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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut TTN 7273 broad.mit.edu 37 2 179436938 179436938 + Nonsense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:179436938C>A uc021vsy.1 - 274 66442 c.66217G>T c.(66217-66219)Gag>Tag p.E22073* MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.E15768*|TTN_uc021vta.1_Nonsense_Mutation_p.E15701*|TTN_uc021vtb.1_Nonsense_Mutation_p.E15576* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23000 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) CCATCATGCTCTGGTTTCTCC 0.483000 23 14 4.7546e-09 8.72765e-08 0.000422831 1 0 FGFBP2 83888 broad.mit.edu 37 4 15964237 15964237 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:15964237C>A uc003gon.3 - 0 623 c.516G>T c.(514-516)ctG>ctT p.L172L FGFBP2_uc021xmm.1_Silent_p.L172L NM_031950 NP_114156 Q9BYJ0 FGFP2_HUMAN Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA. 172 extracellular space growth factor binding central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 9 TGGCTTTTCCCAGCTCTTCCA 0.587000 127 36 5.2432e-18 1.54194e-16 0.000781405 1 0 CHST9 83539 broad.mit.edu 37 18 24496499 24496499 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr18:24496499C>A uc002kwd.3 - 4 1285 c.1056G>T c.(1054-1056)aaG>aaT p.K352N CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.K352N|CHST9_uc021uij.1_Missense_Mutation_p.K267N NM_001243848 NP_001230777 Q7L1S5 CHST9_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA. 352 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|extracellular region|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) GTTTGCTGACCTTTTCCCAGT 0.398000 62 39 2.47872e-24 9.1e-23 0.000509022 1 0 HNRNPA1L2 144983 broad.mit.edu 37 13 53217458 53217458 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr13:53217458G>T uc001vgx.1 + 6 1904 c.831G>T c.(829-831)aaG>aaT p.K277N HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.K277N|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.K277N|HNRNPA1L2_uc021rjy.1_Missense_Mutation_p.K277N NM_001011724 NP_001011725 Q32P51 RA1L2_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein A1-like 2 (HNRNPA1L2), transcript variant 1, mRNA. 277 Gly-rich.|Nuclear targeting sequence (By similarity). RNA splicing|mRNA processing|mRNA transport cytoplasm|spliceosomal complex RNA binding|nucleotide binding cervix(1)|large_intestine(1)|lung(5) 7 GACCCATGAAGGGAGGAAATT 0.448000 15 31 9.9998e-32 4.13006e-30 0.000589545 1 0 CELSR3 1951 broad.mit.edu 37 3 48697877 48697877 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:48697877G>T uc003cuf.1 - 2 2401 c.2401C>A c.(2401-2403)Cat>Aat p.H801N CELSR3_uc003cul.3_Missense_Mutation_p.H731N NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 731 Cadherin 5. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGTGAGCCATGGTCTCGAGCC 0.552000 53 13 6.81908e-15 1.75701e-13 0.000219431 1 0 MRPS35 60488 broad.mit.edu 37 12 27863869 27863869 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:27863869G>T uc001rih.3 + 0 164 c.93G>T c.(91-93)ccG>ccT p.P31P MRPS35_uc001rii.3_Silent_p.P31P NM_021821 NP_068593 P82673 RT35_HUMAN Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 31 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 6 Lung SC(9;0.0873) CGGCCACTCCGGTCCCGACAC 0.652000 12 11 6.40141e-05 0.000870623 6.40141e-05 1 0 CCNH 902 broad.mit.edu 37 5 86690864 86690864 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:86690864C>A uc003kjb.3 - 7 1169 c.930G>T c.(928-930)gaG>gaT p.E310D CCNH_uc003kiy.1_Non-coding_Transcript|CCNH_uc003kiz.1_Missense_Mutation_p.E257D|CCNH_uc003kja.3_Missense_Mutation_p.E257D NM_001239 NP_001186118 P51946 CCNH_HUMAN Homo sapiens cyclin H (CCNH), transcript variant 1, mRNA. 310 Poly-Glu. G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex protein kinase binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2) 15 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28) AACATACCTCCTCATGTTTGG 0.343000 Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER) 164 51 1.4709e-25 5.545e-24 0.000781405 1 0 C3orf27 23434 broad.mit.edu 37 3 128292485 128292485 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:128292485G>T uc021xdl.1 - 0 88 c.88C>A c.(88-90)Cag>Aag p.Q30K C3orf27_uc003ekq.3_Missense_Mutation_p.Q30K NM_007354 NP_031380 O15544 GR6_HUMAN Homo sapiens chromosome 3 open reading frame 27 (C3orf27), mRNA. 30 large_intestine(2)|lung(5)|prostate(1) 8 GBM - Glioblastoma multiforme(114;0.176) GGGGGTCCCTGGAGGCGGGAG 0.607000 18 10 2.27111e-07 3.67632e-06 0.00010058 1 0 MLH3 27030 broad.mit.edu 37 14 75514030 75514030 + Nonsense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr14:75514030C>A uc001xrd.1 - 1 2545 c.2329G>T c.(2329-2331)Gga>Tga p.G777* MLH3_uc001xre.1_Nonsense_Mutation_p.G777*|MLH3_uc010tuy.1_Non-coding_Transcript NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA. 777 mismatch repair|reciprocal meiotic recombination MutLbeta complex|chiasma|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) GTAGTGACTCCATTACTTTCC 0.403000 Mismatch excision repair (MMR) 65 39 1.57019e-19 4.92725e-18 0.000319135 1 0 NLRP3 114548 broad.mit.edu 37 1 247599359 247599359 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:247599359G>T uc001icr.3 + 7 2724 c.2586G>T c.(2584-2586)gtG>gtT p.V862V NLRP3_uc001ics.3_Intron|NLRP3_uc001icu.3_Silent_p.V862V|NLRP3_uc001icw.3_Silent_p.V805V|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Silent_p.V840V NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 862 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GACTCTATGTGGGGGAGAATG 0.488000 73 30 7.72975e-29 3.03622e-27 0.000491102 1 0 ARHGEF10L 55160 broad.mit.edu 37 1 17981197 17981197 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:17981197C>A uc001ban.3 + 22 2620 c.2461C>A c.(2461-2463)Ctt>Att p.L821I ARHGEF10L_uc009vpe.1_Missense_Mutation_p.L782I|ARHGEF10L_uc001bao.3_Missense_Mutation_p.L782I|ARHGEF10L_uc001bap.3_Missense_Mutation_p.L777I|ARHGEF10L_uc001baq.3_Missense_Mutation_p.L582I|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.L594I|ARHGEF10L_uc001bar.3_Missense_Mutation_p.L524I|ARHGEF10L_uc009vpf.3_Non-coding_Transcript NM_018125 NP_060595 Q9HCE6 ARGAL_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA. 821 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CAGCACCTCCCTTCCACAGGG 0.622000 69 40 5.44703e-19 1.66282e-17 0.000437636 1 0 MUC17 140453 broad.mit.edu 37 7 100687039 100687039 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:100687039C>A uc003uxp.1 + 2 12395 c.12342C>A c.(12340-12342)ccC>ccA p.P4114P MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 4114 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) CCGCTGTCCCCACGAATACTA 0.483000 26 19 2.4624e-09 4.59511e-08 0.000132079 1 0 ITGAX 3687 broad.mit.edu 37 16 31373991 31373991 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:31373991C>A uc002ebt.3 + 11 1343 c.1276C>A c.(1276-1278)Cgc>Agc p.R426S ITGAX_uc002ebu.1_Missense_Mutation_p.R426S|ITGAX_uc010vfk.1_Missense_Mutation_p.R76S NM_000887 NP_000878 P20702 ITAX_HUMAN Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA. 426 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity p.R426fs*20(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 GGGGGCCCCCCGCTACCAGCA 0.657000 6 7 8.12818e-05 0.00108964 8.12818e-05 1 0 CGA 1081 broad.mit.edu 37 6 87796111 87796111 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:87796111G>T uc003plj.2 - 2 272 c.130C>A c.(130-132)Cag>Aag p.Q44K CGA_uc021zci.1_Missense_Mutation_p.Q75K NM_000735 NP_000726 P01215 GLHA_HUMAN Homo sapiens glycoprotein hormones, alpha polypeptide (CGA), transcript variant 2, mRNA. 44 hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1) 15 all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102) BRCA - Breast invasive adenocarcinoma(108;0.0484) GCACCCGGCTGGGAGAAGAAT 0.448000 56 28 1.39806e-14 3.52147e-13 0.000227799 1 0 GALNTL2 117248 broad.mit.edu 37 3 16217075 16217075 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:16217075G>T uc003car.4 + 0 892 c.417G>T c.(415-417)gaG>gaT p.E139D GALNTL2_uc003caq.4_Intron NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 139 Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 GGGCTGATGAGGACGGGGAGG 0.642000 19 11 7.03913e-09 1.27957e-07 0.00010058 1 0 ZNF300 91975 broad.mit.edu 37 5 150275222 150275222 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:150275222C>A uc021yfx.1 - 6 2055 c.1627G>T c.(1627-1629)Ggg>Tgg p.G543W ZNF300_uc021yfy.1_Missense_Mutation_p.G527W|ZNF300_uc021yfz.1_Missense_Mutation_p.G491W NM_001172831 NP_001166303 Q96RE9 ZN300_HUMAN Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA. 527 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAGGCTTTCCCACATTCAGTA 0.433000 25 16 1.02788e-11 2.21212e-10 0.000566183 1 0 RASSF10 644943 broad.mit.edu 37 11 13032278 13032278 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:13032278G>T uc021qdz.1 + 0 1309 c.1155G>T c.(1153-1155)ctG>ctT p.L385L NM_001080521 NP_001073990 A6NK89 RASFA_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 (RASSF10), mRNA. 385 signal transduction Epithelial(150;0.00399) AGCTGCTGCTGGAGCAGGAAC 0.662000 4 5 0.000602214 0.00760143 0.000602214 1 0 JAKMIP2 9832 broad.mit.edu 37 5 147020327 147020327 + Silent SNP T G G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:147020327T>G uc010jgo.1 - 7 1489 c.1341A>C c.(1339-1341)tcA>tcC p.S447S JAKMIP2_uc003loq.1_Silent_p.S447S|JAKMIP2_uc011dbx.1_Silent_p.S405S|JAKMIP2_uc003lor.1_Silent_p.S447S|LOC153469_uc003lop.1_Intron NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 447 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCCATGGATGATGTCTCTG 0.423000 29 17 0 0 0.000422831 0 0 CR1 1378 broad.mit.edu 37 1 207737337 207737337 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:207737337C>T uc001hfy.3 + 13 2505 c.2365C>T c.(2365-2367)Cgc>Tgc p.R789C CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Missense_Mutation_p.R1239C|CR1_uc021pij.1_Missense_Mutation_p.R789C|CR1_uc009xck.1_Intron NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 789 Sushi 12. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TGCGTCTATGCGCTGCACACC 0.547000 78 17 0 0 0.000958276 0 0 PNMA3 29944 broad.mit.edu 37 X 152225667 152225667 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chrX:152225667G>T uc022cho.1 + 0 255 c.255G>T c.(253-255)aaG>aaT p.K85N PNMA3_uc004fhc.2_Missense_Mutation_p.K85N|PNMA3_uc004fhd.3_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA. 85 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) taccaggaaagggggggccct 0.532000 7 12 2.23348e-06 3.34546e-05 0.000422831 1 0 TET3 200424 broad.mit.edu 37 2 74275057 74275057 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:74275057C>A uc002skb.4 + 0 1608 c.1608C>A c.(1606-1608)ccC>ccA p.P536P TET3_uc010fez.2_Silent_p.P536P NM_144993 NP_659430 O43151 TET3_HUMAN Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA. 536 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CACCTAGTCCCTCCAGGGACA 0.647000 7 9 0.000274275 0.00353349 0.000274275 1 0 KIAA1549 57670 broad.mit.edu 37 7 138603046 138603046 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:138603046C>A uc011kql.2 - 1 1375 c.1326G>T c.(1324-1326)gtG>gtT p.V442V KIAA1549_uc011kqj.2_Silent_p.V442V NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 442 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 CCCCTGATCCCACGTCTTTCT 0.547000 O BRAF pilocytic astrocytoma 51 22 4.26978e-12 9.36849e-11 0.00047179 1 0 EIF3B 8662 broad.mit.edu 37 7 2418774 2418774 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:2418774G>T uc003slx.3 + 16 2321 c.2238G>T c.(2236-2238)ttG>ttT p.L746F EIF3B_uc003sly.3_Missense_Mutation_p.L746F|EIF3B_uc003sma.3_Missense_Mutation_p.L474F|EIF3B_uc003smb.3_Non-coding_Transcript NM_003751 NP_003742 P55884 EIF3B_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA. 746 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CATAGGAATTGGTGGAGAGAA 0.557000 14 7 2.52707e-12 5.63275e-11 0.000442599 1 0 GPR98 84059 broad.mit.edu 37 5 89933721 89933721 + Missense_Mutation SNP T G G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:89933721T>G uc003kju.3 + 10 2292 c.2196T>G c.(2194-2196)gaT>gaG p.D732E GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 732 Calx-beta 5. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCAAAGGTGATGACATACCGG 0.363000 39 15 0 0 0.00074312 0 0 KIAA1653 0 broad.mit.edu 37 22 20294137 20294137 + RNA SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:20294137G>A uc002zrw.1 + 0 c.2577G>A Homo sapiens mRNA for KIAA1653 protein, partial cds. GACTCATGCAGAAGAGGGCAC 0.627000 11 24 0 0 0.000295444 0 0 OR51B5 282763 broad.mit.edu 37 11 5364502 5364502 + Silent SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:5364502G>A uc001map.1 - 0 253 c.253C>T c.(253-255)Ctg>Ttg p.L85L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.L85L NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA. 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTGATCCAGCCAGAGGACT 0.557000 11 19 0 0 0.00074312 0 0 BCAR1 9564 broad.mit.edu 37 16 75268985 75268985 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:75268985G>T uc002fdv.3 - 4 1958 c.1812C>A c.(1810-1812)ctC>ctA p.L604L BCAR1_uc002fdt.3_Silent_p.L57L|BCAR1_uc002fdu.3_Silent_p.L394L|BCAR1_uc010vna.2_Silent_p.L602L|BCAR1_uc010cgu.3_Silent_p.L622L|BCAR1_uc010vnb.2_Silent_p.L650L|BCAR1_uc002fdw.3_Silent_p.L604L|BCAR1_uc010vnc.2_Silent_p.L456L|BCAR1_uc010vnd.2_Silent_p.L622L|BCAR1_uc002fdx.3_Silent_p.L622L NM_014567 NP_055382 P56945 BCAR1_HUMAN Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA. 604 Ser-rich. B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth cytosol|focal adhesion|membrane fraction|ruffle SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) TCCGTCTGAAGAGCAGTGAGG 0.687000 18 10 1.61879e-10 3.29448e-09 0.00010058 1 0 ZNF425 155054 broad.mit.edu 37 7 148801090 148801090 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:148801090G>T uc003wfj.3 - 3 2006 c.1873C>A c.(1873-1875)Ctg>Atg p.L625M NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN Homo sapiens zinc finger protein 425 (ZNF425), mRNA. 625 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGGCTTTTCAGGTTTCCCTTG 0.537000 90 21 1.87028e-06 2.83164e-05 0.000229342 1 0 SI 6476 broad.mit.edu 37 3 164737442 164737442 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:164737442C>A uc003fei.3 - 27 3434 c.3371G>T c.(3370-3372)cGa>cTa p.R1124L NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1124 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.R1124*(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTTCAGATCTCGCTTAAATGC 0.438000 HNSCC(35;0.089) 34 26 1.16021e-09 2.23181e-08 0.000184323 1 0 ISX 91464 broad.mit.edu 37 22 35481452 35481452 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:35481452C>A uc003anj.3 + 3 1455 c.504C>A c.(502-504)ccC>ccA p.P168P NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN Homo sapiens intestine-specific homeobox (ISX), mRNA. 168 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4) 26 GACAGGGGCCCACGTGGACAT 0.597000 163 20 9.62636e-23 3.33773e-21 0.000295444 1 0 TAS2R39 259285 broad.mit.edu 37 7 142881285 142881285 + Missense_Mutation SNP G T T rs4103817 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:142881285G>T uc011ksw.2 + 0 774 c.774G>T c.(772-774)atG>atT p.M258I NM_176881 NP_795362 P59534 T2R39_HUMAN Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA. 258 sensory perception of taste integral to membrane G-protein coupled receptor activity p.H257Y(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) AGGCTCACATGGGGGCCATCA 0.493000 50 36 2.05212e-20 6.7016e-19 0.000191422 1 0 KLRC2 3822 broad.mit.edu 37 12 10587105 10587105 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:10587105G>T uc001qyh.3 - 2 318 c.311C>A c.(310-312)cCg>cAg p.P104Q KLRC2_uc010she.1_Missense_Mutation_p.P104Q|KLRC2_uc001qyk.2_Missense_Mutation_p.P104Q NM_002261 NP_002252 P26717 NKG2C_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA. 104 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 TCTTGTATTCGGGGAAAAATT 0.279000 67 23 1.75199e-13 4.16987e-12 0.000184323 1 0 GGT7 2686 broad.mit.edu 37 20 33442705 33442705 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:33442705G>T uc002xay.3 - 8 1167 c.1124C>A c.(1123-1125)cCa>cAa p.P375Q GGT7_uc002xaz.1_Missense_Mutation_p.P392Q NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA. 375 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 GTGCGGAGGTGGGGGACTAAG 0.582000 21 13 4.3838e-07 6.95588e-06 0.000151284 1 0 TBX15 6913 broad.mit.edu 37 1 119427633 119427633 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:119427633G>T uc001ehl.1 - 7 1528 c.1213C>A c.(1213-1215)Ctt>Att p.L405I TBX15_uc009whj.1_Missense_Mutation_p.L229I NM_152380 NP_689593 Q96SF7 TBX15_HUMAN Homo sapiens T-box 15 (TBX15), mRNA. 511 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) GGGTTGTGAAGGGAGAAGGCA 0.532000 13 4 1.024e-07 1.71696e-06 0.000602214 1 0 CDO1 1036 broad.mit.edu 37 5 115152014 115152014 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:115152014C>A uc003krg.3 - 0 392 c.81G>T c.(79-81)gaG>gaT p.E27D NM_001801 NP_001792 Q16878 CDO1_HUMAN Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA. 27 inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process cytosol cysteine dioxygenase activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5) 11 all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776) OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05) L-Cysteine(DB00151)|NADH(DB00157) CTACATTGACCTCATCGCCGG 0.607000 84 57 9.77497e-20 3.10203e-18 0.000781405 1 0 FOXA3 3171 broad.mit.edu 37 19 46376171 46376171 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:46376171C>A uc002pdr.3 + 1 1105 c.908C>A c.(907-909)cCt>cAt p.P303H NM_004497 NP_004488 P55318 FOXA3_HUMAN Homo sapiens forkhead box A3 (FOXA3), mRNA. 303 brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1) 13 Ovarian(192;0.0308)|all_neural(266;0.0476) OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236) TTCAACCACCCTTTCTCCATC 0.597000 25 15 1.15088e-07 1.8902e-06 0.000422831 1 0 NLRP2 55655 broad.mit.edu 37 19 55494486 55494486 + Missense_Mutation SNP G T T rs149186407 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:55494486G>T uc021vbq.1 + 5 1531 c.1420G>T c.(1420-1422)Ggg>Tgg p.G474W NLRP2_uc010yfp.2_Missense_Mutation_p.G451W|NLRP2_uc002qij.3_Missense_Mutation_p.G474W|NLRP2_uc010esp.3_Missense_Mutation_p.G452W|NLRP2_uc010esn.3_Missense_Mutation_p.G450W|NLRP2_uc010eso.3_Missense_Mutation_p.G471W NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 474 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GGAAAGGCTCGGGGTGCAGGA 0.662000 45 26 5.45727e-16 1.46667e-14 0.000227799 1 0 CREBBP 1387 broad.mit.edu 37 16 3778993 3778993 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:3778993C>A uc002cvv.3 - 30 6259 c.6055G>T c.(6055-6057)Ggg>Tgg p.G2019W CREBBP_uc002cvw.3_Missense_Mutation_p.G1981W NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 2019 N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia cytoplasm|nuclear body MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGCCACTGCCCGGGAGGCATG 0.726000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 5 8.12818e-05 0.00108964 8.12818e-05 1 0 CACNA1E 777 broad.mit.edu 37 1 181708321 181708321 + Silent SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:181708321C>T uc009wxt.3 + 24 3846 c.3651C>T c.(3649-3651)taC>taT p.Y1217Y CACNA1E_uc001gow.3_Silent_p.Y1217Y|CACNA1E_uc009wxs.3_Silent_p.Y1198Y|CACNA1E_uc001gox.1_Silent_p.Y443Y NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1217 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ATGGGTCCTACTTCCGAGACT 0.502000 206 73 0 0 0.000781405 0 0 SLC30A9 10463 broad.mit.edu 37 4 42003751 42003751 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:42003751G>T uc003gwl.3 + 1 374 c.228G>T c.(226-228)caG>caT p.Q76H SLC30A9_uc011byx.2_5'UTR NM_006345 NP_006336 Q6PML9 ZNT9_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA. 76 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AAGAAGGACAGGGATCACAAA 0.353000 42 10 0.000673444 0.00844361 0.000673444 1 0 GAD2 2572 broad.mit.edu 37 10 26508003 26508003 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr10:26508003C>A uc001isp.2 + 3 821 c.318C>A c.(316-318)ccC>ccA p.P106P GAD2_uc009xkr.3_Silent_p.P106P|GAD2_uc001isq.2_Silent_p.P106P NM_001134366 NP_001127838 Q05329 DCE2_HUMAN Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA. 106 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) GAGAAAGGCCCACTTTGGCGT 0.358000 39 27 1.75199e-13 4.16987e-12 0.000184323 1 0 LILRA1 11024 broad.mit.edu 37 19 55086037 55086037 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:55086037C>A uc010ern.3 + 3 809 c.340C>A c.(340-342)Ctg>Atg p.L114M LILRA1_uc002qgg.4_Missense_Mutation_p.L114M|LILRA1_uc002qgf.3_Missense_Mutation_p.L114M|LILRA1_uc010yfe.1_Missense_Mutation_p.L114M|LILRA1_uc010yff.1_Missense_Mutation_p.L102M|LILRA1_uc010ero.3_Missense_Mutation_p.L102M|LILRA1_uc010yfg.1_Missense_Mutation_p.L114M O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 116 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.P113S(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CCCCCTGGAGCTGGTGGTGAC 0.602000 33 6 1.26484e-09 2.41654e-08 0.000157383 1 0 PPIAL4G 644591 broad.mit.edu 37 1 143767477 143767477 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:143767477G>T uc001ejt.3 - 0 405 c.372C>A c.(370-372)ggC>ggA p.G124G NM_001123068 NP_001116540 A2BFH1 PAL4G_HUMAN Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA. 124 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 CCACATGCTTGCCATCCAACC 0.483000 490 46 9.53615e-21 3.15086e-19 0.000781405 1 0 RNF20 56254 broad.mit.edu 37 9 104314989 104314989 + Missense_Mutation SNP C T T rs139776458 byFrequency TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr9:104314989C>T uc004bbn.3 + 12 1945 c.1855C>T c.(1855-1857)Cgg>Tgg p.R619W NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN Homo sapiens ring finger protein 20 (RNF20), mRNA. 619 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) TGATGATGGACGGAAAAAGGA 0.368000 25 27 0 0 0.000227799 0 0 DNTT 1791 broad.mit.edu 37 10 98092351 98092351 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr10:98092351C>A uc001kmf.3 + 8 1527 c.1357C>A c.(1357-1359)Cgg>Agg p.R453R DNTT_uc001kmg.3_Silent_p.R453R NM_004088 NP_004079 P04053 TDT_HUMAN Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA. 453 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) GACTGGCTCCCGGGTAAGTGC 0.582000 65 28 3.90053e-15 1.01904e-13 0.000409698 1 0 KPRP 448834 broad.mit.edu 37 1 152732929 152732929 + Nonsense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:152732929G>T uc001fal.1 + 1 923 c.865G>T c.(865-867)Gaa>Taa p.E289* KPRP_uc021ozf.1_Nonsense_Mutation_p.E289* NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA. 289 Pro-rich. cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) AAGACCCTCTGAAGGTTTCCC 0.597000 61 19 9.7654e-05 0.00130601 0.000958276 1 0 NUP205 23165 broad.mit.edu 37 7 135302386 135302386 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:135302386C>A uc003vsw.3 + 26 3758 c.3727C>A c.(3727-3729)Ctt>Att p.L1243I NM_015135 NP_055950 Q92621 NU205_HUMAN Homo sapiens nucleoporin 205kDa (NUP205), mRNA. 1243 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AGTAAATGCCCTTCAGGGTAT 0.398000 30 18 3.5997e-14 8.79109e-13 0.000295444 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84694036 84694036 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:84694036G>A uc002bjz.4 + 26 4728 c.4504G>A c.(4504-4506)Gga>Aga p.G1502R ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G1502R NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 1502 TSP type-1 9. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) TTGCGGTGAAGGATACCACAG 0.522000 27 13 0 0 0.000958276 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19419910 19419910 + RNA SNP A C C TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr13:19419910A>C uc010tcj.1 - 0 c.26200T>G Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. CACTTCTTTCACGTCTTTGTT 0.328000 63 37 0 0 0.000437636 0 0 SPOCK3 50859 broad.mit.edu 37 4 167810285 167810285 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:167810285C>A uc011cjq.1 - 4 678 c.621G>T c.(619-621)aaG>aaT p.K207N SPOCK3_uc021xuf.1_Missense_Mutation_p.K198N|SPOCK3_uc011cjr.1_Missense_Mutation_p.K78N|SPOCK3_uc003iri.1_Missense_Mutation_p.K198N|SPOCK3_uc011cjs.1_Missense_Mutation_p.K147N|SPOCK3_uc003irj.1_Missense_Mutation_p.K195N|SPOCK3_uc011cjt.1_Missense_Mutation_p.K106N|SPOCK3_uc011cjp.2_Missense_Mutation_p.K195N|SPOCK3_uc011cju.1_Missense_Mutation_p.K102N|SPOCK3_uc011cjv.1_Missense_Mutation_p.K100N|SPOCK3_uc003irk.4_Missense_Mutation_p.K195N|SPOCK3_uc011cjw.1_Non-coding_Transcript NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 198 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) ACTTACCTCTCTTAACATTTC 0.333000 34 34 8.73648e-17 2.44143e-15 0.000814825 1 0 MYCL1 4610 broad.mit.edu 37 1 40363545 40363545 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:40363545G>T uc001cer.2 - 2 811 c.684C>A c.(682-684)ccC>ccA p.P228P MYCL1_uc001ces.2_Silent_p.P198P NM_001033082 NP_001028253 P12524 MYCL1_HUMAN Homo sapiens v-myc myelocytomatosis viral oncogene homolog 1, lung carcinoma derived (avian) (MYCL1), transcript variant 2, mRNA. 198 nucleus DNA binding|sequence-specific DNA binding transcription factor activity liver(1)|lung(1) 2 all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|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;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GCTTCATGCAGGGATCCAGGG 0.522000 A small cell lung 44 30 5.60225e-13 1.28967e-11 0.000279167 1 0 HTR1B 3351 broad.mit.edu 37 6 78172118 78172118 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:78172118G>T uc003pil.1 - 0 1003 c.1003C>A c.(1003-1005)Cta>Ata p.L335I NM_000863 NP_000854 P28222 5HT1B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA. 335 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission integral to plasma membrane protein binding|serotonin receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 25 all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332) BRCA - Breast invasive adenocarcinoma(397;0.205) Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315) GGCATCACTAGGGAGATGATG 0.498000 56 13 3.27435e-08 5.64173e-07 0.000219431 1 0 ZZEF1 23140 broad.mit.edu 37 17 3947527 3947527 + Nonsense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:3947527C>A uc002fxe.3 - 37 6221 c.6157G>T c.(6157-6159)Gga>Tga p.G2053* ZZEF1_uc002fxh.3_Nonsense_Mutation_p.G367*|ZZEF1_uc002fxi.3_Nonsense_Mutation_p.G288*|ZZEF1_uc002fxj.1_Nonsense_Mutation_p.G666* NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 2053 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CCTGGAAGTCCTGTAGGTGGG 0.423000 11 28 3.03874e-20 9.80954e-19 0.00058488 1 0 COL11A2 1302 broad.mit.edu 37 6 33145910 33145910 + Splice_Site SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:33145910G>T uc003ocx.1 - 21 2100 c.1872_splice c.e21+1 p.P624_splice COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Splice_Site_p.P538_splice|COL11A2_uc003ocz.1_Splice_Site_p.P517_splice NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 624 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GTCACTTACAGGGGGTCCAGG 0.577000 22 28 1.08312e-15 2.86976e-14 0.000279167 1 0 USHBP1 83878 broad.mit.edu 37 19 17373625 17373625 + Silent SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:17373625C>T uc002nfs.1 - 3 491 c.378G>A c.(376-378)ctG>ctA p.L126L USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Silent_p.L62L|USHBP1_uc010eam.1_Silent_p.L54L NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 126 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 CCAGGGAGCTCAGAGTGTGCT 0.652000 25 20 0 0 0.000132079 0 0 FURIN 5045 broad.mit.edu 37 15 91420142 91420142 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:91420142G>T uc002bpu.1 + 4 605 c.389G>T c.(388-390)cGg>cTg p.R130L NM_002569 NP_002560 P09958 FURIN_HUMAN Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA. 130 Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GTCACTCAGCGGGACCTGAAT 0.567000 258 10 0.000673444 0.00844361 0.000673444 1 0 SPOCK1 6695 broad.mit.edu 37 5 136328235 136328235 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:136328235C>T uc003lbo.3 - 5 835 c.644G>A c.(643-645)gGa>gAa p.G215E SPOCK1_uc003lbp.3_Missense_Mutation_p.G215E NM_004598 NP_004589 Q08629 TICN1_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA. 215 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTGGAGAGCTCCAAACCAATC 0.498000 40 25 0 0 0.000878237 0 0 GALNTL2 117248 broad.mit.edu 37 3 16254193 16254193 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:16254193C>T uc003car.4 + 5 1790 c.1315C>T c.(1315-1317)Cgc>Tgc p.R439C GALNTL2_uc003caq.4_Missense_Mutation_p.R172C NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA. 439 Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R439C(2) NS(2)|breast(3)|endometrium(4)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(1)|stomach(1) 33 GAACAGGGTTCGCATTGCTGA 0.547000 48 46 0 0 0.000781405 0 0 FDXACB1 91893 broad.mit.edu 37 11 111749829 111749829 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:111749829C>A uc001pmc.4 - 0 353 c.28G>T c.(28-30)Ggg>Tgg p.G10W ALG9_uc010rwo.2_5'UTR|FDXACB1_uc009yyi.3_5'UTR|C11orf1_uc001pmd.3_5'Flank|C11orf1_uc001pme.3_5'Flank NM_138378 NP_612387 Q9BRP7 FDXA1_HUMAN Homo sapiens ferredoxin-fold anticodon binding domain containing 1 (FDXACB1), transcript variant 1, mRNA. 10 phenylalanyl-tRNA aminoacylation|tRNA processing ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3) 19 TTCCCCTCCCCAACCAACAGG 0.642000 OREG0010943|OREG0021330 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model 22 6 1.06961e-07 1.78279e-06 0.000157383 1 0 CMYA5 202333 broad.mit.edu 37 5 79030367 79030367 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:79030367G>T uc003kgc.3 + 1 5851 c.5779G>T c.(5779-5781)Ggg>Tgg p.G1927W NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA. 1927 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GCTGAGGCCAGGGCAGCTCAA 0.498000 35 16 1.15088e-07 1.8902e-06 0.000422831 1 0 KRT6B 3854 broad.mit.edu 37 12 52845496 52845496 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:52845496C>A uc001sak.3 - 0 415 c.367G>T c.(367-369)Ggg>Tgg p.G123W NM_005555 NP_005546 P04259 K2C6B_HUMAN Homo sapiens keratin 6B (KRT6B), mRNA. 123 Head. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) CCAGGGCCCCCAAAGCCACCA 0.622000 26 6 2.0095e-06 3.03423e-05 8.12818e-05 1 0 KRT85 3891 broad.mit.edu 37 12 52756730 52756730 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:52756730C>A uc001sag.3 - 5 1105 c.985G>T c.(985-987)Ggg>Tgg p.G329W NM_002283 NP_002274 P78386 KRT85_HUMAN Homo sapiens keratin 85 (KRT85), mRNA. 329 Coil 2.|Rod. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGGGTCTCCCCATGCCTGATC 0.597000 21 18 8.34094e-07 1.28712e-05 0.000132079 1 0 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:102515299G>A uc002cdi.3 + 8 1943 c.523G>A c.(523-525)Ggc>Agc p.G175S WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA. p.G374S(10) central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1) 25 TGGGGGCATCGGCAAGGCCAA 0.652000 18 4 0 0 0.000602214 0 0 SLIT3 6586 broad.mit.edu 37 5 168180101 168180101 + Missense_Mutation SNP A C C TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:168180101A>C uc010jjg.3 - 17 2252 c.1832T>G c.(1831-1833)aTg>aGg p.M611R SLIT3_uc003mab.3_Missense_Mutation_p.M611R NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 611 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTCCTCAGCATCCTACAGGG 0.527000 12 4 0 0 3.59834e-05 0 0 CWH43 80157 broad.mit.edu 37 4 49030677 49030677 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:49030677G>T uc003gyv.3 + 9 1480 c.1298G>T c.(1297-1299)tGg>tTg p.W433L CWH43_uc011bzl.2_Missense_Mutation_p.W406L NM_025087 NP_079363 Q9H720 PG2IP_HUMAN Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA. 433 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GCTGCCATCTGGCCTTTCAGG 0.443000 64 21 3.7963e-18 1.12231e-16 0.00047179 1 0 ROS1 6098 broad.mit.edu 37 6 117609814 117609814 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:117609814C>A uc003pxp.1 - 42 7084 c.6885G>T c.(6883-6885)caG>caT p.Q2295H ROS1_uc011ebi.1_Non-coding_Transcript NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 2295 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATTCAGATTCCTGGGAGCCTA 0.453000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 15 33 4.92203e-23 1.76096e-21 0.000228196 1 0 MOXD1 26002 broad.mit.edu 37 6 132649618 132649618 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:132649618G>T uc003qdf.3 - 4 878 c.779C>A c.(778-780)cCc>cAc p.P260H MOXD1_uc003qde.3_Missense_Mutation_p.P192H NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA. 260 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) GGGCATGTTGGGGTGATAGCA 0.502000 4 9 2.17888e-05 0.000304447 0.000442599 1 0 PCK2 5106 broad.mit.edu 37 14 24568320 24568320 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr14:24568320C>A uc001wlt.3 + 4 859 c.727C>A c.(727-729)Cag>Aag p.Q243K NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Missense_Mutation_p.Q243K|PCK2_uc010tnw.2_Missense_Mutation_p.Q109K|PCK2_uc010ald.2_Missense_Mutation_p.Q95K|PCK2_uc010ale.2_Intron|PCK2_uc010tnx.2_Missense_Mutation_p.Q109K|PCK2_uc001wlu.4_Missense_Mutation_p.Q109K NM_004563 NP_004554 Q16822 PCKGM_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 243 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(265;0.0184) CGTGCCCGACCAGCGGGAGAT 0.642000 36 10 2.74318e-10 5.50301e-09 0.000442599 1 0 ANK3 288 broad.mit.edu 37 10 61834852 61834852 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr10:61834852G>T uc001jky.3 - 36 6125 c.5787C>A c.(5785-5787)ttC>ttA p.F1929L ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1929 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GTTCAGGTTGGAATGGCTTCT 0.408000 26 14 3.27435e-08 5.64173e-07 0.000219431 1 0 NR4A1 3164 broad.mit.edu 37 12 52448610 52448610 + Silent SNP T G G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:52448610T>G uc001rzs.3 + 2 817 c.498T>G c.(496-498)acT>acG p.T166T NR4A1_uc010sno.2_Silent_p.T179T|NR4A1_uc001rzr.2_Silent_p.T166T|NR4A1_uc009zmb.2_Silent_p.T166T|NR4A1_uc001rzt.3_Silent_p.T166T|NR4A1_uc009zmc.3_5'Flank NM_002135 NP_775180 P22736 NR4A1_HUMAN Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA. 166 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) CCAGCCAGACTTACGAAGGCC 0.692000 20 19 0 0 0.000132079 0 0 CRISP3 10321 broad.mit.edu 37 6 49701443 49701443 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:49701443G>T uc021zai.1 - 4 553 c.465C>A c.(463-465)ccC>ccA p.P155P CRISP3_uc003ozs.3_Silent_p.P145P NM_001190986 NP_001177915 P54108 CRIS3_HUMAN Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA. 132 innate immune response proteinaceous extracellular matrix|specific granule breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CCACTGCGTTGGGAGTCTTTG 0.403000 34 37 1.03484e-13 2.48405e-12 0.000191422 1 0 PTGIS 5740 broad.mit.edu 37 20 48124461 48124461 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:48124461G>T uc002xut.3 - 9 1553 c.1499C>A c.(1498-1500)cCa>cAa p.P500Q PTGIS_uc010zyi.2_Missense_Mutation_p.P361Q NM_000961 NP_000952 Q16647 PTGIS_HUMAN Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA. 500 P -> S (in dbSNP:rs5584). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) CCTGTGTCATGGGCGGATGCG 0.637000 28 22 1.88708e-17 5.38058e-16 0.000227799 1 0 NPAS4 266743 broad.mit.edu 37 11 66189596 66189596 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:66189596C>T uc001ohx.1 + 1 357 c.181C>T c.(181-183)Cct>Tct p.P61S NPAS4_uc010rpc.1_5'UTR NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA. 61 transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 TACAGGCACTCCTCTGGCGGG 0.567000 21 11 0 0 0.000219431 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42362987 42362987 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:42362987G>T uc001zox.3 - 17 2066 c.1971C>A c.(1969-1971)ccC>ccA p.P657P NM_178034 NP_828848 Q86XP0 PA24D_HUMAN Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA. 657 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) GGAACATGGAGGGAGAGCTGG 0.642000 6 6 8.12818e-05 0.00108964 8.12818e-05 1 0 NUP210 23225 broad.mit.edu 37 3 13420462 13420462 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:13420462G>T uc003bxv.1 - 7 1078 c.995C>A c.(994-996)gCt>gAt p.A332D NUP210_uc003bxx.3_Missense_Mutation_p.A4D NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 332 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TAACCTAGAAGCACCTTGCAT 0.498000 51 39 1.48734e-19 4.69347e-18 0.000680045 1 0 OR5M10 390167 broad.mit.edu 37 11 56344874 56344874 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:56344874C>A uc001niz.1 - 0 324 c.324G>T c.(322-324)gtG>gtT p.V108V OR8U8_uc001nit.2_Intron NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA. 108 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 ACTCAGTGATCACTAGGGCGA 0.443000 46 27 2.41591e-17 6.81918e-16 0.000720815 1 0 SNRPA 6626 broad.mit.edu 37 19 41269491 41269491 + Splice_Site SNP G A A rs112988221 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:41269491G>A uc002ooz.3 + 5 1156 c.601_splice c.e5-1 p.L201_splice NM_004596 NP_004587 P09012 SNRPA_HUMAN Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA. 201 Pro-rich. nucleoplasm|spliceosomal complex RNA binding|nucleotide binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2) 10 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TACCCCCGCAGCTTTCTGAGA 0.542000 47 8 0 0 0.000442599 0 0 CRTC1 23373 broad.mit.edu 37 19 18885745 18885745 + Silent SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:18885745G>A uc010ebv.3 + 12 1597 c.1509G>A c.(1507-1509)gcG>gcA p.A503A CRTC1_uc002nkb.4_Silent_p.A487A|CRTC1_uc010ebw.3_Intron NM_001098482 NP_001091952 Q6UUV9 CRTC1_HUMAN Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA. 487 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 TTGGGGACGCGTACTATGAGC 0.672000 41 9 0 0 0.000151284 0 0 KRT6A 3853 broad.mit.edu 37 12 52883769 52883769 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:52883769C>A uc001sam.3 - 5 1370 c.1161G>T c.(1159-1161)atG>atT p.M387I NM_005554 NP_005545 P02538 K2C6A_HUMAN Homo sapiens keratin 6A (KRT6A), mRNA. 387 Coil 2.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GCCTCTGGATCATGCGGTTGA 0.567000 24 5 8.12818e-05 0.00108964 8.12818e-05 1 0 PION 54103 broad.mit.edu 37 7 77010642 77010642 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:77010642G>T uc003ugf.3 - 7 635 c.556C>A c.(556-558)Caa>Aaa p.Q186K PION_uc003ugg.1_5'UTR NM_017439 NP_059135 A4D1B5 GSAP_HUMAN Homo sapiens pigeon homolog (Drosophila) (PION), mRNA. 186 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCATCTTCTTGGGCGACATGG 0.299000 37 12 7.03913e-09 1.27957e-07 0.00010058 1 0 TRIM69 140691 broad.mit.edu 37 15 45050916 45050916 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:45050916G>T uc001zuf.2 + 4 1572 c.677G>T c.(676-678)cGg>cTg p.R226L TRIM69_uc001zug.1_Missense_Mutation_p.R226L|TRIM69_uc001zuh.1_Missense_Mutation_p.R67L|TRIM69_uc001zui.1_Missense_Mutation_p.R22L|TRIM69_uc010bdy.1_Missense_Mutation_p.R22L NM_182985 NP_892030 Q86WT6 TRI69_HUMAN Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA. 226 apoptosis nuclear speck zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1) 20 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) ACTGAGCTCCGGGAAGAGGGG 0.468000 31 20 5.35267e-07 8.46928e-06 0.000958276 1 0 AKNA 80709 broad.mit.edu 37 9 117122051 117122051 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr9:117122051G>T uc004biq.3 - 9 2450 c.2315C>A c.(2314-2316)cCa>cAa p.P772Q AKNA_uc004bin.3_Missense_Mutation_p.P19Q|AKNA_uc004bio.3_Missense_Mutation_p.P232Q|AKNA_uc004bip.3_Missense_Mutation_p.P691Q|AKNA_uc004bir.3_Missense_Mutation_p.P772Q|AKNA_uc004bis.3_Missense_Mutation_p.P772Q|AKNA_uc010mve.2_Missense_Mutation_p.P653Q|AKNA_uc004biu.1_Missense_Mutation_p.P513Q|AKNA_uc004biv.1_Missense_Mutation_p.P772Q NM_030767 NP_110394 Q7Z591 AKNA_HUMAN Homo sapiens AT-hook transcription factor (AKNA), mRNA. 772 PEST. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 CATGGCTTCTGGGAGAGACTT 0.592000 9 6 5.9392e-07 9.34467e-06 3.59834e-05 1 0 APOA5 116519 broad.mit.edu 37 11 116661594 116661594 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:116661594C>A uc009yzg.3 - 1 861 c.429G>T c.(427-429)ctG>ctT p.L143L ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Silent_p.L117L|APOA5_uc009yzf.3_Silent_p.L117L Q6Q788 APOA5_HUMAN Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA. 117 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 14 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) TCCAGCCCACCAGCTCGTGCG 0.657000 138 86 2.5963e-48 1.19536e-46 0.000781405 1 0 PRR23C 389152 broad.mit.edu 37 3 138762971 138762971 + Silent SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:138762971C>T uc011bmt.1 - 0 764 c.492G>A c.(490-492)ccG>ccA p.P164P NM_001134657 NP_001128129 Q6ZRP0 PR23C_HUMAN Homo sapiens proline rich 23C (PRR23C), mRNA. 164 breast(2)|lung(7)|skin(2) 11 TCCAGAGCTCCGGGAACTCAG 0.657000 4 4 0 0 0.000602214 0 0 TRNAU1AP 54952 broad.mit.edu 37 1 28887878 28887878 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:28887878C>A uc001bqi.3 + 3 340 c.246C>A c.(244-246)aaC>aaA p.N82K TRNAU1AP_uc001bqh.3_5'UTR|TRNAU1AP_uc010ofw.2_5'UTR NM_017846 NP_060316 Q9NX07 TSAP1_HUMAN Homo sapiens tRNA selenocysteine 1 associated protein 1 (TRNAU1AP), transcript variant 1, mRNA. 82 RRM 1. selenocysteine incorporation cytoplasm|nucleus RNA binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 8 TTAAACTGAACTATGCCACTT 0.378000 19 11 2.32078e-09 4.35982e-08 0.000308642 1 0 ODZ4 26011 broad.mit.edu 37 11 78369483 78369483 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:78369483C>A uc001ozl.4 - 33 8393 c.7930G>T c.(7930-7932)Ggg>Tgg p.G2644W ODZ4_uc001ozk.4_Missense_Mutation_p.G869W NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 2644 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 ACGTTGACCCCATTCTCCAGG 0.552000 15 9 4.68919e-08 7.98157e-07 0.000673444 1 0 CCKBR 887 broad.mit.edu 37 11 6292680 6292680 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:6292680C>A uc001mcp.3 + 4 1506 c.1251C>A c.(1249-1251)ccC>ccA p.P417P CCKBR_uc001mcq.3_Silent_p.P345P|CCKBR_uc001mcr.3_Silent_p.P400P|CCKBR_uc001mcs.3_Silent_p.P486P NM_176875 NP_795344 P32239 GASR_HUMAN Homo sapiens cholecystokinin B receptor (CCKBR), mRNA. 417 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GAGCTCGCCCCAGGGCTCTTC 0.642000 36 6 8.12818e-05 0.00108964 8.12818e-05 1 0 HNRNPA3 220988 broad.mit.edu 37 2 178080308 178080308 + Missense_Mutation SNP T A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:178080308T>A uc002ulb.1 + 1 220 c.114T>A c.(112-114)ttT>ttA p.F38L HNRNPA3_uc002ulc.1_Missense_Mutation_p.F38L|HNRNPA3_uc002uld.2_Missense_Mutation_p.F16L|HNRNPA3_uc002ule.3_5'Flank NM_194247 NP_919223 P51991 ROA3_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein A3 (HNRNPA3), mRNA. 38 RRM 1. catalytic step 2 spliceosome|nucleolus|nucleoplasm RNA binding|nucleotide binding|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1) 16 GAAAACTGTTTATTGGTGGTC 0.393000 26 21 0 0 0.000295444 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46388613 46388613 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:46388613C>A uc002pds.1 - 0 764 c.420G>T c.(418-420)ctG>ctT p.L140L NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA. 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CCTCACGGCCCAGCCCATTGG 0.711000 11 9 1.12685e-05 0.000161057 0.000274275 1 0 NLRP14 338323 broad.mit.edu 37 11 7065065 7065065 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:7065065C>A uc001mfb.1 + 3 2131 c.1808C>A c.(1807-1809)cCa>cAa p.P603Q NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 603 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) AGATGTTTCCCAAAGGTTGCC 0.418000 74 30 1.74807e-11 3.67749e-10 0.000339439 1 0 ADAMTS18 170692 broad.mit.edu 37 16 77397761 77397761 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:77397761C>A uc002ffc.4 - 5 1413 c.994G>T c.(994-996)Ggg>Tgg p.G332W ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G28W|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 332 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CCAATAGTCCCATCTTTAAAT 0.373000 28 15 1.02788e-11 2.21212e-10 0.000566183 1 0 SLC25A34 284723 broad.mit.edu 37 1 16065769 16065769 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:16065769G>T uc001axb.1 + 4 955 c.783G>T c.(781-783)caG>caT p.Q261H NM_207348 NP_997231 Q6PIV7 S2534_HUMAN Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA. 261 transport integral to membrane|mitochondrial inner membrane NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1) 9 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTGGCGGCAGGAGGGCCCCC 0.652000 24 11 1.58986e-06 2.4267e-05 0.000673444 1 0 BTBD8 284697 broad.mit.edu 37 1 92612820 92612820 + Nonsense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:92612820C>A uc001doo.3 + 7 1281 c.1014C>A c.(1012-1014)tgC>tgA p.C338* BTBD8_uc010otc.2_Non-coding_Transcript NM_183242 NP_899065 Q5XKL5 BTBD8_HUMAN Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA. 338 nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) TTGCTGACTGCATGAAGTAAG 0.353000 49 25 2.79863e-10 5.59428e-09 0.000720815 1 0 NOMO1 23420 broad.mit.edu 37 16 14970250 14970250 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:14970250G>T uc002dcv.3 + 20 2457 c.2391G>T c.(2389-2391)ggG>ggT p.G797G Mir_548_uc021tdj.1_5'Flank NM_014287 NP_055102 Q15155 NOMO1_HUMAN Homo sapiens NODAL modulator 1 (NOMO1), mRNA. 797 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 AGATCCATGGGAAGGCAGGCC 0.522000 53 34 9.62906e-15 2.44735e-13 0.000228196 1 0 SUPT6H 6830 broad.mit.edu 37 17 27027482 27027482 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:27027482C>A uc010crt.3 + 35 4950 c.4758C>A c.(4756-4758)tcC>tcA p.S1586S SUPT6H_uc002hby.3_Silent_p.S1586S NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 1586 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) AGTGGGCCTCCAGCCAGTACG 0.612000 62 26 4.11147e-35 1.74955e-33 0.000692331 1 0 LRP6 4040 broad.mit.edu 37 12 12278234 12278235 + Missense_Mutation DNP GG TT TT TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:12278234_12278235GG>TT uc001rah.4 - 20 4586_4587 c.4444_4445CC>AA c.(4444-4446)cct>AAt p.P1482N BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P1437N NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 1482 Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) ACTTACTGCAGGGAAGTAAGTG 0.421000 246 9 0 0 6.4e-05 0 0 OR4M1 441670 broad.mit.edu 37 14 20248596 20248596 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr14:20248596C>A uc010tku.2 + 0 115 c.115C>A c.(115-117)Cta>Ata p.L39I NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTTGTTCATCCTACCAGGAAA 0.423000 106 69 2.92363e-43 1.31376e-41 0.000781405 1 0 HDAC3 8841 broad.mit.edu 37 5 141016144 141016144 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:141016144G>T uc003llf.2 - 1 175 c.109C>A c.(109-111)Ctg>Atg p.L37M HDAC3_uc003lle.1_5'Flank|HDAC3_uc010jgd.1_Missense_Mutation_p.L37M|HDAC3_uc010jge.1_Non-coding_Transcript|RELL2_uc003lli.3_5'Flank|RELL2_uc003llh.3_5'Flank NM_003883 NP_003874 O15379 HDAC3_HUMAN Homo sapiens histone deacetylase 3 (HDAC3), mRNA. 37 Histone deacetylase. anti-apoptosis|cellular lipid metabolic process|negative regulation of JNK cascade|negative regulation of cell cycle|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|transcription corepressor activity|transcription factor binding endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Vorinostat(DB02546) CCGTAATGCAGGACCAGGCTA 0.622000 16 10 3.07112e-06 4.51583e-05 6.40141e-05 1 0 CUX1 1523 broad.mit.edu 37 7 101870822 101870822 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:101870822C>A uc003uys.4 + 20 3466 c.3339C>A c.(3337-3339)ccC>ccA p.P1113P CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.P1102P NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 1102 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 ACTCCCAGCCCACAACCCCGC 0.647000 19 7 0.000157383 0.00205587 0.000157383 1 0 DMRTA1 63951 broad.mit.edu 37 9 22447217 22447217 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr9:22447217C>A uc003zpp.1 + 0 378 c.153C>A c.(151-153)ccC>ccA p.P51P NM_022160 NP_071443 Q5VZB9 DMRTA_HUMAN Homo sapiens DMRT-like family A1 (DMRTA1), mRNA. 51 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) TGCGGCCGCCCAGCCTCTTTC 0.766000 14 4 0.000602214 0.00760143 0.000602214 1 0 USP29 57663 broad.mit.edu 37 19 57642237 57642237 + Nonsense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:57642237G>T uc002qny.3 + 3 2550 c.2194G>T c.(2194-2196)Gaa>Taa p.E732* USP29_uc021vci.1_Nonsense_Mutation_p.E732* NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 732 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGGAATGGCTGAACAGCTCCA 0.448000 19 19 1.40151e-16 3.87797e-15 0.000175454 1 0 FAM46C 54855 broad.mit.edu 37 1 118166425 118166425 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:118166425G>T uc021osq.1 + 0 935 c.935G>T c.(934-936)aGg>aTg p.R312M FAM46C_uc001ehe.3_Missense_Mutation_p.R312M NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA. 312 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) ATCCTTCGCAGGGTGGTGAAC 0.537000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 23 18 3.32936e-07 5.34315e-06 0.00074312 1 0 JUP 3728 broad.mit.edu 37 17 39919252 39919252 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:39919252G>T uc002hxq.2 - 7 1757 c.1480C>A c.(1480-1482)Cag>Aag p.Q494K JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.Q494K|JUP_uc002hxs.2_Missense_Mutation_p.Q494K NM_021991 NP_068831 P14923 PLAK_HUMAN Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA. 494 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) AGTGGCCACTGGTTGGGCTGG 0.587000 34 10 1.33987e-11 2.86162e-10 0.000673444 1 0 KIF4A 24137 broad.mit.edu 37 X 69640028 69640028 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chrX:69640028G>T uc004dyg.3 + 30 3755 c.3612G>T c.(3610-3612)aaG>aaT p.K1204N KIF4A_uc010nkw.3_Missense_Mutation_p.K1204N|GDPD2_uc010nkx.2_5'Flank|GDPD2_uc010nky.2_5'Flank|GDPD2_uc011mpk.2_5'Flank|GDPD2_uc004dyh.3_5'Flank|GDPD2_uc011mpl.2_5'Flank|GDPD2_uc011mpm.2_5'Flank NM_012310 NP_036442 O95239 KIF4A_HUMAN Homo sapiens kinesin family member 4A (KIF4A), mRNA. 1204 Globular.|Interaction with PRC1. anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization chromosome|cytosol|midbody|nuclear matrix|spindle microtubule ATP binding|DNA binding|microtubule motor activity|protein binding breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 51 AAGAAAACAAGGCTCCAGGGA 0.527000 2 14 4.36969e-10 8.55211e-09 0.000151284 1 0 CCDC62 84660 broad.mit.edu 37 12 123285855 123285855 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:123285855G>T uc001udc.3 + 8 1324 c.1162G>T c.(1162-1164)Ggg>Tgg p.G388W CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Missense_Mutation_p.G149W|CCDC62_uc021rfn.1_Missense_Mutation_p.G203W NM_201435 NP_958843 Q6P9F0 CCD62_HUMAN Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA. 388 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) TACTGTGTTTGGGGAGAAAAG 0.428000 24 13 3.27435e-08 5.64173e-07 0.000219431 1 0 SLC6A1 6529 broad.mit.edu 37 3 11064047 11064047 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:11064047G>T uc010hdq.3 + 6 1018 c.607G>T c.(607-609)Ggg>Tgg p.G203W NM_003042 NP_003033 P30531 SC6A1_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA. 203 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) GATGACGGACGGGCTGGATAA 0.597000 8 8 3.09899e-07 4.98768e-06 0.000274275 1 0 TRAF3IP3 80342 broad.mit.edu 37 1 209953951 209953951 + Splice_Site SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:209953951G>T uc001hho.3 + 15 1869 c.1449_splice c.e15+1 p.E483_splice TRAF3IP3_uc001hhn.3_Splice_Site_p.E463_splice|TRAF3IP3_uc009xcr.3_Splice_Site_p.E483_splice NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA. 483 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) AGGAAAAGGAGGTGAGAGGGT 0.493000 56 10 4.68919e-08 7.98157e-07 0.000673444 1 0 FRAS1 80144 broad.mit.edu 37 4 79418010 79418010 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:79418010G>A uc003hlb.2 + 59 9450 c.9010G>A c.(9010-9012)Gaa>Aaa p.E3004K FRAS1_uc003hlc.1_Missense_Mutation_p.E6K NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 2999 Calx-beta 4. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGAGCCAGAGGAACAGTTCAG 0.448000 88 121 0 0 0.000781405 0 0 HMHA1 23526 broad.mit.edu 37 19 1084305 1084305 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:1084305G>T uc002lqz.1 + 21 3255 c.3024G>T c.(3022-3024)gtG>gtT p.V1008V HMHA1_uc010xgd.1_Silent_p.V1024V|HMHA1_uc010xge.1_Silent_p.V876V|HMHA1_uc002lra.1_Silent_p.V848V|HMHA1_uc002lrb.1_Silent_p.V891V|HMHA1_uc002lrc.1_Silent_p.V643V NM_012292 NP_036424 Q92619 HMHA1_HUMAN Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA. 1008 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGAGGCGGTGGTCTACCCGC 0.682000 36 23 3.62473e-10 7.16906e-09 0.000229342 1 0 TUBB6 84617 broad.mit.edu 37 18 12325368 12325368 + Nonsense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr18:12325368G>T uc002kqw.3 + 3 615 c.580G>T c.(580-582)Gag>Tag p.E194* TUBB6_uc002kqv.3_Nonsense_Mutation_p.E122*|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron NM_032525 NP_115914 Q9BUF5 TBB6_HUMAN Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA. 194 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1) 14 READ - Rectum adenocarcinoma(1;0.0649) CCAGCTGGTGGAGAATACAGA 0.587000 53 24 1.04121e-07 1.74062e-06 0.000878237 1 0 SLC7A10 56301 broad.mit.edu 37 19 33703778 33703778 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:33703778C>T uc002num.2 - 2 634 c.487G>A c.(487-489)Gtg>Atg p.V163M SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.2_Missense_Mutation_p.V136M NM_019849 NP_062823 Q9NS82 AAA1_HUMAN Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA. 163 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity p.R162W(1) central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) ATGGACAGCACCCGGGAGGCT 0.632000 43 20 0 0 0.000175454 0 0 UBAC2 337867 broad.mit.edu 37 13 99896180 99896180 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr13:99896180G>T uc010tiu.2 + 2 655 c.320G>T c.(319-321)aGa>aTa p.R107I UBAC2_uc001voa.4_Missense_Mutation_p.R85I|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Non-coding_Transcript|UBAC2_uc001vod.3_5'UTR|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Non-coding_Transcript|MIR548AN_uc021rly.1_Intron NM_177967 NP_808882 Q8NBM4 UBAC2_HUMAN Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA. 85 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2) 10 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ATATTTGAAAGAAGATATGGA 0.274000 1 3 6.4e-05 0.000870623 6.4e-05 1 0 CNGB3 54714 broad.mit.edu 37 8 87738864 87738864 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr8:87738864G>A uc003ydx.3 - 2 281 c.233C>T c.(232-234)tCc>tTc p.S78F NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 78 signal transduction|visual perception integral to membrane cGMP binding p.S78F(2) NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ATCTCCAGAGGAATTTTTCTT 0.428000 142 73 0 0 0.000781405 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276723 15276723 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:15276723G>T uc002nan.3 - 29 5618 c.5542C>A c.(5542-5544)Cgt>Agt p.R1848S NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 1848 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CGGGCATAACGGGCAGCCAGG 0.627000 14 12 0.00010058 0.00133876 0.00010058 1 0 CDH26 60437 broad.mit.edu 37 20 58571080 58571080 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:58571080C>A uc002ybe.3 + 11 2170 c.1859C>A c.(1858-1860)cCt>cAt p.P620H CDH26_uc002ybf.1_Missense_Mutation_p.P200H|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_5'Flank|CDH26_uc002ybi.3_5'Flank NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA. 620 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GCCCTGTTCCCTGTCTGTGCA 0.592000 19 18 0.000229342 0.00298889 0.000229342 1 0 HELQ 113510 broad.mit.edu 37 4 84350799 84350799 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:84350799G>T uc003hom.3 - 11 2575 c.2396C>A c.(2395-2397)aCt>aAt p.T799N HELQ_uc010ikb.3_Missense_Mutation_p.T732N|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript NM_133636 NP_598375 Q8TDG4 HELQ_HUMAN Homo sapiens helicase, POLQ-like (HELQ), mRNA. 799 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2) 38 TGATTCAACAGTTATTTCCCA 0.313000 Other identified genes with known or suspected DNA repair function 44 24 2.70639e-06 4.04303e-05 0.000295444 1 0 F3 2152 broad.mit.edu 37 1 94997946 94997946 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:94997946G>T uc001dqr.3 - 4 903 c.682C>A c.(682-684)Cga>Aga p.R228R F3_uc001dqp.2_Non-coding_Transcript|F3_uc001dqq.2_Intron|F3_uc001dqs.3_Intron NM_001993 NP_001984 P13726 TF_HUMAN Homo sapiens coagulation factor III (thromboplastin, tissue factor) (F3), transcript variant 1, mRNA. 228 activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) TTAACTGTTCGGGAGGGAATC 0.463000 28 19 8.34094e-07 1.28712e-05 0.000132079 1 0 RGS12 6002 broad.mit.edu 37 4 3318150 3318150 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:3318150G>T uc003ggw.3 + 1 1157 c.253G>T c.(253-255)Ggg>Tgg p.G85W RGS12_uc003ggu.2_Missense_Mutation_p.G85W|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.G85W|RGS12_uc003ggx.1_Missense_Mutation_p.G85W NM_198229 NP_937872 O14924 RGS12_HUMAN Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA. 85 PDZ. condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GAAATTAATTGGGAAGTGCTC 0.488000 50 11 5.50884e-06 7.97504e-05 0.00010058 1 0 EIF5 1983 broad.mit.edu 37 14 103807359 103807359 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr14:103807359G>T uc001ymt.3 + 10 1761 c.1266G>T c.(1264-1266)aaG>aaT p.K422N EIF5_uc001ymq.3_Missense_Mutation_p.K422N|EIF5_uc001ymr.3_Missense_Mutation_p.K422N|EIF5_uc001ymu.3_Missense_Mutation_p.K422N NM_183004 NP_892116 P55010 IF5_HUMAN Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 2, mRNA. 422 RNA metabolic process|regulation of translational initiation cytosol GTP binding|GTPase activity|translation initiation factor activity breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(154;0.155) Epithelial(46;0.182) CAGACAACAAGGATGACGACA 0.393000 64 38 1.23103e-26 4.73609e-25 0.000680045 1 0 MYO18A 399687 broad.mit.edu 37 17 27442428 27442428 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:27442428C>A uc002hdt.1 - 12 2417 c.2259G>T c.(2257-2259)gaG>gaT p.E753D MYO18A_uc010wbc.1_Missense_Mutation_p.E295D|MYO18A_uc002hds.2_Missense_Mutation_p.E295D|MYO18A_uc010csa.1_Missense_Mutation_p.E753D|MYO18A_uc002hdu.1_Missense_Mutation_p.E753D|MYO18A_uc010wbd.1_Missense_Mutation_p.E422D NM_078471 NP_510880 Q92614 MY18A_HUMAN Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA. 753 Myosin head-like. DNA metabolic process|anti-apoptosis ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CCGCCATGCCCTCAAGGCACT 0.632000 32 16 7.45023e-12 1.62201e-10 0.000175454 1 0 GLB1L2 89944 broad.mit.edu 37 11 134239754 134239754 + Silent SNP T C C TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:134239754T>C uc001qhp.3 + 10 1271 c.1083T>C c.(1081-1083)ctT>ctC p.L361L GLB1L2_uc009zdg.1_Non-coding_Transcript NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA. 361 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) ACATGAAGCTTCGAGACTTCT 0.547000 36 14 0 0 0.000219431 0 0 SUGP2 10147 broad.mit.edu 37 19 19106039 19106039 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:19106039C>A uc002nkz.1 - 8 3104 c.3084G>T c.(3082-3084)ctG>ctT p.L1028L SUGP2_uc002nkx.2_Silent_p.L1014L|SUGP2_uc002nla.1_Silent_p.L1014L|SUGP2_uc002nlb.2_Silent_p.L1014L|SUGP2_uc010xqk.1_Silent_p.L783L NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA. 1014 G-patch. RNA splicing|mRNA processing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TCTGGAAGCCCAGGTTCTTAT 0.612000 19 5 5.9392e-07 9.34467e-06 3.59834e-05 1 0 EFCAB6 64800 broad.mit.edu 37 22 44107483 44107483 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:44107483C>A uc003bdy.2 - 9 1217 c.903G>T c.(901-903)aaG>aaT p.K301N EFCAB6_uc003bdz.2_Missense_Mutation_p.K149N|EFCAB6_uc010gzi.2_Missense_Mutation_p.K149N|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_Missense_Mutation_p.K195N|EFCAB6_uc003bea.2_Missense_Mutation_p.K298N NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 301 EF-hand 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CCTTTTCAACCTTTTCATAAG 0.368000 11 15 3.45872e-05 0.000479694 0.000422831 1 0 PNKD 25953 broad.mit.edu 37 2 219204768 219204768 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:219204768C>A uc002vhn.3 + 3 513 c.369C>A c.(367-369)ccC>ccA p.P123P PNKD_uc002vhq.3_Silent_p.P99P NM_015488 NP_056303 Q8N490 PNKD_HUMAN Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 123 membrane|mitochondrion|nucleus hydroxyacylglutathione hydrolase activity|zinc ion binding p.P123R(1) NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 10 Renal(207;0.0474) Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGGTGCTTCCCATCCCTGTCC 0.647000 26 15 2.32078e-09 4.35982e-08 0.000308642 1 0 KANSL1 284058 broad.mit.edu 37 17 44111638 44111638 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:44111638C>A uc002ikc.3 - 10 3026 c.2555G>T c.(2554-2556)aGg>aTg p.R852M KANSL1_uc002ikd.3_Missense_Mutation_p.R852M|KANSL1_uc010dav.3_Missense_Mutation_p.R851M|KANSL1_uc010wkb.2_Missense_Mutation_p.R183M|KANSL1_uc010wkc.2_Missense_Mutation_p.R120M NM_001193466 NP_056258 Q7Z3B3 K1267_HUMAN Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA. 852 MLL1 complex protein binding CCTTCTCCTCCTTACTGGCTG 0.378000 63 12 1.61879e-10 3.29448e-09 0.00010058 1 0 GALNT13 114805 broad.mit.edu 37 2 155265526 155265526 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:155265526G>T uc002tyt.4 + 8 1431 c.1327G>T c.(1327-1329)Gac>Tac p.D443Y GALNT13_uc002tyr.4_Missense_Mutation_p.D443Y|GALNT13_uc010foc.1_Missense_Mutation_p.D262Y|GALNT13_uc010fod.3_Missense_Mutation_p.D196Y NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 443 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TCAGTGTTTAGACAACATGGG 0.368000 36 31 8.53417e-09 1.54137e-07 0.000491102 1 0 ZNF75D 7626 broad.mit.edu 37 X 134427680 134427680 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chrX:134427680C>A uc022ceq.1 - 1 777 c.387G>T c.(385-387)agG>agT p.R129S DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.R129S NM_007131 NP_009062 P51815 ZN75D_HUMAN Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA. 129 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 CATCAGGCTCCCTCTGCAAGA 0.453000 8 65 3.13743e-37 1.35561e-35 0.000781405 1 0 FCGR3B 2215 broad.mit.edu 37 1 161594326 161594326 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:161594326G>T uc009wul.3 - 4 1049 c.789C>A c.(787-789)ttC>ttA p.F263L FCGR3B_uc021pdo.1_Missense_Mutation_p.F227L NM_001244753 NP_001231682 O75015 FCG3B_HUMAN Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA. 227 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 18 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TCTTCACAGAGAAATATAGTC 0.463000 45 87 2.78983e-34 1.16944e-32 0.000781405 1 0 HDAC10 83933 broad.mit.edu 37 22 50686332 50686332 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:50686332C>T uc003bkg.3 - 12 1697 c.1324G>A c.(1324-1326)Gaa>Aaa p.E442K TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc010hav.3_Missense_Mutation_p.E422K|HDAC10_uc003bkh.3_Missense_Mutation_p.E235K|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_Missense_Mutation_p.E76K NM_032019 NP_114408 Q969S8 HDA10_HUMAN Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA. 442 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCCCAGGCTTCTGTCTCCTCC 0.632000 10 16 0 0 0.000375601 0 0 MUC16 94025 broad.mit.edu 37 19 9082643 9082643 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:9082643C>A uc002mkp.3 - 0 9376 c.9172G>T c.(9172-9174)Ggg>Tgg p.G3058W NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 3059 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGGAAGGCCCAAGAAATAGT 0.488000 54 45 1.03325e-14 2.6143e-13 0.000589545 1 0 KCNJ1 3758 broad.mit.edu 37 11 128709265 128709265 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:128709265G>T uc001qeo.1 - 1 982 c.931C>A c.(931-933)Cgg>Agg p.R311R KCNJ1_uc001qep.1_Silent_p.R292R|KCNJ1_uc001qeq.1_Silent_p.R292R|KCNJ1_uc001qer.1_Silent_p.R292R|KCNJ1_uc001qes.1_Silent_p.R292R|KCNJ1_uc021qsb.1_Silent_p.R292R NM_000220 NP_000211 P48048 IRK1_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA. 311 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) TAGGATGTCCGGACTTGGCAG 0.498000 29 11 4.68919e-08 7.98157e-07 0.000673444 1 0 C10orf54 64115 broad.mit.edu 37 10 73511607 73511607 + Missense_Mutation SNP C T T rs141431398 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr10:73511607C>T uc001jsd.3 - 5 857 c.716G>A c.(715-717)gGg>gAg p.G239E CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Missense_Mutation_p.G107E NM_022153 NP_071436 Q9H7M9 GI24_HUMAN Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA. 239 integral to membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 9 GTTTTCAATCCCTTGAATGTT 0.587000 17 12 0 0 0.000308642 0 0 abParts 0 broad.mit.edu 37 14 106667806 106667806 + RNA SNP T G G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr14:106667806T>G uc021ser.1 - 1314 c.27121A>C Parts of antibodies, mostly variable regions. ATCCAGAGGCTGCACAGGAGA 0.577000 44 18 0 0 0.000566183 0 0 ELFN2 114794 broad.mit.edu 37 22 37770177 37770177 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:37770177G>T uc003asq.4 - 2 2184 c.1398C>A c.(1396-1398)ccC>ccA p.P466P ELFN2_uc021wph.1_Silent_p.P466P NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 466 cell surface|integral to membrane p.P466P(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) TGCGAGATACGGGCAGCACGG 0.647000 104 42 3.77016e-25 1.4118e-23 0.000680045 1 0 PROSER1 80209 broad.mit.edu 37 13 39587682 39587682 + Silent SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr13:39587682C>T uc001uwy.3 - 10 2580 c.1707G>A c.(1705-1707)acG>acA p.T569T PROSER1_uc001uwz.3_Silent_p.T547T NM_025138 NP_079414 Q86XN7 CM023_HUMAN Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA. 569 Ser-rich. CTGGCACTGACGTGGAAGCTG 0.572000 270 24 0 0 0.000375601 0 0 RNF146 81847 broad.mit.edu 37 6 127607950 127607950 + Silent SNP T G G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:127607950T>G uc021zes.1 + 2 328 c.192T>G c.(190-192)gcT>gcG p.A64A RNF146_uc021zet.1_Silent_p.A63A|RNF146_uc021zeu.1_Silent_p.A63A|RNF146_uc021zev.1_Silent_p.A63A|RNF146_uc021zew.1_Silent_p.A64A|RNF146_uc003qat.3_Silent_p.A63A|RNF146_uc021zex.1_Silent_p.A63A|RNF146_uc003qaw.3_Silent_p.A63A|RNF146_uc003qau.3_Silent_p.A63A|RNF146_uc003qav.3_Silent_p.A64A|RNF146_uc021zey.1_Silent_p.A63A NM_001242851 NP_001229780 Q9NTX7 RN146_HUMAN Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA. 64 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.S64T(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2) TAAAAGGAGCTTCATGGCTTG 0.463000 14 25 0 0 0.000720815 0 0 CSPG4 1464 broad.mit.edu 37 15 75981198 75981198 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:75981198C>A uc002baw.3 - 2 2301 c.2208G>T c.(2206-2208)gtG>gtT p.V736V NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA. 736 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 GGCCCTGCTCCACATCCCGCT 0.667000 22 14 2.32078e-09 4.35982e-08 0.000308642 1 0 ACTR3C 653857 broad.mit.edu 37 7 149981869 149981869 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:149981869G>T uc003wgu.2 - 5 727 c.537C>A c.(535-537)ccC>ccA p.P179P ACTR3C_uc022aps.1_Silent_p.P179P NM_001164459 NP_001157931 Q9C0K3 ARP3C_HUMAN Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA. 179 regulation of actin filament polymerization cytoskeleton ATP binding|actin binding GCACATCGATGGGGCAGTTCT 0.403000 25 15 5.3912e-06 7.82491e-05 0.00074312 1 0 COL27A1 85301 broad.mit.edu 37 9 116931364 116931364 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr9:116931364C>A uc011lxl.2 + 2 1529 c.1529C>A c.(1528-1530)cCa>cAa p.P510Q COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.P360Q NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 510 Pro-rich. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 ATGGTACCTCCAACTTCGGGC 0.582000 57 34 3.6622e-26 1.3899e-24 0.000692331 1 0 FGFR2 2263 broad.mit.edu 37 10 123325091 123325091 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr10:123325091C>A uc021pzz.1 - 2 884 c.237G>T c.(235-237)ttG>ttT p.L79F FGFR2_uc021pzv.1_Missense_Mutation_p.L79F|FGFR2_uc021pzw.1_Intron|FGFR2_uc021pzx.1_Intron|FGFR2_uc021pzy.1_Missense_Mutation_p.L79F|FGFR2_uc010qtl.2_Missense_Mutation_p.L79F|FGFR2_uc010qtm.2_Intron|FGFR2_uc021qaa.1_Missense_Mutation_p.L79F|FGFR2_uc021qab.1_Intron|FGFR2_uc021qac.1_Intron|FGFR2_uc001lfn.4_Intron|FGFR2_uc010qtn.2_Missense_Mutation_p.L98F|FGFR2_uc010qto.2_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.L98F|FGFR2_uc010qtp.2_Missense_Mutation_p.L98F|FGFR2_uc010qtq.2_Missense_Mutation_p.L98F NM_000141 NP_000132 P21802 FGFR2_HUMAN Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA. 79 Ig-like C2-type 1. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) TGTTGGGCCCCAAGTGCACCC 0.567000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 58 31 9.04072e-19 2.7156e-17 0.00058488 1 0 ZNF577 84765 broad.mit.edu 37 19 52381728 52381728 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:52381728C>A uc010yde.2 - 4 492 c.101G>T c.(100-102)aGg>aTg p.R34M ZNF577_uc010ydd.1_Non-coding_Transcript|ZNF577_uc002pxx.4_Missense_Mutation_p.R34M|ZNF577_uc002pxv.3_Missense_Mutation_p.R27M|ZNF577_uc002pxw.3_Missense_Mutation_p.R27M NM_032679 NP_116068 Q9BSK1 ZN577_HUMAN Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA. 34 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CCACTCCTCCCTGGTGAAGCC 0.438000 57 12 0.000151284 0.0020089 0.000151284 1 0 KANSL2 54934 broad.mit.edu 37 12 49061513 49061513 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:49061513G>T uc001rrz.2 - 5 1529 c.1485C>A c.(1483-1485)tcC>tcA p.S495S KANSL2_uc001rrw.2_Silent_p.S117S|KANSL2_uc001rrx.2_Silent_p.S312S|KANSL2_uc001rry.2_Non-coding_Transcript|SNORA2B_uc001rsc.1_5'Flank NM_017822 NP_060292 Q9H9L4 CL041_HUMAN Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA. 312 GAGACTGATTGGAACAACGAA 0.443000 54 39 2.47872e-24 9.1e-23 0.000509022 1 0 JUP 3728 broad.mit.edu 37 17 39912104 39912104 + Silent SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:39912104G>A uc002hxq.2 - 13 2407 c.2130C>T c.(2128-2130)ccC>ccT p.P710P JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.P710P|JUP_uc002hxs.2_Silent_p.P710P NM_021991 NP_068831 P14923 PLAK_HUMAN Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA. 710 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GCGGGTCAAGGGGCACATCGC 0.617000 20 7 0 0 8.12818e-05 0 0 TNXB 7148 broad.mit.edu 37 6 32062857 32062857 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:32062857G>T uc003nzl.2 - 3 2556 c.2354C>A c.(2353-2355)cCc>cAc p.P785H NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 747 actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCTCACCGTGGGGATGAACTG 0.587000 265 9 3.86212e-05 0.000530404 0.000673444 1 0 ITGA7 3679 broad.mit.edu 37 12 56094079 56094079 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:56094079G>T uc001shh.3 - 4 989 c.769C>A c.(769-771)Cgc>Agc p.R257S ITGA7_uc001shg.3_Intron|ITGA7_uc010sps.2_Missense_Mutation_p.R160S|ITGA7_uc009znx.3_Intron NM_001144996 NP_001138468 Q13683 ITA7_HUMAN Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA. 257 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GGGATGAGGCGGGGGTCCTGC 0.652000 10 8 0.000274275 0.00353349 0.000274275 1 0 OR52E6 390078 broad.mit.edu 37 11 5862851 5862851 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:5862851C>T uc010qzq.2 - 0 277 c.277G>A c.(277-279)Gaa>Aaa p.E93K TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGATATTTCCTTGATATTG 0.473000 67 53 0 0 0.000781405 0 0 HDAC10 83933 broad.mit.edu 37 22 50686482 50686482 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:50686482C>T uc003bkg.3 - 12 1547 c.1174G>A c.(1174-1176)Gca>Aca p.A392T HDAC10_uc010hav.3_Missense_Mutation_p.A372T|HDAC10_uc003bkh.3_Missense_Mutation_p.A185T|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_Missense_Mutation_p.A26T NM_032019 NP_114408 Q969S8 HDA10_HUMAN Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA. 392 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGTGCAGATGCAGCTGCCTTA 0.652000 11 38 0 0 0.000814825 0 0 FCER1A 2205 broad.mit.edu 37 1 159275846 159275846 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:159275846G>T uc001ftq.3 + 4 497 c.400G>T c.(400-402)Ggt>Tgt p.G134C NM_002001 NP_001992 P12319 FCERA_HUMAN Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA. 134 Ig-like 2. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) CAGGTGCCATGGTTGGAGGAA 0.468000 56 19 1.00905e-13 2.43254e-12 0.000132079 1 0 NFKB1 4790 broad.mit.edu 37 4 103517372 103517372 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:103517372G>T uc011ceq.2 + 13 1842 c.1375G>T c.(1375-1377)Ggg>Tgg p.G459W NFKB1_uc011cep.2_Missense_Mutation_p.G460W|NFKB1_uc011cer.2_Missense_Mutation_p.G279W NM_001165412 NP_001158884 P19838 NFKB1_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA. 459 Interaction with CFLAR. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 I-kappaB/NF-kappaB complex|cytosol|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) AAACCTCTTTGGGAAAGTTAT 0.428000 64 24 2.89027e-11 6.03518e-10 0.000295444 1 0 NOS1 4842 broad.mit.edu 37 12 117696876 117696876 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:117696876C>A uc001twn.2 - 14 3138 c.2427G>T c.(2425-2427)gtG>gtT p.V809V NOS1_uc021ren.1_Silent_p.V473V|NOS1_uc021reo.1_Silent_p.V473V|NOS1_uc001twm.2_Silent_p.V809V NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 809 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGCTGGTGACCACAAGGACCA 0.502000 35 17 3.62473e-10 7.16906e-09 0.000229342 1 0 HERC2 8924 broad.mit.edu 37 15 28538062 28538062 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:28538062C>A uc001zbj.3 - 3 400 c.294G>T c.(292-294)ctG>ctT p.L98L HERC2_uc001zbl.1_5'UTR NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 98 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CCCAGCTGTCCAGAATTGACT 0.418000 28 15 1.45105e-14 3.63864e-13 0.00074312 1 0 UFM1 51569 broad.mit.edu 37 13 38924142 38924142 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr13:38924142G>T uc001uwu.3 + 1 124 c.9G>T c.(7-9)aaG>aaT p.K3N UFM1_uc010abz.2_Missense_Mutation_p.K3N|UFM1_uc010aca.2_Missense_Mutation_p.K3N NM_016617 NP_057701 P61960 UFM1_HUMAN Homo sapiens ubiquitin-fold modifier 1 (UFM1), mRNA. 3 protein ufmylation cytoplasm|nucleus protein binding lung(2)|ovary(1) 3 Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132) TCAGGTCGAAGGTTTCCTTTA 0.577000 250 36 3.33393e-15 8.7508e-14 0.000953801 1 0 PRR13 54458 broad.mit.edu 37 12 53839807 53839807 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:53839807C>A uc001scz.4 + 3 575 c.411C>A c.(409-411)tcC>tcA p.S137S PRR13_uc001scy.4_Silent_p.S87S|PCBP2_uc010soh.1_Intron|PRR13_uc001sda.4_Silent_p.S137S NM_018457 NP_060927 Q9NZ81 PRR13_HUMAN Homo sapiens proline rich 13 (PRR13), transcript variant 2, mRNA. 137 Ser-rich. S -> P (in Ref. 3; CAE45980). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(1)|urinary_tract(1) 6 AGCATTCCTCCTCTTCCTCCT 0.532000 51 38 8.48111e-28 3.30822e-26 0.000781405 1 0 KRT75 9119 broad.mit.edu 37 12 52827670 52827670 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:52827670G>T uc001saj.2 - 0 441 c.419C>A c.(418-420)cCc>cAc p.P140H NM_004693 NP_004684 O95678 K2C75_HUMAN Homo sapiens keratin 75 (KRT75), mRNA. 140 Head. keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) CTGGATGGTGGGGTCGATTTG 0.597000 33 18 1.01871e-10 2.10372e-09 0.000132079 1 0 APOD 347 broad.mit.edu 37 3 195300832 195300832 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:195300832C>A uc003fur.2 - 2 496 c.134G>T c.(133-135)aGa>aTa p.R45I APOD_uc011bsx.1_Missense_Mutation_p.R45I NM_001647 NP_001638 P05090 APOD_HUMAN Homo sapiens apolipoprotein D (APOD), mRNA. 45 lipid metabolic process extracellular space lipid binding|lipid transporter activity|protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TTCGTACCATCTTCCGAGATA 0.488000 43 18 2.37509e-13 5.62907e-12 0.000175454 1 0 FLJ43860 389690 broad.mit.edu 37 8 142458048 142458048 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr8:142458048G>T uc003ywi.2 - 21 2856 c.2775C>A c.(2773-2775)ccC>ccA p.P925P FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN Homo sapiens FLJ43860 protein (FLJ43860), mRNA. 926 binding all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CCTGCTGCTTGGGCTAGGGCT 0.652000 5 5 1.23904e-05 0.000174428 0.000602214 1 0 CYP27C1 339761 broad.mit.edu 37 2 127950714 127950714 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:127950714C>A uc002tod.2 - 6 1089 c.958G>T c.(958-960)Ggg>Tgg p.G320W CYP27C1_uc021vnn.1_Missense_Mutation_p.G320W NM_001001665 NP_001001665 Q4G0S4 C27C1_HUMAN Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA. 320 membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen p.G320R(2) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 16 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.071) ATTCTCCGCCCTATGCAGCTG 0.557000 19 12 9.16793e-09 1.65052e-07 0.000566183 1 0 RNF213 57674 broad.mit.edu 37 17 78321960 78321960 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:78321960G>T uc002jyh.2 + 29 10115 c.9972G>T c.(9970-9972)ctG>ctT p.L3324L RNF213_uc021uen.1_Silent_p.L3275L NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN SubName: Full=Uncharacterized protein; 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CCTACTCGCTGGGCGGGTTCG 0.602000 49 17 1.56452e-12 3.52929e-11 0.000958276 1 0 IGDCC4 57722 broad.mit.edu 37 15 65693168 65693168 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:65693168G>T uc002aou.1 - 4 1027 c.817C>A c.(817-819)Cct>Act p.P273T NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA. 273 Ig-like C2-type 3. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GACACAAAAGGGGTGGGGTCA 0.617000 OREG0023196 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 15 2.32078e-09 4.35982e-08 0.000308642 1 0 LRIT2 340745 broad.mit.edu 37 10 85982090 85982090 + Silent SNP G T T rs74145771 by1000genomes TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr10:85982090G>T uc010qmc.2 - 3 1277 c.1269C>A c.(1267-1269)ccC>ccA p.P423P LRIT2_uc001kcy.3_Silent_p.P413P NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA. 413 Fibronectin type-III. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 TATTGATTCCGGGGCCAATGT 0.552000 38 37 4.62619e-21 1.54674e-19 0.000814825 1 0 ANKRD17 26057 broad.mit.edu 37 4 73959836 73959836 + Missense_Mutation SNP T C C TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:73959836T>C uc003hgp.3 - 27 5404 c.5287A>G c.(5287-5289)Aaa>Gaa p.K1763E ANKRD17_uc003hgo.3_Missense_Mutation_p.K1650E|ANKRD17_uc003hgq.3_Missense_Mutation_p.K1512E|ANKRD17_uc003hgr.3_Missense_Mutation_p.K1762E NM_032217 NP_115593 O75179 ANR17_HUMAN Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA. 1763 KH. interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCTTTCTGTTTATCAATATCT 0.358000 33 44 0 0 0.000589545 0 0 HDAC10 83933 broad.mit.edu 37 22 50686183 50686183 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:50686183C>T uc003bkg.3 - 13 1733 c.1360G>A c.(1360-1362)Gag>Aag p.E454K TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc010hav.3_Missense_Mutation_p.E434K|HDAC10_uc003bkh.3_Missense_Mutation_p.E247K|HDAC10_uc003bkj.3_Intron|HDAC10_uc003bkk.1_Silent_p.G125G NM_032019 NP_114408 Q969S8 HDA10_HUMAN Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA. 454 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGGGCCTCCTCCCGGGCCAGG 0.632000 24 6 0 0 0.000274275 0 0 CLDN8 9073 broad.mit.edu 37 21 31587640 31587640 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr21:31587640G>T uc002ynu.2 - 0 830 c.604C>A c.(604-606)Cat>Aat p.H202N NM_199328 NP_955360 P56748 CLD8_HUMAN Homo sapiens claudin 8 (CLDN8), mRNA. 202 calcium-independent cell-cell adhesion endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|endometrium(2)|large_intestine(6)|lung(6) 15 GTTGTGCGATGGGAAGGTATC 0.443000 67 30 3.03874e-20 9.80954e-19 0.00058488 1 0 TAB1 10454 broad.mit.edu 37 22 39811105 39811105 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:39811105G>A uc003axt.3 + 1 177 c.128G>A c.(127-129)gGc>gAc p.G43D TAB1_uc003axr.3_Missense_Mutation_p.G119D|TAB1_uc011aok.2_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.G43D NM_006116 NP_006107 Q15750 TAB1_HUMAN Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA. 43 I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 GATGGCAAGGGCACTGAGAGC 0.612000 116 50 0 0 0.000781405 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858428 9858428 + Silent SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:9858428G>A uc010uym.2 - 13 3283 c.2973C>T c.(2971-2973)tcC>tcT p.S991S GRIN2A_uc002czo.4_Silent_p.S991S|GRIN2A_uc010uyn.2_Silent_p.S834S|GRIN2A_uc002czr.4_Silent_p.S991S NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 991 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGTTAGGGTTGGACTCATTGA 0.493000 47 11 0 0 0.000151284 0 0 NRAS 4893 broad.mit.edu 37 1 115256528 115256528 + Missense_Mutation SNP T G G rs121913255 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:115256528T>G uc009wgu.3 - 2 437 c.183A>C c.(181-183)caA>caC p.Q61H NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(898)|p.Q61K(635)|p.Q61H(223)|p.Q61L(198)|p.Q61P(23)|p.Q61E(9)|p.Q61Q(6)|p.G60E(6)|p.Q61?(5)|p.Q61_E62>HK(2)|p.G60R(1)|p.G60>?(1)|p.Q61*(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TGTACTCTTCTTGTCCAGCTG 0.463000 Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 13 87 0 0 0.000781405 0 0 ABCC8 6833 broad.mit.edu 37 11 17419937 17419937 + Silent SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:17419937G>A uc001mnc.3 - 29 3828 c.3702C>T c.(3700-3702)aaC>aaT p.N1234N NM_000352 NP_000343 Q09428 ABCC8_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA. 1234 ABC transmembrane type-1 2. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GGGAAGCAATGTTGTTGGAGT 0.547000 154 88 0 0 0.000781405 0 0 RELT 84957 broad.mit.edu 37 11 73101837 73101837 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:73101837C>A uc001otv.3 + 3 323 c.158C>A c.(157-159)cCa>cAa p.P53Q RELT_uc001otw.3_Missense_Mutation_p.P53Q|RELT_uc009yto.1_5'UTR|RELT_uc001otx.3_5'Flank NM_152222 NP_689408 Q969Z4 TR19L_HUMAN Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA. 53 cytoplasm|integral to membrane|plasma membrane binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 12 CCCTGCCCCCCAGGCACCTTC 0.667000 27 27 1.88708e-17 5.38058e-16 0.000227799 1 0 FAHD1 81889 broad.mit.edu 37 16 1877845 1877845 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:1877845C>A uc002cnc.1 + 0 621 c.615C>A c.(613-615)atC>atA p.I205I HAGH_uc002cmz.3_5'Flank|HAGH_uc002cna.3_5'Flank|HAGH_uc010uvp.2_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.3_Silent_p.I205I|FAHD1_uc010brz.3_Silent_p.I205I NM_031208 NP_112485 Q6P587 FAHD1_HUMAN Homo sapiens fumarylacetoacetate hydrolase domain containing 1 (FAHD1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 205 mitochondrion hydrolase activity|metal ion binding|protein binding NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1) 6 ACGATGAGATCGAGGCTGGCA 0.423000 39 21 4.72057e-08 7.98658e-07 0.000586117 1 0 CD86 942 broad.mit.edu 37 3 121822564 121822564 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:121822564G>T uc003eet.3 + 2 398 c.270G>T c.(268-270)tcG>tcT p.S90S CD86_uc011bjo.2_Silent_p.S8S|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Silent_p.S84S|CD86_uc021xcz.1_Silent_p.S84S NM_175862 NP_008820 P42081 CD86_HUMAN Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA. 90 Ig-like V-type. T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) GTTTTGATTCGGACAGTTGGA 0.438000 78 37 1.69901e-12 3.81734e-11 0.000191422 1 0 APOB 338 broad.mit.edu 37 2 21228575 21228576 + Missense_Mutation DNP GG TT TT TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:21228575_21228576GG>TT uc002red.3 - 25 11292_11293 c.11164_11165CC>AA c.(11164-11166)cct>AAt p.P3722N NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3722 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AACTTTTACAGGGATGGAGAAT 0.406000 471 13 0 0 6.4e-05 0 0 KCNT2 343450 broad.mit.edu 37 1 196295854 196295854 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:196295854C>A uc001gtd.1 - 18 2329 c.2269G>T c.(2269-2271)Gat>Tat p.D757Y KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Missense_Mutation_p.D707Y|KCNT2_uc001gtf.1_Missense_Mutation_p.D757Y|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.D757Y|KCNT2_uc001gth.1_Missense_Mutation_p.D278Y NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 757 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TACGGGTTATCCAATAGCAGT 0.303000 30 43 4.18559e-23 1.50708e-21 0.000781405 1 0 FAF1 11124 broad.mit.edu 37 1 51323654 51323654 + Nonsense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:51323654C>A uc001cse.1 - 1 514 c.61G>T c.(61-63)Gaa>Taa p.E21* FAF1_uc009vyw.1_Non-coding_Transcript NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA. 21 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity p.0?(5) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) TCAATGTTTTCAATGCCAGTA 0.279000 32 19 7.45023e-12 1.62201e-10 0.000175454 1 0 MECOM 2122 broad.mit.edu 37 3 168834350 168834350 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:168834350C>T uc011bpj.1 - 7 1713 c.1310G>A c.(1309-1311)gGa>gAa p.G437E MECOM_uc010hwk.1_Missense_Mutation_p.G272E|MECOM_uc003ffj.3_Missense_Mutation_p.G314E|MECOM_uc003ffi.3_Missense_Mutation_p.G249E|MECOM_uc011bpi.1_Missense_Mutation_p.G250E|MECOM_uc003ffn.3_Missense_Mutation_p.G249E|MECOM_uc003ffk.2_Missense_Mutation_p.G249E|MECOM_uc003ffl.2_Missense_Mutation_p.G409E|MECOM_uc011bpk.1_Missense_Mutation_p.G249E|MECOM_uc010hwn.2_Missense_Mutation_p.G437E NM_004991 NP_004982 Q13465 MDS1_HUMAN Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA. 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 GCCAAAAAATCCACCTGCCGC 0.448000 72 24 0 0 0.000720815 0 0 DNAH17 8632 broad.mit.edu 37 17 76535915 76535915 + Silent SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:76535915C>T uc010dhp.2 - 17 2705 c.2580G>A c.(2578-2580)aaG>aaA p.K860K NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGACATAATCCTTCCAGGGCA 0.453000 53 24 0 0 0.000586117 0 0 TERT 7015 broad.mit.edu 37 5 1278788 1278788 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:1278788G>T uc003jcb.1 - 5 2312 c.2254C>A c.(2254-2256)Cat>Aat p.H752N TERT_uc003jbz.1_Silent_p.P8P|TERT_uc003jcc.1_Missense_Mutation_p.H752N|TERT_uc003jca.1_Missense_Mutation_p.H740N|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.H204N NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 752 Reverse transcriptase. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ACGTGCCCATGGGCGGCCTTC 0.572000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 362 72 1.69816e-31 6.96244e-30 0.000781405 1 0 KRTAP4-8 728224 broad.mit.edu 37 17 39254032 39254032 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:39254032G>T uc010wfo.2 - 0 344 c.305C>A c.(304-306)cCc>cAc p.P102H NM_031960 NP_114166 Q9BYQ9 KRA48_HUMAN Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA. 102 25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR]. keratin filament endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1) 11 acagcagctggggcggcagca 0.662000 19 7 1.76689e-08 3.10145e-07 0.000442599 1 0 MMP28 79148 broad.mit.edu 37 17 34097293 34097293 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:34097293C>T uc002hjy.1 - 5 899 c.640G>A c.(640-642)Gaa>Aaa p.E214K MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript NM_024302 NP_077278 Q9H239 MMP28_HUMAN Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA. 215 proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5) 16 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) AAGTGCGCTTCGCCGCGGCGG 0.731000 5 5 0 0 0.000602214 0 0 KCNQ1 3784 broad.mit.edu 37 11 2604676 2604676 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:2604676C>A uc001lwn.3 + 6 1041 c.933C>A c.(931-933)acC>acA p.T311T KCNQ1_uc009ydp.1_Silent_p.T95T|KCNQ1_uc001lwo.3_Silent_p.T184T NM_000218 NP_000209 P51787 KCNQ1_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA. 311 T -> I (in LQT1). blood circulation|membrane depolarization|muscle contraction|sensory perception of sound delayed rectifier potassium channel activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2) 21 all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159) BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131) Bepridil(DB01244)|Indapamide(DB00808) TCACAGTCACCACCATCGGCT 0.617000 111 74 5.82419e-33 2.42329e-31 0.000781405 1 0 TMC7 79905 broad.mit.edu 37 16 19020565 19020565 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:19020565C>A uc002dfp.2 + 1 269 c.139C>A c.(139-141)Cgg>Agg p.R47R TMC7_uc010vao.1_Silent_p.R47R|TMC7_uc002dfq.3_Silent_p.R47R|TMC7_uc010vap.2_5'UTR NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 47 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 GCCAAGCTACCGGTCCATTGC 0.488000 33 30 7.26314e-15 1.85441e-13 0.000184323 1 0 FURIN 5045 broad.mit.edu 37 15 91419735 91419735 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:91419735G>T uc002bpu.1 + 3 536 c.320G>T c.(319-321)cGg>cTg p.R107L NM_002569 NP_002560 P09958 FURIN_HUMAN Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA. 107 Cleavage, first; by autolysis. Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CGGACTAAACGGGACGTGTAC 0.617000 109 48 7.47603e-22 2.52969e-20 0.000781405 1 0 PRSS3P2 154754 broad.mit.edu 37 7 142480004 142480004 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:142480004C>A uc011ksq.2 + 1 219 c.136C>A c.(136-138)Cac>Aac p.H46N TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. TTCTGGCTCCCACTTCTGCGG 0.557000 103 20 1.55795e-14 3.88933e-13 0.000229342 1 0 FAM129A 116496 broad.mit.edu 37 1 184863270 184863270 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:184863270C>A uc001gra.3 - 2 451 c.257G>T c.(256-258)tGg>tTg p.W86L FAM129A_uc009wyh.1_Missense_Mutation_p.W86L|FAM129A_uc009wyi.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 86 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 TCTCTCCTTCCACTTCTTTAT 0.353000 107 31 1.61788e-16 4.39016e-15 0.000409698 1 0 NXF3 56000 broad.mit.edu 37 X 102337259 102337259 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chrX:102337259C>A uc004eju.3 - 8 885 c.814G>T c.(814-816)Ggg>Tgg p.G272W NXF3_uc010noi.1_Missense_Mutation_p.G122W|NXF3_uc011mrw.1_Missense_Mutation_p.G272W|NXF3_uc011mrx.1_Missense_Mutation_p.G183W NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA. 272 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 GGCTCTATCCCTTTCCACTTG 0.547000 13 47 2.0833e-19 6.46513e-18 0.000781405 1 0 MAGT1 84061 broad.mit.edu 37 X 77130990 77130991 + Missense_Mutation DNP CG AT AT TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chrX:77130990_77130991CG>AT uc004fof.3 - 1 364_365 c.302_303CG>AT c.(301-303)ccg>cAT p.P101H MAGT1_uc004fog.4_Non-coding_Transcript|MAGT1_uc004ect.4_Missense_Mutation_p.P101H NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN Homo sapiens magnesium transporter 1 (MAGT1), mRNA. 69 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 AGTAATTTCTCGGTGGGGCTTT 0.411000 100 6 0 0 6.4e-05 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140751047 140751047 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:140751047G>T uc003ljw.2 + 0 1086 c.1086G>T c.(1084-1086)ctG>ctT p.L362L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.L362L|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 365 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGCTGAGCTGGGGACTGCCG 0.403000 15 10 0.000673444 0.00844361 0.000673444 1 0 VWA1 64856 broad.mit.edu 37 1 1374540 1374540 + Silent SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:1374540C>T uc001afs.3 + 2 937 c.711C>T c.(709-711)acC>acT p.T237T VWA1_uc001afr.3_3'UTR NM_022834 NP_073745 Q6PCB0 VWA1_HUMAN Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA. 237 Fibronectin type-III 1. basement membrane NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CCCTGCTGACCGCAGACTCGG 0.701000 13 9 0 0 0.000673444 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41622690 41622690 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:41622690G>T uc003azo.3 + 12 1583 c.1529G>T c.(1528-1530)tGg>tTg p.W510L L3MBTL2_uc010gyi.1_Missense_Mutation_p.W419L|L3MBTL2_uc003azn.3_Non-coding_Transcript NM_031488 NP_113676 Q969R5 LMBL2_HUMAN Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA. 510 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 ACTTTCAACTGGGAGAACTAC 0.552000 54 19 5.26018e-13 1.2159e-11 0.000229342 1 0 HOXB6 3216 broad.mit.edu 37 17 46673903 46673903 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:46673903G>T uc002ins.1 - 3 872 c.547C>A c.(547-549)Ctg>Atg p.L183M HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB5_uc002inr.3_5'Flank|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB6_uc010dbh.1_Missense_Mutation_p.L183M|HOXB6_uc002int.1_3'UTR|HOXB-AS3_uc021tzk.1_Intron NM_018952 NP_061825 P17509 HXB6_HUMAN Homo sapiens homeobox B6 (HOXB6), mRNA. 183 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(4) 7 GTCAGGCACAGGGCGTGCGCG 0.582000 108 43 9.52127e-25 3.54179e-23 0.000781405 1 0 FBL 2091 broad.mit.edu 37 19 40329698 40329698 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:40329698G>T uc002omn.3 - 4 640 c.526C>A c.(526-528)Cat>Aat p.H176N FBL_uc002omm.1_Missense_Mutation_p.H90N|FBL_uc002omo.2_Missense_Mutation_p.H175N|FBL_uc010egr.3_Missense_Mutation_p.H176N NM_001436 NP_001427 P22087 FBRL_HUMAN Homo sapiens fibrillarin (FBL), mRNA. 176 rRNA processing|tRNA processing Cajal body|box C/D snoRNP complex RNA binding|methyltransferase activity|protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) TCAGAGACATGGGAGACCGTG 0.577000 50 19 1.36565e-18 4.08023e-17 0.000375601 1 0 GH2 2689 broad.mit.edu 37 17 61958123 61958123 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:61958123C>A uc002jcl.1 - 3 527 c.465G>T c.(463-465)gtG>gtT p.V155V GH2_uc002jcn.1_Intron|GH2_uc002jco.1_Intron|GH2_uc002jcm.1_Intron NM_022557 NP_072051 P01242 SOM2_HUMAN Homo sapiens growth hormone 2 (GH2), transcript variant 2, mRNA. 154 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 TCCCTGGTGCCACCCTCACCC 0.597000 69 28 1.74197e-06 2.65167e-05 0.000147802 1 0 SPATS2 65244 broad.mit.edu 37 12 49890753 49890753 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:49890753G>T uc001rud.2 + 7 1653 c.664G>T c.(664-666)Ggg>Tgg p.G222W SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.G222W|SPATS2_uc001ruf.2_Missense_Mutation_p.G222W NM_023071 NP_075559 Q86XZ4 SPAS2_HUMAN Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA. 222 cytoplasm breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4) 21 TTCAAATATGGGGATGGAAGA 0.433000 38 19 1.28384e-07 2.10243e-06 0.000229342 1 0 ENTHD1 150350 broad.mit.edu 37 22 40161412 40161413 + Missense_Mutation DNP GG TT TT TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:40161412_40161413GG>TT uc003ayg.3 - 5 1285_1286 c.1034_1035CC>AA c.(1033-1035)ccc>cAA p.P345Q NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA. 345 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CCCTTAAGTCGGGGCTGATAAA 0.411000 137 6 0 0 6.4e-05 0 0 NDC80 10403 broad.mit.edu 37 18 2577813 2577813 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr18:2577813C>A uc002kli.3 + 3 430 c.248C>A c.(247-249)cCg>cAg p.P83Q NM_006101 NP_006092 O14777 NDC80_HUMAN Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA. 83 Interaction with the N-terminus of CDCA1.|Nuclear localization. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling Ndc80 complex|condensed nuclear chromosome outer kinetochore|cytosol protein binding p.P83P(1) NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2) 22 ATCAAGGACCCGAGACCACTT 0.363000 33 35 2.20474e-14 5.45551e-13 0.000692331 1 0 SRCIN1 80725 broad.mit.edu 37 17 36709048 36709048 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:36709048G>T uc002hqd.3 - 11 2470 c.2245C>A c.(2245-2247)Cac>Aac p.H749N SRCIN1_uc002hqf.1_Missense_Mutation_p.H621N|SRCIN1_uc002hqe.2_Missense_Mutation_p.H603N|SRCIN1_uc002hqg.3_Missense_Mutation_p.H55N NM_025248 NP_079524 Q9C0H9 SRCN1_HUMAN Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA. 621 exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane protein kinase binding endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 19 CGGTGGTTGTGGGACACGTCT 0.632000 56 9 2.80697e-09 5.20356e-08 6.40141e-05 1 0 MYH11 4629 broad.mit.edu 37 16 15841937 15841937 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:15841937G>T uc002ddx.3 - 17 2275 c.2168C>A c.(2167-2169)cCc>cAc p.P723H MYH11_uc002ddv.3_Missense_Mutation_p.P723H|MYH11_uc002ddw.3_Missense_Mutation_p.P716H|MYH11_uc002ddy.3_Missense_Mutation_p.P716H|MYH11_uc010bvg.3_Missense_Mutation_p.P548H NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 716 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GATCCGGTTGGGGAAGCCCTG 0.632000 T CBFB AML 26 9 3.86212e-05 0.000530404 0.000673444 1 0 OR52J3 119679 broad.mit.edu 37 11 5067867 5067867 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:5067867C>A uc010qyv.2 + 0 112 c.112C>A c.(112-114)Ctt>Att p.L38I NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA. 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCTGTTTACCTTGTGGCTTT 0.488000 37 10 2.17888e-05 0.000304447 0.000442599 1 0 PLCE1 51196 broad.mit.edu 37 10 95892021 95892021 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr10:95892021C>A uc001kjk.3 + 2 1931 c.1297C>A c.(1297-1299)Cat>Aat p.H433N PLCE1_uc010qnx.2_Missense_Mutation_p.H433N|PLCE1_uc001kjm.3_Missense_Mutation_p.H125N NM_016341 NP_057425 Q9P212 PLCE1_HUMAN Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA. 433 Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction Golgi membrane|cytosol|membrane fraction|plasma membrane Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) CGAGACAGCCCATGGAAGGAT 0.468000 43 30 8.58068e-18 2.48442e-16 0.000184323 1 0 LATS2 26524 broad.mit.edu 37 13 21549192 21549192 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr13:21549192G>T uc009zzs.3 - 7 3449 c.3084C>A c.(3082-3084)ccC>ccA p.P1028P LATS2_uc001unr.4_Silent_p.P1028P NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA. 1028 AGC-kinase C-terminal. G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GCTTGTTATTGGGCGAGGTGA 0.527000 59 40 6.5261e-18 1.90923e-16 0.000374591 1 0 VPRBP 9730 broad.mit.edu 37 3 51475839 51475839 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:51475839G>T uc003dbe.2 - 7 773 c.588C>A c.(586-588)ccC>ccA p.P196P VPRBP_uc021wys.1_Silent_p.P195P|VPRBP_uc003dbg.2_Silent_p.P196P NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA. 196 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TCCGTGGACTGGGACGCTTGT 0.502000 112 101 2.18974e-44 9.91919e-43 0.000781405 1 0 C1orf112 55732 broad.mit.edu 37 1 169790900 169790900 + Splice_Site SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:169790900G>T uc001ggq.3 + 9 1483 c.783_splice c.e9+1 p.K261_splice C1orf112_uc001ggj.3_Splice_Site|C1orf112_uc001ggp.3_Splice_Site_p.K261_splice|C1orf112_uc009wvt.3_Splice_Site|C1orf112_uc010plu.1_Splice_Site_p.K232_splice|C1orf112_uc009wvu.1_Intron|C1orf112_uc001ggr.3_Splice_Site_p.K126_splice|C1orf112_uc010plv.2_Splice_Site_p.K203_splice NM_018186 NP_060656 Q9NSG2 CA112_HUMAN Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA. 261 breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1) 34 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) actacgctaaggtaaggcttt 0.333000 60 21 2.4624e-09 4.59511e-08 0.000132079 1 0 TEX2 55852 broad.mit.edu 37 17 62291306 62291306 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:62291306G>A uc002jed.3 - 1 423 c.272C>T c.(271-273)tCg>tTg p.S91L TEX2_uc002jec.3_Missense_Mutation_p.S91L|TEX2_uc002jee.3_Missense_Mutation_p.S91L NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN Homo sapiens testis expressed 2 (TEX2), mRNA. 91 signal transduction|sphingolipid metabolic process integral to membrane p.S91L(2) breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) CAGGACAGGCGAGGCAGCAGG 0.592000 90 126 0 0 0.000781405 0 0 LRRC52 440699 broad.mit.edu 37 1 165513559 165513559 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:165513559C>A uc001gde.2 + 0 82 c.26C>A c.(25-27)cCt>cAt p.P9H LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA. 9 integral to membrane NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1) 18 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) GGCCCTGGCCCTGGGTGGTTA 0.542000 111 23 4.72057e-08 7.98658e-07 0.000586117 1 0 SLC39A14 23516 broad.mit.edu 37 8 22265865 22265865 + Nonsense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr8:22265865G>T uc003xbq.4 + 2 488 c.313G>T c.(313-315)Gag>Tag p.E105* SLC39A14_uc011kzg.2_Nonsense_Mutation_p.E105*|SLC39A14_uc003xbp.4_Nonsense_Mutation_p.E105*|SLC39A14_uc011kzh.2_Nonsense_Mutation_p.E105* NM_001128431 NP_001128625 Q15043 S39AE_HUMAN Homo sapiens solute carrier family 39 (zinc transporter), member 14 (SLC39A14), transcript variant 1, mRNA. 105 Golgi apparatus|endoplasmic reticulum|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1) 12 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) CAATTTCAGCGAGCAGTCGCG 0.592000 41 24 1.42536e-11 3.02122e-10 0.000720815 1 0 OR4C16 219428 broad.mit.edu 37 11 55340324 55340324 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:55340324C>A uc010rih.2 + 0 721 c.721C>A c.(721-723)Cac>Aac p.H241N NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA. 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) ATGTGTCTCCCACATCATTGT 0.393000 24 24 2.98393e-07 4.81631e-06 0.000375601 1 0 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:29628245G>A uc010ztl.1 + 2 189 c.157G>A c.(157-159)Gcc>Acc p.A53T FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 99 5 0 0 0.000602214 0 0 ARMCX1 51309 broad.mit.edu 37 X 100808228 100808228 + Silent SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chrX:100808228G>A uc022cak.1 + 0 315 c.315G>A c.(313-315)gaG>gaA p.E105E ARMCX1_uc004ehv.3_Silent_p.E105E|ARMCX1_uc004ehw.3_Silent_p.E105E NM_016608 NP_057692 Q9P291 ARMX1_HUMAN Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA. 105 integral to membrane binding p.E105Q(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 GTGGCCTAGAGGCCAAGGCCA 0.567000 9 17 0 0 0.000958276 0 0 EXOSC7 23016 broad.mit.edu 37 3 45052801 45052801 + Silent SNP C A A rs140279197 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:45052801C>A uc003coi.2 + 7 875 c.846C>A c.(844-846)ccC>ccA p.P282P EXOSC7_uc003coh.1_Silent_p.P217P|EXOSC7_uc010his.1_Silent_p.P201P NM_015004 NP_055819 Q15024 EXOS7_HUMAN Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA. 282 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|RNA binding|protein binding endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) GCCTGGGGCCCAAGAGACAGA 0.473000 18 20 1.66031e-10 3.36676e-09 0.000586117 1 0 IQGAP3 128239 broad.mit.edu 37 1 156513984 156513984 + Missense_Mutation SNP C A A rs147371313 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:156513984C>A uc001fpf.3 - 20 2495 c.2420G>T c.(2419-2421)cGg>cTg p.R807L NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA. 807 IQ 3. small GTPase mediated signal transduction intracellular Ras GTPase activator activity|calmodulin binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GTATTGCCTCCGAGCTGCCCA 0.577000 176 6 0.000157383 0.00205587 0.000157383 1 0 DNAH5 1767 broad.mit.edu 37 5 13753355 13753355 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:13753355C>T uc003jfd.2 - 62 10901 c.10859G>A c.(10858-10860)cGa>cAa p.R3620Q DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3620 AAA 5 (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) GAGTTCATTTCGGCTTTCTTT 0.333000 Kartagener syndrome 159 18 0 0 0.00074312 0 0 SLC2A1 6513 broad.mit.edu 37 1 43396303 43396303 + Silent SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:43396303G>A uc001cik.2 - 3 1035 c.510C>T c.(508-510)atC>atT p.I170I NM_006516 NP_006507 P11166 GTR1_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA. 170 carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process integral to membrane|melanosome|membrane fraction|midbody D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2) 13 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0122) Etomidate(DB00292) TTACCTGGGCGATGAGGATGC 0.642000 5 13 0 0 0.000219431 0 0 CFH 3075 broad.mit.edu 37 1 196709892 196709892 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:196709892G>A uc001gtj.4 + 17 3166 c.2926G>A c.(2926-2928)Gaa>Aaa p.E976K CFH_uc021pgt.1_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 976 Sushi 16. complement activation, alternative pathway extracellular space p.G975R(1)|p.E976E(1) NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 ATGCTTAGGAGAAAAATGGTC 0.348000 128 34 0 0 0.000953801 0 0 DNM3 26052 broad.mit.edu 37 1 172357867 172357867 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:172357867C>A uc001gie.3 + 19 2616 c.2440C>A c.(2440-2442)Cct>Act p.P814T DNM3_uc001gif.3_Missense_Mutation_p.P810T|DNM3_uc001gih.1_Missense_Mutation_p.P170T NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA. 820 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CCCATTACCTCCTTTCCCCAG 0.642000 20 8 0.000157383 0.00205587 0.000157383 1 0 CYP4F12 66002 broad.mit.edu 37 19 15784502 15784502 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:15784502C>A uc002nbl.3 + 1 282 c.163C>A c.(163-165)Cca>Aca p.P55T CYP4F12_uc010xoo.2_Missense_Mutation_p.P55T|CYP4F12_uc010xop.2_Missense_Mutation_p.P55T NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. 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) CCCACAGCCCCCAAAACGGAA 0.587000 57 12 4.36969e-10 8.55211e-09 0.000151284 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19647594 19647594 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr21:19647594G>T uc002ykw.3 - 23 2855 c.2824C>A c.(2824-2826)Caa>Aaa p.Q942K NM_002772 NP_002763 P98073 ENTK_HUMAN Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA. 942 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 ATCTGCTGTTGGCATCTCTCA 0.398000 78 46 7.05121e-23 2.49099e-21 0.000509022 1 0 PCDH19 57526 broad.mit.edu 37 X 99661580 99661580 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chrX:99661580C>A uc010nmz.3 - 0 3692 c.2016G>T c.(2014-2016)atG>atT p.M672I PCDH19_uc004efw.4_Missense_Mutation_p.M672I|PCDH19_uc004efx.4_Missense_Mutation_p.M672I NM_001184880 NP_001171809 Q8TAB3 PCD19_HUMAN Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA. 672 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TCACAGAGCCCATTGACTCTT 0.512000 4 16 1.67942e-08 3.00423e-07 0.00074312 1 0 CCDC78 124093 broad.mit.edu 37 16 773117 773117 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:773117C>A uc002cjg.3 - 11 1284 c.1178G>T c.(1177-1179)cGg>cTg p.R393L CCDC78_uc002cjh.3_Missense_Mutation_p.R152L|CCDC78_uc002cji.3_3'UTR|CCDC78_uc002cjj.3_3'UTR NM_001031737 NP_001026907 A2IDD5 CCD78_HUMAN Homo sapiens coiled-coil domain containing 78 (CCDC78), mRNA. 393 p.R393Q(2)|p.R393R(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3) 9 Hepatocellular(780;0.0218) GGAGAAGTCCCGGAGCTTCTG 0.642000 24 4 0.000602214 0.00760143 0.000602214 1 0 TTN 7273 broad.mit.edu 37 2 179585273 179585273 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:179585273C>T uc021vsy.1 - 76 19709 c.19484G>A c.(19483-19485)cGa>cAa p.R6495Q TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R3156Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7422 Ig-like 46. 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) AACCTGCTTTCGATCTTTAAC 0.388000 19 16 0 0 0.000308642 0 0 SHC3 53358 broad.mit.edu 37 9 91628367 91628367 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr9:91628367G>T uc004aqf.2 - 11 2087 c.1780C>A c.(1780-1782)Cag>Aag p.Q594K NM_016848 NP_058544 Q92529 SHC3_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA. 594 KQ -> NE (in Ref. 2). Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway cytosol protein binding|signal transducer activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3) 28 CCAGGTCACTGCTTCCTCTCC 0.602000 28 21 5.26018e-13 1.2159e-11 0.000229342 1 0 RYR3 6263 broad.mit.edu 37 15 34078059 34078059 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:34078059C>A uc001zhi.3 + 65 9535 c.9465C>A c.(9463-9465)ccC>ccA p.P3155P RYR3_uc010bar.3_Silent_p.P3155P NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 3155 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ACCTGCCCCCCAGCACAGGGC 0.557000 73 43 1.41504e-22 4.87623e-21 0.000589545 1 0 KRTAP12-2 353323 broad.mit.edu 37 21 46086528 46086528 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr21:46086528G>T uc002zfu.3 - 0 317 c.276C>A c.(274-276)ccC>ccA p.P92P TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_181684 NP_859012 P59991 KR122_HUMAN Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA. 92 23 X 5 AA approximate repeats. keratin filament central_nervous_system(1)|endometrium(1)|lung(3) 5 CACACACAATGGGCCTGCAGC 0.627000 34 19 1.01871e-10 2.10372e-09 0.000132079 1 0 TSPAN12 23554 broad.mit.edu 37 7 120478967 120478967 + Splice_Site SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:120478967C>A uc003vjk.3 - 4 524 c.150_splice c.e4-1 p.R50_splice NM_012338 NP_036470 O95859 TSN12_HUMAN Homo sapiens tetraspanin 12 (TSPAN12), mRNA. 50 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) TTCCTCTACCCTGAAAGAAGA 0.348000 64 36 1.02151e-06 1.57201e-05 0.000491102 1 0 FLI1 2313 broad.mit.edu 37 11 128651878 128651878 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:128651878C>A uc010sbu.2 + 4 958 c.615C>A c.(613-615)acC>acA p.T205T FLI1_uc010sbt.2_Silent_p.T12T|FLI1_uc010sbv.2_Silent_p.T172T|FLI1_uc009zci.3_Silent_p.T139T NM_002017 NP_001161153 Q01543 FLI1_HUMAN Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA. 205 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2569) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2) 31 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) ATAATACAACCTCCCACACCG 0.423000 T EWSR1 Ewing sarcoma 75 40 1.33152e-38 5.79779e-37 0.000781405 1 0 FBXO10 26267 broad.mit.edu 37 9 37521655 37521655 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr9:37521655C>A uc004aac.3 - 7 2239 c.2159G>T c.(2158-2160)tGg>tTg p.W720L FBXO10_uc004aab.3_Missense_Mutation_p.W704L|FBXO10_uc004aad.3_Missense_Mutation_p.W254L NM_012166 NP_036298 Q9UK96 FBX10_HUMAN Homo sapiens F-box protein 10 (FBXO10), mRNA. 704 ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) CTCTGTCTCCCAGAGGATGGC 0.542000 62 8 0.000274275 0.00353349 0.000274275 1 0 NWD1 284434 broad.mit.edu 37 19 16899890 16899890 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:16899890G>T uc002neu.4 + 12 3251 c.2829G>T c.(2827-2829)caG>caT p.Q943H NWD1_uc002net.4_Missense_Mutation_p.Q808H|NWD1_uc002nev.4_Missense_Mutation_p.Q737H|NWD1_uc021uqg.1_Missense_Mutation_p.Q808H NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 943 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TCTCTGGCCAGGAGAAATTTA 0.473000 29 27 6.32553e-13 1.45022e-11 0.000720815 1 0 SLIT2 9353 broad.mit.edu 37 4 20598100 20598100 + Missense_Mutation SNP T C C TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:20598100T>C uc003gpr.1 + 31 3587 c.3383T>C c.(3382-3384)tTt>tCt p.F1128S SLIT2_uc003gps.1_Missense_Mutation_p.F1120S NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1128 EGF-like 6. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGTGATAATTTTGATTGTCAG 0.403000 31 47 0 0 0.000781405 0 0 ATP8B2 57198 broad.mit.edu 37 1 154300326 154300326 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:154300326C>A uc001fex.3 + 0 51 c.51C>A c.(49-51)tcC>tcA p.S17S ATP8B2_uc001few.3_Intron|ATP8B2_uc001fey.1_5'Flank NM_020452 NP_065185 P98198 AT8B2_HUMAN Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA. 0 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCCTCTTCTCCTTTCCCTACA 0.547000 173 34 6.53348e-20 2.09706e-18 0.000692331 1 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + Silent SNP G A A rs150520281 by1000genomes TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:21817457G>A uc010vbl.1 - 6 603 c.106C>T c.(106-108)Ctg>Ttg p.L36L LOC23117_uc021tel.1_Intron Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA. CTTACATCCAGCTTGAGTAGT 0.259000 26 4 0 0 0.00024832 0 0 FCHSD2 9873 broad.mit.edu 37 11 72794770 72794770 + Missense_Mutation SNP C G G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:72794770C>G uc009ytl.3 - 2 356 c.135G>C c.(133-135)aaG>aaC p.K45N FCHSD2_uc010rrg.2_5'UTR|FCHSD2_uc001oth.4_5'UTR|FCHSD2_uc001oti.2_5'UTR NM_014824 NP_055639 O94868 FCSD2_HUMAN Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA. 45 FCH. protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) TAGCAGCCTTCTTCTGACTGA 0.348000 165 114 0 0 0.000781405 0 0 EPHB2 2048 broad.mit.edu 37 1 23235514 23235514 + Splice_Site SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:23235514G>T uc009vqj.1 + 13 2498 c.2353_splice c.e13-1 p.G785_splice EPHB2_uc001bge.3_Splice_Site_p.G786_splice|EPHB2_uc001bgf.3_Splice_Site_p.G785_splice|EPHB2_uc010odu.2_Splice_Site_p.G727_splice NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 785 Protein kinase. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CTGTCTCCCAGGGCGGAAAGA 0.592000 7 4 0.000602214 0.00760143 0.000602214 1 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066631 46066631 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr21:46066631C>A uc002zfr.4 + 0 301 c.256C>A c.(256-258)Cag>Aag p.Q86K TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron NM_198692 NP_941965 P60411 KR109_HUMAN Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA. 86 25 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 GTCTAGCTGCCAGCCGGCTTG 0.662000 46 25 8.24728e-16 2.20595e-14 0.000720815 1 0 TMEM198 130612 broad.mit.edu 37 2 220412545 220412545 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:220412545C>A uc002vme.3 + 3 1069 c.484C>A c.(484-486)Ctg>Atg p.L162M TMEM198_uc002vmf.3_Missense_Mutation_p.L162M NM_001005209 NP_001005209 Q66K66 TM198_HUMAN Homo sapiens transmembrane protein 198 (TMEM198), mRNA. 162 Leu-rich. integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GCTCTGTGCCCTGCTCACTCT 0.706000 19 7 0.000157383 0.00205587 0.000157383 1 0 PRSS21 10942 broad.mit.edu 37 16 2868943 2868943 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:2868943G>T uc002crt.3 + 3 629 c.523G>T c.(523-525)Ggc>Tgc p.G175C PRSS21_uc002crr.3_Missense_Mutation_p.G175C|PRSS21_uc002crs.3_Missense_Mutation_p.G173C NM_006799 NP_006790 Q9Y6M0 TEST_HUMAN Homo sapiens protease, serine, 21 (testisin) (PRSS21), transcript variant 1, mRNA. 175 Peptidase S1. proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity p.G175C(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 15 CTGGGTGACTGGCTGGGGGTA 0.557000 25 16 6.49762e-13 1.48362e-11 0.00074312 1 0 FAM20A 54757 broad.mit.edu 37 17 66538276 66538276 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:66538276G>T uc002jho.3 - 6 1247 c.959C>A c.(958-960)cCa>cAa p.P320Q FAM20A_uc010wqp.2_Missense_Mutation_p.P182Q|FAM20A_uc002jhn.3_Missense_Mutation_p.H23N NM_017565 NP_001230675 Q96MK3 FA20A_HUMAN Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA. 320 extracellular region cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1) 9 Breast(10;1.64e-13) GCACATGTATGGACACTTGGC 0.602000 35 6 3.59834e-05 0.000496606 3.59834e-05 1 0 CD163L1 283316 broad.mit.edu 37 12 7548983 7548983 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:7548983C>A uc010sge.2 - 7 1814 c.1788G>T c.(1786-1788)gtG>gtT p.V596V CD163L1_uc001qsy.3_Silent_p.V586V NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 586 SRCR 6. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TGCTGCCGCCCACCAGCCTCA 0.527000 13 5 1.23904e-05 0.000174428 0.000602214 1 0 TNIP1 10318 broad.mit.edu 37 5 150439957 150439957 + Splice_Site SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:150439957C>A uc003lti.3 - 5 599 c.358_splice c.e5-1 p.G120_splice TNIP1_uc010jhq.2_Splice_Site_p.G67_splice|TNIP1_uc010jho.2_Splice_Site|TNIP1_uc010jhp.2_Splice_Site_p.G67_splice|TNIP1_uc010jhl.3_Splice_Site|TNIP1_uc010jhn.3_Splice_Site_p.G120_splice|TNIP1_uc010jhm.3_Splice_Site_p.G120_splice|TNIP1_uc010jhr.2_Splice_Site_p.G120_splice|TNIP1_uc011dco.2_Splice_Site_p.G120_splice|TNIP1_uc003ltg.3_Splice_Site_p.G67_splice|TNIP1_uc003ltk.3_Splice_Site_p.G120_splice|TNIP1_uc003ltj.3_Splice_Site_p.G120_splice|TNIP1_uc021ygb.1_Splice_Site_p.G120_splice NM_006058 NP_006049 Q15025 TNIP1_HUMAN Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA. 120 Interacts with Nef. defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation cytoplasm|nucleus protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3) 23 Medulloblastoma(196;0.0911)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGGAGGTGCCCTGTGCAGAAA 0.577000 22 18 3.51602e-12 7.77538e-11 0.000132079 1 0 FANCD2 2177 broad.mit.edu 37 3 10128860 10128860 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:10128860C>A uc003buw.3 + 33 3456 c.3378C>A c.(3376-3378)ccC>ccA p.P1126P FANCD2_uc003bux.1_Silent_p.P1126P|FANCD2_uc003buy.1_Silent_p.P1126P|FANCD2_uc010hcw.1_Non-coding_Transcript|C3orf24_uc003buz.3_Intron NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA. 1126 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) AAAGCATTCCCAGTTTCCAGT 0.383000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 116 52 1.11015e-26 4.30049e-25 0.000781405 1 0 TOP1MT 116447 broad.mit.edu 37 8 144408405 144408405 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr8:144408405C>A uc003yxz.3 - 3 489 c.470G>T c.(469-471)aGg>aTg p.R157M TOP1MT_uc011lkd.2_Missense_Mutation_p.R59M|TOP1MT_uc011lke.2_Missense_Mutation_p.R59M|TOP1MT_uc011lkf.2_5'Flank|TOP1MT_uc010mfd.1_5'UTR NM_052963 NP_443195 Q969P6 TOP1M_HUMAN Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA. 157 DNA topological change chromosome|mitochondrial nucleoid ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 23 all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173) Irinotecan(DB00762)|Topotecan(DB01030) CTTCTCCTCCCTGCTCAGGAC 0.592000 22 21 1.87028e-06 2.83164e-05 0.000229342 1 0 FLG 2312 broad.mit.edu 37 1 152279024 152279025 + Missense_Mutation DNP GG TT TT TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:152279024_152279025GG>TT uc001ezu.1 - 2 8373_8374 c.8337_8338CC>AA c.(8335-8340)tcccaa>tcAAaa p.Q2780K NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 2780 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) TGACCGTCTTGGGATGCTGAGT 0.594000 Ichthyosis 688 19 0 0 6.4e-05 0 0 KIAA1958 158405 broad.mit.edu 37 9 115336503 115336503 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr9:115336503G>T uc011lwx.1 + 1 318 c.143G>T c.(142-144)tGg>tTg p.W48L KIAA1958_uc004bgf.1_Missense_Mutation_p.W48L NM_133465 NP_597722 Q8N8K9 K1958_HUMAN Homo sapiens KIAA1958 (KIAA1958), mRNA. 48 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 ACAGCAATGTGGGGCTGTAGT 0.507000 18 13 1.49906e-05 0.000210505 0.000219431 1 0 C17orf101 79701 broad.mit.edu 37 17 80361888 80361888 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:80361888G>T uc002ket.2 - 6 776 c.624C>A c.(622-624)ccC>ccA p.P208P C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Silent_p.P208P NM_175902 NP_787098 Q6PK18 CQ101_HUMAN Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA. 208 Fe2OG dioxygenase. integral to membrane L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 14 AGAAGAAGGTGGGCTTGGTCA 0.622000 18 12 1.61879e-10 3.29448e-09 0.00010058 1 0 HDAC10 83933 broad.mit.edu 37 22 50686181 50686181 + Silent SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:50686181C>T uc003bkg.3 - 13 1735 c.1362G>A c.(1360-1362)gaG>gaA p.E454E TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc010hav.3_Silent_p.E434E|HDAC10_uc003bkh.3_Silent_p.E247E|HDAC10_uc003bkj.3_Intron|HDAC10_uc003bkk.1_Missense_Mutation_p.R126K NM_032019 NP_114408 Q969S8 HDA10_HUMAN Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA. 454 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TGAGGGCCTCCTCCCGGGCCA 0.622000 24 6 0 0 0.000274275 0 0 C6orf15 29113 broad.mit.edu 37 6 31079834 31079834 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:31079834G>A uc003nsk.1 - 1 302 c.302C>T c.(301-303)tCg>tTg p.S101L PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank NM_014070 NP_054789 Q6UXA7 CF015_HUMAN Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA. 101 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 CAGCCCCCACGATGGAGGCCA 0.617000 44 23 0 0 0.000229342 0 0 ITGB4 3691 broad.mit.edu 37 17 73745075 73745075 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:73745075G>T uc002jpg.3 + 26 3452 c.3265G>T c.(3265-3267)Ggg>Tgg p.G1089W ITGB4_uc002jph.3_Missense_Mutation_p.G1089W|ITGB4_uc002jpi.4_Missense_Mutation_p.G1089W|ITGB4_uc002jpj.3_Missense_Mutation_p.G1089W NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1089 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCTAAGTTTGGGGCCCACCT 0.637000 33 11 4.3838e-07 6.95588e-06 0.000151284 1 0 KIAA0408 9729 broad.mit.edu 37 6 127775032 127775032 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:127775032C>A uc011ebs.2 - 1 431 c.95G>T c.(94-96)tGg>tTg p.W32L KIAA0408_uc003qbc.3_Missense_Mutation_p.W32L|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qbb.3_5'Flank NM_014702 NP_055517 Q6ZU52 K0408_HUMAN Homo sapiens KIAA0408 (KIAA0408), mRNA. 32 protein binding p.W32L(2) endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TTGACTTTCCCATTCCTTTCT 0.373000 46 11 9.70103e-10 1.88549e-08 0.000673444 1 0 ALG3 10195 broad.mit.edu 37 3 183966536 183966536 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:183966536C>T uc003fne.2 - 0 224 c.193G>A c.(193-195)Gca>Aca p.A65T ALG3_uc011brc.1_Intron|ALG3_uc011brd.1_Missense_Mutation_p.G42D|ALG3_uc011bre.1_Intron|ALG3_uc011brf.1_Intron|ECE2_uc003fnh.4_5'Flank|ECE2_uc003fni.4_5'Flank NM_005787 NP_005778 Q92685 ALG3_HUMAN Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA. 65 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CACTCACATGCCACCCTGTGA 0.662000 25 11 0 0 6.40141e-05 0 0 PEG3 5178 broad.mit.edu 37 19 57328597 57328597 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:57328597G>T uc002qnu.2 - 6 1564 c.1213C>A c.(1213-1215)Cac>Aac p.H405N PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.H376N|PEG3_uc002qnv.2_Missense_Mutation_p.H405N|PEG3_uc002qnw.2_Missense_Mutation_p.H281N|PEG3_uc002qnx.2_Missense_Mutation_p.H279N|PEG3_uc010etr.2_Missense_Mutation_p.H405N NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 405 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.H405H(1) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTTTGATCGTGAATCGAGCCC 0.488000 71 35 1.836e-18 5.45652e-17 0.000692331 1 0 CACYBP 27101 broad.mit.edu 37 1 174979205 174979205 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:174979205C>T uc001gkj.1 + 5 1102 c.677C>T c.(676-678)aCg>aTg p.T226M CACYBP_uc001gki.1_Missense_Mutation_p.T183M NM_014412 NP_001007215 Q9HB71 CYBP_HUMAN Homo sapiens calcyclin binding protein (CACYBP), transcript variant 1, mRNA. 226 Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS. T -> P (in Ref. 4; AAG23817). beta-catenin destruction complex protein homodimerization activity p.D225N(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11 AAAGGAGACACGGAATTTTGA 0.368000 60 10 0 0 6.40141e-05 0 0 NDST3 9348 broad.mit.edu 37 4 119161824 119161824 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:119161824G>T uc003ibx.3 + 10 2667 c.2264G>T c.(2263-2265)tGg>tTg p.W755L NM_004784 NP_004775 O95803 NDST3_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA. 755 Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 ATCGAGAGATGGCTTGTTTAT 0.463000 23 15 3.52763e-06 5.17355e-05 0.000566183 1 0 NCAPH 23397 broad.mit.edu 37 2 97009953 97009953 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:97009953G>T uc002svz.1 + 5 790 c.706G>T c.(706-708)Gat>Tat p.D236Y NCAPH_uc010fhu.1_Missense_Mutation_p.D212Y|NCAPH_uc010fhv.1_Missense_Mutation_p.D225Y|NCAPH_uc010yum.1_Missense_Mutation_p.D212Y|NCAPH_uc010yun.1_Missense_Mutation_p.D100Y NM_015341 NP_056156 Q15003 CND2_HUMAN Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA. 236 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) CTCCGAAGCAGATCGGAAGTG 0.468000 40 30 1.99505e-19 6.22567e-18 0.000409698 1 0 ADRB2 154 broad.mit.edu 37 5 148207496 148207496 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:148207496G>T uc003lpr.2 + 0 1341 c.1102G>T c.(1102-1104)Gtg>Ttg p.V368L SH3TC2_uc003lpp.1_Intron NM_000024 NP_000015 P07550 ADRB2_HUMAN Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA. 368 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) TGGATATCACGTGGAACAGGA 0.517000 36 11 1.33987e-11 2.86162e-10 0.000673444 1 0 NKX3-2 579 broad.mit.edu 37 4 13545655 13545655 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:13545655C>A uc003gmx.2 - 0 460 c.384G>T c.(382-384)ccG>ccT p.P128P NM_001189 NP_001180 P78367 NKX32_HUMAN Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA. 128 negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|lung(4)|prostate(1) 7 GCTCACAGACCGGCTGGCCGA 0.731000 6 5 2.7689e-08 4.84514e-07 8.12818e-05 1 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T C C TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:29628243T>C uc010ztl.1 + 2 187 c.155T>C c.(154-156)tTg>tCg p.L52S FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 100 5 0 0 0.000602214 0 0 PTPRT 11122 broad.mit.edu 37 20 41385186 41385186 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:41385186G>T uc002xkg.3 - 5 959 c.775C>A c.(775-777)Cag>Aag p.Q259K PTPRT_uc010ggj.3_Missense_Mutation_p.Q259K NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 259 Ig-like C2-type. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ACGCTCCGCTGGGCAGTGTCT 0.602000 17 20 7.41877e-09 1.34423e-07 0.000229342 1 0 GGT7 2686 broad.mit.edu 37 20 33444642 33444642 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:33444642G>T uc002xay.3 - 7 1112 c.1069C>A c.(1069-1071)Ctt>Att p.L357I GGT7_uc002xaz.1_Missense_Mutation_p.L374I NM_178026 NP_821158 Q9UJ14 GGT7_HUMAN Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA. 357 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 TTCTCCACAAGGGCGCTGTAA 0.597000 14 9 3.07112e-06 4.51583e-05 6.40141e-05 1 0 CNGB3 54714 broad.mit.edu 37 8 87680367 87680367 + Nonsense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr8:87680367C>A uc003ydx.3 - 4 571 c.523G>T c.(523-525)Gaa>Taa p.E175* CNGB3_uc010maj.3_Nonsense_Mutation_p.E37* NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 175 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TCATCGCTTTCTTTTACTGGT 0.348000 49 32 2.61193e-14 6.43475e-13 0.000279167 1 0 SMC1B 27127 broad.mit.edu 37 22 45795021 45795021 + Missense_Mutation SNP T G G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:45795021T>G uc003bgc.3 - 5 1119 c.1067A>C c.(1066-1068)gAa>gCa p.E356A SMC1B_uc003bgd.3_Missense_Mutation_p.E356A|SMC1B_uc003bge.1_Missense_Mutation_p.E139A NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 356 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TAAAATTTCTTCCTCAATCTG 0.373000 190 54 0 0 0.000781405 0 0 PEX6 5190 broad.mit.edu 37 6 42934283 42934283 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:42934283G>T uc003otf.3 - 9 2167 c.2074C>A c.(2074-2076)Cag>Aag p.Q692K PEX6_uc010jya.3_Non-coding_Transcript NM_000287 NP_000278 Q13608 PEX6_HUMAN Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA. 692 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) CCAACGGCCTGGGAGTGAGCT 0.602000 62 21 6.33239e-15 1.63913e-13 0.000175454 1 0 RIMS4 140730 broad.mit.edu 37 20 43399954 43399954 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:43399954G>T uc010ggu.3 - 1 268 c.201C>A c.(199-201)tcC>tcA p.S67S RIMS4_uc002xms.3_Silent_p.S66S NM_001205317 NP_001192246 Q9H426 RIMS4_HUMAN Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA. 66 exocytosis|neurotransmitter transport cell junction|synapse central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1) 29 Myeloproliferative disorder(115;0.0122) TGTCCTCAATGGACTCGTGGC 0.647000 46 32 8.16721e-17 2.29376e-15 0.000339439 1 0 DCLK1 9201 broad.mit.edu 37 13 36382385 36382386 + Missense_Mutation DNP CC AA AA TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr13:36382385_36382386CC>AA uc001uvf.3 - 13 2121_2122 c.1838_1839GG>TT c.(1837-1839)tgg>tTT p.W613F MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.W306F|DCLK1_uc010teh.2_Missense_Mutation_p.W306F|DCLK1_uc010abk.3_Missense_Mutation_p.W133F NM_004734 NP_004725 O15075 DCLK1_HUMAN Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA. 613 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) AAACATTATCCCAGTATGGAGA 0.426000 353 9 0 0 6.4e-05 0 0 ELN 2006 broad.mit.edu 37 7 73452041 73452041 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:73452041G>T uc003tzw.3 + 3 259 c.168G>T c.(166-168)ctG>ctT p.L56L ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Silent_p.L56L|ELN_uc003tzy.3_Silent_p.L46L|ELN_uc003tzz.3_Silent_p.L56L|ELN_uc003tzo.3_Silent_p.L56L|ELN_uc003tzp.3_Silent_p.L46L|ELN_uc003tzq.3_Silent_p.L56L|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Silent_p.L56L|ELN_uc003tzt.3_Silent_p.L56L|ELN_uc003tzu.3_Silent_p.L56L|ELN_uc003tzv.3_Silent_p.L46L|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.L46L|ELN_uc011kff.2_Silent_p.L56L NM_000501 NP_001075224 P15502 ELN_HUMAN Homo sapiens elastin (ELN), transcript variant 1, mRNA. 56 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding p.A55A(1) 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) CTGCAGCGCTGGGGCCTGGAG 0.592000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 14 10 6.40141e-05 0.000870623 6.40141e-05 1 0 ACSM3 6296 broad.mit.edu 37 16 20781506 20781506 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:20781506C>A uc010vba.2 + 0 201 c.126C>A c.(124-126)ttC>ttA p.F42L ACSM3_uc002dhq.3_Missense_Mutation_p.F50L|ACSM3_uc002dhr.3_Missense_Mutation_p.F50L NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA. 50 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding p.S41S(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 AACAGGACTTCAAACTGGGGA 0.443000 24 26 7.68411e-24 2.80271e-22 0.000227799 1 0 NLRP3 114548 broad.mit.edu 37 1 247587301 247587301 + Nonsense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:247587301G>T uc001icr.3 + 4 694 c.556G>T c.(556-558)Gag>Tag p.E186* NLRP3_uc001ics.3_Nonsense_Mutation_p.E186*|NLRP3_uc001icu.3_Nonsense_Mutation_p.E186*|NLRP3_uc001icw.3_Nonsense_Mutation_p.E186*|NLRP3_uc001icv.3_Nonsense_Mutation_p.E186*|NLRP3_uc010pyw.2_Nonsense_Mutation_p.E184*|NLRP3_uc001ict.1_Nonsense_Mutation_p.E184* NM_001079821 NP_001230062 Q96P20 NALP3_HUMAN Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA. 186 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAGGGAGCAGGAGCTTCTGGC 0.567000 15 18 8.34094e-07 1.28712e-05 0.000132079 1 0 HDAC10 83933 broad.mit.edu 37 22 50686341 50686341 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:50686341C>T uc003bkg.3 - 12 1688 c.1315G>A c.(1315-1317)Gag>Aag p.E439K TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc010hav.3_Missense_Mutation_p.E419K|HDAC10_uc003bkh.3_Missense_Mutation_p.E232K|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_Missense_Mutation_p.E73K NM_032019 NP_114408 Q969S8 HDA10_HUMAN Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA. 439 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCTGTCTCCTCCCTCAGGGCT 0.647000 8 20 0 0 0.00047179 0 0 TIFAB 497189 broad.mit.edu 37 5 134785550 134785550 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:134785550G>T uc003law.4 - 1 281 c.80C>A c.(79-81)cCa>cAa p.P27Q C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Missense_Mutation_p.P27Q NM_001099221 NP_001092691 Q6ZNK6 TIFAB_HUMAN Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA. 27 breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTGCAGCCGTGGTGGGACATT 0.647000 35 20 9.95505e-16 2.65012e-14 0.000295444 1 0 EDIL3 10085 broad.mit.edu 37 5 83402504 83402504 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:83402504C>A uc003kio.1 - 5 1033 c.614G>T c.(613-615)tGg>tTg p.W205L EDIL3_uc003kip.1_Missense_Mutation_p.W195L NM_005711 NP_005702 O43854 EDIL3_HUMAN Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA. 205 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TGCAGCTGTCCACGCATTTAT 0.413000 88 9 7.48243e-07 1.17072e-05 0.000442599 1 0 ZNF492 57615 broad.mit.edu 37 19 22847622 22847622 + Missense_Mutation SNP A C C TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:22847622A>C uc002nqw.3 + 3 1395 c.1151A>C c.(1150-1152)aAg>aCg p.K384T NM_020855 NP_065906 Q9P255 ZN492_HUMAN Homo sapiens zinc finger protein 492 (ZNF492), mRNA. 384 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ACTACACATAAGAGAATTCAT 0.378000 9 5 0 0 0.000673444 0 0 EGF 1950 broad.mit.edu 37 4 110909779 110909779 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:110909779C>A uc003hzy.4 + 17 3100 c.2648C>A c.(2647-2649)cCt>cAt p.P883H EGF_uc011cfu.2_Missense_Mutation_p.P841H|EGF_uc011cfv.2_Missense_Mutation_p.P883H|EGF_uc010imk.3_Intron NM_001963 NP_001954 P01133 EGF_HUMAN Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA. 883 EGF-like 7; calcium-binding (Potential). DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GTGTGCCCCCCTGCCTCCTCC 0.473000 132 16 3.45872e-05 0.000479694 0.000422831 1 0 CTSS 1520 broad.mit.edu 37 1 150720281 150720281 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:150720281C>A uc001evn.3 - 6 1129 c.868G>T c.(868-870)Ggg>Tgg p.G290W CTSS_uc010pcj.2_Missense_Mutation_p.G240W NM_004079 NP_004070 P25774 CATS_HUMAN Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA. 290 immune response|proteolysis extracellular region|lysosome cysteine-type endopeptidase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 15 all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171) TATTCTTTCCCATTAAGATCA 0.358000 49 82 1.55521e-42 6.93302e-41 0.000781405 1 0 TCEA3 6920 broad.mit.edu 37 1 23720379 23720379 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:23720379G>A uc021oig.1 - 7 947 c.812C>T c.(811-813)aCg>aTg p.T271M TCEA3_uc009vqm.2_Missense_Mutation_p.T40M NM_003196 NP_003187 O75764 TCEA3_HUMAN Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA. 271 TFIIS central. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) CACCTCTGCCGTCATCTTGGC 0.637000 6 15 0 0 0.000219431 0 0 MAPK1IP1L 93487 broad.mit.edu 37 14 55518520 55518520 + Splice_Site SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr14:55518520G>T uc001xbq.1 + 1 160 c.-4_splice c.e1+1 NM_144578 NP_653179 Q8NDC0 MISSL_HUMAN Homo sapiens mitogen-activated protein kinase 1 interacting protein 1-like (MAPK1IP1L), mRNA. endometrium(2)|large_intestine(1)|lung(3) 6 GGATATTGCCGGGTGAGGCTG 0.682000 35 23 6.55177e-30 2.62866e-28 0.000184323 1 0 RICTOR 253260 broad.mit.edu 37 5 38963125 38963125 + Missense_Mutation SNP C G G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:38963125C>G uc003jlo.2 - 16 1441 c.1419G>C c.(1417-1419)ttG>ttC p.L473F RICTOR_uc003jlp.2_Missense_Mutation_p.L473F|RICTOR_uc010ivf.2_Missense_Mutation_p.L188F NM_152756 NP_689969 Q6R327 RICTR_HUMAN Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA. 473 T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade TORC2 complex|cytosol protein binding p.A472A(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TTAAACAGTTCAAGGCTGCAC 0.353000 108 44 0 0 0.000437636 0 0 CEACAM19 56971 broad.mit.edu 37 19 45183602 45183602 + Missense_Mutation SNP T G G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:45183602T>G uc002ozo.4 + 4 1182 c.702T>G c.(700-702)gaT>gaG p.D234E CEACAM19_uc002ozp.4_Missense_Mutation_p.D234E NM_020219 NP_064604 Q7Z692 CEA19_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA. 234 integral to membrane p.D234Y(1)|p.H233R(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 11 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) CTGCTCATGATGCTGGTAAGG 0.557000 139 75 0 0 0.000781405 0 0 TRPC4 7223 broad.mit.edu 37 13 38211448 38211448 + Silent SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr13:38211448G>A uc010abx.3 - 10 2776 c.2541C>T c.(2539-2541)atC>atT p.I847I TRPC4_uc010abv.3_Silent_p.I422I|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Silent_p.I842I|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Silent_p.I669I|TRPC4_uc010aby.3_Intron NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 842 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CAAAGTTTTTGATATCGGTCA 0.428000 125 21 0 0 0.000175454 0 0 FREM2 341640 broad.mit.edu 37 13 39266448 39266448 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr13:39266448C>A uc001uwv.3 + 0 5276 c.4967C>A c.(4966-4968)cCc>cAc p.P1656H NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA. 1656 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) AACAGTGTCCCCCAAATCGCA 0.483000 393 30 3.57733e-08 6.14491e-07 0.000279167 1 0 UGT2B10 7365 broad.mit.edu 37 4 69879764 69879764 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:69879764C>T uc011cao.1 - 4 970 c.844G>A c.(844-846)Gcc>Acc p.A282T UGT2B10_uc011can.1_Missense_Mutation_p.A198T P36537 UDB10_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA. 326 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 29 TTGGCAAGGGCTGTTGCAATT 0.428000 101 25 0 0 0.000720815 0 0 SYN3 8224 broad.mit.edu 37 22 32929779 32929779 + Splice_Site SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:32929779C>T uc003amx.3 - 9 1257 c.1095_splice c.e9+1 p.E365_splice SYN3_uc003amy.3_Splice_Site_p.E365_splice|SYN3_uc003amz.3_Splice_Site_p.E364_splice NM_003490 NP_003481 O14994 SYN3_HUMAN Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA. 365 C; actin-binding and synaptic-vesicle binding. neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CATCCCTCACCTCGATGATGT 0.602000 60 10 0 0 6.40141e-05 0 0 OR2F2 135948 broad.mit.edu 37 7 143633062 143633062 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:143633062C>A uc011ktv.2 + 0 737 c.737C>A c.(736-738)aCg>aAg p.T246K NM_001004685 NP_001004685 O95006 OR2F2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA. 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1) 32 Melanoma(164;0.0903) TCTCACCTCACGGTGGTTGCC 0.517000 27 22 7.87624e-14 1.91519e-12 0.000375601 1 0 SCAPER 49855 broad.mit.edu 37 15 76668513 76668513 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:76668513G>T uc002bby.3 - 27 3904 c.3845C>A c.(3844-3846)cCa>cAa p.P1282Q SCAPER_uc010bkr.3_Intron|SCAPER_uc002bbx.3_Missense_Mutation_p.P1036Q NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA. 1281 endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 CTGGTTATCTGGGTGGTTGAC 0.557000 36 13 4.93089e-13 1.14925e-11 0.000219431 1 0 UBAP2L 9898 broad.mit.edu 37 1 154227725 154227725 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:154227725C>A uc001fep.4 + 16 2174 c.2007C>A c.(2005-2007)acC>acA p.T669T UBAP2L_uc009wot.3_Silent_p.T669T|UBAP2L_uc010pek.2_Silent_p.T661T|UBAP2L_uc010pel.2_Silent_p.T679T|UBAP2L_uc010pen.2_Silent_p.T583T|UBAP2L_uc001feq.3_5'UTR|UBAP2L_uc001fer.3_5'Flank NM_014847 NP_055662 Q14157 UBP2L_HUMAN Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA. 669 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGACGACAACCAATCAGCATT 0.502000 50 114 2.51308e-46 1.14764e-44 0.000781405 1 0 EGFR 1956 broad.mit.edu 37 7 55272965 55272965 + Silent SNP C A A rs143770509 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:55272965C>A uc003tqk.3 + 27 3534 c.3288C>A c.(3286-3288)tcC>tcA p.S1096S EGFR_uc022adn.1_Silent_p.S1051S|EGFR_uc011kco.2_Silent_p.S1043S NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 1096 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TAAACCAGTCCGTTCCCAAAA 0.527000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 17 9 2.74318e-10 5.50301e-09 0.000442599 1 0 PEG3 5178 broad.mit.edu 37 19 57328938 57328938 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:57328938G>T uc002qnu.2 - 6 1223 c.872C>A c.(871-873)aCt>aAt p.T291N PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.T262N|PEG3_uc002qnv.2_Missense_Mutation_p.T291N|PEG3_uc002qnw.2_Missense_Mutation_p.T167N|PEG3_uc002qnx.2_Missense_Mutation_p.T165N|PEG3_uc010etr.2_Missense_Mutation_p.T291N NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 291 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K290K(1) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) TTCAGGCATAGTTTTTAGACC 0.463000 64 42 1.51926e-22 5.20345e-21 0.000781405 1 0 FCGBP 8857 broad.mit.edu 37 19 40420122 40420122 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:40420122C>A uc002omp.4 - 5 2880 c.2872G>T c.(2872-2874)Ggg>Tgg p.G958W NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 958 VWFD 2. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGCACCTGCCCATCTGCTGCT 0.587000 22 9 2.27111e-07 3.67632e-06 0.00010058 1 0 KRT83 3889 broad.mit.edu 37 12 52710738 52710738 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:52710738G>T uc001saf.2 - 4 883 c.820C>A c.(820-822)Ctg>Atg p.L274M NM_002282 NP_002273 P78385 KRT83_HUMAN Homo sapiens keratin 83 (KRT83), mRNA. 274 Linker 12.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TCCATGTTCAGGTCCCGGCTG 0.572000 59 36 1.07637e-12 2.44775e-11 0.000953801 1 0 IL37 27178 broad.mit.edu 37 2 113675292 113675292 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:113675292G>T uc002tij.3 + 3 388 c.346G>T c.(346-348)Ggg>Tgg p.G116W IL37_uc002tim.3_Missense_Mutation_p.G55W|IL37_uc002tik.3_Missense_Mutation_p.G95W|IL37_uc002til.3_Missense_Mutation_p.G76W|IL37_uc002tin.3_Missense_Mutation_p.G90W NM_014439 NP_055254 Q9NZH6 IL37_HUMAN Homo sapiens interleukin 37 (IL37), transcript variant 1, mRNA. 116 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 GGTCTCTAAAGGGGAGTTTTG 0.483000 44 36 2.05212e-20 6.7016e-19 0.000191422 1 0 CA10 56934 broad.mit.edu 37 17 49708945 49708945 + Nonstop_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:49708945C>A uc002itv.4 - 9 1741 c.1005G>T c.(1003-1005)taG>taT p.*335Y CA10_uc002itw.4_Nonstop_Mutation_p.*329Y|CA10_uc002itx.4_Nonstop_Mutation_p.*329Y|CA10_uc002ity.4_Nonstop_Mutation_p.*329Y NM_020178 NP_064563 Q9NS85 CAH10_HUMAN Homo sapiens carbonic anhydrase X (CA10), transcript variant 2, mRNA. 0 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GCTTTGTTCCCTACTTGAGGA 0.398000 66 93 7.35649e-22 2.50433e-20 0.000781405 1 0 ARHGAP30 257106 broad.mit.edu 37 1 161018682 161018682 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:161018682C>A uc001fxl.3 - 11 2475 c.2129G>T c.(2128-2130)aGg>aTg p.R710M USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.R556M|ARHGAP30_uc009wtx.3_Missense_Mutation_p.R383M NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 710 Glu-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.R710M(2) breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) TGTCTCTTCCCTACTCCCTTC 0.527000 240 67 1.8337e-62 8.58326e-61 0.000781405 1 0 EPS8 2059 broad.mit.edu 37 12 15784514 15784514 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:15784514G>T uc009zif.3 - 17 2000 c.1906C>A c.(1906-1908)Ccc>Acc p.P636T EPS8_uc001rdb.3_Missense_Mutation_p.P636T|EPS8_uc009zig.3_Missense_Mutation_p.P376T|EPS8_uc010shv.2_Missense_Mutation_p.P376T NM_004447 NP_004438 Q12929 EPS8_HUMAN Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA. 636 Pro-rich. cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) GGGGGAAGGGGAACAGGAACA 0.507000 44 16 1.67942e-08 3.00423e-07 0.00074312 1 0 NEFM 4741 broad.mit.edu 37 8 24771612 24771612 + Silent SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr8:24771612G>A uc003xed.4 + 0 339 c.306G>A c.(304-306)aaG>aaA p.K102K NEFM_uc011lac.1_Silent_p.K102K|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_3'UTR NM_005382 NP_005373 P07197 NFM_HUMAN Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA. 102 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CCAACGAGAAGGAGCAGCTGC 0.632000 13 6 0 0 0.000157383 0 0 abParts 0 broad.mit.edu 37 22 23029766 23029766 + Splice_Site SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:23029766G>T uc021wml.1 + 180 c.9725_splice c.e180-1 abParts_uc021wmm.1_Intron Parts of antibodies, mostly variable regions. CAAGCAGACAGGGAAGTGAGA 0.517000 56 13 4.3838e-07 6.95588e-06 0.000151284 1 0 LRP1 4035 broad.mit.edu 37 12 57566963 57566963 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:57566963C>A uc001snd.3 + 20 3642 c.3176C>A c.(3175-3177)cCt>cAt p.P1059H NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1059 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.P1058T(3) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACGAGGCCCCCTGGTGGCTGC 0.672000 OREG0021936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 10 1.61879e-10 3.29448e-09 0.00010058 1 0 CLDN17 26285 broad.mit.edu 37 21 31538470 31538470 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr21:31538470C>A uc011acv.2 - 0 502 c.466G>T c.(466-468)Ggt>Tgt p.G156C NM_012131 NP_036263 P56750 CLD17_HUMAN Homo sapiens claudin 17 (CLDN17), mRNA. 156 calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 23 CGTTTCTGACCTATGTGGATG 0.517000 34 26 4.26978e-12 9.36849e-11 0.00047179 1 0 KIF3B 9371 broad.mit.edu 37 20 30904662 30904662 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:30904662G>T uc002wxq.3 + 4 1913 c.1733G>T c.(1732-1734)aGg>aTg p.R578M KIF3B_uc010ztw.2_Missense_Mutation_p.R516M NM_004798 NP_004789 O15066 KIF3B_HUMAN Homo sapiens kinesin family member 3B (KIF3B), mRNA. 578 anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GAGCTCACCAGGGAGCTGAAA 0.512000 51 7 0.000157383 0.00205587 0.000157383 1 0 ZRANB3 84083 broad.mit.edu 37 2 136033229 136033229 + Missense_Mutation SNP T G G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:136033229T>G uc002tum.3 - 8 1180 c.1063A>C c.(1063-1065)Aca>Cca p.T355P ZRANB3_uc002tuk.3_5'UTR|ZRANB3_uc002tul.3_Missense_Mutation_p.T355P|ZRANB3_uc002tun.1_Missense_Mutation_p.T295P NM_032143 NP_115519 Q5FWF4 ZRAB3_HUMAN Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA. 355 Helicase C-terminal. intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) ACTGCTTCTGTGCAAGCTTGG 0.328000 27 9 0 0 6.40141e-05 0 0 TULP3 7289 broad.mit.edu 37 12 3029954 3029954 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:3029954G>T uc001qlj.2 + 2 200 c.119G>T c.(118-120)aGg>aTg p.R40M TULP3_uc010sef.1_Non-coding_Transcript|TULP3_uc009zec.1_Intron|TULP3_uc010seh.1_Missense_Mutation_p.R40M|TULP3_uc010sei.1_Intron NM_001160408 NP_001153880 O75386 TULP3_HUMAN Homo sapiens tubby like protein 3 (TULP3), transcript variant 2, mRNA. 40 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 OV - Ovarian serous cystadenocarcinoma(31;0.000818) AAGAGGCAAAGGAAAAAGCGC 0.507000 58 40 8.04919e-23 2.80822e-21 0.000781405 1 0 EPM2AIP1 9852 broad.mit.edu 37 3 37034262 37034262 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:37034262C>A uc003cgk.3 - 0 534 c.307G>T c.(307-309)Ggg>Tgg p.G103W MLH1_uc011aye.2_5'Flank|MLH1_uc003cgl.3_5'Flank|MLH1_uc011ayb.2_5'Flank|MLH1_uc010hge.3_5'Flank|MLH1_uc011ayc.2_5'Flank|MLH1_uc011ayd.2_5'Flank|MLH1_uc003cgo.3_5'Flank|MLH1_uc003cgn.4_5'Flank NM_014805 NP_055620 Q7L775 EPMIP_HUMAN Homo sapiens EPM2A (laforin) interacting protein 1 (EPM2AIP1), mRNA. 103 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 CGGCAGAGCCCGAGGCCTGCA 0.667000 46 54 2.12129e-23 7.68727e-22 0.000781405 1 0 PPP1R1A 5502 broad.mit.edu 37 12 54974740 54974740 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:54974740C>A uc001sgg.2 - 5 669 c.498G>T c.(496-498)aaG>aaT p.K166N NM_006741 NP_006732 Q13522 PPR1A_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1A (PPP1R1A), mRNA. 166 Interaction with PPP1R15A. glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity lung(2) 2 AGTTGGCTCCCTTGGAATCCA 0.512000 97 72 2.08929e-35 8.95841e-34 0.000781405 1 0 FOXN3 1112 broad.mit.edu 37 14 89628893 89628893 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr14:89628893G>T uc001xxo.4 - 6 1475 c.1338C>A c.(1336-1338)ccC>ccA p.P446P FOXN3_uc001xxn.4_Silent_p.P424P|FOXN3_uc010atk.3_Silent_p.P424P NM_001085471 NP_001078940 O00409 FOXN3_HUMAN Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA. 446 DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CATCGCTCTCGGGGGGCTTTT 0.582000 22 12 9.31168e-06 0.000134457 0.000151284 1 0 IQCG 84223 broad.mit.edu 37 3 197670838 197670838 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:197670838G>T uc003fyo.3 - 2 239 c.93C>A c.(91-93)acC>acA p.T31T IQCG_uc003fyp.3_Silent_p.T31T|IQCG_uc003fyq.4_Silent_p.T31T NM_001134435 NP_115639 Q9H095 IQCG_HUMAN Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA. 31 p.T31T(2) autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) CTTCTTCTACGGTACTAGGTG 0.453000 180 9 0.000442599 0.00567598 0.000442599 1 0 UNC5B 219699 broad.mit.edu 37 10 73057728 73057728 + Silent SNP G T T rs143540096 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr10:73057728G>T uc001jro.3 + 15 3004 c.2553G>T c.(2551-2553)ctG>ctT p.L851L UNC5B_uc001jrp.3_Silent_p.L840L NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA. 851 L -> P (in Ref. 3; BAB14276). apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 CCACCCAGCTGGGACCTTATG 0.602000 47 8 1.12685e-05 0.000161057 0.000274275 1 0 TCHH 7062 broad.mit.edu 37 1 152082741 152082741 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:152082741C>A uc009wne.1 - 2 3224 c.2952G>T c.(2950-2952)caG>caT p.Q984H TCHH_uc001ezp.2_Missense_Mutation_p.Q984H NM_007113 NP_009044 Q07283 TRHY_HUMAN Homo sapiens trichohyalin (TCHH), mRNA. 984 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) tctcccgctcctggcgccttc 0.577000 44 85 1.81475e-65 8.56593e-64 0.000781405 1 0 PCLO 27445 broad.mit.edu 37 7 82582386 82582386 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:82582386G>T uc003uhx.2 - 4 8172 c.7883C>A c.(7882-7884)gCt>gAt p.A2628D PCLO_uc003uhv.2_Missense_Mutation_p.A2628D|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2559 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AATTTCTACAGCTGTCACAGG 0.448000 74 14 3.27435e-08 5.64173e-07 0.000219431 1 0 HDAC10 83933 broad.mit.edu 37 22 50686339 50686339 + Silent SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:50686339C>T uc003bkg.3 - 12 1690 c.1317G>A c.(1315-1317)gaG>gaA p.E439E TUBGCP6_uc003bkb.1_5'Flank|TUBGCP6_uc010har.1_5'Flank|TUBGCP6_uc010has.1_5'Flank|TUBGCP6_uc010hau.1_5'Flank|HDAC10_uc010hav.3_Silent_p.E419E|HDAC10_uc003bkh.3_Silent_p.E232E|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_Silent_p.E73E NM_032019 NP_114408 Q969S8 HDA10_HUMAN Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA. 439 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTTCTGTCTCCTCCCTCAGGG 0.647000 9 19 0 0 0.000375601 0 0 HDAC10 83933 broad.mit.edu 37 22 50686488 50686488 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:50686488C>T uc003bkg.3 - 12 1541 c.1168G>A c.(1168-1170)Gca>Aca p.A390T HDAC10_uc010hav.3_Missense_Mutation_p.A370T|HDAC10_uc003bkh.3_Missense_Mutation_p.A183T|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_Missense_Mutation_p.A24T NM_032019 NP_114408 Q969S8 HDA10_HUMAN Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA. 390 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GATGCAGCTGCCTTACACACT 0.652000 11 36 0 0 0.00058488 0 0 SLC27A3 11000 broad.mit.edu 37 1 153748448 153748448 + Nonsense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:153748448G>T uc001fcz.3 + 0 681 c.616G>T c.(616-618)Gga>Tga p.G206* SLC27A3_uc009won.3_Non-coding_Transcript NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA. 206 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CAGAGGTGGAGGAGCCGCCGC 0.726000 9 5 0.000602214 0.00760143 0.000602214 1 0 CERK 64781 broad.mit.edu 37 22 47086075 47086075 + Missense_Mutation SNP A G G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:47086075A>G uc003bia.3 - 11 1462 c.1355T>C c.(1354-1356)gTt>gCt p.V452A CERK_uc010hae.3_Missense_Mutation_p.V254A NM_022766 NP_073603 Q8TCT0 CERK1_HUMAN Homo sapiens ceramide kinase (CERK), mRNA. 452 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 20 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) GACGCGATAAACTTCAACAAA 0.517000 310 23 0 0 0.00047179 0 0 TCERG1L 256536 broad.mit.edu 37 10 133106588 133106588 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr10:133106588G>T uc001lkp.3 - 2 642 c.556C>A c.(556-558)Cat>Aat p.H186N NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA. 186 cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) TCATGCCCATGGAAAAACCTT 0.493000 41 16 1.99824e-07 3.25336e-06 0.000566183 1 0 GLI2 2736 broad.mit.edu 37 2 121736037 121736037 + Nonsense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:121736037G>T uc010flp.3 + 8 1426 c.1396G>T c.(1396-1398)Gag>Tag p.E466* GLI2_uc002tmq.1_Nonsense_Mutation_p.E138*|GLI2_uc002tmr.1_Nonsense_Mutation_p.E121*|GLI2_uc002tmt.4_Nonsense_Mutation_p.E138*|GLI2_uc002tmu.4_Nonsense_Mutation_p.E121*|GLI2_uc002tmw.1_Nonsense_Mutation_p.E449* NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 466 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CATCCACGGGGAGAAGAAGGA 0.632000 65 34 3.33393e-15 8.7508e-14 0.000953801 1 0 TRAF3IP3 80342 broad.mit.edu 37 1 209933495 209933495 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:209933495C>A uc001hho.3 + 2 531 c.111C>A c.(109-111)ccC>ccA p.P37P TRAF3IP3_uc001hhm.2_Silent_p.P37P|TRAF3IP3_uc001hhn.3_Silent_p.P37P|TRAF3IP3_uc009xcr.3_Silent_p.P37P NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA. 37 integral to membrane protein binding p.R36S(1) breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) GCTGCCGTCCCAATGTGACCA 0.632000 34 11 3.07112e-06 4.51583e-05 6.40141e-05 1 0 FGD1 2245 broad.mit.edu 37 X 54472556 54472556 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chrX:54472556G>T uc004dtg.3 - 17 3606 c.2872C>A c.(2872-2874)Cga>Aga p.R958R NM_004463 NP_004454 P98174 FGD1_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA. 958 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GTCTTGTCTCGGGTCTGGGGG 0.632000 1 4 4.096e-09 7.54335e-08 3.59834e-05 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140214949 140214949 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:140214949C>A uc003lhq.2 + 0 981 c.981C>A c.(979-981)ttC>ttA p.F327L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.F327L NM_018910 NP_061733 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA. 342 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAAAGGCTTCCCACCCCTGG 0.478000 32 16 7.21436e-19 2.17866e-17 0.000132079 1 0 ODF2L 57489 broad.mit.edu 37 1 86852689 86852689 + Nonsense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:86852689C>A uc001dll.2 - 1 384 c.22G>T c.(22-24)Gga>Tga p.G8* ODF2L_uc001dlp.3_Nonsense_Mutation_p.G8*|ODF2L_uc010osg.2_Nonsense_Mutation_p.G8*|ODF2L_uc001dlm.2_Nonsense_Mutation_p.G8*|ODF2L_uc021opg.1_5'UTR|ODF2L_uc001dlq.2_Intron|ODF2L_uc009wcr.2_Intron NM_001007022 NP_001007023 Q9ULJ1 ODF2L_HUMAN Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA. 8 centrosome endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 24 all cancers(265;0.0313)|Epithelial(280;0.0611) GAATGACTTCCATCATTTACA 0.368000 31 25 3.01185e-09 5.56498e-08 0.000586117 1 0 FOXRED1 55572 broad.mit.edu 37 11 126142894 126142894 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:126142894G>T uc001qdi.3 + 2 504 c.337G>T c.(337-339)Ggt>Tgt p.G113C FOXRED1_uc010sbn.2_5'UTR|FOXRED1_uc010sbq.2_5'UTR|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_5'UTR|FOXRED1_uc010sbr.2_Missense_Mutation_p.G99C|FOXRED1_uc001qdk.3_5'UTR NM_017547 NP_060017 Q96CU9 FXRD1_HUMAN Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 113 integral to membrane|mitochondrion oxidoreductase activity|protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) GCTCTCAGTAGGTGGGATTTG 0.463000 40 34 2.66277e-13 6.28435e-12 0.000270559 1 0 PARP8 79668 broad.mit.edu 37 5 50129836 50129836 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:50129836C>A uc003jon.4 + 24 2513 c.2331C>A c.(2329-2331)tcC>tcA p.S777S PARP8_uc011cpz.2_Silent_p.S669S|PARP8_uc003joo.3_Silent_p.S777S|PARP8_uc003jop.3_Silent_p.S735S NM_001178055 NP_078891 Q8N3A8 PARP8_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA. 777 PARP catalytic. S -> A (in a colorectal cancer sample; somatic mutation). intracellular NAD+ ADP-ribosyltransferase activity p.S777A(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) GACAGCAATCCCAATTCCTGC 0.323000 52 16 4.96729e-08 8.37876e-07 0.000132079 1 0 IGSF5 150084 broad.mit.edu 37 21 41165479 41165479 + Missense_Mutation SNP C A A rs148668253 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr21:41165479C>A uc002yyo.3 + 7 1170 c.1067C>A c.(1066-1068)cCc>cAc p.P356H NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA. 356 integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) TCTCTCCCTCCCAAATCCTGT 0.423000 107 40 3.86236e-30 1.56078e-28 0.000781405 1 0 STC2 8614 broad.mit.edu 37 5 172744956 172744956 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:172744956G>T uc003mco.1 - 3 2113 c.803C>A c.(802-804)cCa>cAa p.P268Q STC2_uc003mcn.1_Missense_Mutation_p.P183Q NM_003714 NP_003705 O76061 STC2_HUMAN Homo sapiens stanniocalcin 2 (STC2), mRNA. 268 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ATGGGCGTTTGGGTGGCTCTT 0.637000 43 22 1.55469e-16 4.25986e-15 0.00047179 1 0 MED25 81857 broad.mit.edu 37 19 50333347 50333347 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:50333347G>T uc002ppw.2 + 6 754 c.691G>T c.(691-693)Ggg>Tgg p.G231W MED25_uc010ybe.2_Intron|MED25_uc002ppx.1_Missense_Mutation_p.G12W NM_030973 NP_112235 Q71SY5 MED25_HUMAN Homo sapiens mediator complex subunit 25 (MED25), mRNA. 231 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) GCTCTCAGTTGGGGGTGGCTC 0.622000 65 34 5.71845e-15 1.48706e-13 0.000191422 1 0 MYO6 4646 broad.mit.edu 37 6 76540194 76540194 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:76540194C>T uc003pih.1 + 4 602 c.323C>T c.(322-324)tCt>tTt p.S108F MYO6_uc003pig.1_Missense_Mutation_p.S108F|MYO6_uc003pii.1_Missense_Mutation_p.S108F NM_004999 NP_004990 Q9UM54 MYO6_HUMAN Homo sapiens myosin VI (MYO6), mRNA. 108 Myosin head-like. DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) AAAATATATTCTTCAGAAGCA 0.308000 81 40 0 0 0.000270559 0 0 CCR2 729230 broad.mit.edu 37 3 46399343 46399343 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:46399343G>T uc003cpn.4 + 1 810 c.325G>T c.(325-327)Ggg>Tgg p.G109W CCR2_uc003cpm.4_Missense_Mutation_p.G109W|CCR2_uc021wxa.1_Missense_Mutation_p.G109W NM_001123041 NP_001116513 P41597 CCR2_HUMAN Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA. 109 JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) GTGGGTCTTTGGGAATGCAAT 0.443000 192 163 6.78324e-72 3.25654e-70 0.000781405 1 0 NOX5 79400 broad.mit.edu 37 15 69339775 69339775 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:69339775G>T uc002ars.2 + 11 1756 c.1715G>T c.(1714-1716)gGg>gTg p.G572V MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.G526V|NOX5_uc002arp.2_Missense_Mutation_p.G554V|NOX5_uc010bid.2_Missense_Mutation_p.G537V|NOX5_uc010bie.2_Missense_Mutation_p.G372V|NOX5_uc002arr.2_Missense_Mutation_p.G544V|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 572 FAD-binding FR-type. angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GGGCCTTATGGGACCCCCACC 0.597000 43 11 1.08611e-07 1.79431e-06 6.40141e-05 1 0 CPZ 8532 broad.mit.edu 37 4 8613821 8613821 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:8613821G>T uc003glm.3 + 7 1469 c.1295G>T c.(1294-1296)aGg>aTg p.R432M CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.R421M|CPZ_uc003gln.3_Missense_Mutation_p.R295M NM_001014447 NP_001014448 Q66K79 CBPZ_HUMAN Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA. 432 Wnt receptor signaling pathway|proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding p.N431N(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TCGGAGAATAGGTGTGGAGGC 0.587000 37 8 5.18039e-06 7.53841e-05 0.000157383 1 0 AGRN 375790 broad.mit.edu 37 1 979052 979052 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:979052C>A uc001ack.2 + 8 1788 c.1738C>A c.(1738-1740)Ctg>Atg p.L580M NM_198576 NP_940978 O00468 AGRIN_HUMAN Homo sapiens agrin (AGRN), mRNA. 580 Kazal-like 6. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CGAGTGCATGCTGCACGTGCA 0.701000 33 14 2.23348e-06 3.34546e-05 0.000422831 1 0 APOB 338 broad.mit.edu 37 2 21235013 21235014 + Missense_Mutation DNP CC AA AA TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:21235013_21235014CC>AA uc002red.3 - 25 4854_4855 c.4726_4727GG>TT c.(4726-4728)ggg>TTg p.G1576L NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1576 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.G1576W(4) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTTATACTTCCCATTGGTGTCA 0.416000 443 11 0 0 6.4e-05 0 0 DNAH2 146754 broad.mit.edu 37 17 7722560 7722560 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:7722560C>A uc002giu.1 + 70 10863 c.10849C>A c.(10849-10851)Ctg>Atg p.L3617M DNAH2_uc010cnm.1_Missense_Mutation_p.L555M NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 3617 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) GGCATCAATCCTGTTCTTCGT 0.582000 9 27 8.88839e-20 2.83671e-18 0.000339439 1 0 TF 7018 broad.mit.edu 37 3 133473449 133473449 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:133473449G>T uc003epu.2 + 8 2164 c.436G>T c.(436-438)Ggg>Tgg p.G146W TF_uc011bls.1_Missense_Mutation_p.G146W|TF_uc011blt.2_Missense_Mutation_p.G19W|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.G146W NM_001063 NP_001054 P02787 TRFE_HUMAN Homo sapiens transferrin (TF), mRNA. 146 Transferrin-like 1. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) CAGGTCCGCTGGGTGGAACAT 0.527000 94 98 4.73232e-52 2.19682e-50 0.000781405 1 0 LAIR1 3903 broad.mit.edu 37 19 54872569 54872569 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:54872569G>T uc002qfk.1 - 2 628 c.318C>A c.(316-318)ccC>ccA p.P106P LAIR1_uc002qfl.1_Silent_p.P106P|LAIR1_uc002qfm.1_Silent_p.P105P|LAIR1_uc002qfn.1_Silent_p.P105P|LAIR1_uc010yex.2_Silent_p.P99P|LAIR1_uc002qfo.3_Silent_p.P88P NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA. 106 Ig-like C2-type. integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) ACCATTTAGGGGGCTTATAAT 0.542000 57 38 2.75727e-19 8.46317e-18 0.000953801 1 0 ADCK5 203054 broad.mit.edu 37 8 145617999 145617999 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr8:145617999G>T uc003zch.3 + 13 1583 c.1529G>T c.(1528-1530)cGg>cTg p.R510L ADCK5_uc003zci.3_Missense_Mutation_p.R99L NM_174922 NP_777582 Q3MIX3 ADCK5_HUMAN Homo sapiens aarF domain containing kinase 5 (ADCK5), mRNA. 510 integral to membrane protein serine/threonine kinase activity endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) AGGGCTGTCCGGGGCTGGAGC 0.692000 6 5 1.23904e-05 0.000174428 0.000602214 1 0 ETV6 2120 broad.mit.edu 37 12 12022795 12022795 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:12022795G>T uc001qzz.3 + 4 1175 c.901G>T c.(901-903)Ggg>Tgg p.G301W ETV6_uc001raa.1_Missense_Mutation_p.G94W NM_001987 NP_001978 P41212 ETV6_HUMAN Homo sapiens ets variant 6 (ETV6), mRNA. 301 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) GCATAGGGAAGGGAAGCCCAT 0.592000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 42 31 7.11191e-15 1.82409e-13 0.000491102 1 0 MUC4 4585 broad.mit.edu 37 3 195492275 195492275 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:195492275G>T uc021xjp.1 - 8 13820 c.13664C>A c.(13663-13665)cCc>cAc p.P4555H MUC4_uc003fuz.3_Missense_Mutation_p.P153H|MUC4_uc003fva.3_Missense_Mutation_p.P35H|MUC4_uc003fvb.3_Missense_Mutation_p.P71H|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.P71H|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.P64H|MUC4_uc021xjn.1_Missense_Mutation_p.P244H|MUC4_uc021xjo.1_Missense_Mutation_p.P35H|MUC4_uc021xjg.1_Missense_Mutation_p.P35H|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.P119H|MUC4_uc021xjj.1_Missense_Mutation_p.P119H|MUC4_uc021xjk.1_Missense_Mutation_p.P296H|MUC4_uc021xjl.1_Missense_Mutation_p.P35H|MUC4_uc003fvo.3_Missense_Mutation_p.P319H|MUC4_uc003fvp.3_Missense_Mutation_p.P268H NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 1312 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) ACGGTAGTTGGGCCTTTCTTC 0.652000 35 10 1.76689e-08 3.10145e-07 0.000442599 1 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273406 145273407 + Missense_Mutation DNP GG TT TT TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:145273406_145273407GG>TT uc001emn.4 + 2 630_631 c.260_261GG>TT c.(259-261)cgg>cTT p.R87L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.R87L|NOTCH2NL_uc001emo.2_Missense_Mutation_p.R87L|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR NM_203458 NP_982283 Q7Z3S9 NT2NL_HUMAN Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA. 87 EGF-like 3. Notch signaling pathway|cell differentiation|multicellular organismal development cytoplasm|extracellular region calcium ion binding p.R87L(3) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 ATGCTCAGCCGGGATACCTATG 0.495000 820 14 0 0 6.4e-05 0 0 PCDH1 5097 broad.mit.edu 37 5 141236886 141236886 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:141236886G>T uc003llp.3 - 3 3367 c.3250C>A c.(3250-3252)Ctg>Atg p.L1084M NM_032420 NP_115796 Q08174 PCDH1_HUMAN Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA. 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TCCTCAGGCAGGGCCAGGGGA 0.627000 22 10 1.08611e-07 1.79431e-06 6.40141e-05 1 0 VPRBP 9730 broad.mit.edu 37 3 51440667 51440667 + Nonsense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:51440667C>A uc003dbe.2 - 22 4401 c.4216G>T c.(4216-4218)Gag>Tag p.E1406* VPRBP_uc021wys.1_Nonsense_Mutation_p.E1405*|VPRBP_uc003dbf.1_Nonsense_Mutation_p.E735* NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA. 1459 Asp/Glu-rich (acidic). interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) GCTAGCTCCTCATCAGAGGGA 0.532000 22 10 2.80697e-09 5.20356e-08 6.40141e-05 1 0 FGF9 2254 broad.mit.edu 37 13 22255252 22255252 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr13:22255252G>T uc001uog.2 + 1 1186 c.349G>T c.(349-351)Ggg>Tgg p.G117W NM_002010 NP_002001 P31371 FGF9_HUMAN Homo sapiens fibroblast growth factor 9 (glia-activating factor) (FGF9), mRNA. 117 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division extracellular space growth factor activity|heparin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2) 9 all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106) all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163) ACTCTACCTCGGGATGAATGA 0.488000 53 25 1.68575e-08 3.00599e-07 0.000184323 1 0 HDAC10 83933 broad.mit.edu 37 22 50686864 50686864 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:50686864C>T uc003bkg.3 - 10 1317 c.944G>A c.(943-945)tGc>tAc p.C315Y HDAC10_uc010hav.3_Missense_Mutation_p.C295Y|HDAC10_uc003bkh.3_Intron|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_5'UTR NM_032019 NP_114408 Q969S8 HDA10_HUMAN Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA. 315 Histone deacetylase. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TACTGTCATGCACACTGACTC 0.657000 10 27 0 0 0.000491102 0 0 MAPK3 5595 broad.mit.edu 37 16 30128225 30128225 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:30128225G>T uc002dws.3 - 6 1107 c.1007C>A c.(1006-1008)cCg>cAg p.P336Q BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Missense_Mutation_p.P222Q|MAPK3_uc002dwv.4_Missense_Mutation_p.P292Q|MAPK3_uc002dwt.3_Missense_Mutation_p.P336Q NM_002746 NP_002737 P27361 MK03_HUMAN Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA. 336 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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 initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) CTCATCCGTCGGGTCATAGTA 0.632000 78 5 0.000602214 0.00760143 0.000602214 1 0 TNRC6B 23112 broad.mit.edu 37 22 40704566 40704566 + Nonsense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:40704566G>T uc011aor.2 + 15 4382 c.4171G>T c.(4171-4173)Gga>Tga p.G1391* TNRC6B_uc003aym.3_Nonsense_Mutation_p.G587*|TNRC6B_uc003ayn.4_Nonsense_Mutation_p.G1281*|TNRC6B_uc003ayo.3_Nonsense_Mutation_p.G1138* NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA. 1391 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body RNA binding|nucleotide binding breast(1) 1 GAAGGAGGCTGGAACCGAGTC 0.498000 25 52 6.60958e-23 2.34975e-21 0.000781405 1 0 ATRN 8455 broad.mit.edu 37 20 3556568 3556568 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:3556568C>A uc002wim.2 + 12 2277 c.2187C>A c.(2185-2187)ccC>ccA p.P729P ATRN_uc002wil.2_Silent_p.P729P|ATRN_uc021vzz.1_Silent_p.P613P NM_139321 NP_647537 O75882 ATRN_HUMAN Homo sapiens attractin (ATRN), transcript variant 1, mRNA. 729 PSI 1. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 ATTGTGTCCCCAGGAACCACA 0.458000 28 17 3.41278e-10 6.79773e-09 0.000566183 1 0 ZNF462 58499 broad.mit.edu 37 9 109687519 109687519 + Silent SNP C A A rs144393411 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr9:109687519C>A uc004bcz.3 + 2 1615 c.1326C>A c.(1324-1326)ccC>ccA p.P442P MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.P290P|ZNF462_uc004bda.3_Silent_p.P290P NM_021224 NP_067047 Q96JM2 ZN462_HUMAN Homo sapiens zinc finger protein 462 (ZNF462), mRNA. 442 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 TCCAGTGCCCCTTTTGTCCTT 0.463000 90 16 1.40151e-16 3.87797e-15 0.000175454 1 0 CASS4 57091 broad.mit.edu 37 20 55012539 55012539 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:55012539G>T uc002xxp.2 + 2 581 c.356G>T c.(355-357)tGg>tTg p.W119L CASS4_uc002xxq.4_Missense_Mutation_p.W119L|CASS4_uc010zze.1_Intron|CASS4_uc002xxr.2_Missense_Mutation_p.W119L|CASS4_uc010gio.2_Missense_Mutation_p.W119L NM_001164116 NP_065089 Q9NQ75 CASS4_HUMAN Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA. 119 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 ATGAGGAGTTGGGCGGAGGGG 0.592000 76 45 8.04919e-23 2.80822e-21 0.000781405 1 0 FAM117B 150864 broad.mit.edu 37 2 203622026 203622026 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:203622026G>T uc010zhx.2 + 5 1205 c.1195G>T c.(1195-1197)Ggg>Tgg p.G399W NM_173511 NP_775782 Q6P1L5 F117B_HUMAN Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA. 399 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 GACGCCTGGTGGGGCAGACAG 0.562000 193 98 2.99567e-70 1.42599e-68 0.000781405 1 0 NR3C2 4306 broad.mit.edu 37 4 149075847 149075847 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:149075847C>A uc003ilj.4 - 4 2583 c.2220G>T c.(2218-2220)atG>atT p.M740I NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron NM_000901 NP_000892 P08235 MCR_HUMAN Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA. 740 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding p.V739F(1) breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) TTTCAAGGACCATAACGGGGG 0.502000 97 47 6.08268e-21 2.02168e-19 0.000781405 1 0 CLP1 10978 broad.mit.edu 37 11 57427470 57427470 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:57427470C>A uc001nkw.3 + 1 661 c.522C>A c.(520-522)gtC>gtA p.V174V CLP1_uc010rjw.2_Intron|CLP1_uc009yml.3_Silent_p.V174V NM_006831 NP_006822 Q92989 CLP1_HUMAN Homo sapiens CLP1, cleavage and polyadenylation factor I subunit, homolog (S. cerevisiae) (CLP1), transcript variant 1, mRNA. 174 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|tRNA splicing, via endonucleolytic cleavage and ligation|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription nucleoplasm|tRNA-intron endonuclease complex ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|ATP-dependent polyribonucleotide 5'-hydroxyl-kinase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|stomach(1) 15 CTGCAGATGTCGAAGAGGGTT 0.547000 13 11 1.58986e-06 2.4267e-05 0.000673444 1 0 MYH10 4628 broad.mit.edu 37 17 8408088 8408088 + Missense_Mutation SNP A C C TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:8408088A>C uc002glm.3 - 27 3619 c.3523T>G c.(3523-3525)Ttg>Gtg p.L1175V MYH10_uc002gll.3_Missense_Mutation_p.L1144V|MYH10_uc010cnx.3_Missense_Mutation_p.L1153V NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 1144 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TCCTCACTCAAGTCCCTTTTC 0.527000 29 31 0 0 0.000409698 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22864188 22864188 + Splice_Site SNP T C C TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:22864188T>C uc001yuq.2 + 16 2275 c.2145_splice c.e16-1 p.R715_splice TUBGCP5_uc001yur.4_Splice_Site_p.R715_splice NM_001102610 NP_001096080 Q96RT8 GCP5_HUMAN Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA. 715 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) TCCATTCAGGTTGGTAGAATA 0.363000 31 22 0 0 0.00047179 0 0 MARK1 4139 broad.mit.edu 37 1 220826477 220826477 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:220826477G>T uc009xdw.3 + 15 2371 c.1774G>T c.(1774-1776)Gct>Tct p.A592S MARK1_uc001hmn.4_Missense_Mutation_p.A591S|MARK1_uc010pun.2_Missense_Mutation_p.A591S|MARK1_uc001hmm.4_Missense_Mutation_p.A569S NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA. 591 intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TTCCCCATCTGCTCACAGTAT 0.498000 60 15 2.23348e-06 3.34546e-05 0.000422831 1 0 BCL11A 53335 broad.mit.edu 37 2 60687604 60687605 + Missense_Mutation DNP GG TT TT TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:60687604_60687605GG>TT uc002sae.1 - 3 2670_2671 c.2442_2443CC>AA c.(2440-2445)accctg>acAAtg p.L815M BCL11A_uc002sab.3_Intron|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.L663M|BCL11A_uc002saf.1_Missense_Mutation_p.L781M NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 815 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGTTTCTCCAGGGTACTGTACA 0.426000 T IGH@ B-CLL 449 14 0 0 6.4e-05 0 0 TMEM66 51669 broad.mit.edu 37 8 29923607 29923607 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr8:29923607G>T uc003xhs.3 - 4 1075 c.891C>A c.(889-891)ccC>ccA p.P297P MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Silent_p.P125P NM_016127 NP_057211 Q96BY9 TMM66_HUMAN Homo sapiens transmembrane protein 66 (TMEM66), mRNA. 297 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) CAGGGTAGGAGGGAGGATAGG 0.478000 39 12 4.36969e-10 8.55211e-09 0.000151284 1 0 RGR 5995 broad.mit.edu 37 10 86012746 86012746 + Silent SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr10:86012746G>A uc001kdd.1 + 3 542 c.504G>A c.(502-504)ctG>ctA p.L168L RGR_uc001kdc.1_Silent_p.L164L|RGR_uc001kde.1_Silent_p.L164L NM_002921 NP_002912 P47804 RGR_HUMAN Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA. 164 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 GCTGCACCCTGGACTACTCCA 0.587000 14 12 0 0 0.000308642 0 0 NTN5 126147 broad.mit.edu 37 19 49167500 49167500 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:49167500G>T uc002pkb.3 - 3 966 c.870C>A c.(868-870)acC>acA p.T290T SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Silent_p.T290T NM_145807 NP_665806 Q8WTR8 NET5_HUMAN Homo sapiens netrin 5 (NTN5), mRNA. 290 Laminin EGF-like 3. extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 10 ACTGCCCACTGGTCTGGTTGC 0.652000 10 4 1.23904e-05 0.000174428 0.000602214 1 0 C9 735 broad.mit.edu 37 5 39331858 39331858 + Nonsense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:39331858C>A uc003jlv.4 - 4 624 c.535G>T c.(535-537)Gga>Tga p.G179* NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 179 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TTACAGAGTCCATTGTAGAAC 0.438000 280 55 1.17253e-29 4.6381e-28 0.000781405 1 0 OR13C9 286362 broad.mit.edu 37 9 107380171 107380171 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr9:107380171C>A uc011lvr.2 - 0 315 c.315G>T c.(313-315)ttG>ttT p.L105F NM_001001956 NP_001001956 Q8NGT0 O13C9_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA. 105 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G104S(1) breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 TCCCCATGGCCAAGCCAAGGA 0.502000 55 43 1.15505e-17 3.32713e-16 0.000437636 1 0 MYOC 4653 broad.mit.edu 37 1 171605569 171605569 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:171605569C>A uc001ghu.3 - 2 1033 c.1011G>T c.(1009-1011)caG>caT p.Q337H MYOC_uc010pmk.2_Missense_Mutation_p.Q279H NM_000261 NP_000252 Q99972 MYOC_HUMAN Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA. 337 Olfactomedin-like. Q -> E (in GLC1A).|Q -> R (in GLC1A). anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) ACTCAGCGCCCTGGAAATAGA 0.537000 78 12 1.05317e-09 2.03988e-08 0.000219431 1 0 ALK 238 broad.mit.edu 37 2 29443618 29443618 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:29443618G>A uc002rmy.3 - 22 4551 c.3599C>T c.(3598-3600)gCg>gTg p.A1200V ALK_uc010ymo.2_Missense_Mutation_p.A132V NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 1200 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.A1200V(2) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GTCTCCCCCCGCCATGAGCTC 0.592000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 13 14 0 0 0.000151284 0 0 PSD 5662 broad.mit.edu 37 10 104176550 104176550 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr10:104176550G>T uc001kvg.1 - 1 773 c.246C>A c.(244-246)ccC>ccA p.P82P PSD_uc001kvh.1_Intron|PSD_uc009xxd.1_Silent_p.P82P|PSD_uc001kvi.1_Silent_p.P82P|FBXL15_uc001kvj.1_5'Flank NM_002779 NP_002770 A5PKW4 PSD1_HUMAN Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA. 82 Pro-rich. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) AGGGTGCCCAGGGTGAGGGAG 0.662000 30 24 3.28513e-13 7.72074e-12 0.000586117 1 0 CD37 951 broad.mit.edu 37 19 49843549 49843549 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:49843549G>T uc002pnd.3 + 7 931 c.810G>T c.(808-810)ctG>ctT p.L270L AK097351_uc002pnb.1_5'UTR|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc002pne.3_Silent_p.L202L NM_001774 NP_001035120 P11049 CD37_HUMAN Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA. 270 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 11 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) GCAGAAACCTGGACCACGTCT 0.622000 27 19 6.44725e-10 1.25744e-08 0.000295444 1 0 KIAA1683 80726 broad.mit.edu 37 19 18376007 18376007 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:18376007G>T uc010ebn.2 - 2 2559 c.2343C>A c.(2341-2343)tcC>tcA p.S781S KIAA1683_uc002nin.2_Silent_p.S781S|KIAA1683_uc010xqe.1_Silent_p.S735S NM_001145304 NP_001138776 Q9H0B3 K1683_HUMAN Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA. 781 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AGGCGTGGTTGGACACCTTGG 0.657000 83 42 1.38658e-30 5.64377e-29 0.000781405 1 0 FCGBP 8857 broad.mit.edu 37 19 40412158 40412158 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:40412158G>T uc002omp.4 - 6 3478 c.3470C>A c.(3469-3471)cCa>cAa p.P1157Q NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1157 Cys-rich.|TIL 2. extracellular region protein binding p.L1156R(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCCGGGCACTGGGAGGTCTCC 0.642000 23 13 1.52009e-12 3.44288e-11 0.000308642 1 0 PCDHB4 56131 broad.mit.edu 37 5 140503919 140503919 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:140503919G>T uc003lip.1 + 0 2339 c.2339G>T c.(2338-2340)aGg>aTg p.R780M NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 780 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACACCGGGAGGGAAGTTAAG 0.448000 29 23 1.55469e-16 4.25986e-15 0.00047179 1 0 RAPH1 65059 broad.mit.edu 37 2 204305427 204305427 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:204305427G>T uc002vad.3 - 13 2711 c.2486C>A c.(2485-2487)cCt>cAt p.P829H NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA. 829 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGGAGGGGTAGGGGGAGAGGG 0.587000 21 17 8.60227e-14 2.08271e-12 0.000422831 1 0 ANKDD1A 348094 broad.mit.edu 37 15 65208100 65208100 + Splice_Site SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr15:65208100G>A uc002aoa.3 + 2 167 c.138_splice c.e2+1 p.H46_splice ANKDD1A_uc002anx.1_Splice_Site_p.H46_splice|ANKDD1A_uc002any.3_Splice_Site|ANKDD1A_uc002anz.3_Intron|ANKDD1A_uc002aob.3_Splice_Site_p.H16_splice NM_182703 NP_874362 Q495B1 AKD1A_HUMAN Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA. 46 signal transduction NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2) 21 CAGAAACCACGTGCGTAATGA 0.552000 17 10 0 0 6.40141e-05 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643370 1643370 + Splice_Site SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:1643370G>T uc009ycy.1 - 1 1 c.-86_splice c.e1-1 MOB2_uc001ltq.2_Intron NM_001012709 NP_001012727 Q6L8H1 KRA54_HUMAN Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CAGATGAGATGGAGGTGCAGG 0.617000 39 21 8.10497e-08 1.36304e-06 0.000175454 1 0 CSMD1 64478 broad.mit.edu 37 8 2820092 2820092 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr8:2820092G>A uc022aqr.1 - 60 9914 c.9524C>T c.(9523-9525)tCc>tTc p.S3175F CSMD1_uc011kwj.2_Missense_Mutation_p.S2505F|CSMD1_uc010lrg.3_Missense_Mutation_p.S1067F NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 3176 Sushi 26. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GAAGACTTCGGACTTATAGGT 0.527000 19 13 0 0 0.00010058 0 0 NLRC3 197358 broad.mit.edu 37 16 3614431 3614431 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:3614431C>A uc010btn.3 - 4 918 c.507G>T c.(505-507)aaG>aaT p.K169N NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 169 NACHT. I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GCGAGAAGTCCTTGCCGACCT 0.657000 21 15 3.10358e-05 0.000432576 0.000295444 1 0 HDAC10 83933 broad.mit.edu 37 22 50686860 50686860 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:50686860C>T uc003bkg.3 - 10 1321 c.948G>A c.(946-948)atG>atA p.M316I HDAC10_uc010hav.3_Missense_Mutation_p.M296I|HDAC10_uc003bkh.3_Intron|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_5'UTR NM_032019 NP_114408 Q969S8 HDA10_HUMAN Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA. 316 Histone deacetylase. negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|histone deacetylase complex|nucleus NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 8 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) TCTGTACTGTCATGCACACTG 0.657000 10 27 0 0 0.000409698 0 0 SS18L1 26039 broad.mit.edu 37 20 60737980 60737980 + Silent SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:60737980C>T uc011aaa.1 + 4 604 c.549C>T c.(547-549)tcC>tcT p.S183S SS18L1_uc002ybz.1_Non-coding_Transcript|SS18L1_uc002yca.1_Non-coding_Transcript|SS18L1_uc002ycb.3_Silent_p.S183S|SS18L1_uc002ycc.1_Non-coding_Transcript NM_198935 NP_945173 O75177 CREST_HUMAN Homo sapiens synovial sarcoma translocation gene on chromosome 18-like 1 (SS18L1), mRNA. 183 Methionine-rich intra-molecular domain (By similarity). chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed chromosome kinetochore SS18L1/SSX1(2) ovary(2)|skin(1) 3 Breast(26;3.97e-09) BRCA - Breast invasive adenocarcinoma(19;1.92e-08) ACATGCAGTCCAACCCAGGTA 0.652000 T SSX1 synovial sarcoma 12 13 0 0 0.000151284 0 0 WWP2 11060 broad.mit.edu 37 16 69875994 69875994 + Silent SNP C A A rs150363676 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:69875994C>A uc002exu.1 + 6 635 c.546C>A c.(544-546)ccC>ccA p.P182P WWP2_uc002ext.3_Silent_p.P182P|WWP2_uc002exv.1_Silent_p.P182P|WWP2_uc010vlm.1_Silent_p.P66P NM_007014 NP_008945 O00308 WWP2_HUMAN Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA. 182 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACCAGCCCCCCAGCACAAACT 0.498000 10 10 1.08611e-07 1.79431e-06 6.40141e-05 1 0 STOX2 56977 broad.mit.edu 37 4 184938351 184938351 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:184938351C>A uc003ivz.1 + 3 4130 c.2695C>A c.(2695-2697)Cga>Aga p.R899R AK001394_uc003iwb.1_5'Flank|STOX2_uc003iwa.1_3'UTR NM_020225 NP_064610 Q9P2F5 STOX2_HUMAN Homo sapiens storkhead box 2 (STOX2), mRNA. 899 embryo development|maternal placenta development p.R899*(1) breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) CTTCAACTTCCGAGCGAGCGC 0.547000 7 4 0.00024832 0.00322873 0.00024832 1 0 C12orf43 64897 broad.mit.edu 37 12 121442062 121442063 + Missense_Mutation DNP CC AA AA TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:121442062_121442063CC>AA uc009zxa.1 - 5 798_799 c.775_776GG>TT c.(775-777)ggg>TTg p.G259L C12orf43_uc001tzh.1_Missense_Mutation_p.G228L|C12orf43_uc010szo.1_Missense_Mutation_p.G187L|C12orf43_uc010szp.1_Missense_Mutation_p.G218L|C12orf43_uc001tzi.1_Missense_Mutation_p.G229L NM_022895 NP_075046 Q96C57 CL043_HUMAN Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA. 228 cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CACCTGGTCCCCGTTGAGCTCA 0.559000 531 12 0 0 6.4e-05 0 0 OAS3 4940 broad.mit.edu 37 12 113405891 113405891 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:113405891C>T uc001tug.3 + 13 3103 c.3016C>T c.(3016-3018)Cgc>Tgc p.R1006C NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA. 1006 OAS domain 3. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|RNA binding|nucleotidyltransferase activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 CACCCAGTACCGCCAGCTCTG 0.567000 22 16 0 0 0.000566183 0 0 ZNF616 90317 broad.mit.edu 37 19 52618410 52618410 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:52618410G>T uc002pym.3 - 3 2290 c.2007C>A c.(2005-2007)acC>acA p.T669T ZNF616_uc002pyn.3_Non-coding_Transcript NM_178523 NP_848618 Q08AN1 ZN616_HUMAN Homo sapiens zinc finger protein 616 (ZNF616), mRNA. 669 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) TCCGTTTAAAGGTTTTGCCAC 0.408000 54 35 2.20474e-14 5.45551e-13 0.000692331 1 0 OR51A4 401666 broad.mit.edu 37 11 4967462 4967462 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:4967462G>T uc010qys.2 - 0 869 c.869C>A c.(868-870)cCa>cAa p.P290Q NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATAAACAATTGGGTTCGTCAG 0.423000 110 14 2.32078e-09 4.35982e-08 0.000308642 1 0 KCNB1 3745 broad.mit.edu 37 20 47990039 47990039 + Silent SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr20:47990039G>T uc002xur.1 - 1 2224 c.2058C>A c.(2056-2058)ccC>ccA p.P686P KCNB1_uc002xus.1_Silent_p.P686P NM_004975 NP_004966 Q14721 KCNB1_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA. 686 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.P686A(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TCCCTAGAACGGGGAGGAGTG 0.557000 29 26 2.27525e-19 7.02203e-18 0.000586117 1 0 COL19A1 1310 broad.mit.edu 37 6 70647929 70647929 + Splice_Site SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr6:70647929G>T uc003pfc.1 + 9 991 c.874_splice c.e9-1 p.G292_splice COL19A1_uc010kam.2_Splice_Site_p.G188_splice NM_001858 NP_001849 Q14993 COJA1_HUMAN Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA. 292 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TTTTTGCTCAGGGAGAAGCAG 0.428000 37 22 3.6726e-16 9.91779e-15 0.000586117 1 0 MAP1S 55201 broad.mit.edu 37 19 17838339 17838339 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:17838339G>T uc002nhe.1 + 4 2155 c.2146G>T c.(2146-2148)Ggg>Tgg p.G716W MAP1S_uc010eaz.2_Missense_Mutation_p.G329W|MAP1S_uc010xpv.1_Missense_Mutation_p.G690W NM_018174 NP_060644 Q66K74 MAP1S_HUMAN Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA. 716 Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse DNA binding|actin filament binding|beta-tubulin binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 CAGTGAGGCTGGGCTGAGCCT 0.687000 12 8 1.76689e-08 3.10145e-07 0.000442599 1 0 ZCCHC6 79670 broad.mit.edu 37 9 88916409 88916409 + Missense_Mutation SNP C A A rs76212915 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr9:88916409C>A uc004aou.3 - 25 4340 c.4202G>T c.(4201-4203)aGg>aTg p.R1401M ZCCHC6_uc010mqe.3_Missense_Mutation_p.R301M|ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.R1401M|ZCCHC6_uc004aot.3_Missense_Mutation_p.R1165M|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript NM_001185059 NP_078893 Q5VYS8 TUT7_HUMAN Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA. 1401 RNA 3'-end processing RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 TGACACCTCCCTTTCTGTGTA 0.498000 45 32 5.77227e-19 1.75259e-17 0.000227799 1 0 ZNF514 84874 broad.mit.edu 37 2 95815421 95815421 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr2:95815421C>A uc002sud.1 - 4 1399 c.1028G>T c.(1027-1029)aGc>aTc p.S343I ZNF514_uc002sue.1_Missense_Mutation_p.S270I NM_032788 NP_116177 Q96K75 ZN514_HUMAN Homo sapiens zinc finger protein 514 (ZNF514), mRNA. 270 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 CGAACTCTGGCTGAAGGCTCT 0.428000 27 22 1.50039e-11 3.16831e-10 0.000229342 1 0 DGKQ 1609 broad.mit.edu 37 4 960292 960292 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr4:960292C>T uc003gbw.3 - 11 1464 c.1390G>A c.(1390-1392)Gaa>Aaa p.E464K DGKQ_uc010ibn.3_Missense_Mutation_p.E464K NM_001347 NP_001338 P52824 DGKQ_HUMAN Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA. 464 Ras-associating. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) AGGGGCTGTTCGTCCATCAGC 0.701000 8 26 0 0 0.000184323 0 0 DSG1 1828 broad.mit.edu 37 18 28923508 28923508 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr18:28923508C>T uc002kwp.3 + 11 1995 c.1783C>T c.(1783-1785)Cat>Tat p.H595Y DSG1_uc010xbp.2_5'Flank NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 595 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TGGAGCAATTCATTCATGGGC 0.473000 45 25 0 0 0.000878237 0 0 RP1L1 94137 broad.mit.edu 37 8 10465297 10465297 + Missense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr8:10465297G>T uc003wtc.3 - 3 6540 c.6311C>A c.(6310-6312)cCa>cAa p.P2104Q NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 2104 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TTCTGCCTCTGGGGCCTCTAC 0.617000 68 59 2.17656e-39 9.62655e-38 0.000781405 1 0 CORO1A 11151 broad.mit.edu 37 16 30196587 30196587 + Silent SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:30196587C>A uc010bzq.3 + 2 492 c.57C>A c.(55-57)gcC>gcA p.A19A BOLA2_uc010bzb.1_Intron|CORO1A_uc010vej.2_Silent_p.A19A|CORO1A_uc002dww.3_Silent_p.A19A|CORO1A_uc002dwx.3_5'UTR|CORO1A_uc002dwy.1_5'Flank NM_001193333 NP_009005 P31146 COR1A_HUMAN Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA. 19 cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 9 GACAGCCGGCCAAGGCCGACC 0.582000 36 9 1.12685e-05 0.000161057 0.000274275 1 0 GPSM2 29899 broad.mit.edu 37 1 109441298 109441299 + Missense_Mutation DNP CG AT AT rs148114086 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:109441298_109441299CG>AT uc010ovc.2 + 5 1088_1089 c.592_593CG>AT c.(592-594)cga>ATa p.R198I AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.R198I|GPSM2_uc010ove.1_Missense_Mutation_p.R198I NM_013296 NP_037428 P81274 GPSM2_HUMAN Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA. 198 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3) 14 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) TTTGGGTGACCGAGCGGCACAA 0.416000 442 10 0 0 6.4e-05 0 0 PLIN3 10226 broad.mit.edu 37 19 4839210 4839210 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:4839210C>A uc002mbj.2 - 7 1476 c.1299G>T c.(1297-1299)aaG>aaT p.K433N PLIN3_uc002mbk.2_Missense_Mutation_p.K421N|PLIN3_uc002mbl.3_Missense_Mutation_p.K432N NM_005817 NP_005808 O60664 PLIN3_HUMAN Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA. 433 vesicle-mediated transport Golgi apparatus|endosome membrane|lipid particle protein binding cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 9 Galsulfase(DB01279)|Idursulfase(DB01271) CCCCCTACTTCTTCTCCTCCG 0.567000 27 19 1.96292e-10 3.96609e-09 0.000175454 1 0 PIWIL1 9271 broad.mit.edu 37 12 130831091 130831091 + Nonsense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:130831091G>T uc001uik.3 + 4 764 c.493G>T c.(493-495)Gga>Tga p.G165* PIWIL1_uc001uij.2_Nonsense_Mutation_p.G165* NM_004764 NP_004755 Q96J94 PIWL1_HUMAN Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA. 165 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development P granule|chromatoid body mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) TGCTTTTGATGGAACGATATT 0.388000 26 19 2.21704e-12 4.96139e-11 0.000375601 1 0 SLC8A3 6547 broad.mit.edu 37 14 70634712 70634712 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr14:70634712G>A uc001xly.3 - 1 1182 c.428C>T c.(427-429)tCc>tTc p.S143F SLC8A3_uc001xlw.3_Missense_Mutation_p.S143F|SLC8A3_uc001xlx.3_Missense_Mutation_p.S143F|SLC8A3_uc001xlz.3_Missense_Mutation_p.S143F|SLC8A3_uc010ara.3_Non-coding_Transcript NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 143 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) AGGAGCAGAGGAACCCAGGGC 0.498000 23 11 0 0 0.000151284 0 0 C9orf84 158401 broad.mit.edu 37 9 114470148 114470148 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr9:114470148C>A uc004bfr.3 - 16 2488 c.2353G>T c.(2353-2355)Ggt>Tgt p.G785C C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.G746C|C9orf84_uc010mug.3_Missense_Mutation_p.G696C NM_173521 NP_775792 Q5VXU9 CI084_HUMAN Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA. 785 breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTTAAAACACCTTCAGATTCC 0.323000 158 14 4.3838e-07 6.95588e-06 0.000151284 1 0 EPHB1 2047 broad.mit.edu 37 3 134670531 134670531 + Missense_Mutation SNP C A A rs62270337 TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr3:134670531C>A uc003eqt.3 + 2 817 c.442C>A c.(442-444)Cag>Aag p.Q148K EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.Q148K NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 148 integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 GAGCTTCTCCCAGGTGGACTT 0.502000 73 88 1.11079e-38 4.87447e-37 0.000781405 1 0 DNAH9 1770 broad.mit.edu 37 17 11593391 11593391 + Missense_Mutation SNP G A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr17:11593391G>A uc002gne.3 + 19 4320 c.4252G>A c.(4252-4254)Gat>Aat p.D1418N DNAH9_uc010coo.3_Missense_Mutation_p.D712N NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 1418 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.D1418Y(2) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CCACTATGAGGATGAGGTCCG 0.562000 5 9 0 0 0.000274275 0 0 VAT1L 57687 broad.mit.edu 37 16 77896747 77896747 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr16:77896747C>A uc002ffg.1 + 3 779 c.682C>A c.(682-684)Ctc>Atc p.L228I NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA. 228 oxidoreductase activity|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 TGTGACCCACCTCTTTGACAG 0.473000 69 26 1.42536e-11 3.02122e-10 0.000720815 1 0 KERA 11081 broad.mit.edu 37 12 91449766 91449766 + Missense_Mutation SNP C T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr12:91449766C>T uc001tbl.3 - 1 912 c.293G>A c.(292-294)aGa>aAa p.R98K NM_007035 NP_008966 O60938 KERA_HUMAN Homo sapiens keratocan (KERA), mRNA. 98 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 ATTTATCCATCTTAGCTGGGT 0.363000 47 30 0 0 0.000339439 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142434087 142434087 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:142434087C>A uc011dbj.2 + 14 1404 c.1369C>A c.(1369-1371)Cta>Ata p.L457I ARHGAP26_uc003lmt.3_Missense_Mutation_p.L457I|ARHGAP26_uc003lmw.3_Missense_Mutation_p.L457I NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA. 457 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAAGACCTACCTAAGGTAGGG 0.443000 69 50 1.00776e-21 3.38956e-20 0.000781405 1 0 CDH23 64072 broad.mit.edu 37 10 73559348 73559348 + Nonsense_Mutation SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr10:73559348G>T uc001jrx.4 + 49 7705 c.7315G>T c.(7315-7317)Gga>Tga p.G2439* CDH23_uc001jsg.4_Nonsense_Mutation_p.G202*|CDH23_uc001jsh.4_Nonsense_Mutation_p.G202*|CDH23_uc001jsi.4_Nonsense_Mutation_p.G202* NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 2442 Cadherin 23. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GTACAGCCTTGGAGATGGAGA 0.547000 73 9 1.76689e-08 3.10145e-07 0.000442599 1 0 TRIOBP 11078 broad.mit.edu 37 22 38086703 38086703 + Splice_Site SNP G T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr22:38086703G>T uc003atq.1 + 5 438 c.-596_splice c.e5-1 NOL12_uc011anm.1_Splice_Site_p.G128_splice|NOL12_uc003ato.1_Splice_Site|NOL12_uc003atp.3_Splice_Site_p.G128_splice NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TGCCTCTTTAGGGAGGGGCTG 0.622000 184 17 1.01871e-10 2.10372e-09 0.000132079 1 0 OSMR 9180 broad.mit.edu 37 5 38924539 38924539 + Missense_Mutation SNP C G G TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:38924539C>G uc003jln.2 + 13 2288 c.1886C>G c.(1885-1887)cCt>cGt p.P629R OSMR_uc011cpj.2_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 629 Fibronectin type-III 4. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TCAGACAACCCTCACGTGCTG 0.408000 92 18 0 0 0.000132079 0 0 TATDN1 83940 broad.mit.edu 37 8 125520735 125520735 + Missense_Mutation SNP C A A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr8:125520735C>A uc003yrd.2 - 7 538 c.496G>T c.(496-498)Gat>Tat p.D166Y TATDN1_uc003yre.2_Non-coding_Transcript|TATDN1_uc010mdm.2_Missense_Mutation_p.D119Y NM_032026 NP_001139632 Q6P1N9 TATD1_HUMAN Homo sapiens TatD DNase domain containing 1 (TATDN1), transcript variant 1, mRNA. 166 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) ACACACCGATCTCTATTTCTT 0.308000 28 15 1.02788e-11 2.21212e-10 0.000566183 1 0 C7orf29 113763 broad.mit.edu 37 7 150027647 150027647 + Silent SNP T C C TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr7:150027647T>C uc003wgy.3 + 0 710 c.154T>C c.(154-156)Ttg>Ctg p.L52L LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron NM_138434 NP_612443 Q96FA7 CG029_HUMAN Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA. 52 endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 OV - Ovarian serous cystadenocarcinoma(82;0.011) GGCTGAGGGGTTGGCCCGGCA 0.607000 68 36 0 0 0.000270559 0 0 KIAA0907 22889 broad.mit.edu 37 1 155886422 155886423 + Frame_Shift_Del DEL CT - - TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr1:155886422_155886423delCT uc001fmi.1 - 11 1570_1571 c.1546_1547delAG c.(1546-1548)aggfs p.R516fs KIAA0907_uc001fmj.1_Frame_Shift_Del_p.R516fs|KIAA0907_uc009wrl.1_Non-coding_Transcript NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN Homo sapiens KIAA0907 (KIAA0907), mRNA. 516 p.R516fs*21(2) breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1) 21 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) TTACCTGTCCCTCTCTCTCTCT 0.396 --- 404 --- --- 7 --- AP3B1 8546 broad.mit.edu 37 5 77536740 77536741 + Frame_Shift_Ins INS - T T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr5:77536740_77536741insT uc003kfj.3 - 2 349_350 c.224_225insA c.(223-225)aatfs p.N75fs NM_003664 NP_003655 O00203 AP3B1_HUMAN Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA. 75 endocytosis|melanosome organization Golgi apparatus|clathrin coated vesicle membrane|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) GTTCAGATGCATTTTTCCCTTT 0.297 Hermansky-Pudlak syndrome --- 123 --- --- 93 --- MATN2 4147 broad.mit.edu 37 8 99028877 99028877 + Frame_Shift_Del DEL A - - TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr8:99028877delA uc003yic.3 + 10 1914 c.1683delA c.(1681-1683)ggafs p.G561fs MATN2_uc010mbh.1_Frame_Shift_Del_p.G520fs|MATN2_uc003yid.3_Frame_Shift_Del_p.G561fs|MATN2_uc003yie.1_Frame_Shift_Del_p.G561fs|MATN2_uc010mbi.1_Frame_Shift_Del_p.G394fs NM_002380 NP_002371 O00339 MATN2_HUMAN Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA. 561 EGF-like 8. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) GTGAAGATGGAAAAACCTGCA 0.453 --- 4 --- --- 3 --- ANO1 55107 broad.mit.edu 37 11 69934084 69934084 + Frame_Shift_Del DEL C - - TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr11:69934084delC uc001opj.3 + 1 640 c.335delC c.(334-336)tcgfs p.S112fs ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Frame_Shift_Del_p.S84fs NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA. 112 multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1) 29 GATGCAGGCTCGGGGGAGCCC 0.701 --- 4 --- --- 2 --- SYMPK 8189 broad.mit.edu 37 19 46330795 46330797 + In_Frame_Del DEL GAG - - TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7d1833d8-7e02-4331-97b7-6e2fb956975f a40649f4-7c99-409c-9951-3121476deb04 g.chr19:46330795_46330797delGAG uc002pdn.3 - 15 2397_2399 c.2152_2154delCTC c.(2152-2154)ctcdel p.L718del SYMPK_uc002pdo.1_In_Frame_Del_p.L718del|SYMPK_uc002pdp.1_In_Frame_Del_p.L718del NM_004819 NP_004810 Q92797 SYMPK_HUMAN Homo sapiens symplekin (SYMPK), mRNA. 718 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) AGCTGAGGTCGAGGAGGACATGC 0.581 --- 33 --- --- 8 ---