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 ALDH8A1 64577 broad.mit.edu 37 6 135254135 135254135 + Missense_Mutation SNP T T C TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr6:135254135T>C ENST00000265605.2 - 5 696 c.628A>G c.(628-630)Acc>Gcc p.T210A ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T210A|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T160A NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 210 retinal metabolic process cytoplasm retinal dehydrogenase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CTGGGCCCGGTTCCAAACACA 0.542000 18 24 0 0 0.000175454 0 0 ACOT8 10005 broad.mit.edu 37 20 44485829 44485829 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr20:44485829G>A ENST00000217455.4 - 1 216 c.126C>T c.(124-126)ttC>ttT p.F42F NM_005469.3 NP_005460.2 O14734 ACOT8_HUMAN acyl-CoA thioesterase 8 42 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization peroxisomal matrix acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding kidney(2)|large_intestine(3)|lung(4)|skin(1) 10 Myeloproliferative disorder(115;0.0122) CCGGCTACCTGAAGAGATCCT 0.662000 21 57 0 0 0.00047179 0 0 MYH7 4625 broad.mit.edu 37 14 23887583 23887583 + Silent SNP C C T rs144465613 byFrequency TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr14:23887583C>T ENST00000355349.3 - 30 4167 c.4005G>A c.(4003-4005)tcG>tcA p.S1335S NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1335 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.S1335S(3) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CATGCCGGGCCGACTGCAGTG 0.662000 6 33 0 0 0.000442599 0 0 COL20A1 57642 broad.mit.edu 37 20 61941745 61941745 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr20:61941745G>A ENST00000422202.1 + 10 1365 c.1297G>A c.(1297-1299)Gga>Aga p.G433R COL20A1_ENST00000435874.1_Missense_Mutation_p.G433R|COL20A1_ENST00000358894.6_Missense_Mutation_p.G426R|COL20A1_ENST00000326996.6_Missense_Mutation_p.G426R Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 426 Fibronectin type-III 2. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) GGTGGTGGAGGGACCCGCCGC 0.672000 5 13 0 0 8.12818e-05 0 0 LDB3 11155 broad.mit.edu 37 10 88476097 88476097 + Silent SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr10:88476097C>T ENST00000429277.2 + 10 1405 c.1260C>T c.(1258-1260)acC>acT p.T420T LDB3_ENST00000263066.6_Silent_p.T305T|LDB3_ENST00000458213.2_Silent_p.T305T|LDB3_ENST00000361373.4_Silent_p.T415T|LDB3_ENST00000352360.5_Silent_p.T158T NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 415 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 CTGCATCTACCTACAGCCCGT 0.572000 18 11 0 0 0.000175454 0 0 GCNT3 9245 broad.mit.edu 37 15 59911184 59911184 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr15:59911184G>A ENST00000396065.1 + 3 1195 c.747G>A c.(745-747)agG>agA p.R249R GCNT3_ENST00000560585.1_Silent_p.R249R NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type 249 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGAATGGGAGGAATAGCATGG 0.458000 88 89 0 0 0.000781405 0 0 TSPAN6 7105 broad.mit.edu 37 X 99887504 99887504 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chrX:99887504G>A ENST00000373020.4 - 6 758 c.647C>T c.(646-648)tCc>tTc p.S216F NM_003270.2 NP_003261.1 O43657 TSN6_HUMAN tetraspanin 6 216 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane signal transducer activity endometrium(2)|kidney(3)|large_intestine(6)|ovary(1) 12 AACTCCAAAGGAAATTCCTGC 0.338000 11 1 0 0 0.000151284 0 0 ATF7IP 55729 broad.mit.edu 37 12 14610194 14610194 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr12:14610194G>A ENST00000544627.1 + 8 2467 c.2147G>A c.(2146-2148)aGt>aAt p.S716N ATF7IP_ENST00000543189.1_Missense_Mutation_p.S707N|ATF7IP_ENST00000541654.1_Intron|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S708N|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S708N|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S707N Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 708 Interaction with SETDB1. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 GTAAGCGAGAGTGCACCACCA 0.363000 11 15 0 0 0.00010058 0 0 ZC3H3 23144 broad.mit.edu 37 8 144550575 144550575 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr8:144550575G>A ENST00000262577.5 - 7 2113 c.2082C>T c.(2080-2082)ccC>ccT p.P694P NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 694 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CCACCTTCTCGGGATCGTGGA 0.672000 9 27 0 0 0.000274275 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764709 92764709 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr7:92764709G>A ENST00000318238.4 - 5 1792 c.576C>T c.(574-576)ctC>ctT p.L192L SAMD9L_ENST00000411955.1_Silent_p.L192L|SAMD9L_ENST00000437805.1_Silent_p.L192L NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 192 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TTGGATCAATGAGATTGAGTG 0.393000 39 205 0 0 0.000953801 0 0 RAI1 10743 broad.mit.edu 37 17 17698878 17698878 + Silent SNP C C G TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr17:17698878C>G ENST00000353383.1 + 3 3085 c.2616C>G c.(2614-2616)tcC>tcG p.S872S RAI1_ENST00000261641.6_Silent_p.S872S NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 872 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) AGGAGTACTCCTCCCTATGTG 0.657000 9 3 0 0 0.000274275 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431171 140431171 + Missense_Mutation SNP T T A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr5:140431171T>A ENST00000306549.3 + 1 193 c.116T>A c.(115-117)aTg>aAg p.M39K NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 39 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCAGAGGAAATGGAGAGCGGC 0.537000 14 18 0 0 0.000422831 0 0 ZNF385B 151126 broad.mit.edu 37 2 180308110 180308110 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr2:180308110G>A ENST00000410066.1 - 10 1886 c.1283C>T c.(1282-1284)tCc>tTc p.S428F ZNF385B_ENST00000336917.5_Missense_Mutation_p.S326F|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.S352F|ZNF385B_ENST00000409692.1_Missense_Mutation_p.S326F NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 428 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) CAGCGCTGAGGACACGGCTGC 0.627000 9 17 0 0 0.000673444 0 0 MPP7 143098 broad.mit.edu 37 10 28420536 28420536 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr10:28420536C>T ENST00000337532.5 - 7 676 c.400G>A c.(400-402)Gaa>Aaa p.E134K MPP7_ENST00000375719.3_Missense_Mutation_p.E134K|MPP7_ENST00000375732.1_Missense_Mutation_p.E134K|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000540098.1_Missense_Mutation_p.E134K|MPP7_ENST00000445954.2_Missense_Mutation_p.E9K NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 134 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 ACTGAGTCTTCCTCATCGTCA 0.418000 36 13 0 0 0.00111076 0 0 MARCO 8685 broad.mit.edu 37 2 119752093 119752093 + Silent SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr2:119752093C>T ENST00000541757.1 + 18 1706 c.1326C>T c.(1324-1326)gtC>gtT p.V442V MARCO_ENST00000327097.4_Silent_p.V520V Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 520 SRCR. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 AGTGCAGCGTCTGACCCGGAA 0.607000 23 27 0 0 0.000375601 0 0 NCOR1 9611 broad.mit.edu 37 17 16024512 16024512 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr17:16024512G>A ENST00000268712.3 - 16 1963 c.1706C>T c.(1705-1707)cCc>cTc p.P569L NCOR1_ENST00000395851.1_Missense_Mutation_p.P569L|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Missense_Mutation_p.P460L NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 569 cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TCGCCCCCGGGGTGTGGCTTG 0.537000 49 72 0 0 0.000781405 0 0 ZBTB46 140685 broad.mit.edu 37 20 62407266 62407266 + Silent SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr20:62407266C>T ENST00000245663.4 - 3 1137 c.987G>A c.(985-987)gaG>gaA p.E329E ZBTB46_ENST00000395104.1_Silent_p.E329E|ZBTB46_ENST00000302995.2_Silent_p.E329E NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 329 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GCTCGGCCCTCTCTCCTCGGC 0.642000 30 26 0 0 0.000491102 0 0 DNAH5 1767 broad.mit.edu 37 5 13871819 13871819 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr5:13871819C>T ENST00000265104.4 - 23 3556 c.3452G>A c.(3451-3453)gGa>gAa p.G1151E CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1151 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) TTCTTCTTTTCCCTTTTGCCA 0.353000 Kartagener syndrome 18 22 0 0 0.00074312 0 0 C6orf118 168090 broad.mit.edu 37 6 165706950 165706950 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr6:165706950C>T ENST00000543069.1 - 6 1341 c.760G>A c.(760-762)Gaa>Aaa p.E254K C6orf118_ENST00000230301.8_Missense_Mutation_p.E358K Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 358 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) ATCTCCAGTTCACTTCTGAGT 0.438000 58 173 0 0 0.000781405 0 0 GGT1 2678 broad.mit.edu 37 22 25011077 25011077 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr22:25011077C>T ENST00000400382.1 + 7 1120 c.365C>T c.(364-366)tCg>tTg p.S122L GGT1_ENST00000248923.4_Missense_Mutation_p.S122L|GGT1_ENST00000400380.1_Missense_Mutation_p.S122L|GGT1_ENST00000400383.1_Missense_Mutation_p.S122L|GGT1_ENST00000406383.2_Missense_Mutation_p.S122L P19440 GGT1_HUMAN gamma-glutamyltransferase 1 122 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TTCAACAGCTCGGAGCAGTCC 0.652000 17 20 0 0 0.000175454 0 0 SLC22A17 51310 broad.mit.edu 37 14 23817500 23817500 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr14:23817500G>A ENST00000354772.3 - 6 1211 c.708C>T c.(706-708)ttC>ttT p.F236F SLC22A17_ENST00000397260.3_Silent_p.F125F|SLC22A17_ENST00000474057.1_5'UTR|SLC22A17_ENST00000397267.1_Silent_p.F236F|SLC22A17_ENST00000206544.8_Silent_p.F236F NM_016609.3 NP_057693.3 Q8WUG5 S22AH_HUMAN solute carrier family 22, member 17 236 siderophore transport integral to organelle membrane|integral to plasma membrane|vacuolar membrane transmembrane receptor activity|transmembrane transporter activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00643) CGGACTCCAGGAACAAACCAG 0.617000 45 59 0 0 0.000781405 0 0 SKIV2L 6499 broad.mit.edu 37 6 31928048 31928048 + Silent SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr6:31928048C>T ENST00000375394.2 + 4 401 c.288C>T c.(286-288)gcC>gcT p.A96A SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 96 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 TCCTGGGAGCCCCAGTCCCAT 0.522000 95 397 0 0 0.000781405 0 0 EDEM3 80267 broad.mit.edu 37 1 184672095 184672095 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr1:184672095G>A ENST00000318130.8 - 19 2505 c.2239C>T c.(2239-2241)Ctg>Ttg p.L747L EDEM3_ENST00000367512.3_Silent_p.L704L|EDEM3_ENST00000466392.1_5'UTR NM_025191.3 NP_079467.3 Q9BZQ6 EDEM3_HUMAN ER degradation enhancer, mannosidase alpha-like 3 747 PA. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 ATCTGGAACAGAGGGGCAGTA 0.418000 17 34 0 0 0.000132079 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361257 70361257 + Missense_Mutation SNP T T C TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr4:70361257T>C ENST00000305107.6 - 1 369 c.323A>G c.(322-324)tAt>tGt p.Y108C UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.Y108C|UGT2B4_ENST00000381096.3_Intron NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 108 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TTGTGAAAAATATGACCAAAA 0.318000 12 14 0 0 0.000978159 0 0 OR52E6 390078 broad.mit.edu 37 11 5862851 5862851 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr11:5862851C>T ENST00000329322.5 - 1 276 c.277G>A c.(277-279)Gaa>Aaa p.E93K OR52E6_ENST00000379946.2_Missense_Mutation_p.E97K|TRIM5_ENST00000380027.1_Intron NM_001005167.1 NP_001005167.1 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, member 6 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGATATTTCCTTGATATTG 0.473000 13 78 0 0 0.000219431 0 0 IGHV4-34 28395 broad.mit.edu 37 14 106829696 106829696 + RNA SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr14:106829696G>A ENST00000390616.2 - 0 297 CTCGACTCTTGAGGGACGGGT 0.557000 67 76 0 0 0.000781405 0 0 SPATA16 83893 broad.mit.edu 37 3 172834933 172834933 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr3:172834933C>T ENST00000351008.3 - 2 772 c.589G>A c.(589-591)Gga>Aga p.G197R NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 197 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) CTGAACTGTCCTGCTGCCAAG 0.408000 42 84 0 0 0.000781405 0 0 TTLL5 23093 broad.mit.edu 37 14 76135802 76135802 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr14:76135802C>T ENST00000298832.9 + 3 323 c.118C>T c.(118-120)Cca>Tca p.P40S TTLL5_ENST00000556977.1_Missense_Mutation_p.P40S|TTLL5_ENST00000286650.5_Missense_Mutation_p.P40S|TTLL5_ENST00000557636.1_Missense_Mutation_p.P40S NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 40 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) CAGGAGAATTCCAGTTTTGGT 0.448000 95 119 0 0 0.000781405 0 0 PCDHB14 56122 broad.mit.edu 37 5 140603189 140603189 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr5:140603189G>A ENST00000239449.4 + 1 112 c.112G>A c.(112-114)Gaa>Aaa p.E38K PCDHB14_ENST00000515856.2_Intron NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 38 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.E38K(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGTGGCAGAGGAAACAGAAAT 0.502000 19 22 0 0 0.000132079 0 0 TSSC2 650368 broad.mit.edu 37 11 3429978 3429978 + RNA SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr11:3429978G>A ENST00000529482.1 + 0 2107 AGAACCTGCGGGAGTCGCAGC 0.527000 14 9 0 0 0.000308642 0 0 XIRP2 129446 broad.mit.edu 37 2 168105430 168105430 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr2:168105430C>T ENST00000409195.1 + 9 7617 c.7528C>T c.(7528-7530)Ccc>Tcc p.P2510S XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2288S|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.P2510S|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2335 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AACTTCAGCACCCAGGAAAAA 0.368000 31 40 0 0 0.000692331 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 4 36 0 0 0.00024832 0 0 MLLT6 4302 broad.mit.edu 37 17 36872623 36872623 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr17:36872623C>T ENST00000325718.7 + 10 1131 c.1040C>T c.(1039-1041)tCg>tTg p.S347L CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 347 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) TGCACAGTCTCGTCCCTGCAG 0.632000 T MLL AL 4 9 0 0 0.00024832 0 0 OR52N2 390077 broad.mit.edu 37 11 5841865 5841865 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr11:5841865G>A ENST00000317037.2 + 1 322 c.300G>A c.(298-300)ctG>ctA p.L100L TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACGCCTGCCTGGCCCAGATGT 0.517000 7 82 0 0 8.12818e-05 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835290 12835290 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr1:12835290C>T ENST00000357726.4 + 1 307 c.280C>T c.(280-282)Cgc>Tgc p.R94C NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 94 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCAGAAGGTTCGCCCCAGGTG 0.592000 20 10 0 0 0.00047179 0 0 PDE6C 5146 broad.mit.edu 37 10 95400680 95400680 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr10:95400680G>A ENST00000371447.3 + 14 1879 c.1741G>A c.(1741-1743)Gga>Aga p.G581R NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 581 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) TTTTTAGACAGGAAGATTAAA 0.368000 19 4 0 0 0.000958276 0 0 TACR2 6865 broad.mit.edu 37 10 71174729 71174729 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr10:71174729C>T ENST00000373306.4 - 2 1102 c.559G>A c.(559-561)Gaa>Aaa p.E187K NM_001057.2 NP_001048.2 P21452 NK2R_HUMAN tachykinin receptor 2 187 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) CCGCTGTCTTCGGGCCAGGCC 0.627000 28 6 0 0 0.000279167 0 0 TEX101 83639 broad.mit.edu 37 19 43922417 43922417 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr19:43922417G>A ENST00000602198.1 + 8 1114 c.672G>A c.(670-672)agG>agA p.R224R TEX101_ENST00000253435.7_Silent_p.R224R|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Silent_p.R206R NM_031451.4 NP_113639.4 Q9BY14 TX101_HUMAN testis expressed 101 206 anchored to membrane|plasma membrane large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) TGTTTGTGAGGGAAGCGTGCC 0.527000 40 52 0 0 0.000270559 0 0 FARP1 10160 broad.mit.edu 37 13 98996100 98996100 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr13:98996100C>T ENST00000376586.2 + 3 592 c.256C>T c.(256-258)Cct>Tct p.P86S FARP1_ENST00000319562.6_Missense_Mutation_p.P86S|FARP1_ENST00000595437.1_Missense_Mutation_p.P86S Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 86 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CCTCGAGTTTCCTGATCACAA 0.483000 34 55 0 0 0.000409698 0 0 ZNF18 7566 broad.mit.edu 37 17 11881421 11881421 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr17:11881421G>A ENST00000322748.3 - 9 2107 c.1503C>T c.(1501-1503)ttC>ttT p.F501F ZNF18_ENST00000580613.1_3'UTR|ZNF18_ENST00000580306.1_Silent_p.F501F|ZNF18_ENST00000454073.3_Silent_p.F500F NM_144680.2 NP_653281.2 P17022 ZNF18_HUMAN zinc finger protein 18 501 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4) 14 Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233) ATCTCTGAATGAAACTTTTCT 0.438000 15 36 0 0 0.000308642 0 0 TPSB2 64499 broad.mit.edu 37 16 1279725 1279725 + RNA SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr16:1279725G>A ENST00000430512.2 - 0 126 TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA NM_024164.5 NP_077078.5 P20231 TRYB2_HUMAN tryptase beta 2 (gene/pseudogene) proteolysis extracellular region protein binding|serine-type endopeptidase activity lung(1)|upper_aerodigestive_tract(1) 2 Hepatocellular(780;0.00369) CTCGCTGCAGGGCCTGGCCTG 0.701000 7 14 0 0 0.000442599 0 0 SLC37A3 84255 broad.mit.edu 37 7 140035085 140035085 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr7:140035085G>A ENST00000340308.3 - 12 1421 c.1310C>T c.(1309-1311)aCt>aTt p.T437I SLC37A3_ENST00000447932.2_3'UTR|SLC37A3_ENST00000326232.9_3'UTR NM_032295.2 NP_115671.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 0 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) GTGGCTGGCAGTGTTGAGAGA 0.493000 68 30 0 0 0.000781405 0 0 MAGI2 9863 broad.mit.edu 37 7 78150951 78150951 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr7:78150951C>T ENST00000354212.4 - 4 803 c.550G>A c.(550-552)Ggt>Agt p.G184S MAGI2_ENST00000419488.1_Missense_Mutation_p.G184S|MAGI2_ENST00000535697.1_Missense_Mutation_p.G21S|MAGI2_ENST00000517762.1_5'UTR|MAGI2_ENST00000522391.1_Missense_Mutation_p.G184S|MAGI2_ENST00000536571.1_Missense_Mutation_p.G16S NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 184 Guanylate kinase-like. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TTTGGGGTACCGTAGTAATTG 0.383000 54 198 0 0 0.000781405 0 0 GPR32 2854 broad.mit.edu 37 19 51274504 51274504 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr19:51274504G>A ENST00000270590.4 + 1 784 c.647G>A c.(646-648)gGg>gAg p.G216E NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 216 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CACATTATAGGGACCATTGGC 0.567000 17 24 0 0 0.000422831 0 0 SCN10A 6336 broad.mit.edu 37 3 38768522 38768522 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr3:38768522G>A ENST00000449082.2 - 16 2661 c.2662C>T c.(2662-2664)Ctg>Ttg p.L888L NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 888 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTCAATAGCAGGGCGATGAAC 0.552000 42 40 0 0 0.000680045 0 0 GMEB2 26205 broad.mit.edu 37 20 62236122 62236122 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr20:62236122G>A ENST00000266068.1 - 2 681 c.203C>T c.(202-204)tCc>tTc p.S68F GMEB2_ENST00000370077.1_Missense_Mutation_p.S68F|GMEB2_ENST00000370069.1_Missense_Mutation_p.S17F Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 68 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) GAGCTGGGAGGAGGCTGTGAA 0.572000 33 92 0 0 0.000692331 0 0 CCDC136 64753 broad.mit.edu 37 7 128451908 128451908 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr7:128451908G>A ENST00000297788.4 + 13 2450 c.2083G>A c.(2083-2085)Ggt>Agt p.G695S CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000378685.4_Intron NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 695 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GTATGACGCCGGTCAGGCGAA 0.582000 5 93 0 0 3.59834e-05 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47424434 47424434 + Missense_Mutation SNP A A T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr19:47424434A>T ENST00000404338.3 + 1 2502 c.2502A>T c.(2500-2502)gaA>gaT p.E834D NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 834 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity AGCGGATTGAACTGTCTGTTC 0.433000 43 73 0 0 0.000781405 0 0 ZNF41 7592 broad.mit.edu 37 X 47315704 47315704 + Missense_Mutation SNP T T C TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chrX:47315704T>C ENST00000377065.4 - 3 805 c.166A>G c.(166-168)Aca>Gca p.T56A ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Missense_Mutation_p.T66A|ZNF41_ENST00000313116.7_Missense_Mutation_p.T56A NM_153380.2 NP_700359.1 P51814 ZNF41_HUMAN zinc finger protein 41 98 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2) 24 all_lung(315;0.000129) TTCTCTAGTGTCACATCCCAG 0.552000 24 8 0 0 0.000878237 0 0 ITGAX 3687 broad.mit.edu 37 16 31384649 31384649 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr16:31384649G>A ENST00000268296.4 + 20 2567 c.2446G>A c.(2446-2448)Gga>Aga p.G816R ITGAX_ENST00000562522.1_Missense_Mutation_p.G816R 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 p.G816*(2) 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 AGACTCCTACGGAACCACCAT 0.607000 15 26 0 0 0.000308642 0 0 LAMP3 27074 broad.mit.edu 37 3 182870284 182870284 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr3:182870284G>A ENST00000265598.3 - 3 1022 c.767C>T c.(766-768)tCa>tTa p.S256L LAMP3_ENST00000466939.1_Missense_Mutation_p.S232L NM_014398.3 NP_055213.2 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 256 cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) TCTCCGAGGTGAAAAAACCTA 0.453000 88 122 0 0 0.000781405 0 0 MUC17 140453 broad.mit.edu 37 7 100693870 100693870 + Silent SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr7:100693870C>T ENST00000306151.4 + 7 12892 c.12828C>T c.(12826-12828)atC>atT p.I4276I NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4276 SEA. 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) AAGAGAAAATCACAAAAGTGA 0.473000 66 29 0 0 0.000781405 0 0 SMC5 23137 broad.mit.edu 37 9 72879317 72879317 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr9:72879317C>T ENST00000361138.5 + 2 341 c.283C>T c.(283-285)Ctt>Ttt p.L95F NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 95 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 TGCCATTTGCCTTGGTTTAGC 0.383000 32 68 0 0 0.000953801 0 0 KIAA0947 23379 broad.mit.edu 37 5 5457825 5457825 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr5:5457825C>T ENST00000296564.7 + 12 1294 c.1072C>T c.(1072-1074)Ccg>Tcg p.P358S NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 358 Pro-rich. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 ATCACCTCACCCGGGTTCCTT 0.458000 96 150 0 0 0.000781405 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417222 150417222 + Missense_Mutation SNP G G T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr7:150417222G>T ENST00000307194.5 + 3 270 c.130G>T c.(130-132)Ggg>Tgg p.G44W NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAGCGCCACTGGGAACAGCAT 0.637000 48 141 1.30916e-28 3.06369e-27 0.000781405 1 0 CSPG4 1464 broad.mit.edu 37 15 75982869 75982869 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr15:75982869G>A ENST00000308508.5 - 3 629 c.537C>T c.(535-537)agC>agT p.S179S NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 179 Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GCCGGAGGAGGCTGCGGCCAT 0.642000 25 44 0 0 0.00106085 0 0 KCNS3 3790 broad.mit.edu 37 2 18112675 18112675 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr2:18112675G>A ENST00000403915.1 + 3 851 c.400G>A c.(400-402)Gac>Aac p.D134N KCNS3_ENST00000304101.4_Missense_Mutation_p.D134N|KCNS3_ENST00000465292.1_Intron Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 134 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GAAGGACTGGGACCAGAAAAG 0.502000 23 40 0 0 0.000375601 0 0 TGFB1I1 7041 broad.mit.edu 37 16 31487500 31487500 + Silent SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr16:31487500C>T ENST00000394863.3 + 8 1012 c.882C>T c.(880-882)atC>atT p.I294I TGFB1I1_ENST00000567607.1_Silent_p.I277I|TGFB1I1_ENST00000361773.3_Silent_p.I277I|TGFB1I1_ENST00000394858.2_Silent_p.I277I NM_001042454.2 NP_001035919.1 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced transcript 1 294 LIM zinc-binding 2. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding lung(8)|upper_aerodigestive_tract(1) 9 ACCAGCCCATCCGACACGTGA 0.667000 21 38 0 0 0.00047179 0 0 SYCE1 93426 broad.mit.edu 37 10 135368926 135368926 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr10:135368926C>T ENST00000368517.3 - 12 877 c.739G>A c.(739-741)Gaa>Aaa p.E247K SYCE1_ENST00000343131.5_Missense_Mutation_p.E283K|SYCE1_ENST00000432597.2_Missense_Mutation_p.E247K|SPRN_ENST00000541506.1_Intron NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 283 cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CCATGCTTTTCCAGCTCTTCC 0.562000 31 22 0 0 0.000409698 0 0 CD5L 922 broad.mit.edu 37 1 157803144 157803144 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr1:157803144G>A ENST00000368174.4 - 5 973 c.877C>T c.(877-879)Ccc>Tcc p.P293S NM_005894.2 NP_005885.1 O43866 CD5L_HUMAN CD5 molecule-like 293 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 52 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTGAAGGAGGGAGAGAGGGAC 0.587000 29 78 0 0 0.000227799 0 0 CCDC30 728621 broad.mit.edu 37 1 43042868 43042868 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr1:43042868G>A ENST00000428554.2 + 14 2176 c.1033G>A c.(1033-1035)Gag>Aag p.E345K CCDC30_ENST00000507855.1_Missense_Mutation_p.E134K|CCDC30_ENST00000390640.4_Missense_Mutation_p.E134K|CCDC30_ENST00000342022.4_Missense_Mutation_p.E345K|CCDC30_ENST00000340612.4_Missense_Mutation_p.E345K Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 345 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 GCTGGTTCAGGAGAAATCTAA 0.393000 11 15 0 0 0.000673444 0 0 ZC3H3 23144 broad.mit.edu 37 8 144550576 144550576 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr8:144550576G>A ENST00000262577.5 - 7 2112 c.2081C>T c.(2080-2082)cCc>cTc p.P694L NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 694 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CACCTTCTCGGGATCGTGGAT 0.677000 9 28 0 0 0.000274275 0 0 TBCB 1155 broad.mit.edu 37 19 36616653 36616653 + Missense_Mutation SNP C C T rs1801989 TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr19:36616653C>T ENST00000221855.3 + 6 1279 c.704C>T c.(703-705)cCg>cTg p.P235L TBCB_ENST00000589996.1_3'UTR|TBCB_ENST00000586868.1_3'UTR|TBCB_ENST00000585746.1_Missense_Mutation_p.P184L NM_001281.2 NP_001272.2 Q99426 TBCB_HUMAN tubulin folding cofactor B 235 'de novo' posttranslational protein folding|cell differentiation|nervous system development cytoplasm|microtubule protein binding large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGGGACTTCCCGGAGGAGGAC 0.572000 37 77 0 0 0.000953801 0 0 TREM2 54209 broad.mit.edu 37 6 41126821 41126821 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr6:41126821G>A ENST00000373122.4 - 4 526 c.506C>T c.(505-507)cCt>cTt p.P169L TREM2_ENST00000373113.3_Intron|TREM2_ENST00000338469.3_Intron Q9NZC2 TREM2_HUMAN triggering receptor expressed on myeloid cells 2 169 axon guidance|humoral immune response extracellular region|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1) 11 Ovarian(28;0.0418)|Colorectal(47;0.196) GAGACAAGAAGGCAGATGGGA 0.522000 11 17 0 0 0.000151284 0 0 RGPD3 653489 broad.mit.edu 37 2 107040225 107040225 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr2:107040225C>T ENST00000409886.3 - 20 4285 c.4198G>A c.(4198-4200)Gac>Aac p.D1400N RGPD3_ENST00000304514.7_Missense_Mutation_p.D1400N NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1400 RanBD1 2. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 AATACTTGGTCCCTTCTCATC 0.363000 119 207 0 0 0.000781405 0 0 OR10H4 126541 broad.mit.edu 37 19 16060553 16060553 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr19:16060553C>T ENST00000322107.1 + 1 736 c.736C>T c.(736-738)Cac>Tac p.H246Y NM_001004465.1 NP_001004465.1 Q8NGA5 O10H4_HUMAN olfactory receptor, family 10, subfamily H, member 4 246 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 GTGTGTATCCCACCTCACTGT 0.502000 42 62 0 0 0.000319135 0 0 AC096579.13 0 broad.mit.edu 37 2 89156800 89156800 + RNA SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr2:89156800G>A ENST00000452230.1 - 0 39 IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA GTCCCCTGTGGAAAAAGGGTC 0.547000 9 10 0 0 0.000274275 0 0 CHIT1 1118 broad.mit.edu 37 1 203188818 203188818 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr1:203188818C>T ENST00000367229.1 - 8 923 c.889G>A c.(889-891)Gaa>Aaa p.E297K CHIT1_ENST00000255427.3_Missense_Mutation_p.E278K|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.E288K NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 297 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 ATCCCTCCTTCCTTGGTGAAG 0.587000 22 61 0 0 0.000720815 0 0 WFDC8 90199 broad.mit.edu 37 20 44187499 44187499 + Missense_Mutation SNP G G T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr20:44187499G>T ENST00000357199.4 - 3 347 c.269C>A c.(268-270)cCc>cAc p.P90H WFDC8_ENST00000289953.2_Missense_Mutation_p.P90H NM_181510.2 NP_852611.2 Q8IUA0 WFDC8_HUMAN WAP four-disulfide core domain 8 90 WAP 1. extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1) 15 Myeloproliferative disorder(115;0.0122) ACCTTGAAAGGGATCCATGCA 0.502000 63 45 3.09758e-43 7.31731e-42 0.000781405 1 0 DDN 23109 broad.mit.edu 37 12 49392427 49392427 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr12:49392427G>A ENST00000421952.2 - 2 253 c.232C>T c.(232-234)Cca>Tca p.P78S RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 78 dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 GGCGGCTGTGGGGATCCCGGG 0.731000 3 4 0 0 0.000602214 0 0 CCDC102B 79839 broad.mit.edu 37 18 66564491 66564491 + Nonsense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr18:66564491G>A ENST00000360242.5 + 6 1206 c.1089G>A c.(1087-1089)tgG>tgA p.W363* CCDC102B_ENST00000584156.1_Nonsense_Mutation_p.W363*|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Nonsense_Mutation_p.W363*|CCDC102B_ENST00000319445.6_Nonsense_Mutation_p.W363* NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 363 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) CCTCGGAGTGGGACAAGAGGG 0.428000 29 60 0 0 0.00058488 0 0 CSMD1 64478 broad.mit.edu 37 8 2823399 2823399 + Missense_Mutation SNP T T C TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr8:2823399T>C ENST00000520002.1 - 60 9736 c.9181A>G c.(9181-9183)Agc>Ggc p.S3061G CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3060G|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.S3061G Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3061 Sushi 24. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CACTGATAGCTCACAGTCTTG 0.488000 3 22 0 0 6.4e-05 0 0 SKIV2L 6499 broad.mit.edu 37 6 31928049 31928049 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr6:31928049C>T ENST00000375394.2 + 4 402 c.289C>T c.(289-291)Cca>Tca p.P97S SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_Intron NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 97 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 CCTGGGAGCCCCAGTCCCATC 0.522000 93 393 0 0 0.000781405 0 0 TPSB2 64499 broad.mit.edu 37 16 1279726 1279726 + RNA SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr16:1279726G>A ENST00000430512.2 - 0 125 TPSB2_ENST00000445910.1_RNA|TPSB2_ENST00000339687.6_RNA NM_024164.5 NP_077078.5 P20231 TRYB2_HUMAN tryptase beta 2 (gene/pseudogene) proteolysis extracellular region protein binding|serine-type endopeptidase activity lung(1)|upper_aerodigestive_tract(1) 2 Hepatocellular(780;0.00369) TCGCTGCAGGGCCTGGCCTGG 0.706000 6 14 0 0 0.000274275 0 0 BRD2 6046 broad.mit.edu 37 6 32945938 32945938 + Silent SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr6:32945938C>T ENST00000395289.2 + 10 3215 c.1614C>T c.(1612-1614)tcC>tcT p.S538S BRD2_ENST00000449085.2_Silent_p.S491S|BRD2_ENST00000374831.4_Silent_p.S538S|BRD2_ENST00000443797.2_Silent_p.S418S|BRD2_ENST00000395287.1_Silent_p.S538S|BRD2_ENST00000374825.4_Silent_p.S538S P25440 BRD2_HUMAN bromodomain containing 2 538 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CTGCTCTGTCCCAGGGTCCAA 0.418000 18 39 0 0 0.00074312 0 0 GON4L 54856 broad.mit.edu 37 1 155736300 155736300 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr1:155736300G>A ENST00000437809.1 - 21 3086 c.2964C>T c.(2962-2964)ttC>ttT p.F988F GON4L_ENST00000361040.5_Silent_p.F988F|GON4L_ENST00000271883.5_Silent_p.F988F|GON4L_ENST00000368331.1_Silent_p.F988F|GON4L_ENST00000471341.1_5'UTR Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 988 F -> S (in Ref. 1; AAR01262 and 2; CAD97829). regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CCTTCCTGGGGAAACGGGTGG 0.537000 42 56 0 0 0.000319135 0 0 RSG1 79363 broad.mit.edu 37 1 16559022 16559022 + Silent SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr1:16559022C>T ENST00000375599.3 - 4 929 c.510G>A c.(508-510)agG>agA p.R170R NM_030907.3 NP_112169.2 Q9BU20 RSG1_HUMAN REM2 and RAB-like small GTPase 1 170 Small GTPase-like. cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction cilium|microtubule basal body GTP binding large_intestine(2)|lung(2)|pancreas(1)|prostate(1) 6 CGATGACCATCCTGACGACAC 0.597000 12 3 0 0 0.000308642 0 0 FAM46C 54855 broad.mit.edu 37 1 118165657 118165657 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr1:118165657G>A ENST00000369448.3 + 2 414 c.167G>A c.(166-168)cGc>cAc p.R56H NM_017709.3 NP_060179.2 Q5VWP2 FA46C_HUMAN family with sequence similarity 46, member C 56 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) CAGACCGTCCGCAGTCGGCTG 0.567000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 22 27 0 0 0.000229342 0 0 GAPDH 2597 broad.mit.edu 37 12 6647267 6647267 + Splice_Site SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr12:6647267G>A ENST00000229239.5 + 9 1605 c.938_splice c.e9-1 p.W313_splice GAPDH_ENST00000396856.1_Splice_Site_p.W238_splice|GAPDH_ENST00000396859.1_Splice_Site_p.W313_splice|GAPDH_ENST00000396858.1_Splice_Site_p.W271_splice|GAPDH_ENST00000396861.1_Splice_Site_p.W313_splice|RP5-940J5.9_ENST00000602946.1_RNA NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 313 gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) CATCTTCTAGGTATGACAACG 0.567000 OREG0021628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 48 0 0 0.000184323 0 0 GPR137 56834 broad.mit.edu 37 11 64056722 64056722 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr11:64056722C>T ENST00000411458.1 + 9 1341 c.1313C>T c.(1312-1314)cCc>cTc p.P438L GPR137_ENST00000438980.2_3'UTR|GPR137_ENST00000539851.1_3'UTR|GPR137_ENST00000377702.4_3'UTR|GPR137_ENST00000313074.3_Missense_Mutation_p.P380L NM_001170726.1 NP_001164197.1 Q96N19 G137A_HUMAN G protein-coupled receptor 137 380 integral to membrane central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1) 10 CACCCTAGGCCCCTGTGCCAA 0.647000 30 27 0 0 0.000227799 0 0 LINC00842 643650 broad.mit.edu 37 10 47133696 47133696 + RNA SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr10:47133696C>T ENST00000422732.2 - 0 435 NR_033957.1 accaAAGTTTCCAGAACCACT 0.488000 16 19 0 0 0.000422831 0 0 FGF13 2258 broad.mit.edu 37 X 137793186 137793186 + Translation_Start_Site SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chrX:137793186C>T ENST00000315930.6 - 0 641 FGF13_ENST00000541469.1_Intron|FGF13_ENST00000305414.4_Intron|FGF13_ENST00000441825.2_Intron|FGF13_ENST00000370603.3_Intron NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) CCCACCACCACCGCTTCTTTT 0.642000 21 0 0 0 0.000229342 0 0 TXNDC2 84203 broad.mit.edu 37 18 9886764 9886764 + Silent SNP C C A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr18:9886764C>A ENST00000306084.6 + 2 487 c.288C>A c.(286-288)acC>acA p.T96T TXNDC2_ENST00000357775.4_Silent_p.T29T|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Silent_p.T29T|TXNDC2_ENST00000584255.1_3'UTR NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 96 cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 CAGCAAACACCAGCCATCCCA 0.572000 12 18 6.40141e-05 0.00144407 0.000978159 1 0 DMRT3 58524 broad.mit.edu 37 9 990578 990578 + Missense_Mutation SNP G G A rs147923658 TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr9:990578G>A ENST00000190165.2 + 2 1030 c.992G>A c.(991-993)gGa>gAa p.G331E NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 331 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) TGGTCTGTGGGATCAGCCTTT 0.567000 31 5 0 0 0.000227799 0 0 VPRBP 9730 broad.mit.edu 37 3 51450468 51450468 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr3:51450468G>A ENST00000335891.5 - 14 2751 c.2742C>T c.(2740-2742)gaC>gaT p.D914D Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1363 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) CAAGATAGCAGTCTTTGGTGT 0.413000 18 28 0 0 0.000175454 0 0 C17orf104 284071 broad.mit.edu 37 17 42744063 42744063 + Nonsense_Mutation SNP G G T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr17:42744063G>T ENST00000409122.2 + 5 926 c.784G>T c.(784-786)Gaa>Taa p.E262* C17orf104_ENST00000409464.1_Nonsense_Mutation_p.E96*|C17orf104_ENST00000359945.3_Nonsense_Mutation_p.E262* NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 262 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 AACATTCCAAGAATATCCACT 0.363000 18 16 8.00594e-06 0.000182244 0.000958276 1 0 ALDH1A1 216 broad.mit.edu 37 9 75524517 75524517 + Splice_Site SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr9:75524517C>T ENST00000297785.3 - 11 1413 c.e11+1 NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) GTTGGACTTACCACACTGTTC 0.383000 26 38 0 0 0.000586117 0 0 APBB3 10307 broad.mit.edu 37 5 139940274 139940274 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr5:139940274G>A ENST00000357560.4 - 11 1425 c.982C>T c.(982-984)Ccc>Tcc p.P328S APBB3_ENST00000354402.5_Missense_Mutation_p.P335S|APBB3_ENST00000358580.5_Intron|APBB3_ENST00000511201.2_Intron|APBB3_ENST00000412920.3_Missense_Mutation_p.P326S|APBB3_ENST00000356738.2_Missense_Mutation_p.P333S|APBB3_ENST00000508496.2_Missense_Mutation_p.P105S NM_006051.3|NM_133173.2 NP_006042.3|NP_573419.2 O95704 APBB3_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 3 328 PID 2. actin cytoskeleton|cytoplasm endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCATGGTGGGGACCCAGGCA 0.597000 13 15 0 0 0.000308642 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 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 81 39 0 0 0.000781405 0 0 UCKL1 54963 broad.mit.edu 37 20 62576048 62576048 + Missense_Mutation SNP T T A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr20:62576048T>A ENST00000369908.5 - 6 948 c.649A>T c.(649-651)Atc>Ttc p.I217F UCKL1_ENST00000369892.3_Missense_Mutation_p.I232F|UCKL1_ENST00000354216.6_Missense_Mutation_p.I232F|UCKL1_ENST00000358711.3_Missense_Mutation_p.I232F NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 232 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) ACCAGGCGGATGTCGGAGTCT 0.607000 38 36 0 0 0.000781405 0 0 JAM2 58494 broad.mit.edu 37 21 27071173 27071173 + Silent SNP T T C TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr21:27071173T>C ENST00000480456.1 + 5 1129 c.579T>C c.(577-579)aaT>aaC p.N193N JAM2_ENST00000400532.1_Silent_p.N193N|JAM2_ENST00000312957.5_Silent_p.N193N|JAM2_ENST00000425221.2_Silent_p.N157N NM_001270407.1|NM_021219.3 NP_001257336.1|NP_067042.1 P57087 JAM2_HUMAN junctional adhesion molecule 2 193 Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 ACACAATGAATACAAAAACTG 0.373000 14 29 0 0 0.000566183 0 0 FAT4 79633 broad.mit.edu 37 4 126373002 126373002 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr4:126373002C>T ENST00000394329.3 + 9 10844 c.10831C>T c.(10831-10833)Cct>Tct p.P3611S FAT4_ENST00000335110.5_Missense_Mutation_p.P1909S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3611 Cadherin 34. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAATGACAATCCTTCACAGTC 0.428000 35 54 0 0 0.000270559 0 0 OR10T2 128360 broad.mit.edu 37 1 158368474 158368474 + Silent SNP C C T rs145637310 TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr1:158368474C>T ENST00000334438.1 - 1 782 c.783G>A c.(781-783)cgG>cgA p.R261R NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) TGGACTTGGGCCGCAGATAGA 0.512000 11 47 0 0 0.00010058 0 0 RIMBP2 23504 broad.mit.edu 37 12 130898827 130898827 + Missense_Mutation SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr12:130898827G>A ENST00000261655.4 - 14 2658 c.2495C>T c.(2494-2496)tCt>tTt p.S832F NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 832 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GAAGTCTGGAGAAAGGCGGTC 0.577000 36 59 0 0 0.000319135 0 0 RAG1 5896 broad.mit.edu 37 11 36595652 36595652 + Silent SNP C C T rs141654332 by1000genomes TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr11:36595652C>T ENST00000299440.5 + 2 910 c.798C>T c.(796-798)atC>atT p.I266I NM_000448.2 NP_000439.1 P15918 RAG1_HUMAN recombination activating gene 1 266 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 65 all_lung(20;0.226) all_hematologic(20;0.107) TGAAGAAGATCGCCAACTGCA 0.473000 Familial Hemophagocytic Lymphohistiocytosis 5 45 0 0 3.59834e-05 0 0 PRSS36 146547 broad.mit.edu 37 16 31153047 31153047 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr16:31153047C>T ENST00000268281.4 - 11 1814 c.1756G>A c.(1756-1758)Ggt>Agt p.G586S PRSS36_ENST00000418068.2_Missense_Mutation_p.G586S|PRSS36_ENST00000569305.1_Missense_Mutation_p.G581S NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 586 proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 TGCTCACCACCATGCTCTGTG 0.647000 25 23 0 0 0.000227799 0 0 LOXL3 84695 broad.mit.edu 37 2 74763971 74763971 + Silent SNP G G A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr2:74763971G>A ENST00000264094.3 - 5 848 c.777C>T c.(775-777)tcC>tcT p.S259S LOXL3_ENST00000393937.2_Intron|LOXL3_ENST00000409549.1_Silent_p.S259S|LOXL3_ENST00000409986.1_Intron|LOXL3_ENST00000409249.1_Silent_p.S259S NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 259 SRCR 2. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 AGAACTCCAGGGAACAGAGGG 0.662000 21 40 0 0 0.000229342 0 0 RYR2 6262 broad.mit.edu 37 1 237813241 237813241 + Missense_Mutation SNP C C T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr1:237813241C>T ENST00000366574.2 + 50 7894 c.7577C>T c.(7576-7578)cCa>cTa p.P2526L RYR2_ENST00000542537.1_Missense_Mutation_p.P2510L|RYR2_ENST00000360064.6_Missense_Mutation_p.P2524L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2526 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCCGTCTTGCCATTGTTAACA 0.468000 60 148 0 0 0.000781405 0 0 ITPKB 3707 broad.mit.edu 37 1 226924876 226924884 + In_Frame_Del DEL CTGCCGCTG CTGCCGCTG - rs11278152 TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr1:226924876_226924884delCTGCCGCTG ENST00000429204.1 - 2 603_611 c.276_284delCAGCGGCAG c.(274-285)agt>ag p.SSGS92del ITPKB_ENST00000366784.1_In_Frame_Del_p.SSGS92del|ITPKB_ENST00000272117.3_In_Frame_Del_p.SSGS92del NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 92 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GCTCACgctactgccgctgctgccgctgc 0.746 8 13 --- --- --- --- VILL 50853 broad.mit.edu 37 3 38035430 38035431 + Frame_Shift_Ins INS - - T TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr3:38035430_38035431insT ENST00000283713.6 + 3 368_369 c.102_103insT c.(100-105)aattttfs p.NF34fs VILL_ENST00000383759.2_Frame_Shift_Ins_p.NF34fs O15195 VILL_HUMAN villin-like 34 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CTTACGGGAACTTTTTTGAGGA 0.599 40 83 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89693002 89693003 + Frame_Shift_Ins INS - - A TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr10:89693002_89693003insA ENST00000371953.3 + 5 1843_1844 c.486_487insA c.(484-489)gaaaaafs p.EK162fs NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 162 Phosphatase tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K163*(2)|p.Y27fs*1(2)|p.F56fs*2(1)|p.D162fs*8(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGACCAGAGACAAAAAGGTAAG 0.351 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 17 10 --- --- --- --- NLK 51701 broad.mit.edu 37 17 26518151 26518168 + In_Frame_Del DEL TGGAAGAGTTTATACCAG TGGAAGAGTTTATACCAG - TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr17:26518151_26518168delTGGAAGAGTTTATACCAG ENST00000407008.3 + 9 2059_2076 c.1341_1358delTGGAAGAGTTTATACCAG c.(1339-1359)act>ac p.TGRVYTS447del NM_016231.4 NP_057315.3 Q9UBE8 NLK_HUMAN nemo-like kinase 447 intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1) 14 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) CCACCTCCACTGGAAGAGTTTATACCAGTGACTTTGAG 0.445 18 58 --- --- --- --- MIR3648-1 100500862 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 3 4 --- --- --- --- TUBGCP6 85378 broad.mit.edu 37 22 50657854 50657854 + Frame_Shift_Del DEL G G - TCGA-GF-A2C7-01A-11D-A197-08 TCGA-GF-A2C7-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea4af682-faeb-475f-a84c-2b3858620fc6 2f132c4a-f0c8-4b73-b4d8-9aebf13a6911 g.chr22:50657854delG ENST00000439308.2 - 19 4898 c.4406delC c.(4405-4407)cgfs p.P1469fs TUBGCP6_ENST00000248846.5_Frame_Shift_Del_p.P1449fs|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 0 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GGGGAAGCACGGGGCGCAAAA 0.687 2 4 --- --- --- ---