Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut PTPRK 5796 broad.mit.edu 37 6 128304088 128304088 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:128304088G>A ENST00000368227.3 - 25 3842 c.3476C>T c.(3475-3477)gCc>gTc p.A1159V PTPRK_ENST00000368226.4_Missense_Mutation_p.A1142V|PTPRK_ENST00000368213.5_Missense_Mutation_p.A1148V|PTPRK_ENST00000532331.1_Missense_Mutation_p.A1164V|PTPRK_ENST00000368207.3_Missense_Mutation_p.A1174V|PTPRK_ENST00000368210.3_Missense_Mutation_p.A1160V|PTPRK_ENST00000368215.3_Missense_Mutation_p.A1141V Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1141 cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) ACATAAGCAGGCTTCTAAAAT 0.333000 8 68 0 0 0.003080 0 0 DGKI 9162 broad.mit.edu 37 7 137148266 137148266 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:137148266G>T ENST00000424189.2 - 28 2996 c.2767C>A c.(2767-2769)Ctg>Atg p.L923M DGKI_ENST00000453654.1_Intron|DGKI_ENST00000446122.1_Missense_Mutation_p.L892M|DGKI_ENST00000288490.5_Missense_Mutation_p.L910M O75912 DGKI_HUMAN diacylglycerol kinase, iota 910 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 AGATCTTTCAGATCTGAGTCC 0.522000 21 42 1.01871e-10 1.27646e-10 0.008871 1 0 ELAC2 60528 broad.mit.edu 37 17 12905653 12905653 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:12905653C>A ENST00000338034.4 - 14 1481 c.1242G>T c.(1240-1242)gtG>gtT p.V414V ELAC2_ENST00000395962.2_Silent_p.V395V|ELAC2_ENST00000426905.3_Silent_p.V374V NM_018127.6|NM_173717.1 NP_060597.4|NP_776065.1 Q9BQ52 RNZ2_HUMAN elaC ribonuclease Z 2 414 tRNA processing nucleus endonuclease activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1) 23 GAACCATGGGCACACTGAGGG 0.567000 21 54 1.28384e-07 1.50586e-07 0.001882 1 0 OR10C1 442194 broad.mit.edu 37 6 29407954 29407954 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:29407954C>A ENST00000444197.2 + 1 872 c.162C>A c.(160-162)ctC>ctA p.L54L OR11A1_ENST00000377149.1_Intron NM_013941.3 NP_039229.3 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene) 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 ATGCTGCCCTCCAGTCCCCTA 0.562000 54 92 5.57489e-27 7.83498e-27 0.003610 1 0 PLCE1 51196 broad.mit.edu 37 10 95791986 95791986 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:95791986C>T ENST00000260766.3 + 2 1817 c.1183C>T c.(1183-1185)Ctg>Ttg p.L395L PLCE1_ENST00000371380.2_Silent_p.L395L NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 395 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|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) GAGCCAACGTCTGTCAGAAGC 0.408000 5 37 0 0 0.001168 0 0 CFHR4 10877 broad.mit.edu 37 1 196883745 196883745 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:196883745C>G ENST00000367416.2 + 8 1435 c.1298C>G c.(1297-1299)aCc>aGc p.T433S CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.T187S|CFHR4_ENST00000251424.4_Missense_Mutation_p.T187S NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TATGGAAACACCACAGGTTCC 0.363000 7 43 0 0 0.003080 0 0 NALCN 259232 broad.mit.edu 37 13 101997697 101997697 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:101997697G>T ENST00000251127.6 - 7 800 c.719C>A c.(718-720)cCa>cAa p.P240Q NALCN_ENST00000376196.3_Missense_Mutation_p.P240Q|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 240 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAATCCAGGTGGGCACTGGTA 0.448000 51 42 5.13769e-22 7.03052e-22 0.003610 1 0 GPR137C 283554 broad.mit.edu 37 14 53020234 53020234 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:53020234C>A ENST00000321662.6 + 1 369 c.369C>A c.(367-369)ccC>ccA p.P123P NM_001099652.1 NP_001093122.1 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 123 integral to membrane NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 Breast(41;0.0716) ACTTCTTCCCCCACTGGCTGC 0.672000 12 56 7.03913e-09 8.51243e-09 0.001368 1 0 NLRC5 84166 broad.mit.edu 37 16 57067576 57067576 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:57067576G>A ENST00000436936.1 + 12 2763 c.2538G>A c.(2536-2538)acG>acA p.T846T NLRC5_ENST00000262510.6_Silent_p.T846T|NLRC5_ENST00000539144.1_Silent_p.T846T|NLRC5_ENST00000308149.7_Silent_p.T846T Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 846 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GAAGCTTGACGCTCAGGTACC 0.547000 21 54 0 0 0.002299 0 0 LTK 4058 broad.mit.edu 37 15 41804997 41804997 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:41804997C>T ENST00000263800.6 - 3 363 c.267G>A c.(265-267)gcG>gcA p.A89A LTK_ENST00000453182.2_Silent_p.A89A|LTK_ENST00000561619.1_Intron|LTK_ENST00000355166.5_Silent_p.A89A NM_002344.5 NP_002335.2 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase 89 apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1) 26 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) TCCCCGCGTACGCCCCGTCAC 0.692000 TSP Lung(18;0.14) 5 26 0 0 0.000602 0 0 SCARA5 286133 broad.mit.edu 37 8 27779353 27779353 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:27779353G>A ENST00000354914.3 - 4 1136 c.651C>T c.(649-651)ggC>ggT p.G217G SCARA5_ENST00000524352.1_Silent_p.G217G|SCARA5_ENST00000518030.1_Silent_p.G174G|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Silent_p.G174G NM_173833.5 NP_776194.2 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) 217 cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CCAGCTCCTCGCCCAGGATGC 0.721000 4 3 0 0 0.009096 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855683 79855683 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:79855683C>T ENST00000338682.3 - 5 828 c.156G>A c.(154-156)aaG>aaA p.K52K NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 52 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) CATGTTTGGTCTTACAAGCGA 0.463000 23 143 0 0 0.002299 0 0 IFLTD1 160492 broad.mit.edu 37 12 25672821 25672821 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:25672821C>A ENST00000539744.1 - 7 1112 c.633G>T c.(631-633)caG>caT p.Q211H IFLTD1_ENST00000413632.2_Missense_Mutation_p.Q289H|IFLTD1_ENST00000445693.1_Missense_Mutation_p.Q245H|IFLTD1_ENST00000282881.6_Missense_Mutation_p.Q308H|IFLTD1_ENST00000458174.2_Missense_Mutation_p.Q329H NM_001256266.1 NP_001243195.1 Q8N9Z9 ILFT1_HUMAN intermediate filament tail domain containing 1 308 intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847) CTTGTTCCACCTGATAATTTG 0.388000 6 32 1.06961e-07 1.26409e-07 0.003080 1 0 SRL 6345 broad.mit.edu 37 16 4242554 4242554 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:4242554C>G ENST00000399609.3 - 6 1034 c.1022G>C c.(1021-1023)cGc>cCc p.R341P SRL_ENST00000537996.1_Missense_Mutation_p.R299P NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 800 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity p.R341H(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 GGCGTGGATGCGGACCCGGAT 0.512000 45 138 0 0 0.003610 0 0 CACNB4 785 broad.mit.edu 37 2 152698521 152698521 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:152698521G>A ENST00000360283.6 - 12 1356 c.1099C>T c.(1099-1101)Cgt>Tgt p.R367C CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000397327.2_Missense_Mutation_p.R353C|CACNB4_ENST00000534999.1_Missense_Mutation_p.R366C|CACNB4_ENST00000539935.1_Missense_Mutation_p.R400C|CACNB4_ENST00000427385.1_Missense_Mutation_p.R382C O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 400 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) TGGGTGGCACGCCAGTACGCC 0.493000 25 63 0 0 0.002780 0 0 HERC6 55008 broad.mit.edu 37 4 89326088 89326088 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr4:89326088T>A ENST00000380265.5 + 9 1336 c.1153T>A c.(1153-1155)Tcc>Acc p.S385T HERC6_ENST00000264346.7_Missense_Mutation_p.S385T NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 385 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) AATTAGCCAGTCCATGGCAGA 0.428000 21 45 0 0 0.008871 0 0 XIST 7503 broad.mit.edu 37 X 73064128 73064128 + RNA SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:73064128G>C ENST00000429829.1 - 0 8460 NR_001564.2 AAGGGACATTGTTGTGGTCAA 0.388000 51 43 0 0 0.003610 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329467 88329467 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:88329467G>A ENST00000325089.6 + 2 2043 c.1824G>A c.(1822-1824)tcG>tcA p.S608S SLITRK5_ENST00000400028.3_Silent_p.S367S NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 608 LRRCT 2. integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) CCATTAAGTCGGAGCTGCTGT 0.582000 23 154 0 0 0.002299 0 0 C2 717 broad.mit.edu 37 6 31912989 31912989 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:31912989G>A ENST00000299367.5 + 18 2390 c.2114G>A c.(2113-2115)tGc>tAc p.C705Y C2_ENST00000469372.1_Missense_Mutation_p.C459Y|C2_ENST00000468407.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.C573Y|C2_ENST00000452323.2_Missense_Mutation_p.C491Y|CFB_ENST00000477310.1_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron NM_000063.4 NP_000054.2 complement component 2 haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 27 Ovarian(999;0.00965) LUAD - Lung adenocarcinoma(999;0.247) TACAACCCCTGCCTTGGCTCT 0.592000 8 94 0 0 0.004482 0 0 PRR12 57479 broad.mit.edu 37 19 50098459 50098459 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:50098459C>T ENST00000418929.2 + 4 879 c.867C>T c.(865-867)atC>atT p.I289I NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 19 Pro-rich. DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) ACACGGTCATCAAGCACTACC 0.697000 5 12 0 0 0.000602 0 0 CIDEA 1149 broad.mit.edu 37 18 12262964 12262964 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr18:12262964G>T ENST00000320477.9 + 2 244 c.179G>T c.(178-180)aGc>aTc p.S60I CIDEA_ENST00000521296.1_3'UTR NM_001279.3 NP_001270.1 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a 60 CIDE-N. DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity p.S94I(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 GAGCTCATCAGCAAGGTGCCC 0.642000 8 26 0.00307968 0.00330192 0.003080 1 0 RBBP6 5930 broad.mit.edu 37 16 24567192 24567192 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:24567192G>A ENST00000319715.4 + 6 920 c.488G>A c.(487-489)cGt>cAt p.R163H RBBP6_ENST00000381039.3_Missense_Mutation_p.R163H|RBBP6_ENST00000348022.2_Missense_Mutation_p.R163H NM_006910.4 NP_008841.2 Q7Z6E9 RBBP6_HUMAN retinoblastoma binding protein 6 163 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) ACGTGTTTCCGTTGTGGTAAA 0.358000 10 19 0 0 0.001368 0 0 PDE10A 10846 broad.mit.edu 37 6 165848755 165848755 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:165848755C>A ENST00000366882.1 - 7 631 c.477G>T c.(475-477)agG>agT p.R159S PDE10A_ENST00000354448.4_Missense_Mutation_p.R159S|PDE10A_ENST00000539869.2_Missense_Mutation_p.R169S Q9Y233 PDE10_HUMAN phosphodiesterase 10A 159 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GCAGTGTTTTCCTGGACTTGG 0.458000 11 60 0.000151284 0.000165038 0.001855 1 0 ANKRD16 54522 broad.mit.edu 37 10 5929887 5929887 + Missense_Mutation SNP A A G rs112121948 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:5929887A>G ENST00000380094.5 - 2 1001 c.458T>C c.(457-459)cTc>cCc p.L153P ANKRD16_ENST00000191063.8_Missense_Mutation_p.L153P|ANKRD16_ENST00000380092.4_Missense_Mutation_p.L153P NM_019046.2 NP_061919.1 Q6P6B7 ANR16_HUMAN ankyrin repeat domain 16 153 breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2) 12 CAGGTACTGGAGGATCAGAGG 0.532000 13 54 0 0 0.002450 0 0 DYSF 8291 broad.mit.edu 37 2 71778282 71778282 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:71778282G>A ENST00000258104.3 + 18 1911 c.1634G>A c.(1633-1635)gGc>gAc p.G545D DYSF_ENST00000409762.1_Missense_Mutation_p.G562D|DYSF_ENST00000409651.1_Missense_Mutation_p.G577D|DYSF_ENST00000409366.1_Missense_Mutation_p.G546D|DYSF_ENST00000410020.3_Missense_Mutation_p.G563D|DYSF_ENST00000413539.2_Missense_Mutation_p.G576D|DYSF_ENST00000394120.2_Missense_Mutation_p.G546D|DYSF_ENST00000410041.1_Missense_Mutation_p.G563D|DYSF_ENST00000409582.3_Missense_Mutation_p.G562D|DYSF_ENST00000429174.2_Missense_Mutation_p.G545D|DYSF_ENST00000409744.1_Missense_Mutation_p.G532D NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 545 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 CTCAACACAGGCAAGGTAAGC 0.627000 38 53 0 0 0.004289 0 0 TMTC2 160335 broad.mit.edu 37 12 83250841 83250841 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:83250841A>G ENST00000549919.1 + 3 1923 c.118A>G c.(118-120)Att>Gtt p.I40V TMTC2_ENST00000548305.1_Missense_Mutation_p.I46V|TMTC2_ENST00000321196.3_Missense_Mutation_p.I46V Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 46 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 ATGGACGCACATTTTCTACAA 0.428000 61 117 0 0 0.003610 0 0 ITGAL 3683 broad.mit.edu 37 16 30490651 30490651 + Splice_Site SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:30490651G>A ENST00000356798.6 + 6 625 c.e6-1 RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GGCTTCTGCAGAATGTATCAA 0.473000 23 40 0 0 0.002299 0 0 GPR141 353345 broad.mit.edu 37 7 37780667 37780667 + Missense_Mutation SNP G G T rs145445554 byFrequency TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:37780667G>T ENST00000447769.1 + 4 961 c.672G>T c.(670-672)caG>caT p.Q224H GPR141_ENST00000334425.1_Missense_Mutation_p.Q224H|GPR141_ENST00000461610.1_Intron|EPDR1_ENST00000476620.1_Intron Q7Z602 GP141_HUMAN G protein-coupled receptor 141 224 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCTGGGCTCAGCTGAAAAACC 0.438000 43 110 2.35958e-20 3.17323e-20 0.009718 1 0 FLT1 2321 broad.mit.edu 37 13 28931821 28931821 + Splice_Site SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:28931821T>A ENST00000282397.4 - 15 2369 c.2116_splice c.e15-1 p.G706_splice NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 706 Ig-like C2-type 7. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) CTAAAATAATTCCTGAGGGGT 0.443000 64 50 0 0 0.003610 0 0 SIGMAR1 10280 broad.mit.edu 37 9 34635731 34635731 + Silent SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:34635731G>C ENST00000378892.1 - 3 730 c.303C>G c.(301-303)gtC>gtG p.V101V SIGMAR1_ENST00000477726.1_Silent_p.V159V|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000277010.4_Silent_p.V190V Q99720 SGMR1_HUMAN sigma non-opioid intracellular receptor 1 190 ergosterol biosynthetic process|lipid transport cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane C-8 sterol isomerase activity|drug binding large_intestine(1)|lung(1) 2 Dextromethorphan(DB00514) GGGTGCTGAAGACAGTGTCGG 0.617000 43 35 0 0 0.008740 0 0 CD163L1 283316 broad.mit.edu 37 12 7556294 7556294 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:7556294G>A ENST00000313599.3 - 6 1302 c.1245C>T c.(1243-1245)agC>agT p.S415S CD163L1_ENST00000416109.2_Silent_p.S425S|CD163L1_ENST00000396630.1_Silent_p.S415S Q9NR16 C163B_HUMAN CD163 molecule-like 1 415 SRCR 4. 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 TGCCAAAGACGCTGAACGGAC 0.458000 42 128 0 0 0.007835 0 0 EPHA7 2045 broad.mit.edu 37 6 94068039 94068039 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:94068039G>T ENST00000369303.4 - 4 1107 c.923C>A c.(922-924)tCc>tAc p.S308Y NM_004440.3 NP_004431.1 Q15375 EPHA7_HUMAN EPH receptor A7 308 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity p.S308Y(1) NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TTCACATCTGGAGGAGCCTTC 0.463000 43 41 3.7052e-28 5.23087e-28 0.003214 1 0 SEC14L4 284904 broad.mit.edu 37 22 30887558 30887558 + Splice_Site SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr22:30887558A>G ENST00000392772.2 - 11 1197 c.e11+1 SEC14L4_ENST00000255858.7_Splice_Site|SEC14L4_ENST00000381982.3_Splice_Site|SEC14L4_ENST00000540456.1_Splice_Site Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) CGCAGCTCTTACAGACGCCAG 0.602000 11 62 0 0 0.008291 0 0 SCN8A 6334 broad.mit.edu 37 12 52056869 52056869 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:52056869A>T ENST00000354534.5 + 2 446 c.268A>T c.(268-270)Acg>Tcg p.T90S SCN8A_ENST00000545061.1_Missense_Mutation_p.T90S|SCN8A_ENST00000550891.1_Missense_Mutation_p.T90S NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 90 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ATACTATTTGACGCAGAAAGT 0.527000 51 92 0 0 0.003610 0 0 KCNC2 3747 broad.mit.edu 37 12 75601187 75601187 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:75601187C>G ENST00000549446.1 - 2 1257 c.577G>C c.(577-579)Gag>Cag p.E193Q KCNC2_ENST00000548513.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000298972.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000550433.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000341669.3_Missense_Mutation_p.E193Q|KCNC2_ENST00000393288.2_Missense_Mutation_p.E193Q|KCNC2_ENST00000540018.1_Missense_Mutation_p.E193Q|KCNC2_ENST00000350228.2_Missense_Mutation_p.E193Q NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 193 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 GCCGCGTCCTCGATGCCCAGC 0.721000 4 22 0 0 0.000602 0 0 OPA1 4976 broad.mit.edu 37 3 193332569 193332569 + Silent SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:193332569A>T ENST00000361510.2 + 2 324 c.90A>T c.(88-90)ctA>ctT p.L30L OPA1_ENST00000392438.3_Silent_p.L30L|OPA1_ENST00000361150.2_Silent_p.L30L|OPA1_ENST00000361828.2_Silent_p.L30L|OPA1_ENST00000361715.2_Silent_p.L30L|OPA1_ENST00000361908.3_Silent_p.L30L NM_130837.2 NP_570850.2 O60313 OPA1_HUMAN optic atrophy 1 (autosomal dominant) 30 apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane GTP binding|GTPase activity|magnesium ion binding|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_cancers(143;9.56e-09)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000162) GTTTACCACTACAAAAACTAC 0.388000 47 46 0 0 0.003610 0 0 CCDC92 80212 broad.mit.edu 37 12 124421993 124421993 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:124421993C>T ENST00000545135.1 - 3 3853 c.557G>A c.(556-558)cGc>cAc p.R186H CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Missense_Mutation_p.R203H|CCDC92_ENST00000545891.1_Missense_Mutation_p.R186H Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 203 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) CATGCGGCGGCGAGGCGTTTC 0.612000 33 51 0 0 0.002445 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32921915 32921915 + Nonsense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:32921915G>T ENST00000361627.3 + 8 1779 c.1057G>T c.(1057-1059)Gag>Tag p.E353* ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.E164*|ARHGAP11A_ENST00000567348.1_Nonsense_Mutation_p.E353*|ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.E164*|ARHGAP11A_ENST00000563864.1_Nonsense_Mutation_p.E353* NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 353 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TTTTAACTTTGAGCTGTTGCC 0.353000 11 33 1.08611e-07 1.27874e-07 0.000978 1 0 FLNB 2317 broad.mit.edu 37 3 58109357 58109357 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:58109357G>A ENST00000357272.4 + 21 3829 c.3664G>A c.(3664-3666)Gtg>Atg p.V1222M FLNB_ENST00000348383.5_Missense_Mutation_p.V1222M|FLNB_ENST00000295956.4_Missense_Mutation_p.V1222M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1053M|FLNB_ENST00000490882.1_Missense_Mutation_p.V1222M|FLNB_ENST00000358537.3_Missense_Mutation_p.V1222M|FLNB_ENST00000429972.2_Missense_Mutation_p.V1222M|FLNB_ENST00000419752.2_Missense_Mutation_p.V1053M O75369 FLNB_HUMAN filamin B, beta 1222 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCGGGTCAAGGTGGAGCCCGC 0.517000 16 33 0 0 0.007413 0 0 LRP11 84918 broad.mit.edu 37 6 150184555 150184555 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:150184555G>A ENST00000239367.2 - 1 607 c.602C>T c.(601-603)tCg>tTg p.S201L LRP11_ENST00000546019.1_Intron|RP11-244K5.8_ENST00000596229.1_RNA|LRP11_ENST00000367368.2_Missense_Mutation_p.S201L NM_032832.5 NP_116221.3 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 11 201 integral to membrane receptor activity cervix(1)|kidney(5)|large_intestine(1)|lung(1) 8 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) CTgccggggcgaggcgcgcgc 0.736000 8 15 0 0 0.003080 0 0 LINC00969 440993 broad.mit.edu 37 3 195404651 195404651 + RNA SNP C C G rs1996904 by1000genomes TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:195404651C>G ENST00000445430.1 + 0 1508 TGTCACGAATCTTGACAAATT 0.418000 3 74 0 0 0.001168 0 0 MOB2 81532 broad.mit.edu 37 11 1491670 1491670 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:1491670C>G ENST00000329957.6 - 5 728 c.539G>C c.(538-540)aGa>aCa p.R180T MOB2_ENST00000526462.1_5'UTR NM_001172223.1 NP_001165694.1 Q70IA6 MOB2_HUMAN MOB kinase activator 2 149 nucleus|perinuclear region of cytoplasm metal ion binding breast(1)|kidney(2)|lung(1) 4 GAACAGGTGTCTGCAGATCTT 0.587000 27 54 0 0 0.004656 0 0 JPH4 84502 broad.mit.edu 37 14 24045142 24045142 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:24045142G>A ENST00000397118.3 - 4 1805 c.903C>T c.(901-903)aaC>aaT p.N301N JPH4_ENST00000356300.4_Silent_p.N301N NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 301 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane p.N301K(1) endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) AGCGCAGCCCGTTGGAGCGCT 0.746000 5 25 0 0 0.001984 0 0 BRINP2 57795 broad.mit.edu 37 1 177245369 177245369 + Missense_Mutation SNP C C G rs145109858 byFrequency TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:177245369C>G ENST00000361539.4 + 6 1123 c.811C>G c.(811-813)Cgc>Ggc p.R271G FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 271 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TCTGCGTGAGCGCTTTGTAGC 0.562000 9 61 0 0 0.006214 0 0 ABCB11 8647 broad.mit.edu 37 2 169787239 169787239 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:169787239C>T ENST00000263817.6 - 25 3471 c.3347G>A c.(3346-3348)gGa>gAa p.G1116E NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1116 ABC transporter 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) TTTGCCACATCCACTGCTCCC 0.463000 6 19 0 0 0.003080 0 0 DOCK7 85440 broad.mit.edu 37 1 62943474 62943474 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:62943474C>A ENST00000251157.5 - 43 5531 c.5498G>T c.(5497-5499)cGt>cTt p.R1833L DOCK7_ENST00000340370.5_Missense_Mutation_p.R1813L|DOCK7_ENST00000489185.1_5'UTR NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1844 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 AAAACCAACACGAAAATAGGT 0.363000 30 44 1.71298e-08 2.06351e-08 0.003755 1 0 JMJD1C 221037 broad.mit.edu 37 10 64974163 64974163 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:64974163G>C ENST00000399262.2 - 8 1982 c.1764C>G c.(1762-1764)caC>caG p.H588Q JMJD1C_ENST00000542921.1_Missense_Mutation_p.H406Q|JMJD1C_ENST00000399251.1_Missense_Mutation_p.H369Q|JMJD1C_ENST00000402544.1_Missense_Mutation_p.H369Q NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 588 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) CCATGTTCAAGTGATCATTTC 0.393000 5 35 0 0 0.000602 0 0 FGF5 2250 broad.mit.edu 37 4 81196135 81196135 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr4:81196135C>G ENST00000312465.7 + 2 654 c.428C>G c.(427-429)gCg>gGg p.A143G FGF5_ENST00000456523.3_Intron|FGF5_ENST00000503413.1_3'UTR NM_004464.3 NP_004455.2 P12034 FGF5_HUMAN fibroblast growth factor 5 143 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 AAATTTTTAGCGATGTCAAAA 0.318000 6 14 0 0 0.001168 0 0 BUB1 699 broad.mit.edu 37 2 111416240 111416240 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:111416240C>T ENST00000535254.1 - 11 1363 c.1296G>A c.(1294-1296)acG>acA p.T432T BUB1_ENST00000409311.1_Silent_p.T452T|BUB1_ENST00000302759.6_Silent_p.T452T NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 452 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity p.T452T(1) breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) CTTTGGATGGCGTTGCCTGAA 0.433000 17 34 0 0 0.004990 0 0 IRS2 8660 broad.mit.edu 37 13 110436062 110436062 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:110436062G>A ENST00000375856.3 - 1 2853 c.2339C>T c.(2338-2340)cCg>cTg p.P780L NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 780 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) GAAGTCGGGCGGGGTGCCCGT 0.692000 7 3 0 0 0.003080 0 0 ARHGEF26 26084 broad.mit.edu 37 3 153840415 153840415 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:153840415G>A ENST00000356448.4 + 2 918 c.634G>A c.(634-636)Gaa>Aaa p.E212K ARHGEF26_ENST00000465817.1_Missense_Mutation_p.E212K|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.E212K NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 212 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 AAGTTCTTCGGAACAAAAACT 0.587000 59 50 0 0 0.003610 0 0 CXCL1 2919 broad.mit.edu 37 4 74735491 74735491 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr4:74735491G>A ENST00000395761.3 + 2 273 c.206G>A c.(205-207)tGc>tAc p.C69Y CXCL1_ENST00000509101.1_3'UTR NM_001511.3 NP_001502.1 P09341 GROA_HUMAN chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) 69 actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development extracellular space|intracellular chemokine activity|enzyme activator activity|growth factor activity lung(2) 2 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GGACCCCACTGCGCCCAAACC 0.652000 65 101 0 0 0.003610 0 0 ZNF665 79788 broad.mit.edu 37 19 53668172 53668172 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:53668172C>A ENST00000600412.1 - 2 1491 c.1376G>T c.(1375-1377)aGt>aTt p.S459I ZNF665_ENST00000396424.3_Missense_Mutation_p.S524I Q9H7R5 ZN665_HUMAN zinc finger protein 665 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TGAATGAACACTAAAGGCTTT 0.393000 47 121 1.6237e-14 2.11964e-14 0.003214 1 0 PCLO 27445 broad.mit.edu 37 7 82586052 82586052 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:82586052G>T ENST00000423517.2 - 5 4554 c.4217C>A c.(4216-4218)cCc>cAc p.P1406H PCLO_ENST00000333891.8_Missense_Mutation_p.P1406H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1337 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 CAAATCTGAGGGGCTGGAAGG 0.398000 16 59 1.02788e-11 1.30366e-11 0.004990 1 0 ARMC4 55130 broad.mit.edu 37 10 28151364 28151364 + Splice_Site SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:28151364G>C ENST00000305242.5 - 18 2890 c.2799_splice c.e18+1 p.T933_splice ARMC4_ENST00000537576.1_Splice_Site_p.T625_splice|ARMC4_ENST00000545014.1_Splice_Site_p.T458_splice NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 933 binding p.T933K(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GTTACTTACTGTATTTGCCAG 0.358000 16 36 0 0 0.003163 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973549 46973549 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:46973549C>T ENST00000313683.10 - 2 1049 c.744G>A c.(742-744)aaG>aaA p.K248K PNMAL1_ENST00000438932.2_Silent_p.K248K|PNMAL1_ENST00000602246.1_Intron NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 248 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GCCTGGAGTTCTTCTTCTGCT 0.522000 20 142 0 0 0.007413 0 0 NRXN1 9378 broad.mit.edu 37 2 51255050 51255050 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:51255050C>A ENST00000404971.1 - 2 1701 c.362G>T c.(361-363)cGc>cTc p.R121L NRXN1_ENST00000401669.2_Missense_Mutation_p.R121L|NRXN1_ENST00000405581.1_Missense_Mutation_p.R121L|NRXN1_ENST00000402717.3_Missense_Mutation_p.R121L|NRXN1_ENST00000405472.3_Missense_Mutation_p.R121L|NRXN1_ENST00000406859.3_Missense_Mutation_p.R121L|NRXN1_ENST00000406316.2_Missense_Mutation_p.R121L NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 121 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCGGAACTGGCGGCGGATGCG 0.647000 22 33 2.37509e-13 3.037e-13 0.010504 1 0 ZNF230 7773 broad.mit.edu 37 19 44515025 44515025 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:44515025G>A ENST00000429154.2 + 5 1062 c.834G>A c.(832-834)aaG>aaA p.K278K NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) CTGGGGAGAAGCCGTTCAAAT 0.423000 21 94 0 0 0.008871 0 0 FAT3 120114 broad.mit.edu 37 11 92523307 92523307 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:92523307G>T ENST00000298047.6 + 7 4551 c.4534G>T c.(4534-4536)Gac>Tac p.D1512Y FAT3_ENST00000409404.2_Missense_Mutation_p.D1512Y|FAT3_ENST00000525166.1_Missense_Mutation_p.D1362Y Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1512 Cadherin 14. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATTCCGGATTGACCCTAGCAC 0.488000 TCGA Ovarian(4;0.039) 20 107 2.37509e-13 3.037e-13 0.010504 1 0 PAX2 5076 broad.mit.edu 37 10 102584502 102584502 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:102584502G>A ENST00000370296.2 + 9 1636 c.1086G>A c.(1084-1086)gtG>gtA p.V362V PAX2_ENST00000428433.1_Silent_p.V362V|PAX2_ENST00000361791.3_Silent_p.V339V|PAX2_ENST00000355243.3_Silent_p.V339V|PAX2_ENST00000556085.1_Silent_p.V338V Q02962 PAX2_HUMAN paired box 2 362 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) CAGGAATGGTGCCTGGTAGGT 0.617000 21 99 0 0 0.010504 0 0 GRM1 2911 broad.mit.edu 37 6 146720389 146720389 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:146720389T>A ENST00000392299.2 + 8 2684 c.2214T>A c.(2212-2214)agT>agA p.S738R GRM1_ENST00000492807.2_Missense_Mutation_p.S738R|GRM1_ENST00000507907.1_Missense_Mutation_p.S738R|GRM1_ENST00000361719.2_Missense_Mutation_p.S738R|GRM1_ENST00000282753.1_Missense_Mutation_p.S738R|GRM1_ENST00000355289.4_Missense_Mutation_p.S738R Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 738 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCTACCCAAGTATCAAGGAAG 0.493000 46 70 0 0 0.002852 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741362 140741362 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:140741362G>C ENST00000522605.1 + 1 1660 c.1660G>C c.(1660-1662)Gac>Cac p.D554H PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTAGTGGGCGACCTCAATGA 0.687000 41 58 0 0 0.009718 0 0 OVCH1 341350 broad.mit.edu 37 12 29597152 29597152 + Silent SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:29597152A>G ENST00000318184.5 - 24 2942 c.2943T>C c.(2941-2943)ccT>ccC p.P981P OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 981 proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CATCCTCACAAGGGACCAAGT 0.403000 3 178 0 0 0.004672 0 0 EBAG9 9166 broad.mit.edu 37 8 110575714 110575714 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:110575714A>G ENST00000531677.1 + 6 610 c.610A>G c.(610-612)Ata>Gta p.I204V EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron O00559 RCAS1_HUMAN estrogen receptor binding site associated, antigen, 9 174 apoptosis|regulation of cell growth focal adhesion|Golgi membrane|integral to membrane|soluble fraction apoptotic protease activator activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2) 10 OV - Ovarian serous cystadenocarcinoma(57;1.39e-14) ATCAGTAAAGATAGAGAGAGT 0.408000 56 263 0 0 0.003610 0 0 MYH3 4621 broad.mit.edu 37 17 10535187 10535187 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:10535187T>A ENST00000583535.1 - 35 5190 c.5103A>T c.(5101-5103)aaA>aaT p.K1701N MYH3_ENST00000226209.7_Missense_Mutation_p.K1701N NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 1701 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 GTTCCGCCAGTTTCCGGGCCC 0.637000 10 61 0 0 0.008291 0 0 DCC 1630 broad.mit.edu 37 18 50450075 50450075 + Splice_Site SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr18:50450075A>G ENST00000442544.2 + 4 1313 c.e4-1 DCC_ENST00000412726.1_Splice_Site NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TTCCCCTCATAGATCCAGGAC 0.343000 14 18 0 0 0.004990 0 0 AXDND1 126859 broad.mit.edu 37 1 179363133 179363133 + Nonsense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:179363133T>A ENST00000367618.3 + 10 1346 c.959T>A c.(958-960)tTa>tAa p.L320* AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Nonsense_Mutation_p.L320* NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 320 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 CAGCGCATTTTAGAAGAATTG 0.373000 22 52 0 0 0.002299 0 0 ATR 545 broad.mit.edu 37 3 142242944 142242944 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:142242944G>A ENST00000350721.4 - 22 4164 c.4043C>T c.(4042-4044)tCt>tTt p.S1348F ATR_ENST00000383101.3_Missense_Mutation_p.S1284F NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 1348 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 CCGAGCTTGAGAGTTTGCATC 0.413000 Other conserved DNA damage response genes 7 63 0 0 0.003080 0 0 MYEOV 26579 broad.mit.edu 37 11 69063820 69063820 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:69063820C>A ENST00000535407.1 + 2 1372 c.729C>A c.(727-729)caC>caA p.H243Q MYEOV_ENST00000441339.2_Missense_Mutation_p.H301Q|MYEOV_ENST00000308946.3_Missense_Mutation_p.H301Q Q96EZ4 MYEOV_HUMAN myeloma overexpressed 301 endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) tcctccaccacctcctcctcc 0.587000 19 8 0.00074312 0.000802261 0.006122 1 0 SEMA3E 9723 broad.mit.edu 37 7 82996904 82996904 + Nonstop_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:82996904A>G ENST00000307792.3 - 17 2793 c.2326T>C c.(2326-2328)Tga>Cga p.*776R SEMA3E_ENST00000427262.1_Nonstop_Mutation_p.*716R NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 0 axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TCACCCCATCAGGAGTCCAGC 0.408000 5 244 0 0 0.000602 0 0 MAP2K5 5607 broad.mit.edu 37 15 67873104 67873104 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:67873104G>T ENST00000178640.5 + 4 892 c.265G>T c.(265-267)Gta>Tta p.V89L MAP2K5_ENST00000354498.5_Missense_Mutation_p.V53L|MAP2K5_ENST00000395476.2_Missense_Mutation_p.V89L|MAP2K5_ENST00000560591.1_3'UTR NM_145160.2 NP_660143.1 Q13163 MP2K5_HUMAN mitogen-activated protein kinase kinase 5 89 OPR. nerve growth factor receptor signaling pathway ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1) 16 TTATTCCACAGTAATGGAACA 0.333000 22 54 4.47668e-21 6.07271e-21 0.003954 1 0 MCTP1 79772 broad.mit.edu 37 5 94288963 94288963 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:94288963C>G ENST00000515393.1 - 3 940 c.941G>C c.(940-942)tGt>tCt p.C314S MCTP1_ENST00000312216.8_Missense_Mutation_p.C93S|MCTP1_ENST00000429576.2_Missense_Mutation_p.C93S|MCTP1_ENST00000505208.1_Missense_Mutation_p.C93S NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 314 C2 1. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) AACCAGAATACAAGCTTTTTC 0.368000 6 21 0 0 0.001984 0 0 PON3 5446 broad.mit.edu 37 7 94996731 94996731 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:94996731T>C ENST00000265627.5 - 5 447 c.437A>G c.(436-438)gAg>gGg p.E146G PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.E146G NM_000940.2 NP_000931.1 paraoxonase 3 breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 24 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0151) TTGTTGTTCCTCAAATTTAAA 0.348000 3 132 0 0 0.004672 0 0 GBF1 8729 broad.mit.edu 37 10 104018750 104018750 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:104018750G>A ENST00000369983.3 + 2 315 c.55G>A c.(55-57)Gcc>Acc p.A19T NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 19 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TGTGGTTGGGGCCATCAAACG 0.408000 19 138 0 0 0.010504 0 0 E4F1 1877 broad.mit.edu 37 16 2273689 2273689 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:2273689G>A ENST00000301727.4 + 1 123 c.75G>A c.(73-75)gcG>gcA p.A25A E4F1_ENST00000565090.1_Silent_p.A25A|E4F1_ENST00000564139.1_Silent_p.A25A NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 25 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GGCGGGAAGCGGGCGAGGGTG 0.741000 4 18 0 0 0.009096 0 0 PNMA3 29944 broad.mit.edu 37 X 152226119 152226119 + Nonsense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:152226119T>A ENST00000447306.1 + 2 1043 c.707T>A c.(706-708)tTg>tAg p.L236* PNMA3_ENST00000370265.4_Nonsense_Mutation_p.L236*|PNMA3_ENST00000370264.4_Nonsense_Mutation_p.L236* NM_013364.4 NP_037496.3 Q9UL41 PNMA3_HUMAN paraneoplastic Ma antigen 3 236 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) ctggctgccttgcagcaggtg 0.552000 52 48 0 0 0.003610 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46051295 46051295 + Splice_Site SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:46051295A>G ENST00000536708.2 + 4 368 c.e4-1 CDK5RAP3_ENST00000338399.4_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA NM_001278197.1 NP_001265126.1 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 18 CTTGCTTTCTAGACATTCACT 0.443000 35 115 0 0 0.006230 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48202269 48202269 + Nonsense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:48202269C>T ENST00000396720.3 + 13 3639 c.3445C>T c.(3445-3447)Cag>Tag p.Q1149* CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1149 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GAAACGCACCCAGGCCATGCT 0.632000 OREG0025594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 7 0 0 0.004672 0 0 POGLUT1 56983 broad.mit.edu 37 3 119210421 119210421 + Splice_Site SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:119210421G>C ENST00000295588.4 + 10 1106 c.1022_splice c.e10+1 p.R341_splice NM_152305.2 NP_689518.1 Q8NBL1 PGLT1_HUMAN protein O-glucosyltransferase 1 341 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 ATTGCTGAAAGGTGAGTTCTG 0.343000 3 15 0 0 0.009096 0 0 RIN3 79890 broad.mit.edu 37 14 93118018 93118018 + Silent SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:93118018C>G ENST00000216487.7 + 6 783 c.624C>G c.(622-624)tcC>tcG p.S208S RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 208 endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CCCTAGTCTCCAGCCTCAGGC 0.572000 17 65 0 0 0.004990 0 0 NPHP3 27031 broad.mit.edu 37 3 132435712 132435712 + Missense_Mutation SNP C C T rs147399998 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:132435712C>T ENST00000326682.8 - 4 788 c.712G>A c.(712-714)Gga>Aga p.G238R NPHP3_ENST00000337331.5_Missense_Mutation_p.G238R Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 238 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GGTTCACTTCCCAAGGCTCCG 0.448000 6 38 0 0 0.001984 0 0 CC2D2B 387707 broad.mit.edu 37 10 97769618 97769618 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:97769618A>G ENST00000371198.2 + 12 1371 c.331A>G c.(331-333)Ata>Gta p.I111V CC2D2B_ENST00000410012.2_Missense_Mutation_p.I20V|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|CC2D2B_ENST00000344386.3_Missense_Mutation_p.I20V|ENTPD1-AS1_ENST00000451364.1_RNA Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 20 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) TCACTCATATATAAGAAAGAA 0.318000 4 30 0 0 0.000602 0 0 LHCGR 3973 broad.mit.edu 37 2 48936097 48936097 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:48936097G>T ENST00000294954.7 - 8 691 c.670C>A c.(670-672)Ccg>Acg p.P224T STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Missense_Mutation_p.P224T|LHCGR_ENST00000405626.1_Missense_Mutation_p.P224T|LHCGR_ENST00000401907.1_Missense_Mutation_p.P224T|LHCGR_ENST00000344775.3_Missense_Mutation_p.P224T NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 224 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AAGGTTTTCGGCCCTGTGGCC 0.542000 32 149 6.02846e-25 8.43443e-25 0.003271 1 0 HCCAT5 283902 broad.mit.edu 37 16 73127500 73127500 + RNA SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:73127500G>C ENST00000569990.2 + 0 906 NR_027756.1 GTCGTCTCCTGCAAACAGACA 0.537000 4 8 0 0 0.009096 0 0 MBD6 114785 broad.mit.edu 37 12 57918502 57918502 + Splice_Site SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:57918502G>A ENST00000355673.3 + 4 469 c.e4-1 MBD6_ENST00000431731.2_Splice_Site|MBD6_ENST00000549231.1_3'UTR NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 TCCTCTCGCAGTCCAAGTGGC 0.542000 39 47 0 0 0.004878 0 0 METTL17 64745 broad.mit.edu 37 14 21464756 21464756 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:21464756G>A ENST00000339374.6 + 13 1384 c.1151G>A c.(1150-1152)cGc>cAc p.R384H RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.R384H|METTL17_ENST00000382985.4_Missense_Mutation_p.R384H NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 384 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 GAGGCTCATCGCTGGCCCCGT 0.512000 16 28 0 0 0.003163 0 0 FAT3 120114 broad.mit.edu 37 11 92088310 92088310 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:92088310G>T ENST00000298047.6 + 1 3049 c.3032G>T c.(3031-3033)cGg>cTg p.R1011L FAT3_ENST00000409404.2_Missense_Mutation_p.R1011L|FAT3_ENST00000525166.1_Missense_Mutation_p.R861L|FAT3_ENST00000541502.1_Missense_Mutation_p.R1011L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1011 Cadherin 9. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTTACTGTGCGGGCCAAAGAC 0.453000 TCGA Ovarian(4;0.039) 12 24 5.50884e-06 6.2049e-06 0.001368 1 0 ADAMTSL3 57188 broad.mit.edu 37 15 84506852 84506852 + Nonsense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:84506852C>A ENST00000286744.5 + 7 836 c.612C>A c.(610-612)tgC>tgA p.C204* ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.C204* NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 204 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) CAGTGGGCTGCGATCGGCAAC 0.567000 15 62 3.27435e-08 3.91417e-08 0.002450 1 0 EDARADD 128178 broad.mit.edu 37 1 236590709 236590709 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:236590709A>G ENST00000359362.5 + 4 362 c.148A>G c.(148-150)Att>Gtt p.I50V EDARADD_ENST00000334232.4_Missense_Mutation_p.I60V NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 60 cell differentiation|signal transduction cytoplasm endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ATGTGATACAATTACTTTGAA 0.299000 3 8 0 0 0.004672 0 0 KLHL12 59349 broad.mit.edu 37 1 202887471 202887471 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:202887471G>A ENST00000367261.3 - 4 613 c.395C>T c.(394-396)cCt>cTt p.P132L KLHL12_ENST00000435533.3_Missense_Mutation_p.P170L NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 132 Wnt receptor signaling pathway protein binding NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) GCAATTAGAAGGGTCCAACTG 0.448000 12 57 0 0 0.000978 0 0 FAM86A 196483 broad.mit.edu 37 16 5143491 5143491 + Silent SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:5143491G>T ENST00000427587.4 - 3 302 c.234C>A c.(232-234)atC>atA p.I78I FAM86A_ENST00000587133.1_Intron|FAM86A_ENST00000458008.4_Silent_p.I78I NM_201400.2 NP_958802.1 Q96G04 FA86A_HUMAN family with sequence similarity 86, member A 78 endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2) 12 TGACCTTTTTGATGAGTTCTG 0.577000 9 43 2.74318e-10 3.42349e-10 0.006214 1 0 NUP205 23165 broad.mit.edu 37 7 135304382 135304382 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:135304382G>T ENST00000285968.6 + 29 4201 c.4175G>T c.(4174-4176)gGa>gTa p.G1392V NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 1392 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 GCTTCTATTGGAGATTCTTCA 0.363000 7 27 8.12818e-05 8.89822e-05 0.001984 1 0 SDK2 54549 broad.mit.edu 37 17 71390387 71390387 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:71390387G>A ENST00000392650.3 - 26 3669 c.3669C>T c.(3667-3669)gtC>gtT p.V1223V SDK2_ENST00000388726.3_Silent_p.V1223V NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 1223 Fibronectin type-III 7. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CAGCCTCGGGGACCTCGCTCC 0.652000 5 19 0 0 0.000602 0 0 WASF1 8936 broad.mit.edu 37 6 110421760 110421760 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:110421760C>T ENST00000392589.1 - 11 2481 c.1645G>A c.(1645-1647)Gat>Aat p.D549N WASF1_ENST00000392586.1_Missense_Mutation_p.D549N|WASF1_ENST00000392587.2_Missense_Mutation_p.D549N|WASF1_ENST00000392588.1_Missense_Mutation_p.D549N|WASF1_ENST00000359451.2_Missense_Mutation_p.D549N NM_003931.2 NP_003922.1 Q92558 WASF1_HUMAN WAS protein family, member 1 549 actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) AATTCTGAATCATCTTCCGAA 0.393000 11 22 0 0 0.001368 0 0 RNF133 168433 broad.mit.edu 37 7 122338423 122338423 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:122338423T>C ENST00000340112.2 - 1 787 c.550A>G c.(550-552)Atc>Gtc p.I184V CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 184 endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 21 ATCCAGATGATGTGCTTTCTC 0.378000 28 73 0 0 0.004656 0 0 N6AMT2 221143 broad.mit.edu 37 13 21311925 21311925 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:21311925T>C ENST00000382758.1 - 3 211 c.164A>G c.(163-165)tAt>tGt p.Y55C N6AMT2_ENST00000382754.4_Missense_Mutation_p.Y55C Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 (putative) 55 methyltransferase activity|nucleic acid binding endometrium(1)|large_intestine(3)|lung(3) 7 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) TTCCTGACTATACCAAAACTG 0.393000 13 16 0 0 0.004007 0 0 CNTN1 1272 broad.mit.edu 37 12 41312540 41312540 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:41312540G>T ENST00000551295.2 + 4 311 c.194G>T c.(193-195)tGt>tTt p.C65F CNTN1_ENST00000360099.3_Missense_Mutation_p.C65F|CNTN1_ENST00000547849.1_Missense_Mutation_p.C65F|CNTN1_ENST00000347616.1_Missense_Mutation_p.C65F|CNTN1_ENST00000348761.2_Missense_Mutation_p.C54F|CNTN1_ENST00000547702.1_Missense_Mutation_p.C65F NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 65 Ig-like C2-type 1. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TCACTCAACTGTAGGGCACGA 0.438000 8 60 3.09899e-07 3.62129e-07 0.004482 1 0 MYH15 22989 broad.mit.edu 37 3 108163738 108163738 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:108163738C>A ENST00000273353.3 - 23 2520 c.2464G>T c.(2464-2466)Gca>Tca p.A822S NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 822 IQ. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 AAAATAAGTGCATCCCTAAAT 0.373000 18 28 1.2644e-06 1.45035e-06 0.010504 1 0 NRK 203447 broad.mit.edu 37 X 105178437 105178437 + Splice_Site SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:105178437G>T ENST00000428173.2 + 20 3805 c.e20+1 NRK_ENST00000243300.9_Splice_Site Q7Z2Y5 NRK_HUMAN Nik related kinase ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 AGTGCCATCTGTGAGTGTGTT 0.368000 HNSCC(51;0.14) 29 20 2.85442e-18 3.80589e-18 0.002096 1 0 AHNAK 79026 broad.mit.edu 37 11 62293536 62293536 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:62293536C>A ENST00000378024.4 - 5 8627 c.8353G>T c.(8353-8355)Gat>Tat p.D2785Y AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2785 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) ACGTCCACATCTGGACCTTCT 0.498000 66 135 1.31726e-23 1.8266e-23 0.003610 1 0 ZNF281 23528 broad.mit.edu 37 1 200378334 200378334 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:200378334T>A ENST00000294740.2 - 2 624 c.500A>T c.(499-501)gAa>gTa p.E167V ZNF281_ENST00000367353.1_Missense_Mutation_p.E167V|ZNF281_ENST00000367352.3_Missense_Mutation_p.E131V NM_012482.3 NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 167 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 ACTCCCCCCTTCACCGCCTCC 0.607000 10 67 0 0 0.008291 0 0 THBS1 7057 broad.mit.edu 37 15 39886511 39886511 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:39886511G>T ENST00000260356.5 + 21 3540 c.3375G>T c.(3373-3375)atG>atT p.M1125I NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 1125 TSP C-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GAGTGGTGATGTATGAAGGGA 0.388000 23 40 1.87028e-06 2.12192e-06 0.001882 1 0 IL9R 3581 broad.mit.edu 37 X 155233507 155233507 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:155233507G>T ENST00000369423.2 + 5 592 c.554G>T c.(553-555)tGc>tTc p.C185F IL9R_ENST00000424344.3_Silent_p.L119L|IL9R_ENST00000244174.5_Silent_p.L140L|IL9R_ENST00000540897.1_Missense_Mutation_p.C175F Q01113 IL9R_HUMAN interleukin 9 receptor 149 Fibronectin type-III. cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CGGAGTACCTGCCCCGGAGAC 0.622000 13 24 1.05317e-09 1.28858e-09 0.002450 1 0 IGHV4-59 28392 broad.mit.edu 37 14 107083284 107083284 + RNA SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:107083284G>C ENST00000455737.1 - 0 359 GGCCGTGTCCGCAGCGGTCAC 0.592000 57 109 0 0 0.003610 0 0 PRRC2C 23215 broad.mit.edu 37 1 171505303 171505303 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:171505303C>T ENST00000367742.3 + 14 2421 c.2179C>T c.(2179-2181)Cct>Tct p.P727S PRRC2C_ENST00000426496.2_Missense_Mutation_p.P725S|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P725S|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P727S Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 725 Pro-rich. protein C-terminus binding GCAGCCTCATCCTCAGCATTT 0.493000 6 15 0 0 0.001168 0 0 OR52E2 119678 broad.mit.edu 37 11 5080588 5080588 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:5080588G>T ENST00000321522.2 - 1 269 c.270C>A c.(268-270)aaC>aaA p.N90K NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.N90K(1)|p.N90_L91>KI(1) endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TCCCTCTGAGGTTGATCCAGA 0.483000 15 25 2.31682e-05 2.56329e-05 0.003163 1 0 SAMSN1 64092 broad.mit.edu 37 21 15870786 15870786 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr21:15870786G>A ENST00000285670.2 - 8 1274 c.1100C>T c.(1099-1101)gCt>gTt p.A367V SAMSN1_ENST00000463807.1_5'UTR|SAMSN1_ENST00000400564.1_Missense_Mutation_p.A131V|SAMSN1_ENST00000400566.1_Missense_Mutation_p.A299V NM_001256370.1 NP_001243299.1 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization signals 1 299 negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) GAAGTTTTCAGCAGCTGATAG 0.338000 12 33 0 0 0.001855 0 0 SCN2A 6326 broad.mit.edu 37 2 166172118 166172118 + Silent SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:166172118A>G ENST00000375437.2 + 11 1811 c.1521A>G c.(1519-1521)aaA>aaG p.K507K SCN2A_ENST00000375427.2_Silent_p.K507K|SCN2A_ENST00000357398.3_Silent_p.K507K|SCN2A_ENST00000283256.6_Silent_p.K507K NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 507 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) gaagaaagaaaaagaaacaga 0.388000 14 29 0 0 0.001855 0 0 SPTBN4 57731 broad.mit.edu 37 19 41062929 41062929 + Splice_Site SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:41062929G>T ENST00000352632.3 + 26 5376 c.5289_splice c.e26-1 p.V1764_splice SPTBN4_ENST00000338932.3_Splice_Site_p.V1764_splice|SPTBN4_ENST00000595535.1_Splice_Site_p.V1764_splice|SPTBN4_ENST00000392025.1_Splice_Site_p.V507_splice|SPTBN4_ENST00000598249.1_Splice_Site_p.V1764_splice|SPTBN4_ENST00000392023.1_Splice_Site_p.V440_splice Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1764 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTGATGGCAGGTGCTGCAGGA 0.547000 8 31 1.12685e-05 1.26013e-05 0.004482 1 0 KRT28 162605 broad.mit.edu 37 17 38948796 38948796 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:38948796C>A ENST00000306658.7 - 8 1343 c.1278G>T c.(1276-1278)aaG>aaT p.K426N NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 426 Tail. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) CAACCACTGTCTTTACCAGTG 0.348000 10 25 3.86212e-05 4.24289e-05 0.008291 1 0 C6orf118 168090 broad.mit.edu 37 6 165715503 165715503 + Missense_Mutation SNP G G T rs149637046 byFrequency TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:165715503G>T ENST00000230301.8 - 2 328 c.308C>A c.(307-309)gCg>gAg p.A103E C6orf118_ENST00000543069.1_5'UTR NM_144980.3 NP_659417.2 Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 103 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CTTCATCCTCGCCACCTTCCC 0.682000 43 49 6.2361e-21 8.42279e-21 0.007835 1 0 MEF2B 100271849 broad.mit.edu 37 19 19258514 19258514 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:19258514C>A ENST00000602424.2 - 6 1112 c.386G>T c.(385-387)cGg>cTg p.R129L MEF2B_ENST00000424583.2_Missense_Mutation_p.R129L|MEF2B_ENST00000409447.2_Missense_Mutation_p.R129L|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.R146L|MEF2B_ENST00000162023.5_Missense_Mutation_p.R129L|MEF2B_ENST00000409224.1_Missense_Mutation_p.R132L|MEF2B_ENST00000410050.1_Missense_Mutation_p.R129L|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.R129L NM_005919.3 NP_005910.1 myocyte enhancer factor 2B breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412) TACATACAGCCGGGGTCGGGG 0.617000 19 45 8.34094e-07 9.60285e-07 0.008871 1 0 ANO4 121601 broad.mit.edu 37 12 101381432 101381432 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:101381432C>A ENST00000392979.3 + 7 974 c.613C>A c.(613-615)Cag>Aag p.Q205K ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.Q240K|ANO4_ENST00000538618.1_3'UTR NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 240 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CCCTTTCAGCCAGCAAAGGAT 0.527000 HNSCC(74;0.22) OREG0022059 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 142 8.16721e-17 1.08433e-16 0.002096 1 0 FMN2 56776 broad.mit.edu 37 1 240492727 240492727 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:240492727T>A ENST00000319653.9 + 10 4626 c.4396T>A c.(4396-4398)Tca>Aca p.S1466T FMN2_ENST00000545751.1_Missense_Mutation_p.S62T NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1466 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.S1609T(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAGCATTTGCTCAATTCGTCG 0.408000 13 78 0 0 0.001855 0 0 CHST6 4166 broad.mit.edu 37 16 75512874 75512874 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:75512874G>A ENST00000332272.4 - 3 1032 c.853C>T c.(853-855)Cgt>Tgt p.R285C RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R285C NM_021615.4 NP_067628.1 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 285 keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 TAGAGCGCACGGATTTCTGCC 0.677000 6 85 0 0 0.001168 0 0 IDS 3423 broad.mit.edu 37 X 148585743 148585743 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:148585743G>C ENST00000340855.6 - 2 393 c.184C>G c.(184-186)Cca>Gca p.P62A IDS_ENST00000370443.4_Missense_Mutation_p.P62A|AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000428056.2_Missense_Mutation_p.P62A|IDS_ENST00000541269.1_Intron|IDS_ENST00000370441.4_Missense_Mutation_p.P62A NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 62 lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TCAATATTTGGGGACCTCACC 0.562000 4 9 0 0 0.000602 0 0 ADAL 161823 broad.mit.edu 37 15 43638089 43638089 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:43638089G>A ENST00000422466.2 + 9 1037 c.463G>A c.(463-465)Gta>Ata p.V155I ADAL_ENST00000389651.4_Missense_Mutation_p.V155I|ADAL_ENST00000562188.1_Missense_Mutation_p.V155I|ADAL_ENST00000428046.3_Missense_Mutation_p.V155I Q6DHV7 ADAL_HUMAN adenosine deaminase-like 155 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) TGGCCCTTTAGTAGCCAAGGA 0.408000 28 49 0 0 0.006320 0 0 PSMC6 5706 broad.mit.edu 37 14 53173987 53173987 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:53173987T>C ENST00000445930.2 + 1 98 c.92T>C c.(91-93)cTt>cCt p.L31P PSMC6_ENST00000606149.1_Missense_Mutation_p.L17P P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 17 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) AAGAAGTTGCTTGAACACAAG 0.537000 7 30 0 0 0.003080 0 0 UBA6 55236 broad.mit.edu 37 4 68490770 68490770 + Missense_Mutation SNP C C T rs140996878 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr4:68490770C>T ENST00000322244.4 - 29 2713 c.2654G>A c.(2653-2655)cGc>cAc p.R885H NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 885 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding p.R885H(1) central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 ACCAGCTATGCGCTTTGTTTT 0.373000 8 45 0 0 0.003080 0 0 MGAT5B 146664 broad.mit.edu 37 17 74901400 74901400 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:74901400G>T ENST00000569840.2 + 7 1414 c.840G>T c.(838-840)caG>caT p.Q280H MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Missense_Mutation_p.Q280H|MGAT5B_ENST00000428789.2_Missense_Mutation_p.Q291H NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 280 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GGGCCACCCAGAGGGACCAGA 0.627000 12 35 5.16669e-11 6.52634e-11 0.000978 1 0 TP53 7157 broad.mit.edu 37 17 7577046 7577046 + Nonsense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:7577046C>A ENST00000420246.2 - 8 1024 c.892G>T c.(892-894)Gag>Tag p.E298* TP53_ENST00000445888.2_Nonsense_Mutation_p.E298*|TP53_ENST00000269305.4_Nonsense_Mutation_p.E298*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E298*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E298* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 298 Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E298*(49)|p.0?(8)|p.?(2)|p.E298K(1)|p.L299fs*2(1)|p.L265_K305del41(1)|p.E298fs*53(1)|p.G293fs*1(1)|p.E298Q(1)|p.E298_P301delELPP(1)|p.H296_S303delHHELPPGS(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGGGGCAGCTCGTGGTGAGGC 0.567000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 25 54 3.65163e-15 4.78701e-15 0.006320 1 0 ARNT2 9915 broad.mit.edu 37 15 80867386 80867386 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:80867386C>T ENST00000533983.1 + 15 1754 c.1415C>T c.(1414-1416)gCg>gTg p.A472V ARNT2_ENST00000527771.1_Missense_Mutation_p.A472V|ARNT2_ENST00000303329.4_Missense_Mutation_p.A483V Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 483 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) GTGGAAAAGGCGGATGCAATC 0.473000 5 131 0 0 0.000602 0 0 MALAT1 378938 broad.mit.edu 37 11 65265869 65265869 + RNA SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:65265869G>A ENST00000534336.1 + 0 637 AP000769.7_ENST00000602344.1_lincRNA NR_002819.2 ACGGCCCCCGGGGCTCAGGCG 0.617000 17 23 0 0 0.006122 0 0 DXO 1797 broad.mit.edu 37 6 31938542 31938542 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:31938542G>A ENST00000375349.3 - 4 1064 c.653C>T c.(652-654)tCt>tTt p.S218F DOM3Z_ENST00000375356.3_Missense_Mutation_p.S218F|DOM3Z_ENST00000337523.5_Missense_Mutation_p.S218F|DOM3Z_ENST00000478221.1_Intron O77932 DOM3Z_HUMAN 218 identical protein binding|metal ion binding|nucleotide binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 7 GCGTAGCACAGAGCAGAAGGC 0.622000 6 42 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9062563 9062563 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:9062563G>A ENST00000397910.4 - 3 25086 c.24883C>T c.(24883-24885)Cct>Tct p.P8295S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8297 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGTCACAGGAAGAGAAGCG 0.512000 22 50 0 0 0.002299 0 0 ZNF563 147837 broad.mit.edu 37 19 12433432 12433432 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:12433432T>C ENST00000293725.5 - 2 302 c.97A>G c.(97-99)Atg>Gtg p.M33V ZNF563_ENST00000595977.1_Missense_Mutation_p.M33V NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 33 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 GTTTCTTGCATCACATATCTG 0.433000 24 49 0 0 0.002780 0 0 VPS53 55275 broad.mit.edu 37 17 465756 465756 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:465756C>A ENST00000437048.2 - 14 1689 c.1543G>T c.(1543-1545)Ggc>Tgc p.G515C VPS53_ENST00000571805.1_Missense_Mutation_p.G515C|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Missense_Mutation_p.G317C|VPS53_ENST00000401468.3_Missense_Mutation_p.G238C|VPS53_ENST00000291074.5_Missense_Mutation_p.G486C NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 515 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GGCAGGTTGCCAGAGAGGATT 0.478000 22 59 1.85244e-09 2.25766e-09 0.003330 1 0 SIAH1 6477 broad.mit.edu 37 16 48399304 48399304 + Nonsense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:48399304T>A ENST00000356721.3 - 1 508 c.85A>T c.(85-87)Aga>Tga p.R29* SIAH1_ENST00000394725.2_Intron|SIAH1_ENST00000573005.1_5'UTR NM_001006610.1 NP_001006611.1 Q8IUQ4 SIAH1_HUMAN siah E3 ubiquitin protein ligase 1 0 axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis beta-catenin destruction complex|cytosol|nucleus protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1) 7 all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238) ATACCTTTTCTCTTCCTTGTC 0.507000 5 20 0 0 0.000602 0 0 IGKV1D-43 28891 broad.mit.edu 37 2 90249143 90249143 + RNA SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:90249143G>A ENST00000468879.1 + 0 280 CATTCTCCCTGTCTGCATCTG 0.458000 32 241 0 0 0.002096 0 0 BARHL2 343472 broad.mit.edu 37 1 91180103 91180103 + Nonsense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:91180103C>T ENST00000370445.4 - 2 877 c.836G>A c.(835-837)tGg>tAg p.W279* NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 279 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) GTTCTGGTACCAGGTCTTGAC 0.547000 43 52 0 0 0.009718 0 0 SLC5A12 159963 broad.mit.edu 37 11 26695058 26695058 + Missense_Mutation SNP T T G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:26695058T>G ENST00000396005.3 - 14 1907 c.1598A>C c.(1597-1599)gAt>gCt p.D533A NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 533 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TGGTTGAATATCCTCACCTCT 0.373000 13 103 0 0 0.004007 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21030851 21030851 + Silent SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:21030851T>A ENST00000381545.3 + 10 1335 c.1116T>A c.(1114-1116)tcT>tcA p.S372S LST3_ENST00000540229.1_Silent_p.S372S|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Silent_p.S372S|SLCO1B3_ENST00000261196.2_Silent_p.S372S NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 372 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) AGTCTGCATCTCATGCTAACT 0.328000 17 53 0 0 0.007413 0 0 UGT1A6 54578 broad.mit.edu 37 2 234680964 234680964 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:234680964C>T ENST00000305139.6 + 5 1497 c.1358C>T c.(1357-1359)cCg>cTg p.P453L UGT1A1_ENST00000305208.5_Missense_Mutation_p.P454L|UGT1A6_ENST00000373424.1_Missense_Mutation_p.P186L|UGT1A7_ENST00000373426.3_Missense_Mutation_p.P451L|UGT1A4_ENST00000373409.3_Missense_Mutation_p.P455L|UGT1A8_ENST00000373450.4_Missense_Mutation_p.P451L|UGT1A9_ENST00000354728.4_Missense_Mutation_p.P451L|UGT1A10_ENST00000344644.5_Missense_Mutation_p.P451L|UGT1A5_ENST00000373414.3_Missense_Mutation_p.P455L|UGT1A3_ENST00000482026.1_Missense_Mutation_p.P455L NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) CCGGTGGAGCCGCTGGACCTG 0.587000 15 84 0 0 0.003163 0 0 NPAS3 64067 broad.mit.edu 37 14 33684540 33684540 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:33684540T>A ENST00000346562.2 + 2 277 c.203T>A c.(202-204)aTt>aAt p.I68N NPAS3_ENST00000551492.1_Missense_Mutation_p.I105N|NPAS3_ENST00000356141.4_Missense_Mutation_p.I98N|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000341321.4_Missense_Mutation_p.I98N|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000357798.5_Missense_Mutation_p.I68N|NPAS3_ENST00000548645.1_Missense_Mutation_p.I68N NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2 NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 98 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) CGACTTACAATTAGCTATCTG 0.463000 34 66 0 0 0.002096 0 0 DPPA2 151871 broad.mit.edu 37 3 109031513 109031513 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:109031513A>T ENST00000478945.1 - 3 306 c.60T>A c.(58-60)gaT>gaA p.D20E NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 20 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CACTTTCCTCATCATCTACTT 0.408000 8 82 0 0 0.003080 0 0 APAF1 317 broad.mit.edu 37 12 99056319 99056319 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:99056319G>T ENST00000357310.1 + 6 1373 c.796G>T c.(796-798)Gac>Tac p.D266Y APAF1_ENST00000551964.1_Missense_Mutation_p.D266Y|APAF1_ENST00000547045.1_Missense_Mutation_p.D266Y|APAF1_ENST00000549007.1_Missense_Mutation_p.D266Y|APAF1_ENST00000552268.1_Missense_Mutation_p.D266Y|APAF1_ENST00000339433.3_Missense_Mutation_p.D266Y|APAF1_ENST00000333991.1_Missense_Mutation_p.D266Y|APAF1_ENST00000359972.2_Missense_Mutation_p.D255Y|APAF1_ENST00000550527.1_Missense_Mutation_p.D255Y NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 266 NB-ARC. activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding p.D266Y(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) TACAACCAGAGACAAGAGTGT 0.313000 17 25 2.48551e-13 3.16521e-13 0.004990 1 0 CRP 1401 broad.mit.edu 37 1 159683905 159683905 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:159683905A>G ENST00000255030.5 - 2 188 c.85T>C c.(85-87)Ttt>Ctt p.F29L CRP_ENST00000368112.1_Missense_Mutation_p.F29L|CRP_ENST00000343919.2_Missense_Mutation_p.F29L|CRP_ENST00000368111.1_Missense_Mutation_p.F29L|CRP_ENST00000437342.1_Intron|CRP_ENST00000368110.1_Missense_Mutation_p.F29L NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 29 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) TCTTTGGGAAACACAAAAGCC 0.458000 11 78 0 0 0.001368 0 0 POLL 27343 broad.mit.edu 37 10 103342623 103342623 + Missense_Mutation SNP C C A rs146112511 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:103342623C>A ENST00000370162.3 - 7 1585 c.1091G>T c.(1090-1092)cGc>cTc p.R364L POLL_ENST00000299206.4_Missense_Mutation_p.R364L|POLL_ENST00000370168.3_Missense_Mutation_p.R37L|POLL_ENST00000370169.1_Missense_Mutation_p.R364L|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.R89L|POLL_ENST00000339310.3_Missense_Mutation_p.R87L|POLL_ENST00000370172.1_Missense_Mutation_p.R276L|POLL_ENST00000456836.2_Missense_Mutation_p.R101L|DPCD_ENST00000416979.2_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 364 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) GGCCTGGCTGCGGATGTCTTC 0.552000 DNA polymerases (catalytic subunits) 14 89 3.27435e-08 3.91417e-08 0.002450 1 0 PWWP2B 170394 broad.mit.edu 37 10 134218293 134218293 + Missense_Mutation SNP A A C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:134218293A>C ENST00000305233.5 + 2 348 c.289A>C c.(289-291)Acc>Ccc p.T97P PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 97 Pro-rich. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCCCGAGACCACCCGCCCCGA 0.756000 6 17 0 0 0.008291 0 0 NPAP1 23742 broad.mit.edu 37 15 24923749 24923749 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:24923749G>T ENST00000329468.2 + 1 3209 c.2735G>T c.(2734-2736)aGt>aTt p.S912I NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AAGTCTGACAGTTCTTTTATT 0.488000 42 114 1.07121e-22 1.47232e-22 0.006999 1 0 CLP1 10978 broad.mit.edu 37 11 57428484 57428484 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:57428484T>C ENST00000533682.1 + 3 1579 c.854T>C c.(853-855)gTg>gCg p.V285A CLP1_ENST00000302731.4_Missense_Mutation_p.V221A|CLP1_ENST00000525602.1_Missense_Mutation_p.V285A|CLP1_ENST00000529430.1_Missense_Mutation_p.V296A Q92989 CLP1_HUMAN cleavage and polyadenylation factor I subunit 1 285 mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|siRNA loading onto RISC involved in RNA interference|targeting of mRNA for destruction involved in RNA interference|termination of RNA polymerase II transcription|tRNA splicing, via endonucleolytic cleavage and ligation 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 TCTGGGGGTGTGGTGGAGCGC 0.512000 3 144 0 0 0.004672 0 0 MTL5 9633 broad.mit.edu 37 11 68506204 68506204 + Nonsense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:68506204G>C ENST00000255087.5 - 6 1064 c.881C>G c.(880-882)tCa>tGa p.S294* MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Nonsense_Mutation_p.S294* NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 294 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TGGAAGAGTTGATCCCGAGGG 0.408000 93 174 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9086084 9086084 + Nonsense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:9086084G>A ENST00000397910.4 - 1 5934 c.5731C>T c.(5731-5733)Cga>Tga p.R1911* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1911 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCTCAGGTCGGGGATGGATT 0.488000 11 27 0 0 0.008291 0 0 MYO18A 399687 broad.mit.edu 37 17 27447762 27447762 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:27447762C>T ENST00000527372.1 - 7 1780 c.1600G>A c.(1600-1602)Gct>Act p.A534T MYO18A_ENST00000533112.1_Missense_Mutation_p.A534T|MYO18A_ENST00000354329.4_Missense_Mutation_p.A534T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A534T NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 534 Myosin head-like. anti-apoptosis|DNA metabolic process 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) GTGTACAGAGCCTGCCACTTC 0.567000 25 49 0 0 0.003954 0 0 VARS 7407 broad.mit.edu 37 6 31752467 31752467 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:31752467C>A ENST00000375663.3 - 11 1812 c.1372G>T c.(1372-1374)Gcc>Tcc p.A458S VARS_ENST00000444930.2_Missense_Mutation_p.A163S NM_006295.2 NP_006286.1 P26640 SYVC_HUMAN valyl-tRNA synthetase 458 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CGGACAAAGGCCTCTGTCACA 0.592000 24 53 4.47668e-21 6.07271e-21 0.003954 1 0 MADD 8567 broad.mit.edu 37 11 47306595 47306595 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:47306595G>A ENST00000342922.4 + 13 2618 c.2261G>A c.(2260-2262)cGt>cAt p.R754H MADD_ENST00000407859.3_Missense_Mutation_p.R754H|MADD_ENST00000406482.1_Missense_Mutation_p.R754H|MADD_ENST00000395336.3_Missense_Mutation_p.R754H|MADD_ENST00000402192.2_Missense_Mutation_p.R754H|MADD_ENST00000349238.3_Missense_Mutation_p.R754H|MADD_ENST00000402799.1_Missense_Mutation_p.R754H|MADD_ENST00000395344.3_Missense_Mutation_p.R754H|MADD_ENST00000311027.5_Missense_Mutation_p.R754H NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 754 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) GTGGACAGACGTCAGGCAGAA 0.557000 6 90 0 0 0.001168 0 0 ZNF658 26149 broad.mit.edu 37 9 40772546 40772546 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:40772546T>C ENST00000602553.1 - 5 3023 c.2729A>G c.(2728-2730)tAt>tGt p.Y910C ZNF658_ENST00000377626.3_Missense_Mutation_p.Y910C|ZNF658_ENST00000441795.1_Intron Q5TYW1 ZN658_HUMAN zinc finger protein 658 910 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ACTGCATTCATAGGGTTTCTC 0.443000 139 120 0 0 0.003610 0 0 MBOAT7 79143 broad.mit.edu 37 19 54677883 54677883 + Missense_Mutation SNP T T G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:54677883T>G ENST00000245615.1 - 8 1754 c.1274A>C c.(1273-1275)tAc>tCc p.Y425S MBOAT7_ENST00000338624.6_Missense_Mutation_p.Y352S|MBOAT7_ENST00000431666.2_Missense_Mutation_p.Y352S NM_024298.3 NP_077274.3 Q96N66 MBOA7_HUMAN membrane bound O-acyltransferase domain containing 7 425 phospholipid biosynthetic process integral to membrane acyltransferase activity endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 10 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGAGGCCCAGTACCGAAGGGT 0.637000 18 103 0 0 0.004990 0 0 ZNF425 155054 broad.mit.edu 37 7 148801945 148801945 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:148801945G>A ENST00000378061.2 - 4 1150 c.1018C>T c.(1018-1020)Cgc>Tgc p.R340C NM_001001661.2 NP_001001661.1 Q6IV72 ZN425_HUMAN zinc finger protein 425 340 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) CTCTTCAGGCGGAAGCACCGG 0.662000 10 45 0 0 0.006214 0 0 RASEF 158158 broad.mit.edu 37 9 85616027 85616027 + Nonsense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:85616027A>T ENST00000376447.3 - 10 1481 c.1221T>A c.(1219-1221)taT>taA p.Y407* NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 407 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 CCTCATCCACATAGGAAGAGC 0.502000 9 34 0 0 0.006214 0 0 LRFN5 145581 broad.mit.edu 37 14 42360587 42360587 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:42360587A>G ENST00000298119.4 + 4 2709 c.1520A>G c.(1519-1521)cAg>cGg p.Q507R LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron NM_152447.3 NP_689660.2 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 507 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) GGTTGCATCCAGTTTACTACG 0.433000 HNSCC(30;0.082) 25 95 0 0 0.003330 0 0 MAP4K1 11184 broad.mit.edu 37 19 39100273 39100273 + Silent SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:39100273G>C ENST00000591517.1 - 13 997 c.969C>G c.(967-969)cgC>cgG p.R323R MAP4K1_ENST00000586296.1_Silent_p.R323R|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000396857.2_Silent_p.R323R|MAP4K1_ENST00000589130.1_Silent_p.R319R|MAP4K1_ENST00000423454.2_5'UTR NM_007181.4 NP_009112.1 Q92918 M4K1_HUMAN mitogen-activated protein kinase kinase kinase kinase 1 323 activation of JUN kinase activity|peptidyl-serine phosphorylation ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 44 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) GAGAGCTGGAGCGGTGGGTGG 0.592000 8 29 0 0 0.004482 0 0 SERPINB6 5269 broad.mit.edu 37 6 2948568 2948568 + Missense_Mutation SNP G G T rs145397970 byFrequency TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:2948568G>T ENST00000380520.1 - 6 3089 c.1095C>A c.(1093-1095)aaC>aaA p.N365K SERPINB6_ENST00000380529.1_Missense_Mutation_p.N365K|SERPINB6_ENST00000335686.5_Missense_Mutation_p.N365K|SERPINB6_ENST00000380546.3_Missense_Mutation_p.N365K|SERPINB6_ENST00000380524.1_Missense_Mutation_p.N365K|SERPINB6_ENST00000380539.1_Missense_Mutation_p.N365K P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 365 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) AGAGAATCCCGTTGGTCTTGC 0.602000 34 36 5.97227e-30 8.46976e-30 0.002096 1 0 SP4 6671 broad.mit.edu 37 7 21469118 21469118 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:21469118C>T ENST00000222584.3 + 3 553 c.335C>T c.(334-336)tCa>tTa p.S112L NM_003112.3 NP_003103.2 Q02446 SP4_HUMAN Sp4 transcription factor 112 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 CCTCCTGCTTCAAAAGAGAAT 0.438000 17 56 0 0 0.007413 0 0 ABCA3 21 broad.mit.edu 37 16 2333222 2333222 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:2333222C>A ENST00000301732.5 - 26 4700 c.4000G>T c.(4000-4002)Ggc>Tgc p.G1334C ABCA3_ENST00000382381.3_Missense_Mutation_p.G1276C NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 1334 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CAGAGGATGCCCCTGAGTCTC 0.672000 23 39 3.8784e-16 5.10575e-16 0.001882 1 0 MTHFD1L 25902 broad.mit.edu 37 6 151239718 151239718 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:151239718G>A ENST00000367321.3 + 9 1172 c.898G>A c.(898-900)Gtt>Att p.V300I NM_001242767.1|NM_001242768.1|NM_015440.4 NP_001229696.1|NP_001229697.1|NP_056255.2 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like 300 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2) 29 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) TACAGGGAAGGTTGGGTGTGG 0.413000 28 42 0 0 0.004656 0 0 IARS 3376 broad.mit.edu 37 9 95027219 95027219 + Silent SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:95027219G>C ENST00000375643.3 - 16 1958 c.1692C>G c.(1690-1692)acC>acG p.T564T IARS_ENST00000443024.2_Silent_p.T564T|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.T454T NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 564 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) ACCATCCTCTGGTTTGGTCGA 0.423000 9 35 0 0 0.004482 0 0 GSR 2936 broad.mit.edu 37 8 30546804 30546804 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:30546804C>T ENST00000221130.5 - 9 1005 c.915G>A c.(913-915)ttG>ttA p.L305L GSR_ENST00000414019.1_Silent_p.L262L|GSR_ENST00000546342.1_Silent_p.L276L|GSR_ENST00000541648.1_Intron|GSR_ENST00000537535.1_Intron NM_000637.3|NM_001195102.1|NM_001195103.1 NP_000628.2|NP_001182031.1|NP_001182032.1 P00390 GSHR_HUMAN glutathione reductase 305 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 23 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) TGCTGACTTCCAAGCCCGACA 0.502000 27 27 0 0 0.007291 0 0 SPG11 80208 broad.mit.edu 37 15 44890998 44890998 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:44890998C>A ENST00000261866.7 - 22 3739 c.3723G>T c.(3721-3723)ggG>ggT p.G1241G SPG11_ENST00000535302.2_Silent_p.G1241G|SPG11_ENST00000427534.2_Silent_p.G1241G|SPG11_ENST00000558319.1_Silent_p.G1241G NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 1241 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AGGAGGAGAGCCCTATAACAT 0.418000 18 37 3.41278e-10 4.24218e-10 0.004990 1 0 KIRREL 55243 broad.mit.edu 37 1 158047873 158047873 + Nonsense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:158047873G>T ENST00000368173.3 + 3 699 c.295G>T c.(295-297)Gag>Tag p.E99* KIRREL_ENST00000359209.6_Nonsense_Mutation_p.E99*|KIRREL_ENST00000416935.2_Intron|KIRREL_ENST00000360089.4_Nonsense_Mutation_p.E38*|KIRREL_ENST00000392272.2_Nonsense_Mutation_p.E99* NM_018240.5 NP_060710.3 Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 99 Ig-like C2-type 1. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) CGCCTCTTACGAGTGCCAGGC 0.627000 35 87 1.60099e-16 2.11656e-16 0.004878 1 0 CYP2E1 1571 broad.mit.edu 37 10 135346244 135346244 + Nonsense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:135346244A>T ENST00000463117.2 + 7 969 c.697A>T c.(697-699)Aga>Tga p.R233* SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Nonsense_Mutation_p.R233* P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, polypeptide 1 233 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) TGGAAGCCACAGAAAAGTCAT 0.408000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 26 174 0 0 0.003954 0 0 MAP3K19 80122 broad.mit.edu 37 2 135743820 135743820 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:135743820A>T ENST00000375845.3 - 7 2652 c.2622T>A c.(2620-2622)aaT>aaA p.N874K MAP3K19_ENST00000392915.1_Missense_Mutation_p.N891K|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.N761K|MAP3K19_ENST00000315513.3_5'UTR NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GAGATGCTGTATTCTGCTTTT 0.378000 22 42 0 0 0.002299 0 0 PCLO 27445 broad.mit.edu 37 7 82390032 82390032 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:82390032C>A ENST00000333891.8 - 24 15548 c.15211G>T c.(15211-15213)Gta>Tta p.V5071L NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4994 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 TGTCTGCATACTCTTGTTTTT 0.333000 9 36 1.12685e-05 1.26013e-05 0.004482 1 0 OR7G2 390882 broad.mit.edu 37 19 9213532 9213532 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:9213532G>T ENST00000305456.2 - 1 450 c.451C>A c.(451-453)Ctt>Att p.L151I NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 GTGTATCTAAGGGGGTGACAA 0.498000 15 28 1.05317e-09 1.28858e-09 0.002450 1 0 VSNL1 7447 broad.mit.edu 37 2 17836566 17836566 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:17836566A>T ENST00000406397.1 + 4 1006 c.481A>T c.(481-483)Aac>Tac p.N161Y VSNL1_ENST00000404666.2_Missense_Mutation_p.N161Y|VSNL1_ENST00000295156.4_Missense_Mutation_p.N161Y P62760 VISL1_HUMAN visinin-like 1 161 EF-hand 4. calcium ion binding NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GATGGATAAGAACAAAGATGA 0.428000 26 26 0 0 0.003330 0 0 SH3GL3 6457 broad.mit.edu 37 15 84255793 84255793 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:84255793A>T ENST00000324537.5 + 10 1199 c.707A>T c.(706-708)cAg>cTg p.Q236L SH3GL3_ENST00000427482.2_Missense_Mutation_p.Q228L|SH3GL3_ENST00000535412.1_Missense_Mutation_p.Q228L|SH3GL3_ENST00000434347.1_Missense_Mutation_p.Q236L Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 228 BAR.|Interaction with ARC (By similarity). central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 TATCACAGACAGTCCACAGAG 0.502000 5 17 0 0 0.001168 0 0 SLC4A4 8671 broad.mit.edu 37 4 72420881 72420881 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr4:72420881G>C ENST00000340595.3 + 18 2783 c.2587G>C c.(2587-2589)Ggt>Cgt p.G863R SLC4A4_ENST00000351898.6_Missense_Mutation_p.G823R|SLC4A4_ENST00000425175.1_Missense_Mutation_p.G907R|SLC4A4_ENST00000264485.5_Missense_Mutation_p.G907R NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 907 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TGTACTCTATGGTGTGTTCCT 0.328000 28 210 0 0 0.002096 0 0 OR6M1 390261 broad.mit.edu 37 11 123676665 123676665 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:123676665C>A ENST00000309154.2 - 1 430 c.393G>T c.(391-393)acG>acT p.T131T NM_001005325.1 NP_001005325.1 Q8NGM8 OR6M1_HUMAN olfactory receptor, family 6, subfamily M, member 1 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T131T(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1) 29 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028) TCATGATGACCGTGTAGTGCA 0.517000 19 20 1.64113e-05 1.82218e-05 0.010504 1 0 EGR2 1959 broad.mit.edu 37 10 64575770 64575770 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:64575770A>G ENST00000242480.3 - 1 345 c.20T>C c.(19-21)gTa>gCa p.V7A EGR2_ENST00000411732.1_Intron|EGR2_ENST00000439032.1_Missense_Mutation_p.V7A|EGR2_ENST00000493899.2_Intron NM_000399.3|NM_001136177.1 NP_000390.2|NP_001129649.1 P11161 EGR2_HUMAN early growth response 2 7 fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter cytoplasm|nucleus chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1) 36 Prostate(12;0.0297)|all_hematologic(501;0.228) GATTTTGTCTACGGCCTTGGC 0.562000 72 90 0 0 0.003610 0 0 CASS4 57091 broad.mit.edu 37 20 55026880 55026880 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr20:55026880G>T ENST00000371336.3 + 5 849 c.648G>T c.(646-648)caG>caT p.Q216H CASS4_ENST00000434344.1_Intron|CASS4_ENST00000360314.3_Missense_Mutation_p.Q216H NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 216 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 CACAGGGGCAGGGTGTTCCCC 0.502000 18 48 1.00905e-13 1.30632e-13 0.008871 1 0 UPK3B 80761 broad.mit.edu 37 7 76140092 76140092 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:76140092C>A ENST00000419923.2 + 1 348 c.123C>A c.(121-123)acC>acA p.T41T UPK3B_ENST00000448265.3_Silent_p.T41T|UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000334348.3_Intron|UPK3B_ENST00000257632.5_Silent_p.T41T|UPK3B_ENST00000443097.2_Intron Q9BT76 UPK3B_HUMAN uroplakin 3B 41 negative regulation of gene expression integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2) 8 Myeloproliferative disorder(862;0.204) CCAGCCAGACCCAAGGGGCTG 0.706000 7 22 1.58986e-06 1.81036e-06 0.008291 1 0 CREB3L1 90993 broad.mit.edu 37 11 46332681 46332681 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:46332681A>G ENST00000529193.1 + 5 1145 c.694A>G c.(694-696)Agg>Ggg p.R232G CREB3L1_ENST00000288400.3_Missense_Mutation_p.R232G Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 1 232 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3) 12 GBM - Glioblastoma multiforme(35;0.0285) CAGCCCTGTCAGGCCCATGGC 0.667000 T FUS myxofibrosarcoma 3 70 0 0 0.004672 0 0 COBL 23242 broad.mit.edu 37 7 51097136 51097136 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:51097136C>G ENST00000395542.2 - 12 2087 c.1903G>C c.(1903-1905)Gat>Cat p.D635H COBL_ENST00000265136.7_Missense_Mutation_p.D553H O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 553 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) AACCCCGAATCCACAGGATCA 0.527000 22 55 0 0 0.010504 0 0 ZXDA 7789 broad.mit.edu 37 X 57934507 57934507 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:57934507G>C ENST00000358697.4 - 1 2560 c.2348C>G c.(2347-2349)tCt>tGt p.S783C NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 783 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 TTCTTTCTGAGAACCATGGTT 0.448000 25 16 0 0 0.002780 0 0 TCP10L2 401285 broad.mit.edu 37 6 167595389 167595389 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:167595389G>A ENST00000366832.2 + 8 1178 c.1047G>A c.(1045-1047)caG>caA p.Q349Q NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 349 endometrium(1)|kidney(2)|lung(3) 6 CCTCCAGACAGGACATGGGGC 0.517000 18 8 0 0 0.001882 0 0 CERCAM 51148 broad.mit.edu 37 9 131193524 131193524 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:131193524G>A ENST00000372842.1 + 10 4055 c.911G>A c.(910-912)cGc>cAc p.R304H CERCAM_ENST00000372838.4_Missense_Mutation_p.R382H Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 382 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 TACTCGGGCCGCACTCTGACC 0.627000 4 123 0 0 0.009096 0 0 PTCD3 55037 broad.mit.edu 37 2 86352147 86352147 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:86352147C>T ENST00000254630.7 + 10 812 c.746C>T c.(745-747)tCt>tTt p.S249F PTCD3_ENST00000409277.3_Missense_Mutation_p.L208F NM_017952.5 NP_060422.4 Q96EY7 PTCD3_HUMAN pentatricopeptide repeat domain 3 249 mitochondrion protein binding NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1) 22 AGAATCTTTTCTCTAATGCCA 0.368000 5 35 0 0 0.000602 0 0 KCNK18 338567 broad.mit.edu 37 10 118957108 118957108 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:118957108G>T ENST00000334549.1 + 1 109 c.109G>T c.(109-111)Ggt>Tgt p.G37C NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 37 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CGCCCTGGTGGGTGCTGTGGT 0.597000 29 27 9.39395e-14 1.22121e-13 0.006320 1 0 ACSS3 79611 broad.mit.edu 37 12 81472018 81472018 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:81472018C>T ENST00000548058.1 + 1 1029 c.119C>T c.(118-120)cCg>cTg p.P40L ACSS3_ENST00000261206.3_Missense_Mutation_p.P40L Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 40 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 TTAGTGGTCCCGGGCCCGCGG 0.731000 3 19 0 0 0.004672 0 0 POGLUT1 56983 broad.mit.edu 37 3 119199009 119199009 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:119199009G>C ENST00000295588.4 + 5 652 c.568G>C c.(568-570)Gat>Cat p.D190H NM_152305.2 NP_689518.1 Q8NBL1 PGLT1_HUMAN protein O-glucosyltransferase 1 190 endoplasmic reticulum lumen UDP-glucosyltransferase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1) 16 CTTCAGAGAAGATCTGGTAAG 0.383000 10 34 0 0 0.008291 0 0 MC2R 4158 broad.mit.edu 37 18 13884633 13884633 + Missense_Mutation SNP C C G rs147683219 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr18:13884633C>G ENST00000327606.3 - 2 1065 c.885G>C c.(883-885)agG>agC p.R295S NM_000529.2 NP_000520.1 Q01718 ACTHR_HUMAN melanocortin 2 receptor (adrenocorticotropic hormone) 295 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Corticotropin(DB01285)|Cosyntropin(DB01284) TCTACCAGTACCTGCTGCAGA 0.478000 18 57 0 0 0.007413 0 0 IRAK4 51135 broad.mit.edu 37 12 44180289 44180289 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:44180289G>A ENST00000431837.1 + 10 1212 c.904G>A c.(904-906)Gtt>Att p.V302I IRAK4_ENST00000440781.2_Missense_Mutation_p.V302I|IRAK4_ENST00000448290.2_Missense_Mutation_p.V426I|IRAK4_ENST00000551736.1_Missense_Mutation_p.V426I NM_001145256.1|NM_001145257.1 NP_001138728.1|NP_001138729.1 Q9NWZ3 IRAK4_HUMAN interleukin-1 receptor-associated kinase 4 426 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity all_cancers(12;0.00149) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.04) TTCCACTTCAGTTGAAGCTAT 0.284000 16 87 0 0 0.004990 0 0 MTL5 9633 broad.mit.edu 37 11 68506237 68506237 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:68506237G>A ENST00000255087.5 - 6 1031 c.848C>T c.(847-849)tCg>tTg p.S283L MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.S283L NM_004923.3 NP_004914.2 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 283 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) GTTGACTACCGATGGTAAGGC 0.438000 78 157 0 0 0.003610 0 0 PLCB1 23236 broad.mit.edu 37 20 8741079 8741079 + Silent SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr20:8741079A>G ENST00000378641.3 + 25 3157 c.2682A>G c.(2680-2682)acA>acG p.T894T PLCB1_ENST00000378637.2_Silent_p.T894T|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Silent_p.T894T NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 894 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CTGCCAAAACAGAAGATCTTA 0.358000 5 14 0 0 0.001168 0 0 ECM2 1842 broad.mit.edu 37 9 95274325 95274325 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:95274325T>A ENST00000344604.5 - 5 1287 c.1138A>T c.(1138-1140)Act>Tct p.T380S ECM2_ENST00000444490.2_Missense_Mutation_p.T358S|CENPP_ENST00000375587.3_Intron NM_001197295.1|NM_001393.3 NP_001184224.1|NP_001384.1 O94769 ECM2_HUMAN extracellular matrix protein 2, female organ and adipocyte specific 380 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 CCTGAAGAAGTGATATTATTT 0.403000 11 50 0 0 0.001855 0 0 SH3TC2 79628 broad.mit.edu 37 5 148406412 148406412 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:148406412G>A ENST00000394358.2 - 12 2990 c.2538C>T c.(2536-2538)gtC>gtT p.V846V SH3TC2_ENST00000515425.1_Intron|SH3TC2_ENST00000538184.1_Intron|SH3TC2_ENST00000512049.1_Intron Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 0 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCAGCATGGGACATACTTAC 0.433000 20 126 0 0 0.007413 0 0 SIAH3 283514 broad.mit.edu 37 13 46357673 46357673 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:46357673G>A ENST00000400405.2 - 2 761 c.655C>T c.(655-657)Cgg>Tgg p.R219W NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 219 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 AGAACAGACCGGGGCGTGGCC 0.617000 22 26 0 0 0.002780 0 0 IL5RA 3568 broad.mit.edu 37 3 3146617 3146617 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:3146617G>T ENST00000446632.2 - 3 626 c.52C>A c.(52-54)Ctg>Atg p.L18M IL5RA_ENST00000430514.2_Missense_Mutation_p.L18M|IL5RA_ENST00000418488.2_Missense_Mutation_p.L18M|IL5RA_ENST00000383846.1_Missense_Mutation_p.L18M|IL5RA_ENST00000311981.8_Missense_Mutation_p.L18M|IL5RA_ENST00000256452.3_Missense_Mutation_p.L18M|IL5RA_ENST00000456302.1_Missense_Mutation_p.L18M|IL5RA_ENST00000438560.1_Missense_Mutation_p.L18M|IL5RA_ENST00000445864.2_Missense_Mutation_p.L18M NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 18 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) TCAGCTTGCAGTATCTCAGTG 0.333000 7 12 5.68852e-11 7.15653e-11 0.004482 1 0 TAF1 6872 broad.mit.edu 37 X 70612767 70612767 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:70612767A>G ENST00000449580.1 + 20 3022 c.2971A>G c.(2971-2973)Aca>Gca p.T991A TAF1_ENST00000423759.1_Missense_Mutation_p.T1012A|TAF1_ENST00000373790.4_Missense_Mutation_p.T991A|TAF1_ENST00000276072.3_Missense_Mutation_p.T1012A P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 991 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) AGTGACAGGAACAGATGCAGA 0.428000 52 31 0 0 0.003610 0 0 CDIPT 10423 broad.mit.edu 37 16 29872572 29872572 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:29872572A>T ENST00000219789.6 - 3 1065 c.187T>A c.(187-189)Ttt>Att p.F63I CDIPT_ENST00000570016.1_Missense_Mutation_p.F63I|CDIPT_ENST00000563415.1_Missense_Mutation_p.F63I|CDIPT_ENST00000561555.1_Missense_Mutation_p.F87I|CDIPT_ENST00000569956.1_Missense_Mutation_p.F63I|CDIPT_ENST00000566113.1_Missense_Mutation_p.F18I NM_006319.3 NP_006310.1 O14735 CDIPT_HUMAN CDP-diacylglycerol--inositol 3-phosphatidyltransferase 63 endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity endometrium(1)|lung(3) 4 ATGGCCCCAAACCGGGTTCCT 0.562000 10 25 0 0 0.000978 0 0 LPAR3 23566 broad.mit.edu 37 1 85331581 85331581 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:85331581C>T ENST00000440886.1 - 1 261 c.223G>A c.(223-225)Gcc>Acc p.A75T LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.A75T Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 75 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 AAGAAATCGGCAGCAGCTAAA 0.423000 22 108 0 0 0.010504 0 0 MECOM 2122 broad.mit.edu 37 3 168838941 168838941 + Silent SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:168838941G>T ENST00000464456.1 - 6 1671 c.471C>A c.(469-471)gcC>gcA p.A157A MECOM_ENST00000494292.1_Silent_p.A345A|MECOM_ENST00000433243.2_Silent_p.A158A|MECOM_ENST00000468789.1_Silent_p.A157A|MECOM_ENST00000472280.1_Silent_p.A158A|MECOM_ENST00000392736.3_Silent_p.A157A|MECOM_ENST00000264674.3_Silent_p.A222A|MECOM_ENST00000460814.1_Silent_p.A157A NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 CATGGGCCCGGGCACCGACAT 0.512000 49 47 3.21987e-24 4.48482e-24 0.003610 1 0 METTL17 64745 broad.mit.edu 37 14 21464757 21464757 + Silent SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:21464757C>T ENST00000339374.6 + 13 1385 c.1152C>T c.(1150-1152)cgC>cgT p.R384R RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Silent_p.R384R|METTL17_ENST00000382985.4_Silent_p.R384R NM_001029991.1|NM_022734.2 NP_001025162.1|NP_073571.1 Q9H7H0 MET17_HUMAN methyltransferase like 17 384 translation mitochondrion|ribosome copper ion binding|methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2) 20 AGGCTCATCGCTGGCCCCGTA 0.517000 17 25 0 0 0.004007 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140866933 140866933 + Silent SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:140866933T>C ENST00000306593.1 + 1 2193 c.2193T>C c.(2191-2193)tgT>tgC p.C731C PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGCACCTGTGCCTGTCTCA 0.537000 8 61 0 0 0.006214 0 0 SNHG14 104472715 broad.mit.edu 37 15 25479262 25479262 + RNA SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:25479262C>T ENST00000453082.2 + 0 1803 NR_003343.1 CAGTGTACGTCAGCCAGGTGC 0.592000 15 27 0 0 0.003163 0 0 YWHAG 7532 broad.mit.edu 37 7 75988084 75988084 + Silent SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:75988084G>T ENST00000307630.3 - 1 264 c.42C>A c.(40-42)gcC>gcA p.A14A NM_012479.3 NP_036611.2 P61981 1433G_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide 14 G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity cytosol insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1) 8 CCGCCTGCTCGGCCAGCCGGG 0.697000 17 40 6.94344e-10 8.56267e-10 0.006122 1 0 KIAA1462 57608 broad.mit.edu 37 10 30317109 30317109 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:30317109T>A ENST00000375377.1 - 3 2069 c.1968A>T c.(1966-1968)gaA>gaT p.E656D NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 656 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 GTCTGTCTTCTTCTGGTTCCC 0.522000 11 47 0 0 0.008291 0 0 ABCC2 1244 broad.mit.edu 37 10 101578649 101578649 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:101578649G>T ENST00000370449.4 + 18 2487 c.2374G>T c.(2374-2376)Gat>Tat p.D792Y NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 792 ABC transporter 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GTCTGCAGTGGATGCTCATGT 0.433000 30 22 4.43304e-23 6.11994e-23 0.006320 1 0 IGDCC3 9543 broad.mit.edu 37 15 65667661 65667661 + Silent SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:65667661C>A ENST00000327987.4 - 2 434 c.183G>T c.(181-183)ctG>ctT p.L61L NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 61 Ig-like C2-type 1. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CCCTGCAGTCCAGCACTATAG 0.592000 9 28 3.07112e-06 3.4717e-06 0.000978 1 0 HERC1 8925 broad.mit.edu 37 15 63986610 63986610 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:63986610T>A ENST00000443617.2 - 29 5468 c.5381A>T c.(5380-5382)cAg>cTg p.Q1794L RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1794 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CTGCAGGGGCTGTCCTAGCAT 0.473000 18 40 0 0 0.006122 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559713 44559713 + Missense_Mutation SNP C C T rs143582553 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr18:44559713C>T ENST00000332567.4 - 1 2275 c.1923G>A c.(1921-1923)atG>atA p.M641I KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 641 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TGAAACAGATCATCTTTGCCT 0.537000 68 80 0 0 0.003610 0 0 PTPRO 5800 broad.mit.edu 37 12 15637161 15637161 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:15637161G>T ENST00000281171.4 + 2 659 c.329G>T c.(328-330)aGa>aTa p.R110I PTPRO_ENST00000348962.2_Missense_Mutation_p.R110I|PTPRO_ENST00000543886.1_Missense_Mutation_p.R110I NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 110 Fibronectin type-III 1. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) AAGCCATCCAGATCAATCACT 0.413000 10 38 7.48243e-07 8.6785e-07 0.006214 1 0 SMARCD3 6604 broad.mit.edu 37 7 150939293 150939293 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:150939293G>A ENST00000392811.2 - 7 1040 c.566C>T c.(565-567)tCt>tTt p.S189F SMARCD3_ENST00000262188.8_Missense_Mutation_p.S202F|SMARCD3_ENST00000477169.1_5'UTR|SMARCD3_ENST00000356800.2_Missense_Mutation_p.S189F NM_003078.3 NP_003069.2 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 202 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAAGAAAGAAGAGAACTTCCG 0.547000 24 130 0 0 0.002780 0 0 TRHDE 29953 broad.mit.edu 37 12 72956711 72956711 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:72956711A>G ENST00000261180.4 + 9 1894 c.1798A>G c.(1798-1800)Atc>Gtc p.I600V TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 600 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTATCCTGTTATCACCATCTT 0.328000 9 70 0 0 0.006214 0 0 GLRA2 2742 broad.mit.edu 37 X 14708939 14708939 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:14708939G>A ENST00000218075.4 + 8 1568 c.1038G>A c.(1036-1038)aaG>aaA p.K346K GLRA2_ENST00000443437.2_Silent_p.K257K|GLRA2_ENST00000355020.4_Silent_p.K346K NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 346 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) GGCAACACAAGGAGTTCCTGC 0.488000 21 19 0 0 0.008871 0 0 AXIN1 8312 broad.mit.edu 37 16 339603 339603 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:339603T>C ENST00000262320.3 - 10 2670 c.2299A>G c.(2299-2301)Aga>Gga p.R767G AXIN1_ENST00000354866.3_Missense_Mutation_p.R731G NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 767 Interaction with PPP2CA. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CTCTGCGATCTTGTCCTGGGG 0.637000 8 28 0 0 0.008291 0 0 ATP8A1 10396 broad.mit.edu 37 4 42576696 42576696 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr4:42576696C>G ENST00000381668.5 - 14 1466 c.1235G>C c.(1234-1236)gGt>gCt p.G412A ATP8A1_ENST00000264449.10_Missense_Mutation_p.G412A NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 412 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TGTCAGAGTACCAGTTTTGTC 0.323000 4 24 0 0 0.000602 0 0 RYR1 6261 broad.mit.edu 37 19 38976617 38976617 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:38976617G>A ENST00000355481.4 + 34 5453 c.5322G>A c.(5320-5322)ccG>ccA p.P1774P RYR1_ENST00000360985.3_Silent_p.P1774P|RYR1_ENST00000359596.3_Silent_p.P1774P NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1774 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGAGGCCCCCGCATCATTTCT 0.692000 8 81 0 0 0.003080 0 0 SLC4A3 6508 broad.mit.edu 37 2 220493179 220493179 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:220493179A>G ENST00000358055.3 + 3 616 c.104A>G c.(103-105)gAc>gGc p.D35G SLC4A3_ENST00000373762.3_Missense_Mutation_p.D35G|SLC4A3_ENST00000317151.3_Missense_Mutation_p.D35G|SLC4A3_ENST00000373760.2_Missense_Mutation_p.D35G|SLC4A3_ENST00000273063.6_Missense_Mutation_p.D35G P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 35 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAGGAGGAGGACGATGACTTG 0.657000 5 19 0 0 0.000602 0 0 DACH2 117154 broad.mit.edu 37 X 85969652 85969652 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:85969652A>G ENST00000373131.1 + 5 1157 c.994A>G c.(994-996)Act>Gct p.T332A DACH2_ENST00000508860.1_Missense_Mutation_p.T178A|DACH2_ENST00000373125.4_Missense_Mutation_p.T345A|DACH2_ENST00000510272.1_Missense_Mutation_p.T126A NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 CCATCTCAATACTATTGCCAA 0.448000 18 21 0 0 0.007413 0 0 PLA2G4C 8605 broad.mit.edu 37 19 48601480 48601480 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:48601480C>A ENST00000354276.3 - 6 811 c.484G>T c.(484-486)Gtg>Ttg p.V162L PLA2G4C_ENST00000599111.1_Missense_Mutation_p.V172L|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.V162L|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.V162L NM_001159323.1 NP_001152795.1 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC (cytosolic, calcium-independent) 162 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3) 38 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) CCTTCTTCCACGGGCTTCTTC 0.527000 27 82 1.75199e-13 2.25876e-13 0.007291 1 0 CHD6 84181 broad.mit.edu 37 20 40033381 40033381 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr20:40033381G>A ENST00000373233.3 - 37 8177 c.8000C>T c.(7999-8001)tCc>tTc p.S2667F CHD6_ENST00000480022.1_5'UTR NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2667 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CTCTGGGTGGGAGTTGGGGTT 0.587000 35 101 0 0 0.003755 0 0 CHST1 8534 broad.mit.edu 37 11 45672189 45672189 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:45672189G>A ENST00000308064.2 - 4 955 c.285C>T c.(283-285)caC>caT p.H95H NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 95 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) TGTTCTGGACGTGGTAGAGGG 0.657000 30 72 0 0 0.008361 0 0 HSDL1 83693 broad.mit.edu 37 16 84163848 84163848 + Nonsense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:84163848G>A ENST00000219439.4 - 4 585 c.409C>T c.(409-411)Cga>Tga p.R137* HSDL1_ENST00000434463.3_Intron NM_001146051.1|NM_031463.4 NP_001139523.1|NP_113651.4 Q3SXM5 HSDL1_HUMAN hydroxysteroid dehydrogenase like 1 137 mitochondrion oxidoreductase activity|protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 AGGGCTTCTCGAATTGGAAGG 0.473000 8 151 0 0 0.003080 0 0 MEF2C 4208 broad.mit.edu 37 5 88047801 88047801 + Missense_Mutation SNP A A C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:88047801A>C ENST00000504921.2 - 5 1134 c.462T>G c.(460-462)agT>agG p.S154R MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000340208.5_Missense_Mutation_p.S172R|MEF2C_ENST00000506554.1_Missense_Mutation_p.S154R|MEF2C_ENST00000539796.1_Missense_Mutation_p.S106R|MEF2C_ENST00000437473.2_Missense_Mutation_p.S154R|MEF2C_ENST00000510942.1_Missense_Mutation_p.S154R|MEF2C_ENST00000508569.1_Missense_Mutation_p.S154R|MEF2C_ENST00000514015.1_Missense_Mutation_p.S154R|MEF2C_ENST00000514028.1_Missense_Mutation_p.S154R|MEF2C_ENST00000424173.2_Missense_Mutation_p.S152R Q06413 MEF2C_HUMAN myocyte enhancer factor 2C 154 Ser-rich. apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 40 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) TGTACACCAAACTGTTGTGGC 0.493000 HNSCC(66;0.2) 13 89 0 0 0.001855 0 0 HIST1H3G 8355 broad.mit.edu 37 6 26271403 26271403 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:26271403G>A ENST00000305910.3 - 1 209 c.210C>T c.(208-210)cgC>cgT p.R70R NM_003534.2 NP_003525.1 P68431 H31_HUMAN histone cluster 1, H3g 70 R -> C (in Ref. 13; AAH67493). blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 12 CTCGCACCAGGCGTTGGAAAG 0.602000 12 138 0 0 0.001368 0 0 PZP 5858 broad.mit.edu 37 12 9317736 9317736 + Splice_Site SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:9317736C>A ENST00000261336.2 - 19 2514 c.2487_splice c.e19+1 p.R829_splice PZP_ENST00000381997.2_Splice_Site_p.R698_splice|PZP_ENST00000539983.1_5'UTR NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TTTCCTTACCCGGATGCATTT 0.463000 17 71 5.35267e-07 6.23146e-07 0.007413 1 0 FOXP1 27086 broad.mit.edu 37 3 71019957 71019957 + Splice_Site SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:71019957C>T ENST00000318789.4 - 19 2178 c.e19-1 FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000491238.1_Splice_Site|FOXP1_ENST00000475937.1_Splice_Site|FOXP1_ENST00000484350.1_Splice_Site|FOXP1_ENST00000498215.1_Splice_Site|FOXP1_ENST00000493089.1_Splice_Site NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GGAAGGGTTACTGTGTAAGAA 0.433000 T PAX5 ALL 24 40 0 0 0.003330 0 0 MRPS31P5 100887750 broad.mit.edu 37 13 52742144 52742144 + RNA SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr13:52742144G>A ENST00000451298.1 - 0 3495 RP11-64P12.8_ENST00000606031.1_RNA CTCTTCATTTGACCCAAAATA 0.507000 8 11 0 0 0.008291 0 0 CHRM3 1131 broad.mit.edu 37 1 240071629 240071629 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:240071629A>G ENST00000255380.4 + 5 1657 c.878A>G c.(877-879)tAc>tGc p.Y293C NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 293 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGCAGCAGTTACGAACTTCAA 0.547000 7 63 0 0 0.001984 0 0 FAM135B 51059 broad.mit.edu 37 8 139164289 139164289 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:139164289C>A ENST00000395297.1 - 13 2599 c.2429G>T c.(2428-2430)gGa>gTa p.G810V NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 810 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGAGCAAGATCCTGGGGAACC 0.537000 HNSCC(54;0.14) 15 99 0.000219431 0.000238546 0.002450 1 0 ARAP3 64411 broad.mit.edu 37 5 141033932 141033932 + Missense_Mutation SNP A A G rs142227089 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:141033932A>G ENST00000239440.4 - 33 4285 c.4220T>C c.(4219-4221)gTg>gCg p.V1407A ARAP3_ENST00000508305.1_Missense_Mutation_p.V1238A|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.V1056A NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 1407 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TTCCTCATACACTGGCTCCTC 0.582000 10 91 0 0 0.006214 0 0 XRCC5 7520 broad.mit.edu 37 2 216986930 216986930 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:216986930A>G ENST00000392133.3 + 8 1098 c.637A>G c.(637-639)Ata>Gta p.I213V XRCC5_ENST00000392132.2_Missense_Mutation_p.I213V P13010 XRCC5_HUMAN X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 213 double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) AATGGTGATGATATCTTTAGA 0.383000 Non-homologous end-joining 14 49 0 0 0.001855 0 0 PPP1R12A 4659 broad.mit.edu 37 12 80226236 80226236 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:80226236G>A ENST00000450142.2 - 4 789 c.523C>T c.(523-525)Cgg>Tgg p.R175W PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R88W|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R175W|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R175W|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R175W NM_002480.2 NP_002471.1 O14974 MYPT1_HUMAN protein phosphatase 1, regulatory subunit 12A 175 contractile fiber protein binding|signal transducer activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1) 29 AGCATGATCCGTTCTTCTTCC 0.388000 21 114 0 0 0.008871 0 0 EYA3 2140 broad.mit.edu 37 1 28384547 28384547 + Translation_Start_Site SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:28384547T>C ENST00000373864.1 - 0 51 EYA3_ENST00000373871.3_De_novo_Start_InFrame|EYA3_ENST00000545175.1_De_novo_Start_OutOfFrame|EYA3_ENST00000540618.1_De_novo_Start_InFrame|EYA3_ENST00000436342.2_De_novo_Start_InFrame|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_De_novo_Start_InFrame Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) TGAGGACCAATATTTCTTTAT 0.328000 45 31 0 0 0.003610 0 0 GNAZ 2781 broad.mit.edu 37 22 23438557 23438557 + Silent SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr22:23438557T>C ENST00000248996.4 + 2 1341 c.675T>C c.(673-675)tgT>tgC p.C225C RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 225 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) TCATCTTCTGTGTGGAGCTCA 0.567000 44 205 0 0 0.003610 0 0 DLL4 54567 broad.mit.edu 37 15 41228746 41228746 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:41228746G>A ENST00000249749.5 + 9 1837 c.1561G>A c.(1561-1563)Gtg>Atg p.V521M NM_019074.3 NP_061947.1 Q9NR61 DLL4_HUMAN delta-like 4 (Drosophila) 521 blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway integral to membrane|plasma membrane calcium ion binding|Notch binding breast(3)|large_intestine(1) 4 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CGAGTTCCCCGTGGGCTTGCC 0.652000 7 13 0 0 0.003080 0 0 GFRA1 2674 broad.mit.edu 37 10 117849257 117849257 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:117849257A>T ENST00000439649.3 - 8 1544 c.1177T>A c.(1177-1179)Tta>Ata p.L393I GFRA1_ENST00000544592.1_Missense_Mutation_p.L277I|GFRA1_ENST00000355422.6_Missense_Mutation_p.L398I|GFRA1_ENST00000369236.1_Missense_Mutation_p.L393I NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 398 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) CTCACCTGTAAATTTGCACAC 0.547000 19 126 0 0 0.008871 0 0 INPP5A 3632 broad.mit.edu 37 10 134464009 134464009 + Splice_Site SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr10:134464009G>T ENST00000368594.3 + 4 583 c.306_splice c.e4+1 p.T102_splice INPP5A_ENST00000368593.3_Splice_Site_p.T102_splice NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 102 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) AGCACTTCACGGTGAGTCCCT 0.542000 62 70 3.74213e-36 5.33125e-36 0.003610 1 0 CLDN3 1365 broad.mit.edu 37 7 73183873 73183873 + Silent SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:73183873G>T ENST00000395145.2 - 1 727 c.507C>A c.(505-507)gcC>gcA p.A169A NM_001306.3 NP_001297.1 O15551 CLD3_HUMAN claudin 3 169 response to hypoxia integral to plasma membrane|tight junction structural molecule activity|transmembrane receptor activity kidney(1)|lung(1) 2 Lung NSC(55;0.159) GCAGCGCCGCGGCCGCCCAGC 0.701000 21 26 8.34094e-07 9.60285e-07 0.008871 1 0 EXT2 2132 broad.mit.edu 37 11 44228424 44228424 + Missense_Mutation SNP A A G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:44228424A>G ENST00000395673.3 + 10 1732 c.1676A>G c.(1675-1677)tAt>tGt p.Y559C EXT2_ENST00000533608.1_Missense_Mutation_p.Y526C|EXT2_ENST00000358681.4_Missense_Mutation_p.Y536C|EXT2_ENST00000343631.3_Missense_Mutation_p.Y526C NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 526 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 TTCTTCCCTTATGATGAAATC 0.413000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 28 52 0 0 0.006320 0 0 FAT3 120114 broad.mit.edu 37 11 92573756 92573756 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:92573756T>C ENST00000298047.6 + 17 10414 c.10397T>C c.(10396-10398)tTg>tCg p.L3466S FAT3_ENST00000409404.2_Missense_Mutation_p.L3466S|FAT3_ENST00000525166.1_Missense_Mutation_p.L3316S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3466 Cadherin 32. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACCAGCATCTTGCAGCTGGTG 0.398000 TCGA Ovarian(4;0.039) 12 28 0 0 0.001855 0 0 HIST1H3D 8351 broad.mit.edu 37 6 26197234 26197234 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:26197234T>A ENST00000377831.5 - 2 698 c.245A>T c.(244-246)gAt>gTt p.D82V HIST1H3D_ENST00000356476.2_Missense_Mutation_p.D82V NM_003530.3 NP_003521.2 P68431 H31_HUMAN histone cluster 1, H3d 82 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6) 14 all_hematologic(11;0.196) AAAACGCAGATCAGTCTTGAA 0.607000 18 88 0 0 0.004990 0 0 MYH13 8735 broad.mit.edu 37 17 10263357 10263357 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:10263357T>C ENST00000418404.3 - 6 728 c.565A>G c.(565-567)Acc>Gcc p.T189A MYH13_ENST00000252172.4_Missense_Mutation_p.T189A|MYH13_ENST00000570743.1_Missense_Mutation_p.T189A Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 189 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ACACGCTTGGTGTTCACAGTC 0.512000 15 57 0 0 0.007413 0 0 TIAM1 7074 broad.mit.edu 37 21 32638554 32638554 + Silent SNP T T G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr21:32638554T>G ENST00000286827.3 - 5 1206 c.735A>C c.(733-735)gcA>gcC p.A245A TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.A245A NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 245 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GCCCCCCGTTTGCTGTCACTC 0.547000 25 80 0 0 0.003954 0 0 PAPPA2 60676 broad.mit.edu 37 1 176563768 176563768 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr1:176563768G>T ENST00000367662.3 + 3 2192 c.1028G>T c.(1027-1029)tGc>tTc p.C343F PAPPA2_ENST00000367661.3_Missense_Mutation_p.C343F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 343 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTCTCCCTCTGCACCGACCGC 0.577000 14 55 6.31663e-08 7.49349e-08 0.003163 1 0 NOP9 161424 broad.mit.edu 37 14 24769788 24769788 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr14:24769788G>C ENST00000267425.3 + 2 515 c.422G>C c.(421-423)tGc>tCc p.C141S NOP9_ENST00000396802.3_Missense_Mutation_p.C141S NM_174913.1 NP_777573.1 NOP9 nucleolar protein TGTCACCGATGCGGGGTCCAT 0.567000 48 128 0 0 0.003610 0 0 GLUD2 2747 broad.mit.edu 37 X 120181945 120181945 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:120181945G>A ENST00000328078.1 + 1 484 c.407G>A c.(406-408)cGg>cAg p.R136Q NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 136 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) GAAGGCTACCGGGCCCAGCAC 0.592000 26 10 0 0 0.004656 0 0 GLIPR1 11010 broad.mit.edu 37 12 75892486 75892486 + Missense_Mutation SNP G G A rs3736392 by1000genomes TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr12:75892486G>A ENST00000266659.3 + 5 833 c.632G>A c.(631-633)cGa>cAa p.R211Q KRR1_ENST00000229214.4_3'UTR NM_006851.2 NP_006842.2 P48060 GLIP1_HUMAN GLI pathogenesis-related 1 211 R -> Q (in dbSNP:rs3736392). cellular lipid metabolic process extracellular region|integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 AACCGACAGCGAGACCAAGTC 0.323000 11 34 0 0 0.001855 0 0 GTF3C2 2976 broad.mit.edu 37 2 27550056 27550056 + Missense_Mutation SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:27550056C>G ENST00000359541.2 - 18 2934 c.2505G>C c.(2503-2505)gaG>gaC p.E835D GTF3C2_ENST00000264720.3_Missense_Mutation_p.E835D Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 835 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATGAATAGCCTCCAGCTGCA 0.542000 6 42 0 0 0.001168 0 0 PRDM14 63978 broad.mit.edu 37 8 70970925 70970925 + Missense_Mutation SNP G G C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:70970925G>C ENST00000276594.2 - 6 1537 c.1336C>G c.(1336-1338)Cgg>Ggg p.R446G NM_024504.3 NP_078780.1 Q9GZV8 PRD14_HUMAN PR domain containing 14 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) ATCCGAAGCCGGTCCCGCTTC 0.502000 28 64 0 0 0.008361 0 0 PTPN1 5770 broad.mit.edu 37 20 49195149 49195149 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr20:49195149G>A ENST00000371621.3 + 6 859 c.685G>A c.(685-687)Gat>Aat p.D229N PTPN1_ENST00000541713.1_Missense_Mutation_p.D156N NM_001278618.1|NM_002827.2 NP_001265547.1|NP_002818.1 P18031 PTN1_HUMAN protein tyrosine phosphatase, non-receptor type 1 229 Tyrosine-protein phosphatase. blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) CTGTCTGGCTGATACCTGCCT 0.587000 7 44 0 0 0.001984 0 0 MPEG1 219972 broad.mit.edu 37 11 58979531 58979531 + Nonsense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:58979531G>A ENST00000361050.3 - 1 893 c.808C>T c.(808-810)Cga>Tga p.R270* NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 270 MACPF. integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) GAGTTGGTTCGGTTTGAGAGG 0.532000 4 16 0 0 0.000602 0 0 NXPH1 30010 broad.mit.edu 37 7 8791022 8791022 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:8791022G>T ENST00000405863.1 + 3 1350 c.439G>T c.(439-441)Ggg>Tgg p.G147W NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.G30W NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 147 III. extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) TCATGGCAATGGGACATTTAG 0.393000 15 50 2.32078e-09 2.81745e-09 0.003163 1 0 PM20D2 135293 broad.mit.edu 37 6 89862895 89862895 + Nonsense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:89862895A>T ENST00000275072.4 + 3 843 c.748A>T c.(748-750)Aga>Tga p.R250* NM_001010853.1 NP_001010853.1 Q8IYS1 P20D2_HUMAN peptidase M20 domain containing 2 250 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1) 12 all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00813) ACCAACCTGGAGAGTTCATGG 0.353000 18 29 0 0 0.007413 0 0 ATP10A 57194 broad.mit.edu 37 15 25940059 25940059 + Missense_Mutation SNP G G A rs147432497 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr15:25940059G>A ENST00000356865.6 - 14 3106 c.2995C>T c.(2995-2997)Cgc>Tgc p.R999C NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 999 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AGGACGGAGCGGCACTGCTTG 0.597000 12 42 0 0 0.000978 0 0 KCNB2 9312 broad.mit.edu 37 8 73849954 73849954 + Missense_Mutation SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:73849954T>A ENST00000523207.1 + 3 2952 c.2364T>A c.(2362-2364)ttT>ttA p.F788L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 788 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CCCCCAGGTTTCCCAAGCAGA 0.537000 21 78 0 0 0.008871 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962848 73962848 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:73962848G>T ENST00000373468.1 - 3 2195 c.1544C>A c.(1543-1545)tCc>tAc p.S515Y KIAA2022_ENST00000055682.5_Missense_Mutation_p.S515Y Q5QGS0 K2022_HUMAN KIAA2022 515 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TTCCTCTTTGGAACCAACTGG 0.388000 5 7 3.59834e-05 3.96707e-05 0.001168 1 0 AGO2 27161 broad.mit.edu 37 8 141568597 141568597 + Missense_Mutation SNP C C A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:141568597C>A ENST00000220592.5 - 7 977 c.865G>T c.(865-867)Gcc>Tcc p.A289S AGO2_ENST00000519980.1_Missense_Mutation_p.A289S NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 TGGTGACTGGCGGGCCGCCGG 0.597000 65 84 9.65139e-37 1.3813e-36 0.003610 1 0 RFESD 317671 broad.mit.edu 37 5 94989858 94989858 + Missense_Mutation SNP A A T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr5:94989858A>T ENST00000458310.1 + 4 1583 c.252A>T c.(250-252)agA>agT p.R84S RFESD_ENST00000311364.4_Missense_Mutation_p.R31S|RFESD_ENST00000513950.2_Missense_Mutation_p.R31S|SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000380005.4_Missense_Mutation_p.R84S NM_001131065.1 NP_001124537.1 Q8TAC1 RFESD_HUMAN Rieske (Fe-S) domain containing 31 Rieske 1.|Rieske 2. 2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1) 6 all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162) all cancers(79;5.94e-17) AATCTGAAAGAATGACAGCTG 0.383000 8 34 0 0 0.004482 0 0 KIAA2026 158358 broad.mit.edu 37 9 6007399 6007399 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr9:6007399G>A ENST00000399933.3 - 1 388 c.389C>T c.(388-390)cCg>cTg p.P130L KIAA2026_ENST00000381461.2_Missense_Mutation_p.P130L NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 130 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) GGGCTGCTGCGGGAAGGCGCG 0.706000 24 19 0 0 0.002299 0 0 GABRQ 55879 broad.mit.edu 37 X 151806746 151806746 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:151806746G>A ENST00000370306.2 + 1 110 c.90G>A c.(88-90)ccG>ccA p.P30P NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 30 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) GTCCCATCCCGAAATTCCACT 0.642000 14 18 0 0 0.004007 0 0 SMYD1 150572 broad.mit.edu 37 2 88407935 88407935 + Missense_Mutation SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:88407935G>A ENST00000419482.2 + 9 1276 c.1191G>A c.(1189-1191)atG>atA p.M397I SMYD1_ENST00000444564.2_Missense_Mutation_p.M384I|SMYD1_ENST00000438570.1_Intron NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 TGGCCGTGATGCGGGCAGGGC 0.542000 29 36 0 0 0.002836 0 0 ZNF679 168417 broad.mit.edu 37 7 63721218 63721218 + Missense_Mutation SNP C C T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr7:63721218C>T ENST00000421025.1 + 4 442 c.173C>T c.(172-174)gCt>gTt p.A58V ZNF679_ENST00000255746.4_Missense_Mutation_p.A58V NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 58 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 ACAGGTATTGCTGTCTCTAAG 0.333000 14 49 0 0 0.002450 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1818367 1818367 + Missense_Mutation SNP G G T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr16:1818367G>T ENST00000250894.4 + 30 3884 c.3727G>T c.(3727-3729)Gtc>Ttc p.V1243F MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.V1237F NM_015133.3 NP_055948.2 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting protein 3 1243 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 GAAGTTCTTTGTCTCGGTGCC 0.652000 27 60 1.5548e-18 2.08196e-18 0.005443 1 0 ZZEF1 23140 broad.mit.edu 37 17 3926063 3926063 + Silent SNP C C G TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:3926063C>G ENST00000381638.2 - 44 7276 c.7152G>C c.(7150-7152)ctG>ctC p.L2384L NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2384 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 ACTTTTTCACCAGCAACTTCA 0.517000 15 44 0 0 0.002450 0 0 TIAM1 7074 broad.mit.edu 37 21 32582412 32582412 + Silent SNP C C G rs28520154 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr21:32582412C>G ENST00000286827.3 - 12 2808 c.2337G>C c.(2335-2337)acG>acC p.T779T TIAM1_ENST00000541036.1_Silent_p.T754T NM_003253.2 NP_003244.2 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 779 RBD. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 GCCGGACGACCGTCAGGGCAG 0.547000 12 40 0 0 0.000978 0 0 TTN 7273 broad.mit.edu 37 2 179650467 179650467 + Silent SNP G G A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr2:179650467G>A ENST00000589042.1 - 15 2597 c.2373C>T c.(2371-2373)atC>atT p.I791I TTN_ENST00000342175.6_Silent_p.I745I|TTN_ENST00000360870.5_Silent_p.I791I|TTN_ENST00000342992.6_Silent_p.I791I|TTN_ENST00000359218.5_Silent_p.I745I|TTN_ENST00000460472.2_Silent_p.I745I|TTN_ENST00000591111.1_Silent_p.I791I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 791 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) TAGTTTTCTTGATCTGCATTG 0.413000 12 66 0 0 0.001368 0 0 SI 6476 broad.mit.edu 37 3 164735374 164735374 + Frame_Shift_Del DEL C C - TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr3:164735374delC ENST00000264382.3 - 31 3783 c.3721delG c.(3721-3723)aafs p.E1241fs NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1241 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TCATATAATTCCCGAACCTCT 0.338 HNSCC(35;0.089) 24 22 --- --- --- --- LAMA4 3910 broad.mit.edu 37 6 112537599 112537601 + In_Frame_Del DEL GTT GTT - TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr6:112537599_112537601delGTT ENST00000230538.7 - 3 662_664 c.265_267delAAC c.(265-267)del p.N89del LAMA4_ENST00000431543.2_In_Frame_Del_p.N89del|LAMA4_ENST00000389463.4_In_Frame_Del_p.N89del|LAMA4_ENST00000522006.1_In_Frame_Del_p.N89del|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_In_Frame_Del_p.N89del NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 89 Laminin EGF-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.N89K(1) NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCAAACACTCGTTGGAATTGCCA 0.453 24 56 --- --- --- --- XKR5 389610 broad.mit.edu 37 8 6673270 6673270 + RNA DEL A A - TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr8:6673270delA ENST00000518724.1 - 0 1071 Q6UX68 XKR5_HUMAN XK, Kell blood group complex subunit-related family, member 5 integral to membrane endometrium(1)|large_intestine(1)|lung(1) 3 STAD - Stomach adenocarcinoma(24;0.0984) READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166) AGCCCATTGTAAAAAAAAAAA 0.502 OREG0018511 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 6 --- --- --- --- INSC 387755 broad.mit.edu 37 11 15197593 15197601 + In_Frame_Del DEL CAGTGCTGT CAGTGCTGT - rs61745109 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:15197593_15197601delCAGTGCTGT ENST00000379554.3 + 3 550_558 c.504_512delCAGTGCTGT c.(502-513)tac>ta p.YSAV168del INSC_ENST00000530161.1_In_Frame_Del_p.YSAV121del|INSC_ENST00000525218.1_In_Frame_Del_p.YSAV121del|INSC_ENST00000528567.1_In_Frame_Del_p.YSAV121del|INSC_ENST00000379556.3_In_Frame_Del_p.YSAV121del|INSC_ENST00000424273.1_In_Frame_Del_p.YSAV121del NM_001031853.3 NP_001027024.3 Q1MX18 INSC_HUMAN inscuteable homolog (Drosophila) 168 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 TCAGCGAGTACAGTGCTGTCAGCAGGAAC 0.612 7 12 --- --- --- --- ZNF705E 100131539 broad.mit.edu 37 11 71532575 71532576 + RNA INS - - T TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr11:71532575_71532576insT ENST00000525199.1 - 0 18_19 CTTGCAGACACTTTAGGCACTA 0.426 24 56 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7576858 7576858 + Frame_Shift_Del DEL G G - TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr17:7576858delG ENST00000420246.2 - 9 1120 c.988delC c.(988-990)ttfs p.L330fs TP53_ENST00000269305.4_Frame_Shift_Del_p.L330fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L330fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.L330fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.L330fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 330 Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization. L -> H (in sporadic cancers; somatic mutation).|L -> P (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.L330fs*15(1)|p.?(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGTACCTGAAGGGTGAAATAT 0.453 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 27 70 --- --- --- --- CARM1 10498 broad.mit.edu 37 19 11018818 11018818 + Frame_Shift_Del DEL C C - TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr19:11018818delC ENST00000327064.4 + 3 640 c.450delC c.(448-450)ttfs p.F150fs CARM1_ENST00000344150.4_Frame_Shift_Del_p.F150fs NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 150 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TGCAGTACTTCCAGGTGGGTT 0.652 32 27 --- --- --- --- C21orf91 54149 broad.mit.edu 37 21 19165780 19165781 + Frame_Shift_Ins INS - - A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chr21:19165780_19165781insA ENST00000284881.4 - 5 935_936 c.845_846insT c.(844-846)ccafs p.P282fs C21orf91_ENST00000400559.3_Frame_Shift_Ins_p.P281fs|C21orf91_ENST00000400558.3_3'UTR NM_001100420.1|NM_017447.3 NP_001093890.1|NP_059143.3 Q9NYK6 EURL_HUMAN chromosome 21 open reading frame 91 282 endometrium(2)|large_intestine(2)|lung(4)|ovary(1) 9 Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929) GCCCTACTTGCAGACATGGTAA 0.475 8 22 --- --- --- --- FAM9A 171482 broad.mit.edu 37 X 8764319 8764320 + Frame_Shift_Ins INS - - T rs1985393 TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:8764319_8764320insT ENST00000543214.1 - 6 612_613 c.477_478insA c.(475-480)aaaactfs p.T160fs FAM9A_ENST00000381003.3_Frame_Shift_Ins_p.T160fs NM_001171186.1 NP_001164657.1 Q8IZU1 FAM9A_HUMAN family with sequence similarity 9, member A 160 nucleolus endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 18 Hepatocellular(5;0.219) CTTTTTAGTTGTTTTTTTTTCA 0.292 5 2 --- --- --- --- APOO 79135 broad.mit.edu 37 X 23897090 23897091 + Frame_Shift_Ins INS - - GCTGGCTC TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx c0b6813d-4b3e-479e-81a7-1e5c2de89b0d a4fef570-a560-4482-b7da-8bbe800c4b03 g.chrX:23897090_23897091insGCTGGCTC ENST00000379226.4 - 3 409_410 c.178_179insGAGCCAGC c.(178-180)tgafs p.*60fs APOO_ENST00000379220.3_Frame_Shift_Ins_p.*60fs NM_024122.4 NP_077027.1 Q9BUR5 APOO_HUMAN apolipoprotein O 60 lipid transport high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1) 9 GCTTTCTTCAAGCTGGCTCCTT 0.441 14 38 --- --- --- ---