGTCT 0.701000 21 19 0 0 0.016522 0 0 HUWE1 10075 broad.mit.edu 37 X 53631699 53631699 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chrX:53631699G>A ENST00000342160.3 - 25 3050 c.2593C>T c.(2593-2595)Cct>Tct p.P865S HUWE1_ENST00000262854.6_Missense_Mutation_p.P865S|HUWE1_ENST00000218328.8_Missense_Mutation_p.P865S Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 865 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 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 GAGCCCCCAGGGGATTCAATG 0.572000 6 6 0 0 0.029380 0 0 LIMK2 3985 broad.mit.edu 37 22 31674412 31674412 + Silent SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr22:31674412G>A ENST00000331728.4 + 16 2016 c.1902G>A c.(1900-1902)cgG>cgA p.R634R LIMK2_ENST00000467301.1_3'UTR|LIMK2_ENST00000333611.4_Silent_p.R613R|LIMK2_ENST00000444929.2_Silent_p.R388R NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 634 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 GCCTGACCCGGGACTCACCTC 0.667000 44 69 0 0 0.036044 0 0 MUC16 94025 broad.mit.edu 37 19 9049101 9049101 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:9049101G>A ENST00000397910.4 - 5 32733 c.32530C>T c.(32530-32532)Cat>Tat p.H10844Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10846 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GATTTACTATGGAAAAAAATG 0.483000 44 90 0 0 0.014410 0 0 DNAH9 1770 broad.mit.edu 37 17 11648297 11648297 + Missense_Mutation SNP C C T rs149674795 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:11648297C>T ENST00000262442.3 + 31 6363 c.6295C>T c.(6295-6297)Ccc>Tcc p.P2099S DNAH9_ENST00000454412.2_Missense_Mutation_p.P2099S NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2099 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.P2099S(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGACCTCTTTCCCGCCCTGGA 0.557000 8 38 0 0 0.003080 0 0 PXDNL 137902 broad.mit.edu 37 8 52320801 52320801 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr8:52320801G>A ENST00000356297.4 - 17 3483 c.3383C>T c.(3382-3384)tCc>tTc p.S1128F PXDNL_ENST00000543296.1_Missense_Mutation_p.S1128F NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1128 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity 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) ATAAGCCGCGGAGAAGAGCCT 0.572000 72 90 0 0 0.014410 0 0 ATP10B 23120 broad.mit.edu 37 5 160113203 160113203 + Missense_Mutation SNP G G A TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr5:160113203G>A ENST00000327245.5 - 6 1199 c.353C>T c.(352-354)aCc>aTc p.T118I CTC-529G1.1_ENST00000524198.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 118 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGTAACATGGTGATTTCTCT 0.473000 3 24 0 0 0.004672 0 0 WDR46 9277 broad.mit.edu 37 6 33248675 33248675 + Frame_Shift_Del DEL T T - TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr6:33248675delT ENST00000374617.4 - 11 1561 c.1205delA c.(1204-1206)ctfs p.H402fs B3GALT4_ENST00000606990.1_Intron NM_001164267.1|NM_005452.5 NP_001157739.1|NP_005443.3 O15213 WDR46_HUMAN WD repeat domain 46 402 NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 20 CCCTGCTCCATGGGGCAGGGT 0.632 31 77 --- --- --- --- GDPD3 79153 broad.mit.edu 37 16 30119700 30119700 + Frame_Shift_Del DEL G G - TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr16:30119700delG ENST00000406256.3 - 8 1138 c.761delC c.(760-762)tgfs p.S254fs RP11-455F5.4_ENST00000566190.1_RNA NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 254 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 TCACCATTTCGAAACCACAGC 0.567 90 170 --- --- --- --- WDR81 124997 broad.mit.edu 37 17 1631341 1631343 + In_Frame_Del DEL GAG GAG - rs66598941 TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr17:1631341_1631343delGAG ENST00000409644.1 + 1 3088_3090 c.3088_3090delGAG c.(3088-3090)del p.E1033del WDR81_ENST00000437219.2_Intron|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_5'UTR NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 305 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGGGGCTGCTGAGGAGGAGGAGA 0.695 4 4 --- --- --- --- DLL3 10683 broad.mit.edu 37 19 39989869 39989870 + Frame_Shift_Ins INS - - T TCGA-EE-A29C-06A-21D-A197-08 TCGA-EE-A29C-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96889106-1c89-4a7f-9bfb-604522b19eae e3c858e9-aa74-4b17-8957-cda08c26e10e g.chr19:39989869_39989870insT ENST00000205143.4 + 2 114_115 c.107_108insT c.(106-108)tttfs p.F36fs DLL3_ENST00000600579.1_3'UTR|DLL3_ENST00000356433.5_Frame_Shift_Ins_p.F36fs NM_016941.3 NP_058637.1 Q9NYJ7 DLL3_HUMAN delta-like 3 (Drosophila) 36 Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 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) CAGATCCACTCTTTCGGGCCGG 0.733 4 3 --- --- --- ---