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 WDHD1 11169 broad.mit.edu 37 14 55493492 55493492 + Missense_Mutation SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr14:55493492C>T ENST00000360586.3 - 2 79 c.14G>A c.(13-15)cGg>cAg p.R5Q WDHD1_ENST00000420358.2_Intron|WDHD1_ENST00000421192.1_5'UTR NM_007086.3 NP_009017.1 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 5 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 CATTGGCTTCCGTGTGGCAGG 0.413000 7 132 0 0 0.003080 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716995 142716995 + Silent SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:142716995G>T ENST00000381779.4 - 2 2155 c.1930C>A c.(1930-1932)Cga>Aga p.R644R SLITRK4_ENST00000338017.4_Silent_p.R644R|SLITRK4_ENST00000356928.1_Silent_p.R644R NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 644 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTGTTGCGTCGCAGGACAAAA 0.468000 102 133 5.01286e-43 7.58795e-43 0.014410 1 0 AOC1 26 broad.mit.edu 37 7 150554719 150554719 + Silent SNP C C G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:150554719C>G ENST00000493429.1 + 4 1745 c.1161C>G c.(1159-1161)ccC>ccG p.P387P AOC1_ENST00000467291.1_Silent_p.P387P|AOC1_ENST00000416793.2_Silent_p.P387P|AOC1_ENST00000360937.4_Silent_p.P387P amine oxidase, copper containing 1 AGTTAGCCCCCGGCATCGACT 0.602000 36 45 0 0 0.008740 0 0 CSF2 1437 broad.mit.edu 37 5 131409603 131409603 + Silent SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr5:131409603C>A ENST00000296871.2 + 1 121 c.87C>A c.(85-87)ccC>ccA p.P29P NM_000758.3 NP_000749.2 P04141 CSF2_HUMAN colony stimulating factor 2 (granulocyte-macrophage) 29 immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein extracellular space cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity skin(1) 1 all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Sargramostim(DB00020) GCACGCAGCCCTGGGAGCATG 0.622000 13 4 0.00400662 0.00423667 0.004007 1 0 LOC150776 150776 broad.mit.edu 37 2 132258937 132258937 + RNA SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:132258937C>T ENST00000438378.2 + 0 887 NR_026922.1 CCAGCCACTCCCTGTGTCCCT 0.602000 6 9 0 0 0.004482 0 0 THEM5 284486 broad.mit.edu 37 1 151820329 151820329 + Silent SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:151820329G>T ENST00000368817.5 - 5 716 c.585C>A c.(583-585)ccC>ccA p.P195P AL450992.2_ENST00000434182.1_RNA NM_182578.3 NP_872384.1 Q8N1Q8 THEM5_HUMAN thioesterase superfamily member 5 195 hydrolase activity p.P195P(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) GAGAGTCCACGGGGATCAAGC 0.537000 18 49 2.94398e-08 3.40639e-08 0.007413 1 0 PKD1L1 168507 broad.mit.edu 37 7 47988007 47988007 + Missense_Mutation SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:47988007C>T ENST00000289672.2 - 1 81 c.31G>A c.(31-33)Gat>Aat p.D11N NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 11 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 TCCTGGTCATCAGAAATGTTC 0.443000 24 76 0 0 0.021523 0 0 TSGA13 114960 broad.mit.edu 37 7 130356550 130356550 + Silent SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:130356550G>A ENST00000456951.1 - 8 1460 c.609C>T c.(607-609)taC>taT p.Y203Y TSGA13_ENST00000356588.3_Silent_p.Y203Y Q96PP4 TSG13_HUMAN testis specific, 13 203 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) TGAGCTGAGGGTACATTTTCT 0.423000 38 255 0 0 0.017118 0 0 SLC30A6 55676 broad.mit.edu 37 2 32445602 32445602 + Silent SNP A A C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:32445602A>C ENST00000282587.5 + 14 1243 c.1206A>C c.(1204-1206)ctA>ctC p.L402L SLC30A6_ENST00000379343.2_Silent_p.L442L|SLC30A6_ENST00000357055.3_Silent_p.L205L|SLC30A6_ENST00000538303.1_Silent_p.L373L|SLC30A6_ENST00000435660.1_Silent_p.L379L|SLC30A6_ENST00000406369.1_Silent_p.L328L NM_017964.3 NP_060434.2 Q6NXT4 ZNT6_HUMAN solute carrier family 30 (zinc transporter), member 6 402 Golgi membrane|integral to membrane zinc ion transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TTATTCTTCTAAACACACAAA 0.413000 86 151 0 0 0.014410 0 0 MOV10L1 54456 broad.mit.edu 37 22 50580512 50580512 + Silent SNP T T C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr22:50580512T>C ENST00000262794.5 + 16 2156 c.2073T>C c.(2071-2073)aaT>aaC p.N691N MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.N691N|MOV10L1_ENST00000545383.1_Silent_p.N691N|MOV10L1_ENST00000540615.1_Silent_p.N671N NM_018995.2 NP_061868.1 Q9BXT6 M10L1_HUMAN Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) 691 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) ATTTCTAGAATAGGAAAACAA 0.443000 24 29 0 0 0.018920 0 0 ITIH2 3698 broad.mit.edu 37 10 7763666 7763666 + Missense_Mutation SNP C C T rs144713735 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr10:7763666C>T ENST00000358415.4 + 8 959 c.793C>T c.(793-795)Cgg>Tgg p.R265W ITIH2_ENST00000379587.4_Missense_Mutation_p.R254W NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 265 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CCCTAACTGCCGGGAGACTGC 0.562000 46 36 0 0 0.014410 0 0 NFKB1 4790 broad.mit.edu 37 4 103517299 103517299 + Silent SNP C C G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr4:103517299C>G ENST00000226574.4 + 14 1772 c.1305C>G c.(1303-1305)acC>acG p.T435T NFKB1_ENST00000600343.1_Silent_p.T254T|NFKB1_ENST00000505458.1_Silent_p.T434T|NFKB1_ENST00000394820.4_Silent_p.T434T NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 434 Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) TCTTAGGAACCATGGACACTG 0.353000 53 26 0 0 0.014410 0 0 FLG 2312 broad.mit.edu 37 1 152286011 152286011 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:152286011G>T ENST00000368799.1 - 3 1386 c.1351C>A c.(1351-1353)Caa>Aaa p.Q451K FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 451 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGACTCTTGGTGGCTCTGC 0.577000 Ichthyosis 36 133 3.78316e-11 4.64488e-11 0.006230 1 0 TUBGCP5 114791 broad.mit.edu 37 15 22848330 22848330 + Splice_Site SNP A A T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr15:22848330A>T ENST00000283645.4 + 9 1050 c.921_splice c.e9+1 p.H307_splice TUBGCP5_ENST00000453949.2_Splice_Site_p.H307_splice NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 307 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CATTTAACACATGTAAGTTAT 0.249000 20 26 0 0 0.008871 0 0 MTMR11 10903 broad.mit.edu 37 1 149902342 149902342 + Missense_Mutation SNP C C T rs145659444 byFrequency TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:149902342C>T ENST00000439741.2 - 15 1812 c.1562G>A c.(1561-1563)cGt>cAt p.R521H MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.R449H|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000492824.1_5'UTR NM_001145862.1 NP_001139334.1 A4FU01 MTMRB_HUMAN myotubularin related protein 11 521 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ATTGCTATAACGTAAATCCCA 0.483000 76 395 0 0 0.014410 0 0 HOXB5 3215 broad.mit.edu 37 17 46669781 46669781 + Silent SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr17:46669781C>T ENST00000239151.5 - 2 878 c.600G>A c.(598-600)gcG>gcA p.A200A HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron NM_002147.3 NP_002138.1 P09067 HXB5_HUMAN homeobox B5 200 nucleus sequence-specific DNA binding large_intestine(1)|lung(2) 3 AGCGGGTATACGCGGTCCGGG 0.612000 5 179 0 0 0.001168 0 0 RIF1 55183 broad.mit.edu 37 2 152318776 152318776 + Missense_Mutation SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:152318776A>G ENST00000243326.4 + 27 3731 c.3248A>G c.(3247-3249)tAt>tGt p.Y1083C RIF1_ENST00000430328.2_Missense_Mutation_p.Y1083C|RIF1_ENST00000453091.2_Missense_Mutation_p.Y1083C|RIF1_ENST00000444746.2_Missense_Mutation_p.Y1083C|RIF1_ENST00000428287.2_Missense_Mutation_p.Y1083C Q5UIP0 RIF1_HUMAN RAP1 interacting factor homolog (yeast) 1083 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 97 BRCA - Breast invasive adenocarcinoma(221;0.0429) CCTGCCATGTATAATAATCTG 0.318000 37 26 0 0 0.008740 0 0 CUL1 8454 broad.mit.edu 37 7 148481085 148481085 + Missense_Mutation SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:148481085A>G ENST00000325222.4 + 11 1493 c.1214A>G c.(1213-1215)aAc>aGc p.N405S CUL1_ENST00000409469.1_Missense_Mutation_p.N405S|CUL1_ENST00000602748.1_Missense_Mutation_p.N405S NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 405 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TTCATAAACAACAACGCGGTT 0.468000 20 37 0 0 0.010504 0 0 TRBV4-1 28617 broad.mit.edu 37 7 142013252 142013252 + RNA SNP A A C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:142013252A>C ENST00000390357.3 + 0 136 GGAATGACAAATAAGAAGTCT 0.458000 17 55 0 0 0.004007 0 0 DBX2 440097 broad.mit.edu 37 12 45410235 45410235 + Missense_Mutation SNP T T A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr12:45410235T>A ENST00000332700.6 - 4 1025 c.854A>T c.(853-855)cAg>cTg p.Q285L NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 285 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) ACTTGAGTGCTGTTGGGGGAC 0.507000 50 208 0 0 0.014410 0 0 BZW1 9689 broad.mit.edu 37 2 201683537 201683537 + Silent SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:201683537C>T ENST00000409600.1 + 9 1334 c.879C>T c.(877-879)atC>atT p.I293I BZW1_ENST00000452790.2_Silent_p.I325I|BZW1_ENST00000409226.1_Silent_p.I297I NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 293 W2. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 CAGTTGTCATCGGAATAGTCT 0.378000 38 49 0 0 0.021022 0 0 ARL8A 127829 broad.mit.edu 37 1 202103614 202103614 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:202103614G>A ENST00000272217.2 - 7 710 c.542C>T c.(541-543)tCg>tTg p.S181L NM_001256129.1|NM_138795.3 NP_001243058.1|NP_620150.1 Q96BM9 ARL8A_HUMAN ADP-ribosylation factor-like 8A 181 cell division|chromosome segregation|mitosis|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone alpha-tubulin binding|beta-tubulin binding|GTP binding|GTPase activity large_intestine(1)|lung(2)|ovary(2)|skin(1) 6 CCGTGACTTCGAGTGTTGAAT 0.572000 39 112 0 0 0.011902 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070557 32070557 + RNA SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr16:32070557G>T ENST00000566806.1 - 0 499 TGGTGCAGCTGGTGCAGTCTG 0.587000 27 28 7.88023e-25 1.13086e-24 0.014410 1 0 GJA9 81025 broad.mit.edu 37 1 39341674 39341674 + Nonsense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:39341674G>A ENST00000454994.2 - 2 373 c.97C>T c.(97-99)Cga>Tga p.R33* RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000360786.3_Nonsense_Mutation_p.R33*|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000357771.3_Nonsense_Mutation_p.R33*|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 33 cell communication connexon complex|integral to membrane breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) ACAAGCATTCGAAATATGAAC 0.463000 74 354 0 0 0.014410 0 0 FLG 2312 broad.mit.edu 37 1 152282507 152282507 + Missense_Mutation SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:152282507A>G ENST00000368799.1 - 3 4890 c.4855T>C c.(4855-4857)Tat>Cat p.Y1619H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1619 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCAGATCCATAATGGTTTCTG 0.562000 Ichthyosis 3 103 0 0 0.004672 0 0 HDAC6 10013 broad.mit.edu 37 X 48665048 48665048 + Silent SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:48665048C>T ENST00000334136.5 + 8 745 c.567C>T c.(565-567)ggC>ggT p.G189G HDAC6_ENST00000376619.2_Silent_p.G189G|HDAC6_ENST00000444343.2_Silent_p.G203G|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000413163.2_Silent_p.G134G Q9UBN7 HDAC6_HUMAN histone deacetylase 6 189 Histone deacetylase 1. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) TGGCCTCAGGCTCTGTCCTCA 0.547000 31 102 0 0 0.006999 0 0 SPTBN4 57731 broad.mit.edu 37 19 41019462 41019462 + Splice_Site SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr19:41019462G>T ENST00000352632.3 + 14 2851 c.e14+1 SPTBN4_ENST00000344104.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000598249.1_Splice_Site Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGCAGCACCGGTGAGCGCGCA 0.602000 8 12 0.00448238 0.00469482 0.004482 1 0 ZC3H11A 9877 broad.mit.edu 37 1 203798755 203798755 + Missense_Mutation SNP G G C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:203798755G>C ENST00000545588.1 + 5 4302 c.475G>C c.(475-477)Gct>Cct p.A159P ZC3H11A_ENST00000367210.1_Missense_Mutation_p.A159P|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.A159P|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.A159P|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.A159P NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 159 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) TGTAATTAATGCTGCAGATGA 0.443000 37 228 0 0 0.008740 0 0 TXNIP 10628 broad.mit.edu 37 1 145440088 145440088 + Silent SNP T T C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:145440088T>C ENST00000369317.4 + 4 856 c.522T>C c.(520-522)ccT>ccC p.P174P TXNIP_ENST00000475171.1_Intron NM_006472.3 NP_006463.3 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 174 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 21 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TGTTCATTCCTGATGGGCGGG 0.418000 12 843 0 0 0.016723 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722832 64722832 + Missense_Mutation SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:64722832A>G ENST00000338957.4 + 5 2321 c.2254A>G c.(2254-2256)Atg>Gtg p.M752V ZC3H12B_ENST00000423889.3_Missense_Mutation_p.M741V NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 741 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TAACAGCCTCATGCAACCATG 0.547000 22 31 0 0 0.016522 0 0 WNT6 7475 broad.mit.edu 37 2 219736487 219736487 + Silent SNP A A T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:219736487A>T ENST00000233948.3 + 3 799 c.582A>T c.(580-582)ggA>ggT p.G194G NM_006522.3 NP_006513.1 Q9Y6F9 WNT6_HUMAN wingless-type MMTV integration site family, member 6 194 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity large_intestine(1)|ovary(2)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACAAGCGGGGACGCGGAGACA 0.657000 6 13 0 0 0.004482 0 0 MYO18B 84700 broad.mit.edu 37 22 26164635 26164635 + Missense_Mutation SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr22:26164635C>T ENST00000335473.7 + 4 1002 c.752C>T c.(751-753)aCa>aTa p.T251I MYO18B_ENST00000407587.2_Missense_Mutation_p.T251I|MYO18B_ENST00000536101.1_Missense_Mutation_p.T251I NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 251 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCCAAGACCACAGAGCTGAAA 0.637000 3 21 0 0 0.009096 0 0 GABRG3 2567 broad.mit.edu 37 15 27271912 27271912 + Missense_Mutation SNP G G T rs79497756 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr15:27271912G>T ENST00000333743.6 + 3 468 c.214G>T c.(214-216)Gta>Tta p.V72L GABRG3_ENST00000555083.1_Missense_Mutation_p.V72L NM_033223.4 NP_150092.2 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 3 72 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.V72L(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4) 42 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) AAAACCGACCGTAATTGACGT 0.398000 6 19 0.00198382 0.00212827 0.001984 1 0 MUC17 140453 broad.mit.edu 37 7 100681801 100681801 + Silent SNP T T A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:100681801T>A ENST00000306151.4 + 3 7168 c.7104T>A c.(7102-7104)ccT>ccA p.P2368P NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2368 59 X approximate tandem repeats.|Ser-rich. 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) CCAGCACACCTGTGACTACTT 0.463000 23 41 0 0 0.004656 0 0 WBSCR17 64409 broad.mit.edu 37 7 70800688 70800688 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:70800688G>T ENST00000333538.5 + 2 1025 c.391G>T c.(391-393)Gac>Tac p.D131Y WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 131 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AATTTCACTGGACCGTTCCAT 0.498000 41 51 5.20837e-25 7.5232e-25 0.008740 1 0 SLC11A1 6556 broad.mit.edu 37 2 219255992 219255992 + Silent SNP C C G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:219255992C>G ENST00000233202.6 + 10 1366 c.1026C>G c.(1024-1026)gcC>gcG p.A342A SLC11A1_ENST00000539932.1_Silent_p.A224A NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 342 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCACCGTGGCCGTGGACATTT 0.637000 26 91 0 0 0.010818 0 0 CHAT 1103 broad.mit.edu 37 10 50833700 50833700 + Splice_Site SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr10:50833700G>T ENST00000395562.2 + 7 1156 c.e7+1 CHAT_ENST00000455728.2_Splice_Site|CHAT_ENST00000337653.2_Splice_Site|CHAT_ENST00000339797.1_Splice_Site|CHAT_ENST00000395559.2_Splice_Site|CHAT_ENST00000351556.3_Splice_Site NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CTGCAATCAGGTAAGCAACCC 0.607000 6 2 2.0095e-06 2.25431e-06 0.001984 1 0 SALL4 57167 broad.mit.edu 37 20 50408809 50408809 + Silent SNP C C A rs141479802 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr20:50408809C>A ENST00000217086.4 - 2 324 c.213G>T c.(211-213)acG>acT p.T71T SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Silent_p.T71T|SALL4_ENST00000483130.1_5'UTR NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 71 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CACAGACGTGCGTCTCCTCCC 0.493000 16 63 6.94344e-10 8.16224e-10 0.006122 1 0 CHRM2 1129 broad.mit.edu 37 7 136700194 136700194 + Silent SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:136700194C>A ENST00000445907.2 + 3 1110 c.582C>A c.(580-582)gcC>gcA p.A194A CHRM2_ENST00000401861.1_Silent_p.A194A|CHRM2_ENST00000453373.1_Silent_p.A194A|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Silent_p.A194A|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000402486.3_Silent_p.A194A|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000397608.3_Silent_p.A194A NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 194 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CTATTGCAGCCTTCTATTTGC 0.483000 53 55 6.32628e-17 8.17607e-17 0.014410 1 0 MYOZ1 58529 broad.mit.edu 37 10 75394386 75394386 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr10:75394386C>A ENST00000359322.4 - 4 722 c.358G>T c.(358-360)Ggc>Tgc p.G120C NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 120 Gly-rich. myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) GAGCCACTGCCCCCTGCCTGG 0.642000 12 42 0.000308642 0.000339353 0.003163 1 0 ZAN 7455 broad.mit.edu 37 7 100389686 100389686 + RNA SNP G G C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:100389686G>C ENST00000542585.1 + 0 7773 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCGAGCAACAGCACCCAGGCC 0.672000 5 29 0 0 0.001984 0 0 DAZL 1618 broad.mit.edu 37 3 16640098 16640098 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr3:16640098G>T ENST00000250863.8 - 2 358 c.71C>A c.(70-72)gCa>gAa p.A24E DAZL_ENST00000399444.2_Missense_Mutation_p.A4E NM_001190811.1 NP_001177740.1 Q92904 DAZL_HUMAN deleted in azoospermia-like 4 germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm|nucleus nucleotide binding|protein binding|RNA binding|translation activator activity p.A4E(1) RAF1/DAZL(2) endometrium(1)|large_intestine(3)|lung(4)|prostate(3) 11 TTCAGGATTTGCAGTAGACTG 0.358000 5 100 0.014758 0.0152407 0.014758 1 0 PTPRF 5792 broad.mit.edu 37 1 44069399 44069399 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:44069399G>T ENST00000359947.4 + 16 2916 c.2576G>T c.(2575-2577)cGg>cTg p.R859L PTPRF_ENST00000422171.2_Missense_Mutation_p.R207L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.R850L|PTPRF_ENST00000372413.3_Missense_Mutation_p.R850L|PTPRF_ENST00000372414.3_Missense_Mutation_p.R859L NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 859 Fibronectin type-III 6. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CAGTACTGCCGGGCCGACGAG 0.622000 18 42 8.24728e-16 1.0475e-15 0.004656 1 0 REG1B 5968 broad.mit.edu 37 2 79312722 79312722 + Missense_Mutation SNP C C A rs141167987 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:79312722C>A ENST00000305089.3 - 5 409 c.329G>T c.(328-330)cGc>cTc p.R110L NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 110 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 CCAGTGCCAGCGGCGGTTCTA 0.542000 25 50 5.60225e-13 6.9949e-13 0.009535 1 0 ARNTL2 56938 broad.mit.edu 37 12 27556474 27556474 + Splice_Site SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr12:27556474G>A ENST00000544915.1 + 13 1703 c.1484_splice c.e13+1 p.R495_splice ARNTL2_ENST00000395901.2_Splice_Site_p.R492_splice|ARNTL2_ENST00000266503.5_Splice_Site_p.R529_splice|ARNTL2_ENST00000546179.1_Splice_Site_p.R492_splice|ARNTL2_ENST00000261178.5_Splice_Site_p.R481_splice|ARNTL2_ENST00000542388.1_Splice_Site_p.R444_splice|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000311001.5_Splice_Site_p.R515_splice NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 529 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) GATTTACAGAGGTAATGTTTT 0.313000 19 48 0 0 0.007413 0 0 TAB3 257397 broad.mit.edu 37 X 30877604 30877604 + Splice_Site SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:30877604C>A ENST00000378933.1 - 2 279 c.102_splice c.e2+1 p.Q34_splice TAB3_ENST00000378932.2_Splice_Site_p.Q34_splice|TAB3_ENST00000378930.3_Splice_Site_p.Q34_splice|TAB3_ENST00000288422.2_Splice_Site_p.Q34_splice NM_152787.3 NP_690000.2 Q8N5C8 TAB3_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 3 34 CUE. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1) 27 GGTAACTTACCTGTAACATGC 0.433000 21 50 3.62473e-10 4.28377e-10 0.012319 1 0 MYOCD 93649 broad.mit.edu 37 17 12642628 12642628 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr17:12642628G>A ENST00000425538.1 + 7 900 c.700G>A c.(700-702)Gtg>Atg p.V234M MYOCD_ENST00000395988.1_Missense_Mutation_p.V138M|MYOCD_ENST00000343344.4_Missense_Mutation_p.V234M NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 234 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCCCATAGCCGTGCATGCTGC 0.587000 3 32 0 0 0.004672 0 0 GIPR 2696 broad.mit.edu 37 19 46184989 46184989 + Silent SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr19:46184989G>T ENST00000590918.1 + 14 1296 c.1197G>T c.(1195-1197)gtG>gtT p.V399V GIPR_ENST00000263281.3_3'UTR|GIPR_ENST00000304207.8_Silent_p.V363V NM_000164.2 NP_000155.1 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 399 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 12 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) TCTCACAGGTGCAGTCGGAGA 0.736000 15 5 7.01153e-11 8.46748e-11 0.007291 1 0 NOMO1 23420 broad.mit.edu 37 16 14970223 14970223 + Silent SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr16:14970223C>T ENST00000287667.7 + 21 2535 c.2364C>T c.(2362-2364)tgC>tgT p.C788C NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 788 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TAGAAAGCTGCCCAGGGAAGC 0.502000 5 212 0 0 0.001168 0 0 ELN 2006 broad.mit.edu 37 7 73474365 73474365 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:73474365G>A ENST00000252034.7 + 23 1963 c.1564G>A c.(1564-1566)Ggt>Agt p.G522S ELN_ENST00000357036.5_Missense_Mutation_p.G527S|ELN_ENST00000380584.4_Missense_Mutation_p.G489S|ELN_ENST00000358929.4_Missense_Mutation_p.G557S|ELN_ENST00000380576.5_Missense_Mutation_p.G503S|ELN_ENST00000380575.4_Missense_Mutation_p.G493S|ELN_ENST00000414324.1_Missense_Mutation_p.G498S|ELN_ENST00000380553.4_Missense_Mutation_p.G386S|ELN_ENST00000380562.4_Missense_Mutation_p.G528S|ELN_ENST00000458204.1_Missense_Mutation_p.G512S|ELN_ENST00000445912.1_Missense_Mutation_p.G522S|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Missense_Mutation_p.G508S|ELN_ENST00000320399.6_Missense_Mutation_p.G522S|ELN_ENST00000320492.7_Missense_Mutation_p.G441S NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 551 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CATTGGCCCTGGTGGAGTTGC 0.642000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 3 74 0 0 0.004672 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649284 75649284 + Missense_Mutation SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:75649284C>T ENST00000361470.2 + 1 1239 c.961C>T c.(961-963)Ccg>Tcg p.P321S NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 321 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CACCTCCGTGCCGCCCACCCC 0.711000 5 12 0 0 0.014758 0 0 CLRN1 7401 broad.mit.edu 37 3 150690460 150690460 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr3:150690460C>A ENST00000327047.1 - 1 326 c.36G>T c.(34-36)atG>atT p.M12I CLRN1-AS1_ENST00000476886.1_RNA|CLRN1_ENST00000328863.4_Missense_Mutation_p.M12I|RP11-166N6.2_ENST00000469268.1_RNA NM_174878.2 NP_777367.1 P58418 CLRN1_HUMAN clarin 1 12 equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound integral to membrane autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) ACACTCCGGCCATGCAAAAAA 0.507000 43 131 8.86878e-18 1.17365e-17 0.014410 1 0 CELSR1 9620 broad.mit.edu 37 22 46780524 46780524 + Missense_Mutation SNP C C A rs149238203 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr22:46780524C>A ENST00000262738.3 - 20 6798 c.6799G>T c.(6799-6801)Gac>Tac p.D2267Y NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2267 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TGGATGGTGTCGAATCGCGGG 0.522000 5 13 5.18039e-06 5.78215e-06 0.003080 1 0 ARID5B 84159 broad.mit.edu 37 10 63852047 63852047 + Missense_Mutation SNP T T G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr10:63852047T>G ENST00000279873.7 + 10 3235 c.2825T>G c.(2824-2826)gTc>gGc p.V942G ARID5B_ENST00000309334.5_Missense_Mutation_p.V699G NM_032199.2 NP_115575.1 Q14865 ARI5B_HUMAN AT rich interactive domain 5B (MRF1-like) 942 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CAGTTCCAGGTCTTAGGCAGC 0.562000 50 212 0 0 0.014410 0 0 COLEC12 81035 broad.mit.edu 37 18 346516 346516 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr18:346516G>T ENST00000400256.3 - 5 1313 c.1106C>A c.(1105-1107)aCc>aAc p.T369N NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 369 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) TGTGCAAGTGGTCCTGACTTC 0.458000 41 56 2.95478e-19 4.00617e-19 0.008740 1 0 MECOM 2122 broad.mit.edu 37 3 168833655 168833655 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr3:168833655C>A ENST00000464456.1 - 7 2641 c.1441G>T c.(1441-1443)Gct>Tct p.A481S MECOM_ENST00000433243.2_Missense_Mutation_p.A482S|MECOM_ENST00000392736.3_Missense_Mutation_p.A481S|MECOM_ENST00000264674.3_Missense_Mutation_p.A546S|MECOM_ENST00000472280.1_Missense_Mutation_p.A482S|MECOM_ENST00000468789.1_Missense_Mutation_p.A481S|MECOM_ENST00000494292.1_Missense_Mutation_p.A669S|MECOM_ENST00000460814.1_Missense_Mutation_p.A481S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TATTTTTCAGCAATAGAAGCA 0.428000 66 247 2.03967e-17 2.66726e-17 0.014410 1 0 TRIM71 131405 broad.mit.edu 37 3 32933252 32933252 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr3:32933252C>A ENST00000383763.4 + 4 2619 c.2556C>A c.(2554-2556)gaC>gaA p.D852E NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 852 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCACCCCCGACGGAATGATCG 0.532000 46 18 1.81118e-26 2.6508e-26 0.014410 1 0 CALCR 799 broad.mit.edu 37 7 93065484 93065484 + Splice_Site SNP T T C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:93065484T>C ENST00000359558.2 - 14 1332 c.e14-2 CALCR_ENST00000394441.1_Splice_Site|CALCR_ENST00000360249.4_Splice_Site|CALCR_ENST00000426151.1_Splice_Site|CALCR_ENST00000421592.1_Splice_Site NM_001164737.1 NP_001158209.1 P30988 CALCR_HUMAN calcitonin receptor activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin receptor activity|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3) 45 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GAAATTGACCTGCAAATATAC 0.403000 34 32 0 0 0.019004 0 0 RSPRY1 89970 broad.mit.edu 37 16 57261339 57261339 + Missense_Mutation SNP C C G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr16:57261339C>G ENST00000537866.1 + 11 2120 c.1247C>G c.(1246-1248)cCt>cGt p.P416R RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Missense_Mutation_p.P416R Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 416 B30.2/SPRY. extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 AGAAGTAAGCCTCACATACAC 0.433000 7 40 0 0 0.001984 0 0 NAV2 89797 broad.mit.edu 37 11 19970595 19970595 + Missense_Mutation SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr11:19970595A>G ENST00000396085.1 + 10 2975 c.2614A>G c.(2614-2616)Aag>Gag p.K872E NAV2_ENST00000540292.1_Missense_Mutation_p.K826E|NAV2_ENST00000527559.2_Missense_Mutation_p.K824E|NAV2_ENST00000349880.4_Missense_Mutation_p.K872E|NAV2_ENST00000396087.3_Missense_Mutation_p.K895E|NAV2_ENST00000360655.4_Missense_Mutation_p.K808E NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 895 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TGTTCTGAGCAAGAACATCCG 0.572000 35 34 0 0 0.011902 0 0 AHNAK2 113146 broad.mit.edu 37 14 105414449 105414449 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr14:105414449G>T ENST00000333244.5 - 7 7458 c.7339C>A c.(7339-7341)Ccc>Acc p.P2447T AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2447 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCACGCTGGGCTGAGACACC 0.627000 18 16 5.03518e-11 6.11415e-11 0.007413 1 0 ARSF 416 broad.mit.edu 37 X 3002623 3002623 + Missense_Mutation SNP G G T rs148764513 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:3002623G>T ENST00000381127.1 + 6 967 c.746G>T c.(745-747)cGg>cTg p.R249L ARSF_ENST00000359361.2_Missense_Mutation_p.R249L|ARSF_ENST00000537104.1_Missense_Mutation_p.R249L NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 249 extracellular region arylsulfatase activity|metal ion binding p.R249P(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTCCTCATGCGGGGGCACGAG 0.493000 26 41 3.73988e-18 4.979e-18 0.006320 1 0 EMILIN1 11117 broad.mit.edu 37 2 27303041 27303041 + Missense_Mutation SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:27303041A>G ENST00000380320.4 + 2 692 c.193A>G c.(193-195)Acc>Gcc p.T65A NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 65 EMI. cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTACGTGGTGACCCGGACAGT 0.597000 38 42 0 0 0.006999 0 0 PAPSS2 9060 broad.mit.edu 37 10 89505590 89505590 + Splice_Site SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr10:89505590C>T ENST00000361175.4 + 12 2077 c.1706_splice c.e12-1 p.H570_splice PAPSS2_ENST00000427144.2_Splice_Site_p.H574_splice|PAPSS2_ENST00000456849.1_Splice_Site_p.H575_splice NM_004670.3 NP_004661.2 O95340 PAPS2_HUMAN 3'-phosphoadenosine 5'-phosphosulfate synthase 2 570 3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process cytosol adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 20 Melanoma(5;0.019)|Colorectal(252;0.123) UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124) CTGTAACAGGCACAATGAGTT 0.478000 22 23 0 0 0.016522 0 0 SOX3 6658 broad.mit.edu 37 X 139586817 139586817 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:139586817C>A ENST00000370536.2 - 1 408 c.409G>T c.(409-411)Gac>Tac p.D137Y NM_005634.2 NP_005625.2 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 137 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) TTCACACGGTCCTGGTCTGTA 0.662000 25 40 1.16021e-09 1.34951e-09 0.007291 1 0 GBA 2629 broad.mit.edu 37 1 155208062 155208062 + Silent SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:155208062C>T ENST00000428024.2 - 5 865 c.363G>A c.(361-363)caG>caA p.Q121Q GBA_ENST00000493842.1_5'UTR|GBA_ENST00000427500.2_Silent_p.Q159Q|GBA_ENST00000536770.1_Silent_p.Q95Q|GBA_ENST00000368373.3_Silent_p.Q208Q|GBA_ENST00000327247.5_Silent_p.Q208Q NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosidase, beta, acid 208 carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction lysosomal lumen|lysosomal membrane cation binding|glucosylceramidase activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 26 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) Alglucerase(DB00088)|Imiglucerase(DB00053) AAACGGGACGCTGGGCCAACT 0.572000 Gaucher disease type I 9 45 0 0 0.006214 0 0 ACKR3 57007 broad.mit.edu 37 2 237490078 237490078 + Missense_Mutation SNP T T C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:237490078T>C ENST00000272928.3 + 2 1280 c.970T>C c.(970-972)Tac>Cac p.Y324H NM_020311.2 NP_064707.1 atypical chemokine receptor 3 CAACTACAGGTACGAGCTGAT 0.557000 15 47 0 0 0.004990 0 0 TMEM87A 25963 broad.mit.edu 37 15 42520945 42520945 + Missense_Mutation SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr15:42520945C>T ENST00000389834.4 - 13 1469 c.1205G>A c.(1204-1206)cGg>cAg p.R402Q TMEM87A_ENST00000448392.1_Missense_Mutation_p.R341Q NM_015497.3 NP_056312.2 Q8NBN3 TM87A_HUMAN transmembrane protein 87A 402 integral to membrane breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;1.03e-06) GGTGAAATGCCGATACAAAGA 0.383000 5 193 0 0 0.001984 0 0 CACNG6 59285 broad.mit.edu 37 19 54496139 54496139 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr19:54496139G>T ENST00000252729.2 + 1 598 c.8G>T c.(7-9)tGg>tTg p.W3L CACNG6_ENST00000352529.1_Missense_Mutation_p.W3L|CACNG6_ENST00000346968.2_Missense_Mutation_p.W3L NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 3 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) AAGATGATGTGGTCCAACTTC 0.741000 19 57 3.69857e-22 5.10864e-22 0.008361 1 0 NUP93 9688 broad.mit.edu 37 16 56866268 56866268 + Missense_Mutation SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr16:56866268C>T ENST00000564887.1 + 10 1573 c.944C>T c.(943-945)tCa>tTa p.S315L NUP93_ENST00000569842.1_Missense_Mutation_p.S438L|NUP93_ENST00000542526.1_Missense_Mutation_p.S315L|NUP93_ENST00000308159.5_Missense_Mutation_p.S438L NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 438 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CTCACTCTCTCACAGTTCCAG 0.453000 10 186 0 0 0.010729 0 0 C3orf36 80111 broad.mit.edu 37 3 133647605 133647605 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr3:133647605G>A ENST00000408895.2 - 1 1051 c.43C>T c.(43-45)Ccc>Tcc p.P15S NM_025041.2 NP_079317.2 Q3SXR2 CC036_HUMAN chromosome 3 open reading frame 36 15 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 6 ACAGCCTGGGGTAAGCCAGCC 0.637000 7 131 0 0 0.008291 0 0 IRS4 8471 broad.mit.edu 37 X 107978335 107978335 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:107978335G>T ENST00000372129.2 - 1 1316 c.1240C>A c.(1240-1242)Ctg>Atg p.L414M NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 414 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GGCAGGTGCAGTCTTCCTCGC 0.652000 18 36 4.63292e-17 6.0228e-17 0.008871 1 0 ZNF667 63934 broad.mit.edu 37 19 56973727 56973727 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr19:56973727G>A ENST00000591790.1 - 2 1441 c.13C>T c.(13-15)Cgg>Tgg p.R5W ZNF667_ENST00000342634.3_Missense_Mutation_p.R98W|ZNF667_ENST00000504904.3_Missense_Mutation_p.R5W|ZNF667_ENST00000292069.6_Missense_Mutation_p.R5W Q5HYK9 ZN667_HUMAN zinc finger protein 667 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R5R(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GATTTCCCCCGTGCAGAAGGC 0.542000 103 304 0 0 0.014410 0 0 EYA3 2140 broad.mit.edu 37 1 28319944 28319944 + Missense_Mutation SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:28319944C>T ENST00000373871.3 - 14 1510 c.1270G>A c.(1270-1272)Gaa>Aaa p.E424K EYA3_ENST00000373864.1_Missense_Mutation_p.E267K|EYA3_ENST00000545175.1_Missense_Mutation_p.E371K|EYA3_ENST00000540618.1_Missense_Mutation_p.E378K|EYA3_ENST00000373863.3_Missense_Mutation_p.E378K|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_Missense_Mutation_p.E298K Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) 424 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) TCATAGATTTCTCTCACTTTC 0.483000 11 130 0 0 0.020292 0 0 RAC2 5880 broad.mit.edu 37 22 37627429 37627429 + Splice_Site SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr22:37627429C>T ENST00000249071.6 - 5 411 c.288_splice c.e5-1 p.W97_splice RAC2_ENST00000406508.1_Splice_Site_p.W53_splice|RAC2_ENST00000405484.1_Splice_Site_p.W90_splice NM_002872.3 NP_002863.1 P15153 RAC2_HUMAN ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 97 axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 12 TTCTGGGAACCACTGGGCAGG 0.627000 8 15 0 0 0.003080 0 0 GAD1 2571 broad.mit.edu 37 2 171687701 171687701 + Splice_Site SNP A A T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:171687701A>T ENST00000358196.3 + 5 1096 c.547_splice c.e5+1 p.T182_splice GAD1_ENST00000344257.5_Splice_Site_p.T182_splice|GAD1_ENST00000375272.1_Splice_Site_p.T182_splice|GAD1_ENST00000429023.1_3'UTR NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 182 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGGTTCGCACAGGTAAGGAGG 0.522000 38 47 0 0 0.008740 0 0 LVRN 206338 broad.mit.edu 37 5 115350954 115350954 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr5:115350954C>A ENST00000357872.4 + 17 2580 c.2456C>A c.(2455-2457)cCt>cAt p.P819H AQPEP_ENST00000515454.1_3'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 819 proteolysis integral to membrane metallopeptidase activity|zinc ion binding TACAGAATACCTTATCCAATT 0.264000 26 8 8.24728e-16 1.0475e-15 0.004656 1 0 TRAPPC9 83696 broad.mit.edu 37 8 141310603 141310603 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr8:141310603G>A ENST00000389328.4 - 11 2041 c.2027C>T c.(2026-2028)gCa>gTa p.A676V TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A569V|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.A578V NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 578 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 ACGGTTGTGTGCGATAATTGG 0.478000 54 194 0 0 0.014410 0 0 OR6M1 390261 broad.mit.edu 37 11 123676277 123676277 + Missense_Mutation SNP G G C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr11:123676277G>C ENST00000309154.2 - 1 818 c.781C>G c.(781-783)Cag>Gag p.Q261E NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) GAGGAGTTCTGATTGGGTCTC 0.502000 52 82 0 0 0.014410 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022505 51022505 + Silent SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr19:51022505C>T ENST00000599957.1 - 3 662 c.465G>A c.(463-465)gaG>gaA p.E155E LRRC4B_ENST00000389201.3_Silent_p.E155E Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 155 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) TGGACAGGTACTCGAAGGCCT 0.657000 26 59 0 0 0.010818 0 0 AP2M1 1173 broad.mit.edu 37 3 183897989 183897989 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr3:183897989G>A ENST00000382456.3 + 4 687 c.373G>A c.(373-375)Gag>Aag p.E125K EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Missense_Mutation_p.E125K|AP2M1_ENST00000292807.5_Missense_Mutation_p.E125K|AP2M1_ENST00000411763.2_Missense_Mutation_p.E150K NM_001025205.1 NP_001020376.1 Q96CW1 AP2M1_HUMAN adaptor-related protein complex 2, mu 1 subunit 125 axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane lipid binding|protein binding|transporter activity endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 18 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACAGAATTCCGAGACAGGCGC 0.512000 5 28 0 0 0.001984 0 0 KIF2B 84643 broad.mit.edu 37 17 51901864 51901864 + Silent SNP T T A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr17:51901864T>A ENST00000268919.4 + 1 1626 c.1470T>A c.(1468-1470)ccT>ccA p.P490P NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 490 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGAACAAGCCTCACACCCCAT 0.527000 38 71 0 0 0.007835 0 0 UBQLNL 143630 broad.mit.edu 37 11 5536962 5536962 + Missense_Mutation SNP T T C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr11:5536962T>C ENST00000380184.1 - 1 973 c.710A>G c.(709-711)gAg>gGg p.E237G HBG2_ENST00000380259.2_Intron NM_145053.4 NP_659490.4 Q8IYU4 UBQLN_HUMAN ubiquilin-like 237 endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136) CTGCATTATCTCTTGGATCAT 0.473000 4 211 0 0 0.009096 0 0 RB1 5925 broad.mit.edu 37 13 48941648 48941648 + Nonsense_Mutation SNP C C T rs121913300 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr13:48941648C>T ENST00000267163.4 + 10 1096 c.958C>T c.(958-960)Cga>Tga p.R320* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 320 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.R320*(11)|p.?(7) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTTTCTAAACGATACGAAGA 0.313000 R320*(GMS10_CENTRAL_NERVOUS_SYSTEM)|R320*(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM) 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 37 14 0 0 0.017118 0 0 SLC18A3 6572 broad.mit.edu 37 10 50818821 50818821 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr10:50818821C>A ENST00000374115.3 + 1 475 c.35C>A c.(34-36)gCg>gAg p.A12E CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 12 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 CAGGCCCGGGCGGCGGCCACC 0.731000 3 1 0.00909568 0.0094373 0.009096 1 0 OR5L1 219437 broad.mit.edu 37 11 55579435 55579435 + Missense_Mutation SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr11:55579435A>G ENST00000333973.2 + 1 582 c.493A>G c.(493-495)Agg>Ggg p.R165G NM_001004738.1 NP_001004738.1 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, member 1 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3) 78 all_epithelial(135;0.208) CTTAGCTCTTAGGATCCCCTT 0.443000 136 172 0 0 0.014410 0 0 GJA9 81025 broad.mit.edu 37 1 39340384 39340384 + Missense_Mutation SNP G G C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:39340384G>C ENST00000357771.3 - 2 1667 c.1387C>G c.(1387-1389)Caa>Gaa p.Q463E RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000454994.2_Intron|GJA9_ENST00000360786.3_Missense_Mutation_p.Q463E|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR NM_030772.4 NP_110399.2 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 463 cell communication connexon complex|integral to membrane breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) TCAAGTGATTGAGAATCTCCT 0.478000 17 114 0 0 0.004990 0 0 MDH1B 130752 broad.mit.edu 37 2 207621750 207621750 + Silent SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:207621750G>A ENST00000374412.3 - 4 560 c.285C>T c.(283-285)gtC>gtT p.V95V MDH1B_ENST00000392214.2_Silent_p.V95V|MDH1B_ENST00000454776.2_Silent_p.V95V|MDH1B_ENST00000449792.1_5'UTR NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 95 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) TGCTAGAGGTGACATCATAAT 0.368000 5 238 0 0 0.001168 0 0 TUBB8 347688 broad.mit.edu 37 10 93941 93941 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr10:93941G>T ENST00000447903.2 - 4 490 c.175C>A c.(175-177)Cag>Aag p.Q59K TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.Q131K Q3ZCM7 TBB8_HUMAN tubulin, beta 8 class VIII 131 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1) 32 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) TGGAAACCCTGCAGGCAGTCA 0.592000 8 35 1.08611e-07 1.24368e-07 0.010729 1 0 COL25A1 84570 broad.mit.edu 37 4 109784494 109784494 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr4:109784494G>A ENST00000399132.1 - 21 1663 c.1133C>T c.(1132-1134)cCt>cTt p.P378L COL25A1_ENST00000399126.1_Missense_Mutation_p.P378L|COL25A1_ENST00000399127.1_Missense_Mutation_p.P374L NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 378 Collagen-like 5. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GGGGGCTCCAGGTTCCCCTCG 0.478000 21 8 0 0 0.010504 0 0 PTH 5741 broad.mit.edu 37 11 13513995 13513995 + Missense_Mutation SNP T T C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr11:13513995T>C ENST00000282091.1 - 3 419 c.305A>G c.(304-306)gAc>gGc p.D102G PTH_ENST00000529816.1_Missense_Mutation_p.D102G NM_000315.2 NP_000306.1 P01270 PTHY_HUMAN parathyroid hormone 102 bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) ATCAGCTTTGTCTGCCTCTCC 0.438000 15 52 0 0 0.010504 0 0 NRIP3 56675 broad.mit.edu 37 11 9007341 9007341 + Missense_Mutation SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr11:9007341C>T ENST00000309166.3 - 4 592 c.479G>A c.(478-480)cGg>cAg p.R160Q NRIP3_ENST00000531090.1_Intron NM_020645.2 NP_065696.1 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 160 proteolysis aspartic-type endopeptidase activity large_intestine(1)|lung(4)|skin(1)|stomach(1) 7 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) TTTGAGATGCCGGGGTAGAGA 0.512000 5 194 0 0 0.014758 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89103938 89103938 + RNA SNP T T A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:89103938T>A ENST00000393525.3 + 0 4412 TAAGATGTACTAAGGGGATGG 0.323000 11 17 0 0 0.016723 0 0 APBB1IP 54518 broad.mit.edu 37 10 26800771 26800771 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr10:26800771G>T ENST00000376236.4 + 7 1082 c.627G>T c.(625-627)gaG>gaT p.E209D NM_019043.3 NP_061916.3 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 209 Ras-associating. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1) 45 ACCTTTTCGAGAAAACTCATT 0.478000 27 92 3.73988e-18 4.979e-18 0.006320 1 0 VPS13A 23230 broad.mit.edu 37 9 79929509 79929509 + Silent SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr9:79929509A>G ENST00000360280.3 + 37 4601 c.4341A>G c.(4339-4341)acA>acG p.T1447T VPS13A_ENST00000357409.5_Silent_p.T1447T|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.T1447T|VPS13A_ENST00000376636.3_Silent_p.T1408T NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1447 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ATGGCTCAACATTTTCTTCCT 0.318000 34 65 0 0 0.013726 0 0 ABCC12 94160 broad.mit.edu 37 16 48162431 48162431 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr16:48162431G>A ENST00000311303.3 - 9 1799 c.1454C>T c.(1453-1455)cCa>cTa p.P485L ABCC12_ENST00000416054.1_Missense_Mutation_p.P485L|ABCC12_ENST00000448542.1_Missense_Mutation_p.P485L NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 485 ABC transporter 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TTGCTCCTCTGGGCCAGTGGC 0.527000 18 211 0 0 0.006320 0 0 SHROOM3 57619 broad.mit.edu 37 4 77675663 77675663 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr4:77675663G>T ENST00000296043.6 + 7 4980 c.4027G>T c.(4027-4029)Gtc>Ttc p.V1343F NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1343 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) GCAAGGGCTGGTCACAGACAC 0.617000 56 8 8.77104e-35 1.31864e-34 0.014410 1 0 POLG 5428 broad.mit.edu 37 15 89865209 89865209 + Missense_Mutation SNP G G C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr15:89865209G>C ENST00000268124.5 - 15 2797 c.2464C>G c.(2464-2466)Ccc>Gcc p.P822A POLG_ENST00000442287.2_Missense_Mutation_p.P822A NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 822 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) ACAGCACGGGGCAGAGCTGAC 0.577000 DNA polymerases (catalytic subunits) 32 38 0 0 0.012213 0 0 BATF2 116071 broad.mit.edu 37 11 64756651 64756651 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr11:64756651G>A ENST00000301887.4 - 3 905 c.775C>T c.(775-777)Cac>Tac p.H259Y BATF2_ENST00000527716.1_Missense_Mutation_p.H235Y|BATF2_ENST00000435842.2_Missense_Mutation_p.H174Y NM_138456.3 NP_612465.3 Q8N1L9 BATF2_HUMAN basic leucine zipper transcription factor, ATF-like 2 259 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1) 9 AGGAGAGGGTGAGGGCTGGGA 0.612000 16 79 0 0 0.004007 0 0 XIAP 331 broad.mit.edu 37 X 123019558 123019558 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:123019558G>T ENST00000371199.3 + 2 345 c.46G>T c.(46-48)Gac>Tac p.D16Y XIAP_ENST00000434753.3_Missense_Mutation_p.D16Y|XIAP_ENST00000355640.3_Missense_Mutation_p.D16Y|XIAP_ENST00000468691.1_Intron NM_001167.3 NP_001158.2 P98170 XIAP_HUMAN X-linked inhibitor of apoptosis 16 anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3) 25 TGTACCTGCAGACATCAATAA 0.333000 X-linked Lymphoproliferative syndrome 18 53 5.03518e-11 6.11415e-11 0.007413 1 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338714 13338714 + RNA SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr4:13338714C>A ENST00000602906.1 + 0 502 kidney(3)|lung(1) 4 AGTGGAGAAGCACTCTCAGTT 0.448000 34 15 1.30998e-17 1.72325e-17 0.005524 1 0 FRG1B 284802 broad.mit.edu 37 20 29624058 29624058 + Nonsense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr20:29624058G>T ENST00000278882.3 + 4 462 c.82G>T c.(82-84)Gag>Tag p.E28* FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E33*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E28* endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGTCCTCCAGAGCAGTTTAT 0.264000 6 13 0.00307968 0.00328797 0.003080 1 0 TM2D3 80213 broad.mit.edu 37 15 102182750 102182750 + Missense_Mutation SNP T T C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr15:102182750T>C ENST00000561373.1 - 4 1037 c.481A>G c.(481-483)Acg>Gcg p.T161A TM2D3_ENST00000347970.3_Missense_Mutation_p.T200A|TM2D3_ENST00000559107.1_Intron|TM2D3_ENST00000428002.2_Intron|TM2D3_ENST00000333202.3_Missense_Mutation_p.T226A Q9BRN9 TM2D3_HUMAN TM2 domain containing 3 226 integral to membrane central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1) 10 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCTATCAGCGTCCATATTCCC 0.562000 3 64 0 0 0.004672 0 0 OR56A4 120793 broad.mit.edu 37 11 6023456 6023456 + Missense_Mutation SNP G G C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr11:6023456G>C ENST00000330728.4 - 1 968 c.923C>G c.(922-924)aCa>aGa p.T308R NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGCAGGACTGTGCTGAAGAA 0.527000 33 25 0 0 0.013726 0 0 MUC6 4588 broad.mit.edu 37 11 1017909 1017909 + Missense_Mutation SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr11:1017909A>G ENST00000421673.2 - 31 4942 c.4892T>C c.(4891-4893)gTc>gCc p.V1631A NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 1631 Approximate repeats.|Pro-rich.|Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGGGGTGATGACTGTGTGAGT 0.557000 5 80 0 0 0.001984 0 0 IRX2 153572 broad.mit.edu 37 5 2749503 2749503 + Silent SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr5:2749503C>T ENST00000382611.6 - 2 896 c.648G>A c.(646-648)gaG>gaA p.E216E IRX2_ENST00000302057.5_Silent_p.E216E|IRX2_ENST00000502957.1_5'UTR NM_001134222.1 NP_001127694.1 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 216 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2) 26 GBM - Glioblastoma multiforme(108;0.204) CACCTTCGTCCTCTGCCGAGG 0.672000 5 70 0 0 0.001168 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14851554 14851554 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr18:14851554G>T ENST00000358984.4 + 36 3434 c.3254G>T c.(3253-3255)tGc>tTc p.C1085F NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 1170 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 CATGAAAATTGCATGTTGAAA 0.308000 9 6 0.000274275 0.000303074 0.004482 1 0 TBX10 347853 broad.mit.edu 37 11 67402588 67402588 + Missense_Mutation SNP G G A rs147388176 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr11:67402588G>A ENST00000335385.3 - 2 241 c.154C>T c.(154-156)Ccc>Tcc p.P52S NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 52 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 TGCCCAGTGGGCTCGGCCACA 0.627000 13 16 0 0 0.020292 0 0 PIM2 11040 broad.mit.edu 37 X 48771550 48771550 + Missense_Mutation SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:48771550C>T ENST00000376509.4 - 6 983 c.794G>A c.(793-795)cGg>cAg p.R265Q PIM2_ENST00000485431.1_5'UTR NM_006875.3 NP_006866.2 Q9P1W9 PIM2_HUMAN pim-2 oncogene 265 Protein kinase. anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus ATP binding|protein serine/threonine kinase activity lung(3)|stomach(1) 4 GGCCAGGCACCGGCGGATTAG 0.592000 7 24 0 0 0.004482 0 0 DUSP27 92235 broad.mit.edu 37 1 167086710 167086710 + Missense_Mutation SNP C C A rs146625016 byFrequency TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:167086710C>A ENST00000361200.2 + 4 517 c.351C>A c.(349-351)gaC>gaA p.D117E DUSP27_ENST00000443333.1_Missense_Mutation_p.D117E|DUSP27_ENST00000271385.5_Missense_Mutation_p.D117E Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 117 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GTGTCCTGGACCTACAGCGGG 0.572000 10 11 2.27111e-07 2.58719e-07 0.013537 1 0 ATP10D 57205 broad.mit.edu 37 4 47527626 47527626 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr4:47527626C>A ENST00000273859.3 + 5 1012 c.743C>A c.(742-744)cCa>cAa p.P248Q ATP10D_ENST00000504445.1_Missense_Mutation_p.P248Q NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 248 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TGTGAAAGCCCAAACAATGAC 0.368000 20 45 1.87028e-06 2.10884e-06 0.012319 1 0 CDC42EP1 11135 broad.mit.edu 37 22 37964470 37964470 + Silent SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr22:37964470C>T ENST00000249014.4 + 3 1239 c.819C>T c.(817-819)ccC>ccT p.P273P NM_152243.2 NP_689449.1 Q00587 BORG5_HUMAN CDC42 effector protein (Rho GTPase binding) 1 273 8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG]. positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) CTGCAAATCCCCCAGCCCCTG 0.657000 3 5 0 0 0.014758 0 0 ZNF468 90333 broad.mit.edu 37 19 53344722 53344722 + Silent SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr19:53344722C>T ENST00000595646.1 - 4 945 c.825G>A c.(823-825)gaG>gaA p.E275E ZNF468_ENST00000396409.4_Silent_p.E222E|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Silent_p.E222E|ZNF468_ENST00000243639.4_3'UTR Q5VIY5 ZN468_HUMAN zinc finger protein 468 275 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TCTTGCCACACTCATTACACT 0.403000 21 219 0 0 0.004656 0 0 ZAN 7455 broad.mit.edu 37 7 100389676 100389676 + RNA SNP G G C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:100389676G>C ENST00000542585.1 + 0 7763 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GGAGCAGCTGGCGAGCAACAG 0.662000 3 26 0 0 0.001168 0 0 PTGES3L-AARSD1 100885850 broad.mit.edu 37 17 41106915 41106915 + Nonsense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr17:41106915C>A ENST00000421990.2 - 14 1798 c.1453G>T c.(1453-1455)Gga>Tga p.G485* PTGES3L-AARSD1_ENST00000409103.1_Nonsense_Mutation_p.G394*|PTGES3L-AARSD1_ENST00000409399.1_Nonsense_Mutation_p.G485*|AARSD1_ENST00000427569.2_Nonsense_Mutation_p.G311*|PTGES3L-AARSD1_ENST00000360221.4_Nonsense_Mutation_p.G424* NM_001136042.2 NP_001129514.2 ACCACACCTCCCCAGTCTGGA 0.468000 47 95 3.50607e-19 4.72464e-19 0.014410 1 0 NLGN3 54413 broad.mit.edu 37 X 70389605 70389605 + Missense_Mutation SNP A A T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:70389605A>T ENST00000374051.3 + 7 2467 c.2145A>T c.(2143-2145)aaA>aaT p.K715N NLGN3_ENST00000536169.1_Missense_Mutation_p.K695N|NLGN3_ENST00000358741.3_Missense_Mutation_p.K735N|NLGN3_ENST00000476589.1_3'UTR NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 735 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) GTAAGGACAAACGGCGCCAGG 0.632000 6 15 0 0 0.006214 0 0 KCNQ5 56479 broad.mit.edu 37 6 73787159 73787159 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr6:73787159G>A ENST00000342056.2 + 4 1129 c.731G>A c.(730-732)cGc>cAc p.R244H KCNQ5_ENST00000414165.2_Missense_Mutation_p.R244H|KCNQ5_ENST00000370392.1_Missense_Mutation_p.R244H|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R244H|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R244H|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R244H|KCNQ5_ENST00000403813.2_Missense_Mutation_p.R244H|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R244H NM_001160132.1|NM_001160133.1 NP_001153604.1|NP_001153605.1 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 5 244 R -> C (in a colorectal cancer sample; somatic mutation). protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity p.R244H(2) breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) CGCATGGTGCGCATGGACCGA 0.438000 4 84 0 0 0.009096 0 0 C9orf50 375759 broad.mit.edu 37 9 132382763 132382763 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr9:132382763G>A ENST00000372478.4 - 1 292 c.91C>T c.(91-93)Cgg>Tgg p.R31W NTMT1_ENST00000372486.1_Intron NM_199350.3 NP_955382.3 Q5SZB4 CI050_HUMAN chromosome 9 open reading frame 50 31 central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) TTGGGCAGCCGCGGGTCGCTG 0.771000 2 0 0 0 0.004672 0 0 EFCAB7 84455 broad.mit.edu 37 1 63999765 63999765 + Splice_Site SNP G G C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:63999765G>C ENST00000371088.4 + 6 928 c.e6-1 NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 ACTTGTTGCAGGTGACACCAG 0.378000 66 127 0 0 0.014410 0 0 COL9A1 1297 broad.mit.edu 37 6 70944245 70944245 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr6:70944245G>T ENST00000357250.6 - 35 2469 c.2311C>A c.(2311-2313)Caa>Aaa p.Q771K RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.Q528K|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.Q528K NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 771 Nonhelical region (NC2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TATTTACCTTGTATGACTCTC 0.368000 55 57 5.73332e-34 8.56124e-34 0.014410 1 0 ZNF638 27332 broad.mit.edu 37 2 71591198 71591198 + Silent SNP A A T rs141783047 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:71591198A>T ENST00000409544.1 + 5 2163 c.1533A>T c.(1531-1533)ccA>ccT p.P511P ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Silent_p.P511P|ZNF638_ENST00000377802.2_Silent_p.P511P|ZNF638_ENST00000264447.4_Silent_p.P511P NM_001252612.1 NP_001239541.1 Q14966 ZN638_HUMAN zinc finger protein 638 511 Arg-rich. RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 CTCGAAGCCCAATGCATTACA 0.453000 57 82 0 0 0.014410 0 0 POLG 5428 broad.mit.edu 37 15 89865208 89865208 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr15:89865208G>A ENST00000268124.5 - 15 2798 c.2465C>T c.(2464-2466)cCc>cTc p.P822L POLG_ENST00000442287.2_Missense_Mutation_p.P822L NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 822 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) CACAGCACGGGGCAGAGCTGA 0.572000 DNA polymerases (catalytic subunits) 33 38 0 0 0.013726 0 0 RBP3 5949 broad.mit.edu 37 10 48383953 48383953 + Silent SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr10:48383953G>T ENST00000224600.4 - 3 3392 c.3279C>A c.(3277-3279)ccC>ccA p.P1093P NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1093 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGCACAAGATGGGAATGGAGG 0.577000 6 23 0.00448238 0.00469482 0.004482 1 0 DSCAML1 57453 broad.mit.edu 37 11 117303888 117303888 + Silent SNP C C G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr11:117303888C>G ENST00000321322.6 - 29 5173 c.5172G>C c.(5170-5172)ctG>ctC p.L1724L DSCAML1_ENST00000527706.1_Silent_p.L1454L NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1664 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CCTCGATGAGCAGCTGGACCC 0.567000 37 55 0 0 0.005524 0 0 TTN 7273 broad.mit.edu 37 2 179447076 179447076 + Missense_Mutation SNP T T G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:179447076T>G ENST00000589042.1 - 314 66331 c.66107A>C c.(66106-66108)tAt>tCt p.Y22036S TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y12971S|TTN_ENST00000342175.6_Missense_Mutation_p.Y13163S|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y13096S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y19468S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y20395S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20395 Ig-like 115. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCCTACTCCATATTTATTTTC 0.418000 19 30 0 0 0.012319 0 0 MXRA5 25878 broad.mit.edu 37 X 3229155 3229155 + Silent SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:3229155C>T ENST00000217939.6 - 7 7243 c.7089G>A c.(7087-7089)gtG>gtA p.V2363V NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2363 Ig-like C2-type 8. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTACAGTGACCACGTCTCCAT 0.562000 32 54 0 0 0.017118 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658394 72658394 + RNA SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:72658394G>A ENST00000425256.1 - 0 1517 NR_002164.1 tgtacccgtcgtgggcaccgt 0.463000 10 21 0 0 0.013537 0 0 NUDT13 25961 broad.mit.edu 37 10 74879877 74879877 + Nonsense_Mutation SNP C C G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr10:74879877C>G ENST00000357321.4 + 3 303 c.185C>G c.(184-186)tCa>tGa p.S62* NUDT13_ENST00000372997.3_Nonsense_Mutation_p.S62*|NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000349051.5_Nonsense_Mutation_p.S62* NM_015901.4 NP_056985.3 Q86X67 NUD13_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 13 62 hydrolase activity|metal ion binding large_intestine(2)|lung(5) 7 Prostate(51;0.0119) CTTCAGACTTCAGCACATCAA 0.498000 18 18 0 0 0.008871 0 0 SPAG17 200162 broad.mit.edu 37 1 118579413 118579413 + Missense_Mutation SNP C C G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:118579413C>G ENST00000336338.5 - 24 3478 c.3413G>C c.(3412-3414)gGa>gCa p.G1138A NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1138 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCCATTTGATCCATAGTAACT 0.438000 5 5 0 0 0.014758 0 0 ABCC11 85320 broad.mit.edu 37 16 48244989 48244989 + Missense_Mutation SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr16:48244989C>T ENST00000394747.1 - 10 1827 c.1478G>A c.(1477-1479)gGg>gAg p.G493E ABCC11_ENST00000537808.1_Missense_Mutation_p.G493E|ABCC11_ENST00000353782.5_Missense_Mutation_p.G493E|ABCC11_ENST00000394748.1_Missense_Mutation_p.G493E|ABCC11_ENST00000356608.2_Missense_Mutation_p.G493E NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 493 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CTCCAGTGCCCCATTGACGAT 0.582000 45 221 0 0 0.009718 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140725827 140725827 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr5:140725827G>T ENST00000253812.6 + 1 2227 c.2227G>T c.(2227-2229)Gcg>Tcg p.A743S PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTGTGGGCGCGGACGGGGT 0.667000 33 12 1.57351e-24 2.24353e-24 0.017118 1 0 TEX15 56154 broad.mit.edu 37 8 30700551 30700551 + Nonsense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr8:30700551G>A ENST00000256246.2 - 1 6057 c.5983C>T c.(5983-5985)Cag>Tag p.Q1995* NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1995 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AATTCAGCCTGATCCAATATC 0.308000 13 78 0 0 0.016723 0 0 APEX2 27301 broad.mit.edu 37 X 55029451 55029451 + Missense_Mutation SNP C C A rs75862529 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:55029451C>A ENST00000374987.3 + 4 545 c.479C>A c.(478-480)gCg>gAg p.A160E APEX2_ENST00000471758.1_3'UTR NM_014481.2 NP_055296.2 Q9UBZ4 APEX2_HUMAN APEX nuclease (apurinic/apyrimidinic endonuclease) 2 160 cell cycle|DNA recombination|DNA repair nucleus DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1) 21 TGCCCCCATGCGGACCCTGGG 0.547000 Other BER factors 11 23 1.96292e-10 2.33229e-10 0.010504 1 0 MED12 9968 broad.mit.edu 37 X 70342079 70342079 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:70342079G>T ENST00000333646.6 + 8 1330 c.1131G>T c.(1129-1131)ttG>ttT p.L377F MED12_ENST00000374080.3_Missense_Mutation_p.L377F|MED12_ENST00000374102.1_Missense_Mutation_p.L377F NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 377 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) CTAGTGCCTTGGTTTGGCACT 0.512000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 21 691 1.10513e-12 1.3721e-12 0.014323 1 0 ERAL1 26284 broad.mit.edu 37 17 27183332 27183332 + Missense_Mutation SNP C C T rs112005054 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr17:27183332C>T ENST00000254928.5 + 2 431 c.334C>T c.(334-336)Cgg>Tgg p.R112W ERAL1_ENST00000578001.1_3'UTR NM_005702.2 NP_005693.1 O75616 ERAL1_HUMAN Era-like 12S mitochondrial rRNA chaperone 1 112 ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|ribosomal small subunit binding|rRNA binding p.R112W(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) TGAGAATTCCCGGGTCCTACG 0.537000 7 278 0 0 0.001984 0 0 CHD6 84181 broad.mit.edu 37 20 40033720 40033720 + Missense_Mutation SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr20:40033720A>G ENST00000373233.3 - 37 7838 c.7661T>C c.(7660-7662)cTa>cCa p.L2554P CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2554 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TGTGCTTGATAGAGACGCCGG 0.542000 4 180 0 0 0.001168 0 0 PGRMC1 10857 broad.mit.edu 37 X 118370574 118370574 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:118370574G>T ENST00000217971.7 + 1 359 c.248G>T c.(247-249)gGc>gTc p.G83V PGRMC1_ENST00000535419.1_Missense_Mutation_p.G83V NM_006667.3 NP_006658.1 O00264 PGRC1_HUMAN progesterone receptor membrane component 1 83 Cytochrome b5 heme-binding. cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus heme binding|protein binding|receptor activity|steroid binding lung(6) 6 CGCTTCGACGGCGTCCAGGAC 0.716000 11 16 3.27435e-08 3.76892e-08 0.020292 1 0 OR10J3 441911 broad.mit.edu 37 1 159283909 159283909 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:159283909C>A ENST00000332217.5 - 1 540 c.541G>T c.(541-543)Gat>Tat p.D181Y NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 181 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) TGTCTCACATCACAGAAGAAG 0.498000 56 54 7.89702e-26 1.14819e-25 0.014410 1 0 TBC1D24 57465 broad.mit.edu 37 16 2546726 2546726 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr16:2546726G>A ENST00000567020.1 + 2 717 c.577G>A c.(577-579)Gcg>Acg p.A193T RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.A193T|TBC1D24_ENST00000434757.2_Missense_Mutation_p.A193T|TBC1D24_ENST00000293970.5_Missense_Mutation_p.A193T NM_020705.2 NP_065756.1 Q9ULP9 TBC24_HUMAN TBC1 domain family, member 24 193 Rab-GAP TBC. neuron projection development cytoplasm protein binding|Rab GTPase activator activity endometrium(2)|kidney(4)|large_intestine(3)|lung(4) 13 GTACTGCCAGGCGGCCCACAA 0.627000 10 13 0 0 0.016723 0 0 RPGR 6103 broad.mit.edu 37 X 38129066 38129066 + Missense_Mutation SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:38129066A>G ENST00000339363.3 - 18 3043 c.2876T>C c.(2875-2877)gTc>gCc p.V959A RPGR_ENST00000318842.7_Missense_Mutation_p.V754A|RPGR_ENST00000309513.3_Missense_Mutation_p.V692A|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_3'UTR Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator 959 intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 25 TATTGAGGGGACTCTTTTGAA 0.318000 6 30 0 0 0.001168 0 0 CARD10 29775 broad.mit.edu 37 22 37893099 37893099 + Missense_Mutation SNP C C G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr22:37893099C>G ENST00000403299.1 - 13 2090 c.1874G>C c.(1873-1875)gGg>gCg p.G625A CARD10_ENST00000406271.3_Missense_Mutation_p.G339A|CARD10_ENST00000251973.5_Missense_Mutation_p.G625A Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 625 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) CCATCTGTCCCCATAAAACGA 0.652000 33 46 0 0 0.009535 0 0 IRS4 8471 broad.mit.edu 37 X 107976487 107976487 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:107976487C>A ENST00000372129.2 - 1 3164 c.3088G>T c.(3088-3090)Gct>Tct p.A1030S NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 1030 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 TCAGCAAGAGCCATGGCTGGT 0.478000 38 68 3.86236e-30 5.72874e-30 0.014410 1 0 SOX3 6658 broad.mit.edu 37 X 139586818 139586818 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:139586818C>A ENST00000370536.2 - 1 407 c.408G>T c.(406-408)caG>caT p.Q136H NM_005634.2 NP_005625.2 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 136 face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 10 Acute lymphoblastic leukemia(192;7.65e-05) TCACACGGTCCTGGTCTGTAC 0.662000 25 40 1.16021e-09 1.34951e-09 0.007291 1 0 PCDH9 5101 broad.mit.edu 37 13 67799571 67799571 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr13:67799571C>A ENST00000544246.1 - 2 3693 c.3002G>T c.(3001-3003)gGc>gTc p.G1001V PCDH9_ENST00000377865.2_Missense_Mutation_p.G1001V|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1001V|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1001V|PCDH9_ENST00000377861.3_Missense_Mutation_p.G1001V NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 1001 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G1001D(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TGTCTTGAAGCCTCCTTGGGA 0.478000 46 15 2.81731e-22 3.91588e-22 0.014410 1 0 NEB 4703 broad.mit.edu 37 2 152426796 152426796 + Missense_Mutation SNP A A C TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:152426796A>C ENST00000427231.2 - 109 17431 c.17229T>G c.(17227-17229)aaT>aaG p.N5743K NEB_ENST00000397345.3_Missense_Mutation_p.N5743K|NEB_ENST00000409198.1_Missense_Mutation_p.N4042K|NEB_ENST00000172853.10_Missense_Mutation_p.N4042K|NEB_ENST00000603639.1_Missense_Mutation_p.N5743K|NEB_ENST00000604864.1_Missense_Mutation_p.N5743K NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5756 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) ACTCTCGTTCATTCTGGAGCT 0.552000 10 27 0 0 0.013537 0 0 TIMM17B 10245 broad.mit.edu 37 X 48754090 48754090 + Silent SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:48754090G>T ENST00000396779.3 - 3 226 c.78C>A c.(76-78)atC>atA p.I26I TIMM17B_ENST00000466995.1_5'UTR|TIMM17B_ENST00000376582.3_Silent_p.I26I NM_001167947.1 NP_001161419.1 O60830 TI17B_HUMAN translocase of inner mitochondrial membrane 17 homolog B (yeast) 26 protein targeting to mitochondrion integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity kidney(1)|large_intestine(1)|lung(3)|ovary(1) 6 CTCCGCCACCGATGACACCCA 0.582000 14 29 1.5739e-10 1.88017e-10 0.004007 1 0 NACA 4666 broad.mit.edu 37 12 57110315 57110315 + Nonsense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr12:57110315G>A ENST00000454682.1 - 3 5280 c.4999C>T c.(4999-5001)Caa>Taa p.Q1667* NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TTAGATGCTTGAGGAACAGTG 0.537000 T BCL6 NHL 3 5 0 0 0.004672 0 0 CYP4F12 66002 broad.mit.edu 37 19 15791312 15791312 + Missense_Mutation SNP A A T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr19:15791312A>T ENST00000550308.1 + 5 888 c.508A>T c.(508-510)Agt>Tgt p.S170C CYP4F12_ENST00000324632.9_Missense_Mutation_p.S170C NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CTTCAACAAGAGTGCAAACAT 0.527000 11 28 0 0 0.020292 0 0 MMP14 4323 broad.mit.edu 37 14 23306131 23306131 + Silent SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr14:23306131C>T ENST00000311852.6 + 1 366 c.105C>T c.(103-105)ccC>ccT p.P35P MMP14_ENST00000548162.1_3'UTR NM_004995.2 NP_004986.1 P50281 MMP14_HUMAN matrix metallopeptidase 14 (membrane-inserted) 35 extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 20 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) GCTTCAGCCCCGAAGTAAGTG 0.706000 OREG0022586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 63 0 0 0.009096 0 0 CDH18 1016 broad.mit.edu 37 5 19473547 19473547 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr5:19473547C>A ENST00000507958.1 - 15 3151 c.2161G>T c.(2161-2163)Gca>Tca p.A721S CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.A721S|CDH18_ENST00000274170.4_Missense_Mutation_p.A721S Q13634 CAD18_HUMAN cadherin 18, type 2 721 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A721S(2) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCTGCTTCTGCCAGTCTTTGC 0.498000 33 265 3.90053e-15 4.92581e-15 0.012213 1 0 ZNF681 148213 broad.mit.edu 37 19 23926607 23926607 + Missense_Mutation SNP C C T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr19:23926607C>T ENST00000402377.3 - 4 1886 c.1745G>A c.(1744-1746)aGa>aAa p.R582K ZNF681_ENST00000395385.3_Missense_Mutation_p.R513K NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 582 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AGTATGAATTCTCTTATGTCT 0.393000 13 41 0 0 0.013537 0 0 SH3BGRL 6451 broad.mit.edu 37 X 80552722 80552722 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:80552722C>A ENST00000373212.5 + 4 599 c.341C>A c.(340-342)gCa>gAa p.A114E SH3BGRL_ENST00000481106.1_3'UTR NM_003022.2 NP_003013.1 O75368 SH3L1_HUMAN SH3 domain binding glutamic acid-rich protein like 114 cytoplasm|nucleus SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|ovary(1) 4 all_lung(315;5.94e-05) AAGCAGCAAGCATGAACCTTA 0.358000 35 69 2.6416e-12 3.26142e-12 0.006230 1 0 KIAA2022 340533 broad.mit.edu 37 X 73962891 73962891 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:73962891C>A ENST00000373468.1 - 3 2152 c.1501G>T c.(1501-1503)Ggt>Tgt p.G501C KIAA2022_ENST00000055682.5_Missense_Mutation_p.G501C Q5QGS0 K2022_HUMAN KIAA2022 501 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 ACTTTTTCACCCTCTAGTGAG 0.428000 53 73 1.00798e-23 1.41888e-23 0.014410 1 0 PRICKLE1 144165 broad.mit.edu 37 12 42854161 42854161 + Missense_Mutation SNP T T A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr12:42854161T>A ENST00000455697.1 - 8 2231 c.1946A>T c.(1945-1947)cAg>cTg p.Q649L PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Q649L|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Q649L|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Q649L|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Q649L|RP11-328C8.4_ENST00000547824.1_RNA NM_001144882.1|NM_001144883.1 NP_001138354.1|NP_001138355.1 Q96MT3 PRIC1_HUMAN prickle homolog 1 (Drosophila) 649 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus cytosol|nuclear membrane zinc ion binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 all_cancers(12;4.25e-05)|Breast(8;0.176) GBM - Glioblastoma multiforme(48;0.2) CATCGGAGGCTGCCGGATTTC 0.522000 33 53 0 0 0.007835 0 0 PPIE 10450 broad.mit.edu 37 1 40207573 40207573 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:40207573G>A ENST00000324379.5 + 4 200 c.181G>A c.(181-183)Gca>Aca p.A61T PPIE_ENST00000470213.1_Missense_Mutation_p.A61T|PPIE_ENST00000372830.1_Missense_Mutation_p.A61T|PPIE_ENST00000356511.2_Missense_Mutation_p.A61T|PPIE_ENST00000480169.1_3'UTR NM_006112.3 NP_006103.1 Q9UNP9 PPIE_HUMAN peptidylprolyl isomerase E (cyclophilin E) 61 Poly-Ala.|RRM. protein folding|regulation of transcription, DNA-dependent catalytic step 2 spliceosome cyclosporin A binding|nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|RNA binding kidney(3)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1) 9 all_cancers(7;1.63e-13)|all_lung(5;2.27e-16)|all_epithelial(6;1.35e-15)|Lung NSC(20;1.49e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;2.7e-17)|all cancers(16;5.5e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCAGGATGCTGCAGCAGCTAT 0.413000 20 142 0 0 0.021523 0 0 TEX15 56154 broad.mit.edu 37 8 30699884 30699884 + Missense_Mutation SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr8:30699884G>A ENST00000256246.2 - 1 6724 c.6650C>T c.(6649-6651)tCt>tTt p.S2217F NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 2217 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CCTAGGGGCAGACATTACATT 0.353000 12 137 0 0 0.020292 0 0 ADGRG6 57211 broad.mit.edu 37 6 142729338 142729338 + Missense_Mutation SNP A A G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr6:142729338A>G ENST00000230173.6 + 16 2796 c.2320A>G c.(2320-2322)Att>Gtt p.I774V GPR126_ENST00000367609.3_Missense_Mutation_p.I774V|GPR126_ENST00000367608.2_Missense_Mutation_p.I746V|GPR126_ENST00000296932.8_Missense_Mutation_p.I746V NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 774 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GGCGTGCAGTATTGGAAACAT 0.358000 14 14 0 0 0.020292 0 0 ENPP3 5169 broad.mit.edu 37 6 132014711 132014711 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr6:132014711C>A ENST00000414305.1 + 16 1687 c.1359C>A c.(1357-1359)aaC>aaA p.N453K ENPP3_ENST00000357639.3_Missense_Mutation_p.N453K|ENPP3_ENST00000358229.5_Missense_Mutation_p.N453K O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3 453 Phosphodiesterase. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) ATGCCAAGAACGTCAGAATCG 0.393000 33 164 2.09667e-21 2.87803e-21 0.017118 1 0 CRYGN 155051 broad.mit.edu 37 7 151135181 151135181 + Silent SNP G G A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr7:151135181G>A ENST00000337323.2 - 2 297 c.171C>T c.(169-171)ttC>ttT p.F57F RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR NM_144727.1 NP_653328.1 Q8WXF5 CRGN_HUMAN crystallin, gamma N 57 Beta/gamma crystallin 'Greek key' 2. central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4) 8 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTGGCCCCGGAAGTCGGGGT 0.602000 15 51 0 0 0.004990 0 0 C4orf21 55345 broad.mit.edu 37 4 113505306 113505306 + Missense_Mutation SNP C C G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr4:113505306C>G ENST00000505019.1 - 15 4251 c.4126G>C c.(4126-4128)Gga>Cga p.G1376R NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) GCTTTGGGTCCATCACATGTA 0.373000 19 3 0 0 0.007413 0 0 MLKL 197259 broad.mit.edu 37 16 74729467 74729467 + Missense_Mutation SNP G G T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr16:74729467G>T ENST00000308807.7 - 2 652 c.189C>A c.(187-189)aaC>aaA p.N63K MLKL_ENST00000306247.7_Missense_Mutation_p.N63K NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 63 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 CCTTGAAGCGGTTCATGGCTG 0.537000 30 58 2.75727e-19 3.76146e-19 0.021022 1 0 SCML2 10389 broad.mit.edu 37 X 18278317 18278317 + Missense_Mutation SNP C C G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chrX:18278317C>G ENST00000251900.4 - 9 1202 c.1043G>C c.(1042-1044)gGg>gCg p.G348A SCML2_ENST00000398048.3_Missense_Mutation_p.G84A NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) 348 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity p.G348V(1) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TTTACATGGCCCAGAAGCGAC 0.353000 34 52 0 0 0.007835 0 0 ZBTB32 27033 broad.mit.edu 37 19 36207448 36207448 + Missense_Mutation SNP C C A TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr19:36207448C>A ENST00000392197.2 + 7 1576 c.1258C>A c.(1258-1260)Ctg>Atg p.L420M ZBTB32_ENST00000262630.3_Missense_Mutation_p.L420M Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 420 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GACCAAGCACCTGCGGACACA 0.687000 OREG0025433 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 80 6.33695e-27 9.33644e-27 0.007835 1 0 MEGF6 1953 broad.mit.edu 37 1 3496416 3496417 + Frame_Shift_Ins INS - - G rs115018369 by1000genomes TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:3496416_3496417insG ENST00000356575.4 - 4 679_680 c.453_454insC c.(451-456)ccgcttfs p.L152fs NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 152 EGF-like 1. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) CCCTGGAAGCCGGGGGGACAGT 0.663 2 4 --- --- --- --- RPS10P7 376693 broad.mit.edu 37 1 201489731 201489731 + RNA DEL G G - rs4915234 by1000genomes TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:201489731delG ENST00000441932.1 + 0 1901 RP11-134G8.7_ENST00000454651.1_RNA NR_026667.1 AAAAAaaaaagaaagaaagct 0.423 3 5 --- --- --- --- CDK18 5129 broad.mit.edu 37 1 205497018 205497019 + Frame_Shift_Ins INS - - G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr1:205497018_205497019insG ENST00000360066.2 + 9 1127_1128 c.826_827insG c.(826-828)gggfs p.G276fs CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Frame_Shift_Ins_p.G306fs|CDK18_ENST00000429964.2_Frame_Shift_Ins_p.G276fs NM_002596.3|NM_212502.2|NM_212503.2 NP_002587.2|NP_997667.1|NP_997668.1 Q07002 CDK18_HUMAN cyclin-dependent kinase 18 274 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1) 19 CATCAACGAGAGGGGGGAGCTG 0.639 11 368 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr2:131129929_131129934delGACGGG ENST00000175756.5 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)cag>ca p.QTG371del PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 371 cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity p.T378_G379delTG(1) endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.777 3 5 --- --- --- --- LNP1 348801 broad.mit.edu 37 3 100148586 100148588 + In_Frame_Del DEL GAT GAT - TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr3:100148586_100148588delGAT ENST00000383693.3 + 2 1293_1295 c.13_15delGAT c.(13-15)del p.D10del LNP1_ENST00000489752.1_In_Frame_Del_p.D10del NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 10 Poly-Asp. cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGAGCACAAAGATGATGATGATG 0.507 7 822 --- --- --- --- DNAH5 1767 broad.mit.edu 37 5 13919382 13919383 + Frame_Shift_Ins INS - - T TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr5:13919382_13919383insT ENST00000265104.4 - 7 981_982 c.877_878insA c.(877-879)actfs p.T293fs NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 293 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) CTTGGAGAGTCTTTTTTTCCAG 0.520 Kartagener syndrome 8 1697 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50732305 50732305 + Frame_Shift_Del DEL C C - TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr10:50732305delC ENST00000355832.5 - 5 1249 c.1171delG c.(1171-1173)cafs p.A391fs PGBD3_ENST00000603152.1_Frame_Shift_Del_p.A391fs|ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.A391fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.A391fs NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 391 Asp/Glu-rich (acidic). base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 tccgcctctgccccctccacc 0.567 Direct reversal of damage;Nucleotide excision repair (NER) 17 22 --- --- --- --- ZDHHC6 64429 broad.mit.edu 37 10 114194168 114194168 + Frame_Shift_Del DEL C C - TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr10:114194168delC ENST00000369405.3 - 7 1213 c.790delG c.(790-792)atfs p.D264fs ZDHHC6_ENST00000369404.3_Frame_Shift_Del_p.D260fs NM_022494.1 NP_071939.1 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 264 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) CTTCCCATATCATATGGAAAA 0.428 16 98 --- --- --- --- CHRM4 1132 broad.mit.edu 37 11 46407277 46407278 + Frame_Shift_Ins INS - - G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr11:46407277_46407278insG ENST00000433765.2 - 1 829_830 c.830_831insC c.(829-831)cccfs p.P277fs NM_000741.2 NP_000732.2 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 277 cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 20 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) GCAGCGCTGGCGGGGGGGCCTC 0.668 2 4 --- --- --- --- MED15P1 326615 broad.mit.edu 37 14 19500074 19500074 + RNA DEL G G - TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr14:19500074delG ENST00000552968.1 - 0 495 GCTTCCGGGTGCACACCACTG 0.637 2 4 --- --- --- --- ZNF66 7617 broad.mit.edu 37 19 20990110 20990111 + Frame_Shift_Ins INS - - G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr19:20990110_20990111insG ENST00000344519.8 + 4 1727_1728 c.1704_1705insG c.(1702-1707)gaatgtfs p.C569fs ZNF66_ENST00000425625.1_Intron ACAAATGTGAAAATGTGGCAAA 0.381 10 27 --- --- --- --- CARD10 29775 broad.mit.edu 37 22 37900248 37900249 + Frame_Shift_Ins INS - - G rs35832225 TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5584878f-0608-45d9-8e28-29c277bf655f a1da7605-ca70-4b1a-8d30-c95650bcfa52 g.chr22:37900248_37900249insG ENST00000403299.1 - 10 1794_1795 c.1578_1579insC c.(1576-1581)ccgtgcfs p.C527fs CARD10_ENST00000406271.3_Frame_Shift_Ins_p.C241fs|CARD10_ENST00000251973.5_Frame_Shift_Ins_p.C527fs Q9BWT7 CAR10_HUMAN caspase recruitment domain family, member 10 527 activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis CBM complex receptor signaling complex scaffold activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 17 Melanoma(58;0.0574) GAGCCGGCACTGGGGGGGAAGG 0.639 4 6 --- --- --- ---