Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut LRRC17 10234 broad.mit.edu 37 7 102574540 102574540 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:102574540C>T uc003vau.3 + 1 569 c.180C>T c.(178-180)ctC>ctT p.L60L FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Silent_p.L60L NM_001031692 NP_001026862 Q8N6Y2 LRC17_HUMAN Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA. 60 bone marrow development|negative regulation of osteoclast differentiation|ossification extracellular space NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 17 ACACATATCTCCATGAGAAAT 0.522000 28 34 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077217 19077217 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:19077217G>A uc001mph.3 - 1 821 c.733C>T c.(733-735)Cta>Tta p.L245L MRGPRX2_uc021qer.1_Silent_p.L245L NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA. 245 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding p.F244L(2) NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CATAATATTAGGAACCACTGA 0.498000 45 25 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96246218 96246218 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:96246218C>T uc001vmk.3 - 15 2512 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K DZIP1_uc001vmj.3_Missense_Mutation_p.E30K|DZIP1_uc001vml.3_Missense_Mutation_p.E535K NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 554 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) CCCAAGGTTTCCAGTTTCTCC 0.348000 52 31 0 0 1 0 0 ZNF226 7769 broad.mit.edu 37 19 44680499 44680499 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:44680499C>T uc002oys.3 + 5 1264 c.1084C>T c.(1084-1086)Cct>Tct p.P362S ZNF226_uc002oyp.3_Missense_Mutation_p.P362S|ZNF226_uc002oyq.3_Missense_Mutation_p.P245S|ZNF226_uc002oyr.3_Missense_Mutation_p.P245S|ZNF226_uc002oyt.3_Missense_Mutation_p.P362S NM_001032372 NP_001027545 Q9NYT6 ZN226_HUMAN Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA. 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding Prostate(69;0.0352)|all_neural(266;0.202) GGCAGAGAAACCTTATAATTG 0.473000 51 17 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23908553 23908553 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:23908553G>A uc001uon.2 - 9 10051 c.9462C>T c.(9460-9462)ccC>ccT p.P3154P SACS_uc001uoo.2_Silent_p.P3007P|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 3154 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TGATGAGAAGGGGCAATCCCT 0.348000 16 9 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128480651 128480651 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:128480651C>T uc003vnz.4 + 9 1808 c.1599C>T c.(1597-1599)ttC>ttT p.F533F FLNC_uc003voa.4_Silent_p.F533F NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 533 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ATGGTGTGTTCGAGTGCGAGT 0.617000 144 43 0 0 1 0 0 TRHR 7201 broad.mit.edu 37 8 110099909 110099909 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:110099909G>A uc003ymz.4 + 0 257 c.168G>A c.(166-168)atG>atA p.M56I NM_003301 NP_003292 P34981 TRFR_HUMAN Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA. 56 integral to plasma membrane thyrotropin-releasing hormone receptor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) CCAAGCACATGAGGACCCCCA 0.507000 50 60 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141460033 141460033 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:141460033C>T uc002tvj.1 - 37 7085 c.6113G>A c.(6112-6114)gGa>gAa p.G2038E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2038 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.G2038R(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCATGCTATTCCCATGCTTAC 0.423000 TSP Lung(27;0.18) 40 29 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717515 13717515 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:13717515G>A uc001rbt.2 - 12 2836 c.2657C>T c.(2656-2658)tCc>tTc p.S886F NM_000834 NP_000825 Q13224 NMDE2_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA. 886 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding p.S886S(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TGCGGTGGGGGAGTTCATTAC 0.567000 84 47 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50705382 50705383 + Missense_Mutation DNP GA AT AT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:50705382_50705383GA>AT uc002lfe.2 + 8 2085_2086 c.1469_1470GA>AT c.(1468-1470)gga>gAT p.G490D DCC_uc010xdr.1_Missense_Mutation_p.G338D|DCC_uc010dpf.2_Missense_Mutation_p.G145D NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 490 Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane p.V489L(1) 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) CTCACTGTGGGAAACCTGAAGC 0.480000 38 15 0 0 1 0 0 LOC399753 399753 broad.mit.edu 37 10 49218563 49218563 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:49218563G>A uc001jgd.3 - 7 1735 c.1576C>T c.(1576-1578)Cgc>Tgc p.R526C DQ588224_uc001jge.1_5'Flank Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA. TGGATCCAGCGTTCCTTCTCT 0.547000 26 4 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113739293 113739293 + Missense_Mutation SNP T G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:113739293T>G uc001vsu.3 + 18 2320 c.2320T>G c.(2320-2322)Ttc>Gtc p.F774V MCF2L_uc001vsq.3_Missense_Mutation_p.F774V|MCF2L_uc010tjr.2_Missense_Mutation_p.F717V|MCF2L_uc001vsr.3_Missense_Mutation_p.F721V|MCF2L_uc001vss.4_Missense_Mutation_p.F715V|MCF2L_uc010tjs.2_Missense_Mutation_p.F715V|MCF2L_uc001vst.1_Missense_Mutation_p.F679V NM_024979 NP_079255 O15068 MCF2L_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA. 747 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CTGCCCGTTTTTCCAGGTTTG 0.512000 39 23 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30886159 30886159 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:30886159G>A uc003aid.2 - 11 1256 c.1156C>T c.(1156-1158)Ccc>Tcc p.P386S SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Missense_Mutation_p.P371S|SEC14L4_uc003aif.2_Silent_p.F346F NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 386 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) GCCTTGTCGGGAAGCAGCACC 0.587000 32 17 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140731312 140731312 + Silent SNP G T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140731312G>T uc003ljo.2 + 0 1485 c.1485G>T c.(1483-1485)cgG>cgT p.R495R PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.R495R NM_018922 NP_061745 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA. 501 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGCCGCGGGAGCTGTTGT 0.652000 28 8 0.00448238 0.00449987 1 1 0 GPR110 266977 broad.mit.edu 37 6 46977077 46977077 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:46977077C>T uc003oyt.3 - 10 2293 c.2094G>A c.(2092-2094)atG>atA p.M698I GPR110_uc011dwl.2_Missense_Mutation_p.M386I NM_153840 NP_722582 Q5T601 GP110_HUMAN Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA. 698 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CAACAGCCATCATCAAATGCT 0.468000 12 17 0 0 1 0 0 UBXN2B 137886 broad.mit.edu 37 8 59329508 59329508 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:59329508C>T uc003xtl.3 + 1 306 c.184C>T c.(184-186)Caa>Taa p.Q62* NM_001077619 NP_001071087 Q14CS0 UBX2B_HUMAN Homo sapiens UBX domain protein 2B (UBXN2B), mRNA. 62 Golgi apparatus|cytosol|endoplasmic reticulum|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 GACACCACCTCAACGGTAAGT 0.348000 13 12 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78474955 78474955 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:78474955C>T uc002bdh.3 - 6 953 c.747G>A c.(745-747)atG>atA p.M249I ACSBG1_uc010umx.2_Missense_Mutation_p.M7I|ACSBG1_uc010umw.2_Missense_Mutation_p.M245I|ACSBG1_uc010umy.2_Missense_Mutation_p.M142I NM_015162 NP_055977 Q96GR2 ACBG1_HUMAN Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA. 249 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 TGAATTCCTCCATCTGTAGCC 0.607000 31 15 0 0 1 0 0 CAPN12 147968 broad.mit.edu 37 19 39228260 39228260 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:39228260G>A uc002ojd.1 - 8 1293 c.984C>T c.(982-984)ttC>ttT p.F328F CAPN12_uc010egd.1_5'Flank|CAPN12_uc002ojc.1_5'Flank NM_144691 NP_653292 Q6ZSI9 CAN12_HUMAN Homo sapiens calpain 12 (CAPN12), mRNA. 328 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(60;2.87e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) AATGGAGGAGGAAGTCCCGCA 0.677000 11 9 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196759894 196759894 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:196759894C>T uc002utj.4 - 29 4803 c.4702G>A c.(4702-4704)Gat>Aat p.D1568N NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1568 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GCCAGCAAATCATTGTAATCT 0.323000 27 10 0 0 1 0 0 GPR114 221188 broad.mit.edu 37 16 57601437 57601437 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:57601437C>T uc002ely.3 + 7 1278 c.755C>T c.(754-756)tCc>tTc p.S252F GPR114_uc002elx.4_Missense_Mutation_p.S252F|GPR114_uc010vhr.2_Missense_Mutation_p.S252F NM_153837 NP_722579 Q8IZF4 GP114_HUMAN Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA. 252 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1) 23 ACGTACATCTCCCTCGTGGGC 0.612000 24 11 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43649360 43649360 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:43649360C>T uc021omk.1 + 3 719 c.573C>T c.(571-573)agC>agT p.S191S EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Silent_p.S180S|WDR65_uc001ciq.2_Silent_p.S191S|WDR65_uc001cip.2_Silent_p.S191S NM_001195831 NP_001182760 Q96MR6 WDR65_HUMAN Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA. 191 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGCAAACCAGCTTTCAGAGGG 0.488000 81 30 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207297306 207297306 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:207297306C>T uc001hfo.3 + 4 662 c.468C>T c.(466-468)gtC>gtT p.V156V NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 156 Sushi 2. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 GTTGTGAAGTCCAAGATAGAG 0.348000 4 10 0 0 1 0 0 NDNF 79625 broad.mit.edu 37 4 121966865 121966865 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:121966865G>A uc003idq.1 - 1 655 c.128C>T c.(127-129)tCg>tTg p.S43L NM_024574 NP_078850 Q8TB73 CD031_HUMAN Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA. 43 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 AATTACTGACGAATCATGAAA 0.428000 28 19 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167921597 167921597 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:167921597C>T uc011cjq.1 - 2 346 c.289G>A c.(289-291)Gat>Aat p.D97N SPOCK3_uc021xuf.1_Missense_Mutation_p.D88N|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Missense_Mutation_p.D88N|SPOCK3_uc011cjs.1_Missense_Mutation_p.D37N|SPOCK3_uc003irj.1_Missense_Mutation_p.D85N|SPOCK3_uc011cjt.1_5'UTR|SPOCK3_uc011cjp.2_Missense_Mutation_p.D85N|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.D85N|SPOCK3_uc011cjw.1_Non-coding_Transcript NM_001204353 NP_001191282 Q9BQ16 TICN3_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA. 88 signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) AAGCATGGATCCTTAGCTGGA 0.368000 31 19 0 0 1 0 0 PCM1 5108 broad.mit.edu 37 8 17823906 17823907 + Missense_Mutation DNP CC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:17823906_17823907CC>TT uc022asj.1 + 18 3284_3285 c.3262_3263CC>TT c.(3262-3264)cct>TTt p.P1088F PCM1_uc003wyi.4_Missense_Mutation_p.P1049F|PCM1_uc011kyh.2_Missense_Mutation_p.P1049F|PCM1_uc003wyj.4_Missense_Mutation_p.P1050F NM_006197 NP_006188 Q15154 PCM1_HUMAN Homo sapiens pericentriolar material 1 (PCM1), mRNA. 1049 G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) TGTTGCATCTCCTCAAGTACAC 0.381000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 67 29 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 32209506 32209506 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:32209506C>T uc003tco.2 - 2 235 c.199G>A c.(199-201)Gag>Aag p.E67K NM_001191058 NP_001177987 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 3, mRNA. 0 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CTTGGCTTCTCCTTGACATTC 0.517000 132 46 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88696903 88696903 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:88696903C>T uc010voz.2 + 17 2849 c.2649C>T c.(2647-2649)gaC>gaT p.D883D ZC3H18_uc002fky.3_Silent_p.D859D|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_Silent_p.D129D NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA. 859 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) GTTCTCGGGACCGGAAGTCAG 0.622000 23 9 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138433924 138433924 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:138433924C>T uc003vuf.3 - 10 1406 c.1168G>A c.(1168-1170)Gag>Aag p.E390K ATP6V0A4_uc003vug.3_Missense_Mutation_p.E390K|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.E390K NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 390 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity p.E390K(2) NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GGGTTTATCTCCCGGTAGCTG 0.478000 73 96 0 0 1 0 0 TNPO1 3842 broad.mit.edu 37 5 72189461 72189461 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:72189461C>T uc003kck.4 + 17 2221 c.2074C>T c.(2074-2076)Cga>Tga p.R692* TNPO1_uc011csj.1_Nonsense_Mutation_p.R642*|TNPO1_uc003kci.4_Nonsense_Mutation_p.R684*|TNPO1_uc003kcg.4_Nonsense_Mutation_p.R684* NM_002270 NP_694858 Q92973 TNPO1_HUMAN Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA. 692 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) GCCAGAAGTTCGACAGAGTTC 0.378000 56 39 0 0 1 0 0 MST1P9 11223 broad.mit.edu 37 1 17087530 17087530 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:17087530C>T uc010ock.2 - 1 135 c.135G>A c.(133-135)gcG>gcA p.A45A CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'Flank Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 CGGGCACCACCGCATGTAGCA 0.632000 77 22 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30955419 30955419 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:30955419C>T uc021vfn.1 - 18 1844 c.1812G>A c.(1810-1812)ggG>ggA p.G604G CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.G600G NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 604 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TGATGAAGATCCCTCTGAGGA 0.617000 11 6 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164246548 164246548 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:164246548C>T uc003iqm.2 - 2 1527 c.1062G>A c.(1060-1062)acG>acA p.T354T NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Silent_p.T111T NM_000909 NP_000900 P25929 NPY1R_HUMAN Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA. 354 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CTGTGTGCATCGTGGACATGG 0.378000 76 36 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40376728 40376728 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:40376728C>T uc002omp.4 - 23 11702 c.11694G>A c.(11692-11694)ggG>ggA p.G3898G NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 3898 extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TGCTCAGGTTCCCACCACCCA 0.587000 86 22 0 0 1 0 0 IRAK3 11213 broad.mit.edu 37 12 66638963 66638963 + Missense_Mutation SNP G A A rs146885838 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:66638963G>A uc001sth.3 + 10 1337 c.1235G>A c.(1234-1236)cGg>cAg p.R412Q IRAK3_uc010ssy.2_Missense_Mutation_p.R351Q NM_007199 NP_009130 Q9Y616 IRAK3_HUMAN Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA. 412 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan cytoplasm|nucleus ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity p.R412Q(2) breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(28;0.0203) CCCTGCCCTCGGAATTTCTCT 0.478000 62 42 0 0 1 0 0 ACRV1 56 broad.mit.edu 37 11 125548100 125548100 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:125548100G>A uc001qcs.3 - 1 263 c.145C>T c.(145-147)Cct>Tct p.P49S ACRV1_uc001qcl.3_Intron|ACRV1_uc001qcn.3_Intron|ACRV1_uc001qcr.3_Missense_Mutation_p.P49S NM_001612 NP_001603 P26436 ASPX_HUMAN Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA. 49 multicellular organismal development acrosomal vesicle kidney(1)|large_intestine(3)|lung(2) 6 all_hematologic(175;0.177) Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713) GCATCAGAAGGGTTTTCAAGT 0.458000 40 27 0 0 1 0 0 TMC7 79905 broad.mit.edu 37 16 19020617 19020617 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:19020617G>A uc002dfp.2 + 1 321 c.191G>A c.(190-192)gGa>gAa p.G64E TMC7_uc010vao.1_Missense_Mutation_p.G64E|TMC7_uc002dfq.3_Missense_Mutation_p.G64E|TMC7_uc010vap.2_5'UTR NM_024847 NP_079123 Q7Z402 TMC7_HUMAN Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA. 64 integral to membrane p.S63N(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 28 AAGCAAAGCGGAACTTTGCTA 0.502000 29 17 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17447143 17447143 + Missense_Mutation SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:17447143A>G uc002zlw.3 - 5 1243 c.1135T>C c.(1135-1137)Tcc>Ccc p.S379P GAB4_uc010gqs.1_3'UTR NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA. 379 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) ACACCCTGGGAATCATCGCCT 0.592000 20 15 0 0 1 0 0 CDCA2 157313 broad.mit.edu 37 8 25364179 25364179 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:25364179C>T uc003xep.1 + 14 2474 c.1997C>T c.(1996-1998)tCc>tTc p.S666F DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.S651F|CDCA2_uc003xer.1_Missense_Mutation_p.S329F NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN Homo sapiens cell division cycle associated 2 (CDCA2), mRNA. 666 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) ATAAAAAGTTCCTCATCGCTT 0.313000 43 26 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370111 35370111 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:35370111G>A uc001byc.3 - 0 874 c.874C>T c.(874-876)Cca>Tca p.P292S NM_001080418 NP_001073887 O95886 DLGP3_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA. 292 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) GACCCATCTGGACCCTCCAGG 0.647000 85 26 0 0 1 0 0 NXNL1 115861 broad.mit.edu 37 19 17571379 17571379 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:17571379G>A uc002ngs.3 - 0 347 c.300C>T c.(298-300)ttC>ttT p.F100F NM_138454 NP_612463 Q96CM4 NXNL1_HUMAN Homo sapiens nucleoredoxin-like 1 (NXNL1), mRNA. 100 Thioredoxin. cell redox homeostasis nuclear outer membrane central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 6 CAAAGGGCAGGAAAAGCCATT 0.577000 26 18 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151970953 151970953 + Splice_Site SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:151970953C>T uc003wla.3 - 7 1069 c.850_splice c.e7-1 p.R284_splice NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 284 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) ATGCACATCGCTGAAAGGGGT 0.393000 N medulloblastoma 53 4 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155237263 155237263 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:155237263G>A uc004fnv.1 + 7 1142 c.963G>A c.(961-963)ggG>ggA p.G321G IL9R_uc010nvn.2_Silent_p.G300G|IL9R_uc004fnu.1_Intron NM_002186 NP_002177 Q01113 IL9R_HUMAN Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA. 321 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) TACACAATGGGAACTTCCAGG 0.572000 41 25 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3970484 3970484 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:3970484G>A uc002fxe.3 - 26 4192 c.4128C>T c.(4126-4128)tcC>tcT p.S1376S ZZEF1_uc002fxi.3_5'Flank|ZZEF1_uc002fxj.1_5'UTR NM_015113 NP_055928 O43149 ZZEF1_HUMAN Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA. 1376 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 CATCTGCCAAGGAATAAACCT 0.398000 5 11 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140389344 140389344 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140389344G>A uc003lii.3 + 3 3451 c.2846G>A c.(2845-2847)gGa>gAa p.G949E PCDHAC2_uc003lha.2_Missense_Mutation_p.G628E|PCDHAC2_uc003lhb.2_Missense_Mutation_p.G892E|PCDHAC2_uc003lhd.2_Missense_Mutation_p.G890E|PCDHAC2_uc003lhf.2_Missense_Mutation_p.G892E|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Missense_Mutation_p.G889E|PCDHAC2_uc003lhl.2_Missense_Mutation_p.G878E|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Missense_Mutation_p.G892E|PCDHAC2_uc003lhn.2_Missense_Mutation_p.G628E|PCDHAC2_uc003lhq.2_Missense_Mutation_p.G879E|PCDHAC2_uc003lhs.2_Missense_Mutation_p.G892E|PCDHAC2_uc003lhu.2_Missense_Mutation_p.G892E|PCDHAC2_uc003lhw.2_Missense_Mutation_p.G627E|PCDHAC2_uc003lhx.2_Missense_Mutation_p.G890E|PCDHAC2_uc003lia.2_Missense_Mutation_p.G891E|PCDHAC2_uc003lic.2_Missense_Mutation_p.G883E|PCDHAC2_uc003lif.2_Missense_Mutation_p.G892E|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Missense_Mutation_p.G905E NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 949 4 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTATCCCAGGATCTCCTGCA 0.498000 20 16 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98072976 98072976 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:98072976C>T uc011bgv.2 + 0 279 c.279C>T c.(277-279)tcC>tcT p.S93S NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 GAATTATTTCCCTGTATGAAT 0.433000 153 71 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103216072 103216072 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:103216072G>A uc022ajr.1 - 28 4386 c.4226C>T c.(4225-4227)tCc>tTc p.S1409F RELN_uc022ajq.1_Missense_Mutation_p.S1409F|RELN_uc010liz.3_Missense_Mutation_p.S1409F NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1409 EGF-like 3. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACAAGGCTCGGATATGTACAC 0.478000 62 16 0 0 1 0 0 TRBV3-1 28619 broad.mit.edu 37 7 142008704 142008704 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:142008704G>A uc003vxf.3 + 1 226 c.177G>A c.(175-177)aaG>aaA p.K59K TRBV2_uc011kro.1_Intron|TRBV3-1_uc022amz.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; AGGACTCTAAGAAATTTCTGA 0.363000 109 24 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118495748 118495748 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:118495748C>T uc001ptr.2 + 5 807 c.454C>T c.(454-456)Cct>Tct p.P152S PHLDB1_uc010ryh.1_Missense_Mutation_p.P152S|PHLDB1_uc001pts.3_Missense_Mutation_p.P152S|PHLDB1_uc001ptt.3_Missense_Mutation_p.P152S|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_5'Flank NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA. 152 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) GGGCCGAGCCCCTGGGCCCCC 0.612000 50 34 0 0 1 0 0 ELAVL2 1993 broad.mit.edu 37 9 23731111 23731111 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:23731111C>T uc003zpu.3 - 2 517 c.242G>A c.(241-243)gGa>gAa p.G81E ELAVL2_uc003zps.3_Missense_Mutation_p.G81E|ELAVL2_uc003zpt.3_Missense_Mutation_p.G81E|ELAVL2_uc003zpv.3_Missense_Mutation_p.G81E|ELAVL2_uc003zpw.3_Missense_Mutation_p.G81E NM_004432 NP_004423 Q12926 ELAV2_HUMAN Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA. 81 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding p.L80L(1) breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) AAAGCCATATCCCAAGCTCTG 0.378000 11 7 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55955504 55955504 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:55955504G>A uc010qhy.1 - 11 1654 c.1259C>T c.(1258-1260)tCg>tTg p.S420L PCDH15_uc010qhq.2_Missense_Mutation_p.S420L|PCDH15_uc010qhr.2_Missense_Mutation_p.S415L|PCDH15_uc021pqv.1_Missense_Mutation_p.S415L|PCDH15_uc021pqw.1_Missense_Mutation_p.S420L|PCDH15_uc010qht.2_Missense_Mutation_p.S415L|PCDH15_uc021pqx.1_Missense_Mutation_p.S415L|PCDH15_uc001jjv.1_Missense_Mutation_p.S393L|PCDH15_uc021pqy.1_Missense_Mutation_p.S415L|PCDH15_uc021pqz.1_Missense_Mutation_p.S393L|PCDH15_uc010qhv.1_Missense_Mutation_p.S415L|PCDH15_uc010qhw.1_Missense_Mutation_p.S378L|PCDH15_uc010qhx.1_Missense_Mutation_p.S415L|PCDH15_uc010qhz.1_Missense_Mutation_p.S415L|PCDH15_uc010qia.1_Missense_Mutation_p.S393L|PCDH15_uc001jju.1_Missense_Mutation_p.S415L|PCDH15_uc010qib.1_Missense_Mutation_p.S393L|PCDH15_uc001jjw.3_Missense_Mutation_p.S415L NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 415 Cadherin 4. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GAGACTGTCCGAAATGGTTGC 0.373000 HNSCC(58;0.16) 53 24 0 0 1 0 0 ALKBH4 54784 broad.mit.edu 37 7 102097854 102097854 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:102097854C>T uc003uzl.3 - 2 934 c.896G>A c.(895-897)gGa>gAa p.G299E ALKBH4_uc003uzm.3_Missense_Mutation_p.G226E NM_017621 NP_060091 Q9NXW9 ALKB4_HUMAN Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA. 299 cytoplasm|nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(5)|skin(2) 8 CACGGGTCTTCCCTGGAAGGA 0.607000 27 66 0 0 1 0 0 SDC1 6382 broad.mit.edu 37 2 20402566 20402566 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:20402566G>A uc002rdo.1 - 4 1193 c.894C>T c.(892-894)gcC>gcT p.A298A SDC1_uc002rdp.1_Silent_p.A298A|SDC1_uc010exv.3_Intron NM_002997 NP_002988 P18827 SDC1_HUMAN Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA. 298 lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2) 21 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) GCTTCTGGTAGGCCCCGCCGT 0.597000 101 54 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86259046 86259047 + Missense_Mutation DNP CC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:86259046_86259047CC>TT uc002blv.1 + 19 5797_5798 c.5627_5628CC>TT c.(5626-5628)tcc>tTT p.S1876F AKAP13_uc002blu.1_Missense_Mutation_p.S1880F|AKAP13_uc010bnf.1_Missense_Mutation_p.S497F|AKAP13_uc002blw.1_Missense_Mutation_p.S343F|AKAP13_uc002blx.1_Missense_Mutation_p.S121F NM_007200 NP_009131 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA. 1876 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CGTCCTCGGTCCGCAGTCCTCC 0.530000 45 20 0 0 1 0 0 POU2AF1 5450 broad.mit.edu 37 11 111228346 111228346 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:111228346C>T uc001plg.4 - 3 535 c.280G>A c.(280-282)Gcc>Acc p.A94T NM_006235 NP_006226 Q16633 OBF1_HUMAN Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA. 94 humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding|transcription coactivator activity breast(1)|kidney(2)|lung(2) 5 all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389) Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364) TGCAGGGTGGCCGGGGTGGGC 0.627000 T BCL6 NHL 16 21 0 0 1 0 0 PKP1 5317 broad.mit.edu 37 1 201287835 201287835 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:201287835C>T uc001gwd.3 + 5 1395 c.1144C>T c.(1144-1146)Ccc>Tcc p.P382S PKP1_uc001gwe.3_Missense_Mutation_p.P382S|PKP1_uc009wzm.3_5'UTR NM_000299 NP_000290 Q13835 PKP1_HUMAN Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA. 382 cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development desmosome|intermediate filament|nucleus intermediate filament binding|signal transducer activity|structural constituent of epidermis NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1) 22 CGTCATCATTCCCTTCTCTGG 0.587000 21 6 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143292979 143292979 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:143292979G>A uc003evn.3 - 7 1160 c.951C>T c.(949-951)ttC>ttT p.F317F NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA. 317 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity p.L318fs*45(1) breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 AAGAAAGCAGGAAAAACAGGC 0.498000 31 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071592 9071592 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:9071592G>A uc002mkp.3 - 2 16058 c.15854C>T c.(15853-15855)cCc>cTc p.P5285L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5287 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P5285H(3)|p.P918H(1)|p.P5285P(1) 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 TGTGTCCAAGGGAAGGGTACT 0.517000 47 31 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166929999 166929999 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:166929999C>T uc002udo.4 - 2 360 c.133G>A c.(133-135)Gac>Aac p.D45N SCN1A_uc010fpk.3_Missense_Mutation_p.D45N|SCN1A_uc021vsb.1_Missense_Mutation_p.D45N NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 45 voltage-gated sodium channel complex voltage-gated sodium channel activity p.D45D(1) NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCATTTTCGTCGTCATCTTTT 0.443000 131 45 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8966742 8966742 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:8966742C>T uc002mkp.3 - 80 43415 c.43211G>A c.(43210-43212)aGa>aAa p.R14404K MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R1204K|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 14502 Missing (in Ref. 3; AAK74120). 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 GATGGCAACTCTGTCTACTCT 0.557000 7 4 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890692 229890692 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:229890692C>T uc002vpr.4 - 2 447 c.409G>A c.(409-411)Gaa>Aaa p.E137K PID1_uc002vps.4_Missense_Mutation_p.E135K|PID1_uc002vpt.4_Missense_Mutation_p.E104K|PID1_uc002vpu.4_Missense_Mutation_p.E55K NM_001100818 NP_001094288 Q7Z2X4 PCLI1_HUMAN Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA. 137 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) GGCCGGATTTCCAGGAGGGCA 0.557000 25 37 0 0 1 0 0 EEPD1 80820 broad.mit.edu 37 7 36194646 36194646 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:36194646C>T uc003tfa.3 + 1 1353 c.713C>T c.(712-714)cCc>cTc p.P238L NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA. 238 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 CCAGGGGGGCCCACCCAGATT 0.662000 50 13 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55844564 55844564 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:55844564C>T uc002eim.3 - 10 1288 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K CES1_uc002eil.3_Missense_Mutation_p.E395K|CES1_uc002ein.3_Missense_Mutation_p.E393K NM_001025194 NP_001020365 P23141 EST1_HUMAN Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA. 394 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GGAATCAGTTCCTTAGCAATG 0.483000 93 45 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130784568 130784568 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:130784568C>T uc001qgk.4 - 0 1815 c.1267G>A c.(1267-1269)Gag>Aag p.E423K SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.E423K|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN Homo sapiens sorting nexin 19 (SNX19), mRNA. 423 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) TCCTCAGCCTCTGCTCCTTCA 0.552000 29 20 0 0 1 0 0 MFSD4 148808 broad.mit.edu 37 1 205554120 205554120 + Splice_Site SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:205554120G>A uc001hcv.4 + 5 1061 c.975_splice c.e5+1 p.T325_splice MFSD4_uc010prk.2_Splice_Site_p.T238_splice|MFSD4_uc010prl.2_Splice_Site|MFSD4_uc010prm.2_Splice_Site_p.T270_splice NM_181644 NP_857595 Q8N468 MFSD4_HUMAN Homo sapiens major facilitator superfamily domain containing 4 (MFSD4), mRNA. 325 transmembrane transport integral to membrane central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TGGGTTGACGGTGAGCCTGCC 0.587000 OREG0014158 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 47 22 0 0 1 0 0 LOC644669 644669 broad.mit.edu 37 18 15323347 15323347 + RNA SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:15323347T>C uc002ktd.1 - 2 c.112A>G Homo sapiens ankyrin repeat domain 30B pseudogene (LOC644669), non-coding RNA. CCAATAAAAGTGGTGTGTGGC 0.303000 5 3 0 0 1 0 0 KIAA0317 9870 broad.mit.edu 37 14 75130447 75130447 + Silent SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:75130447A>G uc001xqb.3 - 19 2953 c.2448T>C c.(2446-2448)ggT>ggC p.G816G NM_001039479 NP_001034568 O15033 K0317_HUMAN Homo sapiens KIAA0317 (KIAA0317), mRNA. 816 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|intracellular ubiquitin-protein ligase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.00404) AGCCCTCGCAACCCTCGCTGA 0.547000 39 37 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60766297 60766297 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:60766297G>A uc002jad.3 + 22 3712 c.3310G>A c.(3310-3312)Ggc>Agc p.G1104S MRC2_uc002jae.3_Missense_Mutation_p.G175S|MRC2_uc002jaf.3_Missense_Mutation_p.M49I NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 1104 C-type lectin 6. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GGAGACCCATGGCTTCATCTG 0.662000 36 13 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103286311 103286311 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:103286311C>T uc001vpi.4 + 10 1359 c.1256C>T c.(1255-1257)gCc>gTc p.A419V NM_003291 NP_003282 P29144 TPP2_HUMAN Homo sapiens tripeptidyl peptidase II (TPP2), mRNA. 419 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCTGACGGGGCCCTTGGTGTG 0.468000 57 14 0 0 1 0 0 SLC6A4 6532 broad.mit.edu 37 17 28548746 28548746 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:28548746C>T uc002hey.4 - 2 775 c.231G>A c.(229-231)ggG>ggA p.G77G NM_001045 NP_001036 P31645 SC6A4_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA. 77 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TCTCCCGTTCCCCTTGATGAA 0.562000 76 50 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58256130 58256130 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:58256130G>A uc002aex.3 - 8 1312 c.1039C>T c.(1039-1041)Cgc>Tgc p.R347C ALDH1A2_uc010ugv.2_Missense_Mutation_p.R326C|ALDH1A2_uc002aey.3_Missense_Mutation_p.R309C|ALDH1A2_uc010ugw.2_Missense_Mutation_p.R318C|ALDH1A2_uc002aew.3_Missense_Mutation_p.R251C NM_003888 NP_733798 O94788 AL1A2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA. 347 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity p.R347H(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CCCACTACGCGCCTCTTGGCC 0.527000 61 34 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23391419 23391419 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:23391419G>A uc002dln.3 + 11 1647 c.1471G>A c.(1471-1473)Gga>Aga p.G491R NM_000336 NP_000327 P51168 SCNNB_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA. 491 excretion|sensory perception of taste apical plasma membrane WW domain binding|ligand-gated sodium channel activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) CTGCAGGAAGGGAATTGTCAA 0.488000 59 15 0 0 1 0 0 FILIP1L 11259 broad.mit.edu 37 3 99569486 99569486 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:99569486C>T uc003dtm.3 - 4 1497 c.1034G>A c.(1033-1035)cGa>cAa p.R345Q MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.R345Q|FILIP1L_uc010hpf.3_Intron|FILIP1L_uc010hpg.3_Missense_Mutation_p.R105Q|FILIP1L_uc003dtn.3_Missense_Mutation_p.R105Q|FILIP1L_uc021xbr.1_Missense_Mutation_p.R105Q|FILIP1L_uc003dtp.1_Missense_Mutation_p.R105Q NM_182909 NP_878913 Q4L180 FIL1L_HUMAN Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA. 345 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 TTCTGCTTTTCGTAAAGACCT 0.443000 103 51 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766864 57766864 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr20:57766864G>A uc002yan.3 + 0 790 c.790G>A c.(790-792)Gaa>Aaa p.E264K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 264 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TGTGAGGACCGAAGCTGCTCC 0.657000 64 31 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34884512 34884512 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:34884512G>A uc003teh.1 + 6 890 c.762G>A c.(760-762)ggG>ggA p.G254G NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.G254G|NPSR1_uc010kwt.1_Silent_p.G101G|NPSR1_uc010kwu.1_Silent_p.G44G|NPSR1_uc010kwv.1_Silent_p.G188G|NPSR1_uc003tei.1_Silent_p.G254G|NPSR1_uc010kww.1_Silent_p.G243G|NPSR1_uc011kar.1_Silent_p.G188G NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 254 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CTACAGATGGGAAACTGTGCA 0.403000 37 38 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28272896 28272896 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:28272896G>A uc009xky.3 - 5 793 c.695C>T c.(694-696)tCa>tTa p.S232L ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.S232L|ARMC4_uc010qdu.1_5'Flank NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 232 binding 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 ACATCCATTTGAAAATTCATA 0.403000 32 16 0 0 1 0 0 TDRD10 126668 broad.mit.edu 37 1 154515250 154515250 + Silent SNP G A A rs141912752 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:154515250G>A uc009wow.3 + 7 1294 c.456G>A c.(454-456)gaG>gaA p.E152E TDRD10_uc001ffd.3_Silent_p.E152E|TDRD10_uc001ffe.3_Silent_p.E73E NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA. 152 RNA binding|nucleotide binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) ACCTGTGTGAGACAGAGAAAC 0.493000 25 18 0 0 1 0 0 PALB2 79728 broad.mit.edu 37 16 23641356 23641356 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:23641356G>A uc002dlx.1 - 4 2319 c.2119C>T c.(2119-2121)Cct>Tct p.P707S NM_024675 NP_078951 Q86YC2 PALB2_HUMAN Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA. 707 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3) 55 GBM - Glioblastoma multiforme(48;0.0167) GTATTTAAAGGAGTATAAAGT 0.458000 """F, N, Mis""" """Wilms tumor, medulloblastoma, AML ,breast""" Involved in tolerance or repair of DNA crosslinks 48 34 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79747333 79747333 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:79747333G>A uc001sys.3 + 9 1533 c.862G>A c.(862-864)Ggt>Agt p.G288S SYT1_uc001syt.3_Missense_Mutation_p.G288S|SYT1_uc001syu.3_Missense_Mutation_p.G285S|SYT1_uc001syv.3_Missense_Mutation_p.G288S NM_001135805 NP_005630 P21579 SYT1_HUMAN Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA. 288 C2 2.|Phospholipid binding (Probable). detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 ACCTACTGCTGGTAAGCTGAC 0.388000 82 57 0 0 1 0 0 RTF1 23168 broad.mit.edu 37 15 41749994 41749994 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:41749994C>T uc001zny.3 + 3 594 c.582C>T c.(580-582)gcC>gcT p.A194A NM_015138 NP_055953 Q92541 RTF1_HUMAN Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA. 194 Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 18 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) AAGACAGGGCCCGTCTGGAAC 0.478000 89 46 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140222709 140222709 + Silent SNP G T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140222709G>T uc003lhs.2 + 0 1803 c.1803G>T c.(1801-1803)tcG>tcT p.S601S PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.S601S NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 614 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCCGACTCGGGCTACAACG 0.687000 39 8 7.48243e-07 7.54845e-07 1 1 0 PCDHAC2 56134 broad.mit.edu 37 5 140262444 140262444 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140262444G>A uc003lif.2 + 0 591 c.591G>A c.(589-591)agG>agA p.R197R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.R197R|PCDHAC2_uc003lid.3_Silent_p.R197R NM_018904 NP_061727 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA. 212 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGTACTGAGGAAAACACTGG 0.443000 20 19 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140188116 140188116 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140188116G>A uc003lhi.2 + 0 1445 c.1344G>A c.(1342-1344)gtG>gtA p.V448V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.V448V|PCDHAC2_uc011daa.2_Silent_p.V448V NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 462 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCTGATGTGAACGACAACG 0.642000 52 5 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999824 72999824 + Missense_Mutation SNP T G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:72999824T>G uc002lly.3 + 1 2890 c.2327T>G c.(2326-2328)gTg>gGg p.V776G TSHZ1_uc021uln.1_Missense_Mutation_p.V776G NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 821 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AAGCCGCTGGTGTCCAGCGTG 0.582000 35 20 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18022891 18022891 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:18022891C>T uc021trm.1 + 0 996 c.777C>T c.(775-777)ccC>ccT p.P259P MYO15A_uc021trl.1_Silent_p.P259P NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 259 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AGCAGGAACCCTACCTGGCGG 0.652000 14 17 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47421349 47421349 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:47421349C>T uc002leb.2 - 21 3295 c.3007G>A c.(3007-3009)Gag>Aag p.E1003K MYO5B_uc002lea.2_Missense_Mutation_p.E144K NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1003 protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TGGGCGTCCTCCAAGATCTTG 0.652000 47 31 0 0 1 0 0 PCCA 5095 broad.mit.edu 37 13 101182352 101182352 + Splice_Site SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:101182352G>A uc001voo.3 + 24 2225 c.2119_splice c.e24-1 p.V707_splice PCCA_uc010aga.3_Splice_Site_p.V681_splice|PCCA_uc010tiz.2_Splice_Site_p.V660_splice NM_000282 NP_000273 P05165 PCCA_HUMAN Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 707 Biotinyl-binding. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) AAAATTCAAGGTGAAATCTGT 0.453000 26 9 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31327763 31327763 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:31327763C>T uc021sia.1 - 19 3051 c.2737G>A c.(2737-2739)Gag>Aag p.E913K TRPM1_uc010azy.3_Missense_Mutation_p.E781K|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.E896K|TRPM1_uc001zfm.3_Missense_Mutation_p.E874K NM_001252020 NP_001238949 Q7Z4N2 TRPM1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA. 874 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CGTATCTTCTCTAACGCCAGG 0.537000 37 22 0 0 1 0 0 USP28 57646 broad.mit.edu 37 11 113701610 113701610 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:113701610G>A uc001poh.3 - 8 922 c.889C>T c.(889-891)Ctg>Ttg p.L297L USP28_uc001pog.3_5'Flank|USP28_uc010rwy.2_Silent_p.L172L|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Silent_p.L297L|USP28_uc010rwz.1_3'UTR NM_020886 NP_065937 Q96RU2 UBP28_HUMAN Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA. 297 VQLFYGTFLTEGVRE -> IVIVMSFLKSLSLCL (in Ref. 4; BAA96039). DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) CCTTCAGTCAGGAAAGTACCA 0.393000 47 22 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86266551 86266551 + Splice_Site SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:86266551G>A uc002blv.1 + 26 6915 c.6745_splice c.e26+1 p.E2249_splice AKAP13_uc002blu.1_Splice_Site_p.E2253_splice|AKAP13_uc010bnf.1_Splice_Site_p.E870_splice|AKAP13_uc002blw.1_Splice_Site_p.E714_splice|AKAP13_uc002blx.1_Splice_Site_p.E494_splice NM_007200 NP_009131 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA. 2249 Interaction with ESR1.|PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 AAGGTTGAAAGGTAAGGCTTG 0.423000 25 18 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220352966 220352966 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:220352966G>A uc010fwg.3 + 31 7792 c.7792G>A c.(7792-7794)Ggg>Agg p.G2598R NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 2598 Ig-like 9. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCTGCTGGAGGGGGAGGCAGC 0.607000 54 26 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096288 167096288 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:167096288C>T uc001geb.1 + 4 1936 c.1920C>T c.(1918-1920)agC>agT p.S640S NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 640 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 TGGAGGAGAGCCAGTCTATGG 0.642000 19 7 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9914760 9914760 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:9914760C>T uc004csu.1 + 9 4724 c.4634C>T c.(4633-4635)gCc>gTc p.A1545V SHROOM2_uc004csv.2_Missense_Mutation_p.A379V|SHROOM2_uc011mic.1_Missense_Mutation_p.A380V|SHROOM2_uc004csw.1_Missense_Mutation_p.A380V NM_001649 NP_001640 Q13796 SHRM2_HUMAN Homo sapiens shroom family member 2 (SHROOM2), mRNA. 1545 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CACGAGGACGCCAAGGAGCTC 0.557000 2 3 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33881544 33881544 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:33881544G>A uc003jia.1 - 1 332 c.169C>T c.(169-171)Cca>Tca p.P57S ADAMTS12_uc010iuq.1_Missense_Mutation_p.P57S|ADAMTS12_uc003jib.1_Missense_Mutation_p.P57S NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 57 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ACTCGGACTGGACCCACCACG 0.488000 HNSCC(64;0.19) 96 48 0 0 1 0 0 OR52N1 79473 broad.mit.edu 37 11 5809912 5809912 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:5809912G>A uc010qzo.2 - 0 135 c.135C>T c.(133-135)ttC>ttT p.F45F TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA. 45 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ACATAAGGCCGAAGTTCCCTG 0.463000 30 17 0 0 1 0 0 THRA 7067 broad.mit.edu 37 17 38244584 38244584 + Missense_Mutation SNP C A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:38244584C>A uc021twy.1 + 7 1369 c.813C>A c.(811-813)agC>agA p.S271R THRA_uc010cwp.1_Missense_Mutation_p.S271R|THRA_uc002htv.3_Missense_Mutation_p.S271R|THRA_uc002htw.3_Missense_Mutation_p.S271R|THRA_uc002htx.3_Missense_Mutation_p.S271R NM_001190919 NP_003241 P10827 THA_HUMAN Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA. 271 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm TBP-class protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1) 11 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) ACCCTGAGAGCGACACCCTGA 0.622000 50 28 2.4375e-19 2.47844e-19 1 1 0 TYW1B 441250 broad.mit.edu 37 7 72286026 72286026 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:72286026G>A uc011kej.2 - 2 329 c.170C>T c.(169-171)tCc>tTc p.S57F TYW1B_uc011keh.1_Missense_Mutation_p.S57F|TYW1B_uc011kek.1_Non-coding_Transcript NM_001145440 NP_001138912 Q6NUM6 TYW1B_HUMAN Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA. 57 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity CAGATCCAGGGACGTAACTGC 0.368000 32 32 0 0 1 0 0 TRBV2 28620 broad.mit.edu 37 7 142001079 142001079 + Silent SNP C A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:142001079C>A uc011kro.1 + 1 216 c.171C>A c.(169-171)atC>atA p.I57I TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; ACAGACAAATCTTGGGGCAGA 0.423000 23 6 3.59834e-05 3.61944e-05 1 1 0 C4BPA 722 broad.mit.edu 37 1 207317945 207317945 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:207317945C>T uc001hfo.3 + 11 1871 c.1677C>T c.(1675-1677)ctC>ctT p.L559L NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 559 complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TGCAGTGTCTCCCAAACCCAG 0.468000 37 9 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 311939 311939 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:311939G>A uc003msx.3 + 2 554 c.115G>A c.(115-117)Gat>Aat p.D39N DUSP22_uc011dhn.1_Missense_Mutation_p.D39N|DUSP22_uc003msy.1_5'UTR NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA. 39 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GTCTGTCCACGATAGTGCCAG 0.493000 58 10 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61831470 61831470 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:61831470C>T uc001jky.3 - 36 9507 c.9169G>A c.(9169-9171)Gga>Aga p.G3057R ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 3057 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GATTCCTTTCCTGGGCTAAAC 0.468000 65 74 0 0 1 0 0 TMCO7 79613 broad.mit.edu 37 16 68934432 68934432 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:68934432G>A uc002ewi.4 + 7 1485 c.1473G>A c.(1471-1473)caG>caA p.Q491Q NM_024562 NP_078838 Q9C0B7 TMCO7_HUMAN Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA. 491 integral to membrane binding endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2) 20 Ovarian(137;0.0568) OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198) TTACTAAGCAGAGTGTGTCTC 0.363000 75 17 0 0 1 0 0 INSRR 3645 broad.mit.edu 37 1 156821440 156821440 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:156821440C>T uc010pht.2 - 3 1381 c.1082G>A c.(1081-1083)gGc>gAc p.G361D NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.G361D NM_014215 NP_055030 P14616 INSRR_HUMAN Homo sapiens insulin receptor-related receptor (INSRR), mRNA. 361 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GTACTGACAGCCCTGGCGAAG 0.562000 23 15 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137644476 137644476 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:137644476G>A uc004cfe.3 + 13 2086 c.1704G>A c.(1702-1704)ggG>ggA p.G568G NM_000093 NP_000084 P20908 CO5A1_HUMAN Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA. 568 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GTCTCACAGGGAGACCTGGCC 0.622000 5 10 0 0 1 0 0 LOC401010 401010 broad.mit.edu 37 2 132200740 132200740 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:132200740C>T uc002tst.2 - 0 1728 c.1262G>A c.(1261-1263)gGg>gAg p.G421E Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA. CTGAACCTTCCCAAGCAGCTG 0.642000 14 11 0 0 1 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113634601 113634601 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:113634601C>T uc003eaq.4 + 9 1082 c.1006C>T c.(1006-1008)Cat>Tat p.H336Y GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript|GRAMD1C_uc003ear.3_Missense_Mutation_p.H169Y|GRAMD1C_uc003eas.3_Missense_Mutation_p.H131Y|GRAMD1C_uc003eat.3_5'UTR NM_017577 NP_001165576 Q8IYS0 GRM1C_HUMAN Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA. 336 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 CCGTATTTTTCATATCAGTGC 0.338000 41 27 0 0 1 0 0 CEP290 80184 broad.mit.edu 37 12 88452727 88452727 + Missense_Mutation SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:88452727A>G uc001tar.3 - 48 7060 c.6716T>C c.(6715-6717)gTt>gCt p.V2239A CEP290_uc001taq.3_Missense_Mutation_p.V1299A|BC033323_uc001tas.3_Non-coding_Transcript NM_025114 NP_079390 O15078 CE290_HUMAN Homo sapiens centrosomal protein 290kDa (CEP290), mRNA. 2239 G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TTCTAGTTGAACTGTCATCTT 0.368000 24 9 0 0 1 0 0 PRIM2 5558 broad.mit.edu 37 6 57398298 57398298 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:57398298G>A uc003pdx.3 + 9 1088 c.1001G>A c.(1000-1002)gGa>gAa p.G334E NM_000947 NP_000938 P49643 PRI2_HUMAN Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA. 334 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TTTATCAAAGGAAAGATGGAT 0.343000 87 14 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140744239 140744239 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140744239G>A uc003lju.2 + 0 342 c.342G>A c.(340-342)atG>atA p.M114I PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.M114I NM_018918 NP_061741 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA. 114 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACAAAATGAAAATTTATG 0.448000 13 14 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23894021 23894021 + Missense_Mutation SNP G A A rs145417343 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:23894021G>A uc001wjx.3 - 21 2742 c.2636C>T c.(2635-2637)tCc>tTc p.S879F NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 879 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTGCAGCAGGGACACCATCTT 0.592000 13 18 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94754895 94754895 + Splice_Site SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:94754895C>T uc001yct.3 - 3 1185 c.719_splice c.e3-1 p.G240_splice SERPINA10_uc001ycu.4_Splice_Site_p.G240_splice NM_016186 NP_057270 Q9UK55 ZPI_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA. 240 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TCAACCATTTCCCTGAACAAG 0.448000 17 22 0 0 1 0 0 SAMD11 148398 broad.mit.edu 37 1 861336 861336 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:861336C>T uc001abw.1 + 1 95 c.15C>T c.(13-15)atC>atT p.I5I SAMD11_uc001abv.1_Silent_p.I5I NM_152486 NP_689699 Q96NU1 SAM11_HUMAN Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA. 5 nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CCAAGGGGATCCTGCAGGTGC 0.647000 49 44 0 0 1 0 0 PDP2 57546 broad.mit.edu 37 16 66919776 66919776 + Splice_Site SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:66919776A>G uc021tjw.1 + 1 1590 c.1590_splice c.e1+1 p.*530_splice PDP2_uc002eqk.2_Silent_p.*530* NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA. 0 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) AAGGGGGGTTAAGAATCTCCC 0.398000 33 22 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139144923 139144923 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:139144923G>A uc003yuy.3 - 19 4305 c.4134C>T c.(4132-4134)atC>atT p.I1378I FAM135B_uc003yux.3_Silent_p.I1279I|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1378 p.L1377L(1) 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) CGGCTCGGCCGATCAGGGTGT 0.537000 HNSCC(54;0.14) 205 107 0 0 1 0 0 FCRL3 115352 broad.mit.edu 37 1 157665275 157665275 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:157665275G>A uc001fqz.4 - 7 1547 c.1255C>T c.(1255-1257)Cat>Tat p.H419Y FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.H145Y|FCRL3_uc001frb.3_Missense_Mutation_p.H419Y|FCRL3_uc001frc.1_Missense_Mutation_p.H419Y NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Homo sapiens Fc receptor-like 3 (FCRL3), mRNA. 419 Ig-like C2-type 5. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) ACATCCTCATGATAAAATCGG 0.582000 74 36 0 0 1 0 0 LCMT1 51451 broad.mit.edu 37 16 25172472 25172473 + Nonsense_Mutation DNP CC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:25172472_25172473CC>TT uc002dnx.1 + 5 674_675 c.516_517CC>TT c.(514-519)ctccga>ctTTga p.R173* LCMT1_uc002dny.1_Intron NM_016309 NP_057393 Q9UIC8 LCMT1_HUMAN Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA. 173 S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) GAGCAGATCTCCGAGACCTGTC 0.351000 18 6 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343781 248343781 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:248343781C>T uc010pzf.2 + 0 494 c.494C>T c.(493-495)tCc>tTc p.S165F NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCCACATTTTCCTTCTCCTTT 0.423000 143 157 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37680644 37680644 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:37680644G>A uc002ofq.3 - 3 463 c.211C>T c.(211-213)Cct>Tct p.P71S ZNF585B_uc002ofr.1_5'UTR NM_152279 NP_689492 Q52M93 Z585B_HUMAN Homo sapiens zinc finger protein 585B (ZNF585B), mRNA. 71 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCTGGTTTAGGAACTTGATAC 0.478000 37 19 0 0 1 0 0 CHUK 1147 broad.mit.edu 37 10 101980384 101980384 + Silent SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:101980384T>C uc001kqp.3 - 4 490 c.435A>G c.(433-435)ctA>ctG p.L145L NM_001278 NP_001269 O15111 IKKA_HUMAN Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA. 145 Protein kinase. I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|IkappaB kinase activity|identical protein binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) TTTCAGGTTTTAGATCTCGAT 0.308000 24 23 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188644 32188644 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:32188644G>A uc003obb.3 - 4 950 c.811C>T c.(811-813)Cca>Tca p.P271S NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.P271S NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 271 EGF-like 6. Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TCACAGTCTGGGCCTATGAAA 0.612000 126 79 0 0 1 0 0 MLL 4297 broad.mit.edu 37 11 118355575 118355575 + Splice_Site SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:118355575A>G uc001pta.3 + 10 4242 c.4219_splice c.e10-2 p.E1407_splice MLL_uc001ptb.3_Splice_Site_p.E1407_splice|MLL_uc001pte.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 1407 Breakpoint for translocation to form MLL- AFF4 fusion protein. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CTCTCTCCACAGGAGGATTGT 0.408000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 29 24 0 0 1 0 0 SLC5A6 8884 broad.mit.edu 37 2 27427419 27427419 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:27427419G>A uc010eyv.1 - 9 1237 c.915C>T c.(913-915)ctC>ctT p.L305L SLC5A6_uc002rjd.3_Silent_p.L305L NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA. 305 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) AGCCCACGCAGAGGGACACCT 0.587000 65 17 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62926419 62926419 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:62926419G>A uc001sre.3 + 11 1993 c.1602G>A c.(1600-1602)caG>caA p.Q534Q MON2_uc010ssn.2_Silent_p.Q534Q|MON2_uc009zqj.3_Silent_p.Q534Q|MON2_uc010ssl.2_Silent_p.Q462Q|MON2_uc010ssm.2_Silent_p.Q534Q|MON2_uc001srf.3_Silent_p.Q297Q NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA. 534 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) AGGATTTACAGTCAACATCAG 0.348000 32 13 0 0 1 0 0 P4HA3 283208 broad.mit.edu 37 11 74009327 74009327 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:74009327C>T uc010rrj.2 - 3 690 c.647G>A c.(646-648)gGa>gAa p.G216E P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.G216E Q7Z4N8 P4HA3_HUMAN Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA. 216 endoplasmic reticulum lumen L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) CTTCCACTCTCCGTAAGATCC 0.493000 87 42 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53056989 53056989 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:53056989C>T uc010epq.1 + 4 997 c.820C>T c.(820-822)Ctt>Ttt p.L274F ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808 (ZNF808), mRNA. 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CAAGCAATACCTTGCATGCCA 0.398000 76 37 0 0 1 0 0 SUCNR1 56670 broad.mit.edu 37 3 151598668 151598668 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:151598668C>T uc003ezf.2 + 2 442 c.337C>T c.(337-339)Ctc>Ttc p.L113F NM_033050 NP_149039 Q9BXA5 SUCR1_HUMAN Homo sapiens succinate receptor 1 (SUCNR1), mRNA. 113 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) Succinic acid(DB00139) CATTCTCTTTCTCACTTTTAT 0.393000 30 24 0 0 1 0 0 CKAP2L 150468 broad.mit.edu 37 2 113514357 113514357 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:113514357C>T uc002tie.2 - 3 670 c.591G>A c.(589-591)agG>agA p.R197R CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Silent_p.R32R|CKAP2L_uc010yxq.1_Silent_p.R32R NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA. 197 centrosome breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 GATCTGGCTTCCTCTCAGGTT 0.338000 31 18 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9074987 9074987 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:9074987C>T uc002mkp.3 - 2 12663 c.12459G>A c.(12457-12459)gtG>gtA p.V4153V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4155 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 TGGTTTCTTCCACAGAGGGAG 0.498000 70 34 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558546 140558546 + Missense_Mutation SNP G A A rs148140727 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140558546G>A uc011dai.2 + 0 1176 c.931G>A c.(931-933)Gaa>Aaa p.E311K PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 311 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E311K(4) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTTGATTTCGAAAAATTTCA 0.383000 112 33 0 0 1 0 0 GJB4 127534 broad.mit.edu 37 1 35227594 35227594 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:35227594G>A uc001bxw.4 + 0 739 c.739G>A c.(739-741)Gat>Aat p.D247N GJB4_uc001bxv.1_Missense_Mutation_p.D247N NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA. 247 cell communication connexon complex|integral to membrane gap junction channel activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GCACCCTGAGGATGGGAACTC 0.617000 25 25 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841646 8841646 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:8841646C>T uc010xkg.2 + 0 256 c.256C>T c.(256-258)Ctg>Ttg p.L86L NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ATCAGACTTTCTGCGGGGAGA 0.562000 45 42 0 0 1 0 0 SULT1C3 442038 broad.mit.edu 37 2 108863803 108863803 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:108863803G>A uc010ywo.2 + 0 153 c.153G>A c.(151-153)ctG>ctA p.L51L NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA. 51 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 ATCTTATTCTGGCAACTTACC 0.333000 38 25 0 0 1 0 0 ANP32D 23519 broad.mit.edu 37 12 48866655 48866655 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:48866655G>A uc010slt.2 + 0 208 c.208G>A c.(208-210)Gaa>Aaa p.E70K NM_012404 NP_036536 O95626 AN32D_HUMAN Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA. 70 central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 9 TAAGAAGCTTGAACTAAGCAG 0.368000 36 17 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062366 194062366 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:194062366G>A uc003fts.3 - 1 1156 c.1066C>T c.(1066-1068)Ctc>Ttc p.L356F CPN2_uc021xix.1_Missense_Mutation_p.L356F NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 356 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) TTCTGGAAGAGGGCTGGGTGC 0.562000 51 17 0 0 1 0 0 AC2 0 broad.mit.edu 37 1 151992726 151992726 + RNA SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:151992726C>T uc001ezm.1 + 8 c.2391C>T Homo sapiens AC2 pseudogene, precursor RNA sequence. ATGAAGAATTCAAAGACCTCA 0.532000 53 25 0 0 1 0 0 CCNJL 79616 broad.mit.edu 37 5 159682681 159682681 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:159682681G>A uc003lyb.1 - 5 1014 c.762C>T c.(760-762)gtC>gtT p.V254V CCNJL_uc011dee.1_Silent_p.V206V|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Silent_p.V206V NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN Homo sapiens cyclin J-like (CCNJL), mRNA. 254 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGGCCGCAGCGACCACAGAAG 0.552000 48 7 0 0 1 0 0 PSAPL1 768239 broad.mit.edu 37 4 7435343 7435343 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:7435343C>T uc011bwj.2 - 0 1358 c.1264G>A c.(1264-1266)Gcc>Acc p.A422T SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA. 422 Saposin B-type 4. sphingolipid metabolic process extracellular region|lysosome lung(4) 4 CCCTTGAAGGCCACCAGGATG 0.587000 13 7 0 0 1 0 0 ACBD4 79777 broad.mit.edu 37 17 43214795 43214795 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:43214795C>T uc002iid.2 + 5 820 c.476C>T c.(475-477)cCc>cTc p.P159L ACBD4_uc010wjj.2_Missense_Mutation_p.P159L|ACBD4_uc002iie.3_Missense_Mutation_p.P159L|ACBD4_uc002iif.3_Missense_Mutation_p.P159L|ACBD4_uc002iic.3_Missense_Mutation_p.P159L|ACBD4_uc010dae.3_Missense_Mutation_p.P81L NM_001135707 NP_001129179 Q8NC06 ACBD4_HUMAN Homo sapiens acyl-CoA binding domain containing 4 (ACBD4), transcript variant 5, mRNA. 159 fatty-acyl-CoA binding kidney(1)|lung(3)|ovary(1) 5 CCCTGCCTCCCCAAGGAACCG 0.627000 21 12 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42875615 42875615 + Missense_Mutation SNP A C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:42875615A>C uc001uys.2 + 7 2908 c.2733A>C c.(2731-2733)ttA>ttC p.L911F NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA. 911 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CTAAATCTTTAAAGGAGAAAA 0.378000 22 13 0 0 1 0 0 NXPH1 30010 broad.mit.edu 37 7 8791266 8791266 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:8791266C>T uc003srv.3 + 2 1594 c.683C>T c.(682-684)tCc>tTc p.S228F NXPH1_uc011jxh.2_Missense_Mutation_p.S111F NM_152745 NP_689958 P58417 NXPH1_HUMAN Homo sapiens neurexophilin 1 (NXPH1), mRNA. 228 V (Cys-rich). 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) AGTCATGTATCCTGGCTCTGC 0.413000 22 20 0 0 1 0 0 MTMR12 54545 broad.mit.edu 37 5 32312901 32312901 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:32312901G>A uc003jhq.3 - 0 214 c.44C>T c.(43-45)gCc>gTc p.A15V MTMR12_uc010iuk.3_Missense_Mutation_p.A15V|MTMR12_uc010iul.3_Missense_Mutation_p.A15V NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN Homo sapiens myotubularin related protein 12 (MTMR12), mRNA. 15 cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GGGCTTGGGGGCCTTGGTGCC 0.771000 43 18 0 0 1 0 0 WDR69 164781 broad.mit.edu 37 2 228786205 228786205 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:228786205C>T uc002vpn.1 + 11 1220 c.1141C>T c.(1141-1143)Cag>Tag p.Q381* WDR69_uc010zlw.1_Nonsense_Mutation_p.Q366*|WDR69_uc002vpo.1_Non-coding_Transcript NM_178821 NP_849143 Q8N136 WDR69_HUMAN Homo sapiens WD repeat domain 69 (WDR69), mRNA. 381 breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148) CCAGTGCCTCCAGGTTCTTGA 0.448000 33 25 0 0 1 0 0 SH3RF1 57630 broad.mit.edu 37 4 170051274 170051274 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:170051274G>A uc003isa.1 - 5 1437 c.1102C>T c.(1102-1104)Ccg>Tcg p.P368S SH3RF1_uc010irc.1_Missense_Mutation_p.P90L NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA. 368 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CTTGGGGGCGGGGTCACAATT 0.438000 22 6 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114284612 114284612 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:114284612G>A uc003ibe.4 + 39 10975 c.10875G>A c.(10873-10875)ggG>ggA p.G3625G ANK2_uc003ibd.4_Silent_p.G1531G|ANK2_uc003ibf.4_Silent_p.G1540G|ANK2_uc011cgc.2_Silent_p.G716G|ANK2_uc003ibg.4_Silent_p.G524G|ANK2_uc003ibh.4_Silent_p.G214G NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 3592 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGAGGGATGGGAAACATGCTA 0.408000 34 25 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124821308 124821309 + Missense_Mutation DNP GG AA AA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:124821308_124821309GG>AA uc021rga.1 - 37 6243_6244 c.6126_6127CC>TT c.(6124-6129)ctccgt>ctTTgt p.R2043C NCOR2_uc021rgb.1_Missense_Mutation_p.R2027C|NCOR2_uc010tbb.2_Missense_Mutation_p.R2036C|NCOR2_uc010tbc.2_Missense_Mutation_p.R2026C|NCOR2_uc021rgc.1_Missense_Mutation_p.R2026C|NCOR2_uc010tax.2_Missense_Mutation_p.R157C NM_006312 NP_006303 Q9Y618 NCOR2_HUMAN Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA. 2047 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CCCAGAGAACGGAGTTCCAGTT 0.599000 60 17 0 0 1 0 0 USP39 10713 broad.mit.edu 37 2 85850842 85850842 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:85850842C>T uc002sqe.3 + 3 543 c.507C>T c.(505-507)acC>acT p.T169T USP39_uc002sqb.3_5'UTR|USP39_uc010ysu.2_Silent_p.T91T|USP39_uc010ysv.2_Silent_p.T66T|USP39_uc010fgn.1_Silent_p.T169T|USP39_uc002sqg.3_Silent_p.T169T|USP39_uc010fgo.3_Silent_p.T169T NM_006590 NP_006581 Q53GS9 SNUT2_HUMAN Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA. 169 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 ACCTCCACACCCTCAAGTTTT 0.478000 132 107 0 0 1 0 0 PPARA 5465 broad.mit.edu 37 22 46628087 46628087 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:46628087G>A uc003bhb.1 + 5 1233 c.1110G>A c.(1108-1110)ctG>ctA p.L370L PPARA_uc003bgw.1_Silent_p.L370L|PPARA_uc003bgx.1_Silent_p.L370L|PPARA_uc010hab.1_Silent_p.L370L|PPARA_uc010hac.1_Silent_p.L167L NM_005036 NP_005027 Q07869 PPARA_HUMAN Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA. 370 Ligand-binding.|Required for heterodimerization with RXRA. fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) CACTGGAACTGGATGACAGTG 0.428000 79 55 0 0 1 0 0 ZNF98 148198 broad.mit.edu 37 19 22574587 22574587 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:22574587G>A uc002nqt.2 - 3 1572 c.1450C>T c.(1450-1452)Cat>Tat p.H484Y NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN Homo sapiens zinc finger protein 98 (ZNF98), mRNA. 484 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H484Y(3) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TCTCCAGTATGAATTACCTTA 0.378000 45 12 0 0 1 0 0 OTUD7A 161725 broad.mit.edu 37 15 31822943 31822943 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:31822943C>T uc001zfq.3 - 3 712 c.619G>A c.(619-621)Gat>Aat p.D207N OTUD7A_uc001zfr.3_Missense_Mutation_p.D207N NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN Homo sapiens OTU domain containing 7A (OTUD7A), mRNA. 207 Catalytic (By similarity).|OTU.|TRAF-binding (By similarity). cytoplasm|nucleus DNA binding|cysteine-type peptidase activity|zinc ion binding endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) CAGTTCCCATCCCCTGTTGTG 0.537000 46 17 0 0 1 0 0 BSPRY 54836 broad.mit.edu 37 9 116132216 116132216 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:116132216C>T uc004bhg.4 + 5 1051 c.1003C>T c.(1003-1005)Cgt>Tgt p.R335C BSPRY_uc010muw.3_3'UTR NM_017688 NP_060158 Q5W0U4 BSPRY_HUMAN Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA. 335 B30.2/SPRY. calcium ion transport cytoplasm|membrane zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TCAGGAGTTTCGTTTCTCACA 0.617000 39 19 0 0 1 0 0 MORC3 23515 broad.mit.edu 37 21 37747572 37747572 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr21:37747572T>C uc002yvi.3 + 16 2874 c.2798T>C c.(2797-2799)aTg>aCg p.M933T NM_015358 NP_056173 Q14149 MORC3_HUMAN Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA. 933 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization PML body|aggresome|intermediate filament cytoskeleton ATP binding|zinc ion binding p.Q932K(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GTTGAACAAATGAGTGAAATC 0.308000 25 17 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96708970 96708970 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:96708970G>A uc001kka.4 + 4 773 c.748G>A c.(748-750)Gaa>Aaa p.E250K CYP2C9_uc009xut.3_Missense_Mutation_p.E250K NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 250 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) AAAAGTAAAAGAACACCAAGA 0.313000 34 8 0 0 1 0 0 OR6C76 390326 broad.mit.edu 37 12 55820744 55820744 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:55820744C>T uc010spm.2 + 0 707 c.707C>T c.(706-708)tCa>tTa p.S236L NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 76 (OR6C76), mRNA. 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S236P(1) NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 AAAGCCTTTTCAACCTGCTCC 0.373000 26 12 0 0 1 0 0 CPNE4 131034 broad.mit.edu 37 3 131624237 131624237 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:131624237G>A uc011blq.2 - 1 215 c.105C>T c.(103-105)atC>atT p.I35I CPNE4_uc003eok.3_Silent_p.I17I|CPNE4_uc003eol.3_Silent_p.I35I|CPNE4_uc003eom.3_Silent_p.I17I NM_130808 NP_570720 Q96A23 CPNE4_HUMAN Homo sapiens copine IV (CPNE4), mRNA. 17 C2 1. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 GGCTGTTAAAGATTCCCAGTG 0.458000 25 16 0 0 1 0 0 ASB17 127247 broad.mit.edu 37 1 76397745 76397745 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:76397745C>T uc001dhe.2 - 0 372 c.232G>A c.(232-234)Gga>Aga p.G78R ASB17_uc001dhf.2_Non-coding_Transcript NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA. 78 intracellular signal transduction p.S77T(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 21 AAACGGTATCCTGATTTTTCC 0.378000 15 60 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113197561 113197561 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:113197561C>T uc010mtz.3 - 28 5185 c.4848G>A c.(4846-4848)gtG>gtA p.V1616V NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 1616 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCACTTTCCCCACAATTCCTG 0.438000 41 38 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34487325 34487325 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr20:34487325G>A uc002xek.1 + 9 1427 c.1316G>A c.(1315-1317)gGg>gAg p.G439E PHF20_uc002xei.1_Missense_Mutation_p.G439E|PHF20_uc010gfo.1_Missense_Mutation_p.G439E|PHF20_uc002xej.1_Missense_Mutation_p.G323E NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN Homo sapiens PHD finger protein 20 (PHF20), mRNA. 439 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) GATGATTTTGGGTCATCTAAT 0.333000 15 10 0 0 1 0 0 HYAL4 23553 broad.mit.edu 37 7 123517118 123517118 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:123517118C>T uc003vlc.3 + 4 1993 c.1355C>T c.(1354-1356)gCt>gTt p.A452V HYAL4_uc011knz.2_3'UTR NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA. 452 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 ATAAAGACGGCTGATGGCTGC 0.433000 112 28 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99689498 99689498 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:99689498C>T uc002szg.4 - 10 1549 c.921G>A c.(919-921)gaG>gaA p.E307E TSGA10_uc002szh.4_Silent_p.E307E|TSGA10_uc002szi.4_Silent_p.E307E|TSGA10_uc010fin.1_Silent_p.E307E|TSGA10_uc010yvn.1_Intron NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA. 307 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 CCTGTTCCATCTCAGCAATGA 0.333000 56 42 0 0 1 0 0 C11orf53 341032 broad.mit.edu 37 11 111156452 111156452 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:111156452C>T uc001plc.3 + 3 531 c.384C>T c.(382-384)acC>acT p.T128T NM_198498 NP_940900 Q8IXP5 CK053_HUMAN Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA. 128 endometrium(1)|large_intestine(2)|lung(3)|skin(2) 8 all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147) Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507) CCCTGCTGACCTTGCCACCCA 0.637000 53 38 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78184223 78184223 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:78184223G>A uc001vki.3 + 21 1489 c.1319G>A c.(1318-1320)aGa>aAa p.R440K SCEL_uc010thx.2_Missense_Mutation_p.R398K|SCEL_uc001vkj.3_Missense_Mutation_p.R420K NM_144777 NP_659001 O95171 SCEL_HUMAN Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. 440 16 X approximate tandem repeats. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) ACTCCTGAAAGAAACAGAACT 0.378000 27 17 0 0 1 0 0 TAP2 6891 broad.mit.edu 37 6 32803453 32803454 + Nonsense_Mutation DNP GG AA AA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:32803453_32803454GG>AA uc011dqf.1 - 3 827_828 c.705_706CC>TT c.(703-708)cgccag>cgTTag p.Q236* TAP2_uc003ocb.1_Nonsense_Mutation_p.Q236*|TAP2_uc003occ.3_Nonsense_Mutation_p.Q236*|TAP2_uc003ocd.3_Nonsense_Mutation_p.Q236* NM_018833 NP_061313 Q03519 TAP2_HUMAN Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA. 236 ABC transmembrane type-1. antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I TAP complex|nucleus|plasma membrane ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding CCGAGGTCCTGGCGCAGCAGGG 0.589000 54 21 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423178 56423178 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:56423178C>T uc010ygg.2 - 4 2030 c.2005G>A c.(2005-2007)Gaa>Aaa p.E669K NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 669 ATP binding p.E669K(2) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) TGGAGTTCTTCGTCCTCCAAA 0.408000 48 31 0 0 1 0 0 DUOXA2 405753 broad.mit.edu 37 15 45410043 45410043 + Missense_Mutation SNP T G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:45410043T>G uc001zuo.3 + 5 1180 c.899T>G c.(898-900)cTc>cGc p.L300R DUOXA2_uc010beb.3_Non-coding_Transcript|DUOXA1_uc010uem.2_Intron|DUOXA1_uc001zup.3_Intron|DUOXA1_uc010bec.3_Intron NM_207581 NP_997464 Q1HG44 DOXA2_HUMAN Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA. 300 protein transport endoplasmic reticulum membrane|integral to membrane all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) CCTCTTATCCTCGGCGACCCA 0.597000 OREG0023102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 41 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192482 132192482 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:132192482C>T uc003vra.4 - 1 1200 c.971G>A c.(970-972)aGg>aAg p.R324K PLXNA4_uc003vrc.2_Missense_Mutation_p.R324K|PLXNA4_uc003vrb.3_Missense_Mutation_p.R324K NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 324 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TCCAAGGGTCCTGCCAAGCAC 0.592000 55 18 0 0 1 0 0 CCDC14 64770 broad.mit.edu 37 3 123663826 123663826 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:123663826T>C uc011bjx.2 - 8 1448 c.1357A>G c.(1357-1359)Att>Gtt p.I453V CCDC14_uc003egv.4_Missense_Mutation_p.I94V|CCDC14_uc003egx.4_Missense_Mutation_p.I253V|CCDC14_uc010hrt.3_Missense_Mutation_p.I412V|CCDC14_uc003egy.4_Missense_Mutation_p.I253V|CCDC14_uc003egz.2_Missense_Mutation_p.I253V NM_022757 NP_073594 Q49A88 CCD14_HUMAN Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA. 453 centrosome NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10) 21 Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205) Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159) AACCTCTGAATTTCTGAATCC 0.318000 23 11 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104122764 104122764 + Silent SNP C T T rs146494560 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:104122764C>T uc001tjw.3 + 47 5259 c.5073C>T c.(5071-5073)tcC>tcT p.S1691S STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 1691 FAS1 5. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TAGTCATCTCCGTCTCTCAGG 0.507000 38 18 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46252457 46252457 + Silent SNP C T T rs145736784 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:46252457C>T uc011bzc.1 - 9 1651 c.1239G>A c.(1237-1239)aaG>aaA p.K413K GABRA2_uc003gxc.3_Silent_p.K408K|GABRA2_uc010igc.2_Silent_p.K408K P47869 GBRA2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA. 408 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.K408N(2)|p.K408K(1)|p.S413I(1)|p.N412S(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TGAAAGTTTTCTTTGCTTCAG 0.398000 131 80 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136831 40136831 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:40136831C>T uc021qgf.1 - 0 1012 c.1012G>A c.(1012-1014)Ggg>Agg p.G338R LRRC4C_uc001mxc.1_Missense_Mutation_p.G334R|LRRC4C_uc001mxd.1_Missense_Mutation_p.G334R|LRRC4C_uc001mxa.1_Missense_Mutation_p.G338R|LRRC4C_uc001mxb.1_Missense_Mutation_p.G334R NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 338 LRRCT. regulation of axonogenesis integral to membrane protein binding p.G338G(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) ATGTACCTCCCCTTTAGATTG 0.527000 27 16 0 0 1 0 0 EPC2 26122 broad.mit.edu 37 2 149519472 149519473 + Missense_Mutation DNP AC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:149519472_149519473AC>TT uc010zbt.2 + 4 815_816 c.788_789AC>TT c.(787-789)cac>cTT p.H263L NM_015630 NP_056445 Q52LR7 EPC2_HUMAN Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA. 263 DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0516) GAATTATTGCACTTAACCTTAG 0.322000 14 11 0 0 1 0 0 MYO5A 4644 broad.mit.edu 37 15 52681552 52681552 + Silent SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:52681552T>C uc002aby.2 - 12 1795 c.1551A>G c.(1549-1551)aaA>aaG p.K517K MYO5A_uc002abx.3_Silent_p.K517K|MYO5A_uc010uge.1_Silent_p.K386K NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA. 517 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1) 57 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CATCTGTGCCTTTAGGCATCT 0.353000 24 16 0 0 1 0 0 CCDC85A 114800 broad.mit.edu 37 2 56420137 56420137 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:56420137C>T uc002rzn.3 + 1 1304 c.802C>T c.(802-804)Cca>Tca p.P268S CCDC85A_uc021vhw.1_Intron NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA. 268 His-rich. breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CTGTGGAACCCCAGATCGCCC 0.652000 33 22 0 0 1 0 0 MRPL19 9801 broad.mit.edu 37 2 75879379 75879379 + Missense_Mutation SNP C G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:75879379C>G uc002snl.3 + 2 358 c.333C>G c.(331-333)ttC>ttG p.F111L NM_014763 NP_055578 P49406 RM19_HUMAN Homo sapiens mitochondrial ribosomal protein L19 (MRPL19), nuclear gene encoding mitochondrial protein, mRNA. 111 translation mitochondrion|nuclear membrane|ribosome structural constituent of ribosome kidney(1)|large_intestine(1)|lung(6) 8 TTCCAGAGTTCTATGTTGGTC 0.333000 48 23 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94712008 94712008 + Splice_Site SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:94712008G>A uc001ycs.1 + 13 1582 c.1428_splice c.e13+1 p.K476_splice NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 476 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 AGAAAATAAGGTAAACTTCAT 0.338000 21 31 0 0 1 0 0 ZNF215 7762 broad.mit.edu 37 11 6964841 6964841 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:6964841G>A uc001mey.3 + 5 1269 c.681G>A c.(679-681)atG>atA p.M227I ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.M227I NM_013250 NP_037382 Q9UL58 ZN215_HUMAN Homo sapiens zinc finger protein 215 (ZNF215), mRNA. 227 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) GATGGATAATGGAGAAAGAAA 0.353000 83 40 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177928086 177928086 + Silent SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:177928086A>G uc001glj.1 - 13 1892 c.1026T>C c.(1024-1026)atT>atC p.I342I SEC16B_uc001glk.1_Silent_p.I18I|SEC16B_uc001glh.1_5'UTR|SEC16B_uc001gli.1_Silent_p.I341I|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Silent_p.I342I NM_033127 NP_149118 Q96JE7 SC16B_HUMAN Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA. 341 protein transport|vesicle-mediated transport Golgi membrane|endoplasmic reticulum membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 AAAACGTCATAATATCCACCT 0.493000 13 4 0 0 1 0 0 PRKCI 5584 broad.mit.edu 37 3 170009647 170009647 + Silent SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:170009647A>G uc003fgs.2 + 12 1447 c.1209A>G c.(1207-1209)ggA>ggG p.G403G PRKCI_uc003fgt.2_5'UTR NM_002740 NP_002731 P41743 KPCI_HUMAN Homo sapiens protein kinase C, iota (PRKCI), mRNA. 403 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AAAAGGAAGGATTACGGCCAG 0.328000 13 14 0 0 1 0 0 METTL8 79828 broad.mit.edu 37 2 172195767 172195767 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:172195767G>A uc010zdo.2 - 3 674 c.533C>T c.(532-534)tCt>tTt p.S178F METTL8_uc002ugu.4_Missense_Mutation_p.S178F|METTL8_uc002ugt.4_Missense_Mutation_p.S178F|METTL8_uc002ugs.4_Missense_Mutation_p.S128F|METTL8_uc010zdp.2_Missense_Mutation_p.S133F NM_024770 NP_079046 B3KW44 B3KW44_HUMAN Homo sapiens methyltransferase like 8 (METTL8), mRNA. 178 methyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 11 GTGTTTTTCAGAGTCTAGGTT 0.398000 74 45 0 0 1 0 0 DIO2 1734 broad.mit.edu 37 14 80669111 80669111 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:80669111G>A uc021rxa.1 - 2 904 c.851C>T c.(850-852)tCc>tTc p.S284F DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Missense_Mutation_p.S248F|DIO2_uc010asy.3_Missense_Mutation_p.S248F NM_001007023 Q92813 IOD2_HUMAN Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA. 248 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) AAGGTTGTAGGAGAAGGGGCC 0.438000 11 12 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62397359 62397359 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:62397359G>A uc001nua.3 - 14 1763 c.1730C>T c.(1729-1731)aCc>aTc p.T577I GANAB_uc001nub.3_Missense_Mutation_p.T555I|GANAB_uc001nuc.3_Missense_Mutation_p.T458I|GANAB_uc010rma.2_Missense_Mutation_p.T463I|GANAB_uc010rmb.2_Missense_Mutation_p.T441I NM_198335 NP_938149 Q14697 GANAB_HUMAN Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA. 555 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding Golgi apparatus|endoplasmic reticulum lumen|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 CTTGAGCATGGTGACCTCAGG 0.532000 52 42 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9905572 9905572 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:9905572C>T uc004csu.1 + 6 4076 c.3986C>T c.(3985-3987)tCc>tTc p.S1329F SHROOM2_uc004csv.2_Missense_Mutation_p.S164F|SHROOM2_uc011mic.1_Missense_Mutation_p.S164F|SHROOM2_uc004csw.1_Missense_Mutation_p.S164F NM_001649 NP_001640 Q13796 SHRM2_HUMAN Homo sapiens shroom family member 2 (SHROOM2), mRNA. 1329 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) AAGGATAAGTCCCTGGCCGAC 0.557000 9 27 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54264844 54264844 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:54264844G>A uc004dtc.2 - 18 4384 c.3945C>T c.(3943-3945)tcC>tcT p.S1315S WNK3_uc004dtd.2_Silent_p.S1268S NM_020922 NP_065973 Q9BYP7 WNK3_HUMAN Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA. 1268 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 TATCAGCTGTGGACTCCCGTG 0.423000 5 16 0 0 1 0 0 TAL1 6886 broad.mit.edu 37 1 47691530 47691530 + Missense_Mutation SNP G T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:47691530G>T uc001cqx.2 - 1 608 c.31C>A c.(31-33)Cgc>Agc p.R11S TAL1_uc009vyq.2_5'Flank|TAL1_uc001cqy.2_Missense_Mutation_p.R11S|TAL1_uc001cra.1_Intron|TAL1_uc001cqz.1_Intron NM_003189 NP_003180 P17542 TAL1_HUMAN Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA. 11 basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter nuclear chromatin E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 15 GGGTCACTGCGAGCCGCCTCG 0.726000 T """TRD@, SIL""" lymphoblastic leukemia/biphasic 21 27 1.2476e-16 1.26605e-16 1 1 0 SLC25A31 83447 broad.mit.edu 37 4 128685509 128685509 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:128685509G>A uc003ifl.3 + 2 618 c.472G>A c.(472-474)Gga>Aga p.G158R NM_031291 NP_112581 Q9H0C2 ADT4_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA. 158 transmembrane transport cilium|flagellum|integral to membrane|mitochondrial inner membrane binding|transporter activity NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2) 22 TGTCGATATTGGAAAAGGTAT 0.383000 43 22 0 0 1 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 107039 107039 + RNA SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrGL000211.1:107039G>A uc003boa.3 + 3 c.738G>A Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. CTGTGACAAAGAAAATAGAAC 0.373000 90 8 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29039837 29039837 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:29039837G>A uc002kws.3 + 5 656 c.547G>A c.(547-549)Gat>Aat p.D183N NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 183 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AAATGCCACAGATGCAGATGA 0.363000 21 9 0 0 1 0 0 MED16 10025 broad.mit.edu 37 19 880116 880117 + Missense_Mutation DNP GG AA AA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:880116_880117GG>AA uc002lqd.1 - 7 1324_1325 c.1173_1174CC>TT c.(1171-1176)gtccac>gtTTac p.H392Y MED16_uc010drw.2_Missense_Mutation_p.H217Y|MED16_uc002lqe.3_Missense_Mutation_p.H381Y|MED16_uc002lqf.3_Missense_Mutation_p.H381Y|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.H381Y|MED16_uc010xfx.1_Missense_Mutation_p.H237Y|MED16_uc010xfy.1_Intron NM_005481 NP_005472 Q9Y2X0 MED16_HUMAN Homo sapiens mediator complex subunit 16 (MED16), mRNA. 392 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGCACGATGTGGACGCTGCCGT 0.713000 13 13 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431589 140431589 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140431589C>T uc003lik.1 + 0 611 c.534C>T c.(532-534)ttC>ttT p.F178F NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 178 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATGGGTATTTCCACCTGCACA 0.567000 17 25 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102743797 102743797 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:102743797G>A uc001krw.2 + 13 2825 c.2441G>A c.(2440-2442)gGg>gAg p.G814E SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc001krx.3_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Missense_Mutation_p.P167L|MRPL43_uc001krz.1_Non-coding_Transcript|MRPL43_uc001ksa.1_Missense_Mutation_p.P167L|MRPL43_uc001ksb.1_Intron NM_017893 NP_060363 Q9NTN9 SEM4G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA. 809 cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) GTACCAGCAGGGCCCTGCTCC 0.587000 69 13 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70515342 70515342 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:70515342G>A uc002ezc.3 - 17 2166 c.2155C>T c.(2155-2157)Ctt>Ttt p.L719F COG4_uc002ezd.3_Missense_Mutation_p.L698F|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_Missense_Mutation_p.L413F NM_015386 NP_056201 Q9H9E3 COG4_HUMAN Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA. 715 D domain. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) ACCGTGGTAAGGTAGGCAATG 0.597000 80 44 0 0 1 0 0 PCNA 5111 broad.mit.edu 37 20 5099321 5099321 + Nonsense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr20:5099321G>A uc002wlp.3 - 2 525 c.322C>T c.(322-324)Cag>Tag p.Q108* PCNA_uc002wlq.3_Nonsense_Mutation_p.Q108*|PCNA_uc010zqs.1_Missense_Mutation_p.P138L|PCNA-AS1_uc021wai.1_5'Flank NM_182649 NP_872590 P12004 PCNA_HUMAN Homo sapiens proliferating cell nuclear antigen (PCNA), transcript variant 2, mRNA. 108 DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell proliferation|mismatch repair|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|positive regulation of deoxyribonuclease activity|regulation of DNA replication|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair|translesion synthesis DNA replication factor C complex|PCNA complex|PCNA-p21 complex|cytoplasm|microtubule cytoskeleton|nuclear replication fork|nucleoplasm DNA polymerase processivity factor activity|MutLalpha complex binding|dinucleotide insertion or deletion binding|purine-specific mismatch base pair DNA N-glycosylase activity endometrium(2)|kidney(1)|large_intestine(4)|lung(2) 9 ACTTTCTCCTGGTCTACCAAA 0.383000 DNA polymerases (catalytic subunits) 45 28 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248403116 248403116 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:248403116G>A uc010pzh.2 + 0 886 c.886G>A c.(886-888)Gaa>Aaa p.E296K NM_017504 NP_059974 Q96R27 OR2M4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA. 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E296*(2) NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCGCAACAAAGAAGTGTTCAG 0.423000 38 13 0 0 1 0 0 BBS1 582 broad.mit.edu 37 11 66283386 66283386 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:66283386C>T uc001oii.1 + 6 762 c.684C>T c.(682-684)tcC>tcT p.S228S BBS1_uc010rpf.1_Non-coding_Transcript|BBS1_uc001oil.1_Silent_p.S191S|BBS1_uc010rpg.1_Intron|BBS1_uc001oij.1_Silent_p.S191S|BBS1_uc001oik.1_Silent_p.S115S NM_024649 NP_078925 Q8NFJ9 BBS1_HUMAN Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA. 191 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 28 AACACAAGTCCAACTCCATCA 0.438000 Bardet-Biedl syndrome 39 27 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35969374 35969374 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:35969374C>T uc004ddj.3 + 4 849 c.783C>T c.(781-783)ttC>ttT p.F261F CXorf22_uc010ngv.3_Non-coding_Transcript NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA. 261 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 GTCCTGTTTTCTTCGGATCAT 0.403000 2 13 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137727228 137727228 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:137727228C>T uc003lcy.1 + 7 2107 c.1907C>T c.(1906-1908)cCt>cTt p.P636L KDM3B_uc010jew.1_Missense_Mutation_p.P292L|KDM3B_uc011cys.1_Intron NM_016604 NP_057688 Q7LBC6 KDM3B_HUMAN Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA. 636 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 CCTTCTAATCCTTTCCTGGCA 0.493000 60 13 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3229592 3229592 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:3229592C>T uc004crg.4 - 6 6809 c.6652G>A c.(6652-6654)Gat>Aat p.D2218N NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2218 Ig-like C2-type 6. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CACAGGTAATCTCCGGCATCT 0.453000 7 24 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48800455 48800455 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:48800455G>A uc002pir.2 - 13 2474 c.1791C>T c.(1789-1791)ggC>ggT p.G597G CCDC114_uc002piq.2_Silent_p.G406G|CCDC114_uc002pio.3_3'UTR NM_144577 NP_653178 Q96M63 CC114_HUMAN Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA. 597 Ser-rich. cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) AGGTCACGTGGCCCCCACTCG 0.647000 31 13 0 0 1 0 0 GOLGB1 2804 broad.mit.edu 37 3 121409709 121409709 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:121409709G>A uc010hrc.3 - 13 8628 c.8502C>T c.(8500-8502)aaC>aaT p.N2834N GOLGB1_uc003eei.4_Silent_p.N2829N|GOLGB1_uc003eej.4_Silent_p.N2795N|GOLGB1_uc021xcy.1_Silent_p.N2754N NM_004487 NP_004478 Q14789 GOGB1_HUMAN Homo sapiens golgin B1 (GOLGB1), mRNA. 2829 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) ACTGCACTTGGTTATAAGAAT 0.443000 17 7 0 0 1 0 0 DCAF4 26094 broad.mit.edu 37 14 73409708 73409708 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:73409708C>T uc001xng.3 + 5 658 c.438C>T c.(436-438)gcC>gcT p.A146A DCAF4_uc010ttr.2_Silent_p.A124A|DCAF4_uc001xnj.3_Silent_p.A146A|DCAF4_uc001xnh.3_Silent_p.A46A|DCAF4_uc010tts.2_Intron|DCAF4_uc010ttt.2_5'UTR|DCAF4_uc001xni.3_Intron|DCAF4_uc001xnk.3_Silent_p.A146A NM_015604 NP_851937 Q8WV16 DCAF4_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA. 146 CUL4 RING ubiquitin ligase complex NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1) 22 GCAGTTTAGCCCACGAGCTGC 0.567000 7 6 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 35 32 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109921395 109921395 + Silent SNP C T T rs141528351 by1000genomes TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:109921395C>T uc001top.3 + 2 642 c.39C>T c.(37-39)atC>atT p.I13I UBE3B_uc001toq.3_Silent_p.I13I|UBE3B_uc001tom.3_Silent_p.I13I|UBE3B_uc001ton.3_Silent_p.I13I|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.I13I|UBE3B_uc001tor.3_Silent_p.I13I NM_130466 NP_904324 Q7Z3V4 UBE3B_HUMAN Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA. 13 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 CATGGTTCATCGATAGAGCCC 0.527000 67 47 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168098367 168098367 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:168098367G>A uc002udx.3 + 7 1212 c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K XIRP2_uc010fpn.3_Missense_Mutation_p.E408K|XIRP2_uc010fpo.3_Missense_Mutation_p.E375K|XIRP2_uc002udy.3_Missense_Mutation_p.E200K|XIRP2_uc010fpq.3_Missense_Mutation_p.E153K|XIRP2_uc010fpr.3_Missense_Mutation_p.E153K NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 200 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GTCTGCCCAGGAAAAGATCCT 0.383000 88 44 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52320904 52320904 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:52320904C>T uc003xqu.4 - 16 3381 c.3280G>A c.(3280-3282)Gaa>Aaa p.E1094K PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 1094 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATCCCACCTTCCTTGATTATT 0.532000 41 43 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145153994 145153994 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:145153994T>C uc002tvu.3 - 8 3574 c.3052A>G c.(3052-3054)Aaa>Gaa p.K1018E ZEB2_uc010zbm.2_Missense_Mutation_p.K994E|ZEB2_uc002tvv.3_Missense_Mutation_p.K1012E|ZEB2_uc010fnp.3_Intron NM_014795 NP_055610 O60315 ZEB2_HUMAN Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA. 1018 cytoplasm|nucleolus SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) TGTTCGTATTTATGTCGCAGA 0.418000 117 68 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3238348 3238348 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:3238348G>A uc004crg.4 - 4 5535 c.5378C>T c.(5377-5379)cCg>cTg p.P1793L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1793 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGTGGTCTGCGGAGTGTGCAA 0.483000 5 15 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127797362 127797362 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:127797362C>T uc003qbd.3 - 5 2674 c.1809G>A c.(1807-1809)agG>agA p.R603R KIAA0408_uc003qbc.3_5'Flank NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA. 603 integral to membrane CGACGATTTTCCTGCCCAGGA 0.607000 30 43 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57719772 57719772 + Silent SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:57719772T>C uc002emh.3 + 10 1577 c.1474T>C c.(1474-1476)Ttg>Ctg p.L492L GPR97_uc010vhv.2_Silent_p.L372L|GPR97_uc010cdd.3_Non-coding_Transcript|GPR97_uc010cde.3_Silent_p.L100L NM_170776 NP_740746 Q86Y34 GPR97_HUMAN Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA. 492 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GACATGGGGGTTGGCCATCTT 0.617000 46 34 0 0 1 0 0 A4GNT 51146 broad.mit.edu 37 3 137843631 137843631 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:137843631C>T uc003ers.2 - 2 700 c.498G>A c.(496-498)atG>atA p.M166I NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA. 166 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 CATCGGTGTCCATGTAGATGC 0.547000 306 156 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960705 33960705 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:33960705C>T uc001bxj.4 + 7 2928 c.2761C>T c.(2761-2763)Cac>Tac p.H921Y ZSCAN20_uc009vui.3_Missense_Mutation_p.H920Y NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 921 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCTGGCCAACCACCAGCGCAC 0.522000 77 20 0 0 1 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20207928 20207928 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:20207928C>T uc001umh.3 + 0 141 c.40C>T c.(40-42)Cct>Tct p.P14S MPHOSPH8_uc001umg.3_Missense_Mutation_p.P14S NM_017520 NP_059990 Q99549 MPP8_HUMAN Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA. 14 cell cycle cytoplasm|nucleus breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) GACCGCAGTCCCTGTGTCAGC 0.627000 5 12 0 0 1 0 0 LOC646214 646214 broad.mit.edu 37 15 21937160 21937160 + RNA SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:21937160G>A uc010tzj.1 - 0 c.3580C>T Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. CCCTAGCAAGGTATTCCACGA 0.413000 50 13 0 0 1 0 0 CA3 761 broad.mit.edu 37 8 86354352 86354352 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:86354352C>T uc003ydj.3 + 2 366 c.283C>T c.(283-285)Ctt>Ttt p.L95F CA3_uc011lfv.2_Intron NM_005181 NP_005172 P07451 CAH3_HUMAN Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA. 95 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CCAGTTTCATCTTCACTGGGG 0.512000 62 48 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70925587 70925587 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:70925587C>T uc021rvq.1 + 0 1371 c.1371C>T c.(1369-1371)ttC>ttT p.F457F ADAM21_uc001xmd.3_Silent_p.F457F NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. 457 Disintegrin. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) ACTGCAAGTTCATGCCATCAG 0.488000 6 26 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149419937 149419937 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:149419937C>T uc003wfz.3 + 6 1061 c.662C>T c.(661-663)cCt>cTt p.P221L KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_5'Flank NM_032534 NP_115923 A5PL33 KRBA1_HUMAN Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA. 221 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ATCCTTGTGCCTGGGCCCCGG 0.622000 68 25 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204006 9204006 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:9204006C>T uc010xkj.2 + 0 86 c.86C>T c.(85-87)tCc>tTc p.S29F NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CTTCTCTTTTCCCTGTTCTTC 0.517000 39 23 0 0 1 0 0 TSPAN32 10077 broad.mit.edu 37 11 2339139 2339139 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:2339139G>A uc001lvy.1 + 9 1085 c.948G>A c.(946-948)cgG>cgA p.R316R TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Silent_p.R286R|TSPAN32_uc001lwb.1_3'UTR|TSPAN32_uc001lwc.1_Silent_p.R261R|TSPAN32_uc001lwd.1_Silent_p.R248R NM_139022 NP_620591 Q96QS1 TSN32_HUMAN Homo sapiens tetraspanin 32 (TSPAN32), mRNA. 316 cell-cell signaling integral to membrane breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1) 8 all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209) BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) gccctgagcggggtctctcag 0.592000 21 10 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507089 74507089 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:74507089G>A uc001dfy.4 - 6 1718 c.1526C>T c.(1525-1527)tCc>tTc p.S509F LRRIQ3_uc001dfz.4_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 509 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AGCCTTTTGGGATTTTTCTTT 0.358000 23 81 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69552622 69552622 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:69552622G>A uc010lyz.3 + 7 1408 c.1117G>A c.(1117-1119)Gat>Aat p.D373N C8orf34_uc003xyb.3_Missense_Mutation_p.D262N NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 287 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GGATCTTAATGATTTAAGAAT 0.398000 30 10 0 0 1 0 0 HPS3 84343 broad.mit.edu 37 3 148877926 148877926 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:148877926C>T uc003ewu.1 + 10 2106 c.1966C>T c.(1966-1968)Cct>Tct p.P656S HPS3_uc011bnq.1_Missense_Mutation_p.P491S|HPS3_uc003ewv.1_Non-coding_Transcript NM_032383 NP_115759 Q969F9 HPS3_HUMAN Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA. 656 cytoplasm p.P656L(1)|p.P656P(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GAATATTAATCCTTTAACTGC 0.423000 Hermansky-Pudlak syndrome 53 35 0 0 1 0 0 BCAM 4059 broad.mit.edu 37 19 45316579 45316579 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:45316579G>A uc002ozu.3 + 4 621 c.577G>A c.(577-579)Gag>Aag p.E193K BCAM_uc002ozt.1_Missense_Mutation_p.E193K NM_005581 NP_005572 P50895 BCAM_HUMAN Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA. 193 Ig-like V-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity p.E193*(2) central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) GCAGCGCCTGGAGGTGCCCGT 0.697000 143 94 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62574124 62574124 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:62574124C>T uc001dab.3 + 33 4507 c.4393C>T c.(4393-4395)Cat>Tat p.H1465Y INADL_uc009waf.1_Missense_Mutation_p.H1495Y|INADL_uc001daa.2_Intron|INADL_uc001dad.3_Missense_Mutation_p.H1162Y|INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.H279Y|INADL_uc009wag.3_Missense_Mutation_p.H249Y|INADL_uc010oou.1_Intron NM_176877 NP_795352 Q8NI35 INADL_HUMAN Homo sapiens InaD-like (Drosophila) (INADL), mRNA. 1465 PDZ 8. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TATAGTTATCCATGAAGTCTA 0.348000 24 19 0 0 1 0 0 ITGAX 3687 broad.mit.edu 37 16 31391335 31391335 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:31391335C>T uc002ebt.3 + 25 3076 c.3009C>T c.(3007-3009)atC>atT p.I1003I ITGAX_uc002ebu.1_Silent_p.I1003I NM_000887 NP_000878 P20702 ITAX_HUMAN Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA. 1003 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 CAGAGAAAATCGCACCCCCAG 0.577000 30 18 0 0 1 0 0 LIN28B 389421 broad.mit.edu 37 6 105474282 105474282 + Missense_Mutation SNP G C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:105474282G>C uc003pqv.1 + 2 511 c.308G>C c.(307-309)gGt>gCt p.G103A LIN28B_uc010kda.1_Missense_Mutation_p.G63A NM_001004317 NP_001004317 Q6ZN17 LN28B_HUMAN Homo sapiens lin-28 homolog B (C. elegans) (LIN28B), mRNA. 103 RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|RNA binding|protein binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) ACAGGACCTGGTGGGAGCCCC 0.393000 37 41 0 0 1 0 0 POLR2B 5431 broad.mit.edu 37 4 57889516 57889516 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:57889516G>A uc003hcl.1 + 18 2579 c.2536G>A c.(2536-2538)Gac>Aac p.D846N POLR2B_uc011cae.1_Missense_Mutation_p.D839N|POLR2B_uc011caf.1_Missense_Mutation_p.D771N|POLR2B_uc003hcm.1_Missense_Mutation_p.D339N NM_000938 NP_000929 P30876 RPB2_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA. 846 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1) 52 Glioma(25;0.08)|all_neural(26;0.181) TGCCATTTACGACAAGCTGGA 0.418000 22 16 0 0 1 0 0 KRTDAP 388533 broad.mit.edu 37 19 35978362 35978362 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:35978362C>T uc002nzh.3 - 5 357 c.268G>A c.(268-270)Gga>Aga p.G90R KRTDAP_uc021uso.1_Missense_Mutation_p.G76R NM_207392 NP_997275 P60985 KTDAP_HUMAN Homo sapiens keratinocyte differentiation-associated protein (KRTDAP), transcript variant 1, mRNA. 90 cell differentiation extracellular region breast(1)|lung(4)|prostate(1) 6 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CTCCTCAGTCCTTTCAGCTAG 0.552000 69 31 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71797377 71797377 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:71797377C>T uc010fen.3 + 27 3139 c.2998C>T c.(2998-3000)Ccc>Tcc p.P1000S DYSF_uc010fei.3_Missense_Mutation_p.P999S|DYSF_uc010feh.3_Missense_Mutation_p.P968S|DYSF_uc002sig.4_Missense_Mutation_p.P968S|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1013S|DYSF_uc010fee.3_Missense_Mutation_p.P982S|DYSF_uc010fef.3_Missense_Mutation_p.P999S|DYSF_uc002sie.3_Missense_Mutation_p.P982S|DYSF_uc010feo.3_Missense_Mutation_p.P1014S|DYSF_uc010fej.3_Missense_Mutation_p.P969S|DYSF_uc010fel.3_Missense_Mutation_p.P969S|DYSF_uc010fem.3_Missense_Mutation_p.P983S|DYSF_uc002sif.3_Missense_Mutation_p.P983S|DYSF_uc010fek.3_Missense_Mutation_p.P1000S NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 982 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 GAAGGTGCTTCCCAAGGATGA 0.532000 58 25 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 59339 59339 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:59339G>A uc003fzv.1 + 1 176 c.20G>A c.(19-21)aGg>aAg p.R7K ZNF718_uc003fzt.4_Missense_Mutation_p.R7K|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron NM_182524 NP_872330 Q3SXZ3 ZN718_HUMAN Homo sapiens zinc finger protein 595 (ZNF595), mRNA. 7 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) GTAACATTCAGGGATGTGGCC 0.418000 292 15 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644232 53644232 + Nonsense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:53644232G>A uc002qbc.2 - 4 2279 c.1852C>T c.(1852-1854)Cga>Tga p.R618* ZNF347_uc002qbb.2_Nonsense_Mutation_p.R617*|ZNF347_uc010eql.2_Nonsense_Mutation_p.R618* NM_001172674 NP_001166146 Q96SE7 ZN347_HUMAN Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA. 617 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) GTATGAATTCGCTGATGCCTT 0.398000 43 29 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30736335 30736335 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:30736335G>A uc002dze.1 + 24 5975 c.5590G>A c.(5590-5592)Gct>Act p.A1864T SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.A1659T NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 1864 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) TCCCTCCACTGCTACCTCGTT 0.602000 86 34 0 0 1 0 0 OR2A25 392138 broad.mit.edu 37 7 143771362 143771362 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:143771362C>T uc011ktx.2 + 0 50 c.50C>T c.(49-51)cCc>cTc p.P17L NM_001004488 NP_001004488 A4D2G3 O2A25_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA. 17 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) CTGGGATTTCCCATTGGCCCA 0.493000 101 31 0 0 1 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51645900 51645900 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:51645900C>T uc002pvv.1 + 0 343 c.274C>T c.(274-276)Cgg>Tgg p.R92W SIGLEC7_uc002pvw.1_Missense_Mutation_p.R92W|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.R92W NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 92 Ig-like V-type. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) GGAGGAAACTCGGGACCGATT 0.537000 65 30 0 0 1 0 0 EXTL3 2137 broad.mit.edu 37 8 28575056 28575056 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:28575056C>T uc003xgz.1 + 2 2073 c.1480C>T c.(1480-1482)Cat>Tat p.H494Y NM_001440 NP_001431 O43909 EXTL3_HUMAN Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA. 494 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TACCGAGGTTCATTTCCTGCT 0.587000 45 18 0 0 1 0 0 KRT80 144501 broad.mit.edu 37 12 52574371 52574371 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:52574371G>A uc001rzw.3 - 1 748 c.697C>T c.(697-699)Cat>Tat p.H233Y KRT80_uc001rzy.3_Missense_Mutation_p.H198Y|KRT80_uc001rzx.3_Missense_Mutation_p.H198Y NM_182507 NP_872313 Q6KB66 K2C80_HUMAN Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA. 198 Linker 12.|Rod. keratin filament structural molecule activity endometrium(2)|large_intestine(2)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.108) TCAGTCCGATGAAGACACTCT 0.572000 68 36 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44028112 44028112 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:44028112G>A uc003bdy.2 - 18 2419 c.2105C>T c.(2104-2106)cCa>cTa p.P702L EFCAB6_uc003bdz.2_Missense_Mutation_p.P550L|EFCAB6_uc010gzi.2_Missense_Mutation_p.P550L|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_Non-coding_Transcript NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 702 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CCCTCTCATTGGAGGATCTGG 0.448000 82 43 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100684337 100684337 + Missense_Mutation SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:100684337A>G uc003uxp.1 + 2 9693 c.9640A>G c.(9640-9642)Acc>Gcc p.T3214A MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3214 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAGCATTCCAACCTCAACTCC 0.498000 169 220 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72775621 72775621 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:72775621C>T uc002llw.2 + 7 5997 c.5944C>T c.(5944-5946)Ccc>Tcc p.P1982S NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 1982 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) TGGAGTCGCTCCCCCCGAGGC 0.622000 14 8 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599747 136599747 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:136599747C>T uc003qgx.1 - 3 525 c.272G>A c.(271-273)gGt>gAt p.G91D BCLAF1_uc003qgy.1_Missense_Mutation_p.G89D|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.G89D|BCLAF1_uc003qgw.1_Missense_Mutation_p.G91D NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 91 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TCTATAACCACCTCGATGATA 0.463000 79 28 0 0 1 0 0 FLJ33360 401172 broad.mit.edu 37 5 6312573 6312573 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:6312573G>A uc003jdn.1 - 1 400 c.303C>T c.(301-303)atC>atT p.I101I Homo sapiens FLJ33360 protein (FLJ33360), non-coding RNA. CTGAGCGGCCGATCCATCTTG 0.587000 5 10 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25886955 25886955 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:25886955G>A uc001isj.3 + 10 2460 c.2400G>A c.(2398-2400)ggG>ggA p.G800G GPR158_uc001isk.3_Silent_p.G175G NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 800 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GGAACACAGGGAAATCCAAGG 0.547000 50 33 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21551745 21551745 + Missense_Mutation SNP G A A rs144860890 byFrequency TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:21551745G>A uc001bek.2 - 16 2113 c.2038C>T c.(2038-2040)Cgg>Tgg p.R680W ECE1_uc001bem.2_Missense_Mutation_p.R664W|ECE1_uc001bej.2_Missense_Mutation_p.R668W|ECE1_uc001bei.2_Missense_Mutation_p.R677W|ECE1_uc010odl.1_Missense_Mutation_p.R680W NM_001397 NP_001388 P42892 ECE1_HUMAN Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA. 680 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GCTCTCACCCGATAGGCCGCC 0.657000 30 45 0 0 1 0 0 ARL11 115761 broad.mit.edu 37 13 50204908 50204908 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:50204908G>A uc001vdf.2 + 1 660 c.325G>A c.(325-327)Gac>Aac p.D109N ARL11_uc021rjo.1_Missense_Mutation_p.D109N NM_138450 NP_612459 Q969Q4 ARL11_HUMAN Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA. 109 small GTPase mediated signal transduction intracellular GTP binding|protein binding kidney(1)|large_intestine(4)|ovary(1) 6 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169) GBM - Glioblastoma multiforme(99;1.67e-09) AGTCCTGAACGACCCCAACAT 0.567000 55 40 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131797658 131797658 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:131797658C>T uc003ytd.4 - 15 3380 c.3124G>A c.(3124-3126)Gcc>Acc p.A1042T ADCY8_uc010mds.3_Missense_Mutation_p.A911T NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 1042 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.A1042A(3) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CCTGACACGGCCATGTAGGTG 0.502000 HNSCC(32;0.087) 34 32 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8651589 8651589 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:8651589C>T uc002mkj.1 - 19 2530 c.2256G>A c.(2254-2256)caG>caA p.Q752Q ADAMTS10_uc002mki.1_Silent_p.Q239Q|ADAMTS10_uc002mkk.1_Silent_p.Q384Q NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 752 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GCAGGGACTCCTGGTCTCCCT 0.647000 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 39 0 0 1 0 0 CD1C 911 broad.mit.edu 37 1 158262565 158262565 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:158262565C>T uc001fru.3 + 3 1082 c.790C>T c.(790-792)Ctt>Ttt p.L264F CD1C_uc021pbl.1_Non-coding_Transcript NM_001765 NP_001756 P29017 CD1C_HUMAN Homo sapiens CD1c molecule (CD1C), mRNA. 264 Ig-like. T cell activation involved in immune response|antigen processing and presentation endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GACATGGTATCTTCAGGTGAT 0.527000 64 41 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39228484 39228484 + Missense_Mutation SNP C T T rs145488377 byFrequency TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:39228484C>T uc003cjk.2 - 1 2682 c.2453G>A c.(2452-2454)cGa>cAa p.R818Q XIRP1_uc003cji.3_Missense_Mutation_p.R818Q|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R818Q NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 818 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CTCCTCCTTTCGTATATAAGG 0.617000 43 33 0 0 1 0 0 MS4A10 341116 broad.mit.edu 37 11 60559752 60559752 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:60559752G>A uc001npz.1 + 3 414 c.318G>A c.(316-318)ggG>ggA p.G106G NM_206893 NP_996776 Q96PG2 M4A10_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA. 106 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 TCATTTCAGGGATCTTGGCGA 0.448000 69 46 0 0 1 0 0 ANKS3 124401 broad.mit.edu 37 16 4777098 4777098 + Missense_Mutation SNP A C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:4777098A>C uc002cxj.2 - 3 546 c.251T>G c.(250-252)aTc>aGc p.I84S ANKS3_uc002cxi.2_Missense_Mutation_p.I11S|ANKS3_uc021tcj.1_5'UTR|ANKS3_uc021tck.1_Intron|ANKS3_uc002cxk.3_Intron|ANKS3_uc010uxs.2_Missense_Mutation_p.I11S|ANKS3_uc002cxm.3_Intron NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA. 84 endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1) 19 CAGGTGCACGATTGTGTCGTG 0.542000 29 17 0 0 1 0 0 DDX11L11 0 broad.mit.edu 37 12 92116 92116 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:92116C>T uc010sdi.1 - 1 222 c.194G>A c.(193-195)tGc>tAc p.C65Y DDX11L11_uc010sdj.1_Non-coding_Transcript SubName: Full=DEAD/H box polypeptide 11 like 11; CAGCGCCAGGCAGTGGTGCAG 0.597000 14 6 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57397095 57397095 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:57397095G>A uc001sml.2 - 1 1760 c.1607C>T c.(1606-1608)gCc>gTc p.A536V ZBTB39_uc021qzg.1_Missense_Mutation_p.A536V NM_014830 NP_055645 O15060 ZBT39_HUMAN Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA. 536 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 GTGGAAGAGGGCGTCTTCCAG 0.552000 14 6 0 0 1 0 0 AL117485 0 broad.mit.edu 37 22 18844763 18844763 + RNA SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:18844763T>C uc002zoe.3 + 3 c.2017T>C AL117485_uc002zof.3_5'Flank Homo sapiens cDNA FLJ76361 complete cds. TCACAGCCTCTGAGGGCAGCA 0.562000 8 3 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126544666 126544666 + Missense_Mutation SNP T G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:126544666T>G uc003vlr.2 - 2 1110 c.799A>C c.(799-801)Aaa>Caa p.K267Q GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.K267Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 267 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGCAGGCGTTTGATAATTTTT 0.408000 HNSCC(24;0.065) 64 15 0 0 1 0 0 DNAJC18 202052 broad.mit.edu 37 5 138764372 138764372 + Splice_Site SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:138764372C>T uc003len.3 - 3 308 c.228_splice c.e3-1 p.R76_splice DNAJC18_uc010jff.3_Splice_Site_p.R76_splice NM_152686 NP_689899 Q9H819 DJC18_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 18 (DNAJC18), mRNA. 76 protein folding integral to membrane heat shock protein binding|unfolded protein binding endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) ATTTCTTGATCCTAAAAAAAA 0.373000 21 29 0 0 1 0 0 HNRNPA1 3178 broad.mit.edu 37 12 54676897 54676897 + Silent SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:54676897A>G uc001sfl.3 + 7 890 c.786A>G c.(784-786)ggA>ggG p.G262G CBX5_uc001sfk.4_5'Flank|HNRNPA1_uc001sfm.3_Intron|HNRNPA1_uc001sfn.3_Intron|HNRNPA1_uc001sfo.3_Intron|HNRNPA1_uc009znj.1_Intron NM_031157 NP_112420 P09651 ROA1_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein A1 (HNRNPA1), transcript variant 2, mRNA. 262 Gly-rich. interspecies interaction between organisms|mRNA transport|nuclear import catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|single-stranded DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 20 GTTACTCTGGAGGAAGCAGAG 0.483000 15 14 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109522810 109522810 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:109522810C>T uc010fjn.3 - 10 1621 c.1074G>A c.(1072-1074)agG>agA p.R358R EDAR_uc010yws.2_Silent_p.R358R|EDAR_uc002teq.4_Silent_p.R326R NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 326 Death. R -> Q (in EDA). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 GGATCTTTTTCCTCCGGCTTT 0.507000 41 31 0 0 1 0 0 PPP1R21 129285 broad.mit.edu 37 2 48678188 48678188 + Missense_Mutation SNP T G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:48678188T>G uc002rwm.3 + 1 284 c.99T>G c.(97-99)gaT>gaG p.D33E PPP1R21_uc002rwi.1_Missense_Mutation_p.D33E|PPP1R21_uc002rwj.3_Missense_Mutation_p.D33E|PPP1R21_uc002rwl.3_5'UTR|PPP1R21_uc002rwk.3_Missense_Mutation_p.D33E|PPP1R21_uc010yok.2_Missense_Mutation_p.D33E NM_001135629 NP_001129101 Q6ZMI0 KLRAQ_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA. 33 endometrium(2)|kidney(4)|lung(9) 15 GTGTTGTGGATGAACAAGCAA 0.383000 51 37 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75022393 75022393 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:75022393G>A uc001xqa.3 - 3 1221 c.834C>T c.(832-834)acC>acT p.T278T NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 278 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGCCACTCAGGGTCCTGTGGA 0.627000 8 19 0 0 1 0 0 HAPLN3 145864 broad.mit.edu 37 15 89422470 89422470 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:89422470C>T uc002bnd.3 - 4 791 c.710G>A c.(709-711)gGg>gAg p.G237E HAPLN3_uc002bnc.3_Missense_Mutation_p.G175E|HAPLN3_uc002bne.3_Non-coding_Transcript NM_178232 NP_839946 Q96S86 HPLN3_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA. 175 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding p.P236P(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) CTGGTAGCGCCCGTTGGGGGA 0.657000 OREG0023445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 18 0 0 1 0 0 GPBP1L1 60313 broad.mit.edu 37 1 46120896 46120896 + Silent SNP A T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:46120896A>T uc001coq.3 - 4 1517 c.156T>A c.(154-156)ggT>ggA p.G52G NM_021639 NP_067652 Q9HC44 GPBL1_HUMAN Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA. 52 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding GPBP1L1/MAST2_ENST00000361297(2) breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1) 21 Acute lymphoblastic leukemia(166;0.155) TGTTAAAAAAACCATCAGAGG 0.478000 125 12 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140745897 140745897 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140745897G>A uc003lju.2 + 0 2000 c.2000G>A c.(1999-2001)aGg>aAg p.R667K PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.R667K NM_018918 NP_061741 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA. 669 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGCCGACAGGATCCCTGAC 0.612000 167 27 0 0 1 0 0 AKR1CL1 340811 broad.mit.edu 37 10 5203833 5203833 + RNA SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:5203833G>A uc009xhz.2 - 2 c.447C>T Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA. cervix(1)|endometrium(1)|large_intestine(2)|lung(2) 6 ATAGCAAATGGTACATGAATA 0.408000 13 15 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203696666 203696666 + Silent SNP C A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:203696666C>A uc001gzw.3 + 19 4173 c.3276C>A c.(3274-3276)ctC>ctA p.L1092L ATP2B4_uc001gzv.3_Silent_p.L1092L|ATP2B4_uc009xaq.3_Silent_p.L1092L|ATP2B4_uc001gzx.3_Silent_p.L123L|ATP2B4_uc009xar.3_Silent_p.L87L|ATP2B4_uc010pqj.1_5'Flank|U42379_uc010pqk.1_5'Flank|SNORA77_uc001gzy.1_5'Flank NM_001684 NP_001675 P23634 AT2B4_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA. 1092 Calmodulin-binding subdomain A. ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) GCCAGATCCTCTGGTTCCGGG 0.577000 115 5 1 1 1 1 0 PCDHB5 26167 broad.mit.edu 37 5 140516390 140516390 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140516390C>T uc003liq.3 + 0 1591 c.1374C>T c.(1372-1374)ttC>ttT p.F458F NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN Homo sapiens protocadherin beta 5 (PCDHB5), mRNA. 458 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGTTCGTCCGAGAGA 0.617000 57 60 0 0 1 0 0 TREML3P 340206 broad.mit.edu 37 6 41185457 41185457 + RNA SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:41185457C>T uc003oqb.3 - 0 c.229G>A Homo sapiens triggering receptor expressed on myeloid cells-like 3 (TREML3), non-coding RNA. TTGTAGATTTCACACCAGTAG 0.448000 2 4 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72969286 72969286 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:72969286G>A uc001sxa.3 + 11 2180 c.2150G>A c.(2149-2151)cGa>cAa p.R717Q NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA. 717 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 GTCAGTAACCGAGCGGGCTTG 0.388000 31 22 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101847763 101847763 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:101847763C>T uc003uys.4 + 18 3160 c.3033C>T c.(3031-3033)atC>atT p.I1011I CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.I1000I NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 1000 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 AACCCTTCATCCGGATGCAGC 0.647000 115 34 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82453632 82453632 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:82453632G>A uc003uhx.2 - 18 14805 c.14516C>T c.(14515-14517)tCc>tTc p.S4839F PCLO_uc003uhv.2_Missense_Mutation_p.S4839F|PCLO_uc003uht.1_Missense_Mutation_p.S281F|PCLO_uc003uhu.1_Missense_Mutation_p.S260F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4701 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.S4839S(1) 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 GCTCTGACTGGAATGAGACTT 0.428000 23 33 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36778887 36778887 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:36778887C>T uc003cgi.2 - 1 1755 c.1264G>A c.(1264-1266)Gaa>Aaa p.E422K NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 422 Protein kinase. E -> K (in a colorectal adenocarcinoma sample; somatic mutation). cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.E422K(2)|p.Y421Y(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 ATGTCTGTTTCGTAGACTTCA 0.507000 43 29 0 0 1 0 0 TNFRSF8 943 broad.mit.edu 37 1 12186103 12186103 + Missense_Mutation SNP C T T rs140319459 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:12186103C>T uc001atq.3 + 10 1471 c.1249C>T c.(1249-1251)Cgg>Tgg p.R417W TNFRSF8_uc010obc.2_Missense_Mutation_p.R306W|TNFRSF8_uc001atr.3_5'UTR|TNFRSF8_uc001ats.3_5'UTR NM_001243 NP_001234 P28908 TNR8_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA. 417 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of TRAIL biosynthetic process|positive regulation of apoptosis|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) GAAGCGAATTCGGCAGAGTAA 0.632000 91 27 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48697088 48697088 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:48697088C>T uc003cuf.1 - 2 3190 c.3190G>A c.(3190-3192)Ggc>Agc p.G1064S CELSR3_uc003cul.3_Missense_Mutation_p.G994S NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 994 Cadherin 7. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TGGACCCGGCCATTGGCATGA 0.547000 21 16 0 0 1 0 0 RAB18 22931 broad.mit.edu 37 10 27822666 27822666 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:27822666T>C uc001itv.3 + 4 312 c.262T>C c.(262-264)Tat>Cat p.Y88H RAB18_uc001itw.3_Missense_Mutation_p.Y117H|RAB18_uc010qdq.2_Missense_Mutation_p.Y88H|RAB18_uc010qdr.2_Intron NM_021252 NP_067075 Q9NP72 RAB18_HUMAN Homo sapiens RAB18, member RAS oncogene family (RAB18), transcript variant 1, mRNA. 88 endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction intracellular|plasma membrane ATP binding|GTP binding|GTPase activity|transcription factor binding kidney(1)|large_intestine(1)|lung(1) 3 TATTTCAGTTTATGATGTCAC 0.303000 34 23 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53352422 53352422 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:53352422C>T uc002qaf.3 - 2 211 c.60G>A c.(58-60)gaG>gaA p.E20E ZNF468_uc002qae.3_5'UTR NM_001008801 NP_954583 Q5VIY5 ZN468_HUMAN Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA. 20 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) ATTTCCACTCCTCCTGAGAGA 0.458000 191 10 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103307739 103307739 + Silent SNP G A A rs139159922 byFrequency TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:103307739G>A uc003ykr.2 - 29 4289 c.3834C>T c.(3832-3834)ttC>ttT p.F1278F UBR5_uc003yks.2_Silent_p.F1278F NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 1278 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCTGTACTAAGAATAGTAAGA 0.488000 42 39 0 0 1 0 0 FGF12 2257 broad.mit.edu 37 3 192125916 192125916 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:192125916G>A uc003fsx.3 - 0 923 c.97C>T c.(97-99)Ccc>Tcc p.P33S FGF12_uc003fsy.3_Intron NM_021032 NP_066360 P61328 FGF12_HUMAN Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA. 33 JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TCTTTGCTGGGGCTGGAGCGG 0.677000 58 48 0 0 1 0 0 STX5 6811 broad.mit.edu 37 11 62592569 62592569 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:62592569G>A uc001nvh.3 - 7 775 c.618C>T c.(616-618)agC>agT p.S206S STX5_uc010rmj.2_Silent_p.S206S|STX5_uc010rmi.2_Silent_p.S110S NM_003164 NP_003155 Q13190 STX5_HUMAN Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA. 206 intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|SNARE complex|integral to membrane|nucleus SNAP receptor activity|protein N-terminus binding breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 GCTCTCTCCGGCTCCTCTGCT 0.582000 25 18 0 0 1 0 0 EXOSC10 5394 broad.mit.edu 37 1 11151116 11151116 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:11151116G>A uc001asa.3 - 4 648 c.598C>T c.(598-600)Cct>Tct p.P200S EXOSC10_uc001asb.3_Missense_Mutation_p.P200S|EXOSC10_uc009vmy.1_Missense_Mutation_p.P200S NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA. 200 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) AAGATTTTAGGAAGAAATGGT 0.393000 94 52 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73945826 73945826 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:73945826G>A uc002jqe.3 - 9 1812 c.1451C>T c.(1450-1452)aCc>aTc p.T484I ACOX1_uc010wsq.2_Missense_Mutation_p.T446I|ACOX1_uc010wsr.2_Missense_Mutation_p.T416I|ACOX1_uc002jqf.3_Missense_Mutation_p.T484I NM_004035 NP_001171968 Q15067 ACOX1_HUMAN Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA. 484 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 ATATGCTTCGGTTAGGCTTTC 0.562000 55 45 0 0 1 0 0 ACTRT2 140625 broad.mit.edu 37 1 2939042 2939042 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:2939042C>T uc001ajz.3 + 0 997 c.792C>T c.(790-792)ttC>ttT p.F264F NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN Homo sapiens actin-related protein T2 (ACTRT2), mRNA. 264 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) AGGCCCTGTTCGTGCCCCAGC 0.642000 58 56 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81150981 81150981 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:81150981C>T uc002fgh.1 - 40 6762 c.6762G>A c.(6760-6762)agG>agA p.R2254R PKD1L2_uc002fgf.1_Silent_p.R56R|PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 2256 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTGACTCCTCCCTGTGGTTCC 0.642000 18 15 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242181883 242181883 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:242181883C>T uc002waz.3 - 16 2334 c.2161G>A c.(2161-2163)Gag>Aag p.E721K HDLBP_uc002wba.3_Missense_Mutation_p.E721K|HDLBP_uc021vzg.1_Missense_Mutation_p.E688K NM_203346 NP_976221 Q00341 VIGLN_HUMAN Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA. 721 KH 8. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane RNA binding|lipid binding|protein binding breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ACCTTCTCCTCCGCCAGATGC 0.572000 30 12 0 0 1 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996221 143996221 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:143996221G>A uc003yxk.1 - 3 702 c.699C>T c.(697-699)tcC>tcT p.S233S NM_000498 NP_000489 P19099 C11B2_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA. 233 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3) 39 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GCTGGACGGTGGATTTGAACA 0.582000 Familial Hyperaldosteronism type I 20 30 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52714852 52714852 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:52714852C>T uc001saf.2 - 0 331 c.268G>A c.(268-270)Gag>Aag p.E90K NM_002282 NP_002273 P78385 KRT83_HUMAN Homo sapiens keratin 83 (KRT83), mRNA. 90 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) AGGAGGCTCTCGTTGACCGAC 0.667000 133 51 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145359137 145359137 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:145359137C>T uc021oul.1 + 71 9112 c.9077C>T c.(9076-9078)gCc>gTc p.A3026V NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_5'Flank NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3026 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TACAGAAGTGCCTTTTATGTA 0.458000 438 11 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93837781 93837781 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:93837781G>A uc001pep.2 + 15 2927 c.2770G>A c.(2770-2772)Gaa>Aaa p.E924K AF086184_uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN Homo sapiens hephaestin-like 1 (HEPHL1), mRNA. 924 Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CGTTGATTATGAATTTGCTCT 0.363000 57 27 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98457810 98457810 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:98457810G>A uc003upo.3 - 2 732 c.543C>T c.(541-543)ttC>ttT p.F181F TMEM130_uc011kiq.2_Silent_p.F162F|TMEM130_uc011kir.2_Silent_p.F181F|TMEM130_uc003upn.3_Silent_p.F79F NM_001134450 NP_001127922 Q8N3G9 TM130_HUMAN Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA. 181 PKD. Golgi membrane|integral to membrane p.F181F(2) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ACCCGTCCCCGAAGTCCCAGC 0.582000 23 25 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25965571 25965571 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:25965571G>A uc002rgs.2 - 11 3856 c.3635C>T c.(3634-3636)tCa>tTa p.S1212L ASXL2_uc002rgt.1_Missense_Mutation_p.S695L NM_018263 NP_060733 Q76L83 ASXL2_HUMAN Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA. 1212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGAGGTCCTGAACTTGTGTC 0.473000 40 31 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119568061 119568061 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:119568061G>A uc004bjt.2 - 11 2194 c.2093C>T c.(2092-2094)tCc>tTc p.S698F ASTN2_uc022bml.1_Missense_Mutation_p.S394F|ASTN2_uc022bmm.1_Missense_Mutation_p.S398F NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 749 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CATTAAGCAGGATTTTCCATC 0.478000 91 43 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126202270 126202270 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:126202270C>T uc010hsi.2 - 19 2066 c.2012G>A c.(2011-2013)gGt>gAt p.G671D UROC1_uc003eiz.2_Missense_Mutation_p.G611D NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 611 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) CTCCGGGGTACCGTCCAGCAC 0.627000 32 8 0 0 1 0 0 CDH3 1001 broad.mit.edu 37 16 68714894 68714894 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:68714894C>T uc002ewf.2 + 7 2023 c.891C>T c.(889-891)acC>acT p.T297T CDH3_uc010vli.1_Silent_p.T242T NM_001793 NP_001784 P22223 CADH3_HUMAN Homo sapiens cadherin 3, type 1, P-cadherin (placental) (CDH3), mRNA. 297 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) ACACACTGACCATCCAGGCCA 0.567000 56 28 0 0 1 0 0 RIPK4 54101 broad.mit.edu 37 21 43176851 43176851 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr21:43176851G>A uc002yzn.1 - 1 356 c.308C>T c.(307-309)tCc>tTc p.S103F NM_020639 NP_065690 Q96T11 Q96T11_HUMAN Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA. 103 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity p.S103F(2) NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CTTTTCCAGGGAGCCCGTCTC 0.587000 36 25 0 0 1 0 0 HP1BP3 50809 broad.mit.edu 37 1 21100054 21100054 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:21100054G>A uc001bdy.1 - 3 500 c.400C>T c.(400-402)Cct>Tct p.P134S HP1BP3_uc001bdv.1_Missense_Mutation_p.P96S|HP1BP3_uc001bdw.1_Missense_Mutation_p.P134S|HP1BP3_uc010odh.1_Missense_Mutation_p.P96S|HP1BP3_uc001bea.2_Missense_Mutation_p.P133S|HP1BP3_uc010odg.1_5'UTR NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA. 134 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1) 16 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) GCCCAGGAAGGAATTGTTTTT 0.418000 24 9 0 0 1 0 0 ANXA2 302 broad.mit.edu 37 9 33624805 33624805 + Silent SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:33624805A>G uc010mjx.3 + 0 583 c.534A>G c.(532-534)agA>agG p.R178R DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank NM_004039 NP_004030 P07355 ANXA2_HUMAN Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA. 178 angiogenesis|positive regulation of vesicle fusion|skeletal system development basement membrane|melanosome|midbody|soluble fraction calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031) CAAAGGGTAGAAGAGCAGAGG 0.473000 OREG0019140 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 23 0 0 1 0 0 AADACL4 343066 broad.mit.edu 37 1 12704715 12704715 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:12704715C>T uc001auf.3 + 0 150 c.150C>T c.(148-150)ttC>ttT p.F50F NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA. 50 integral to membrane carboxylesterase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1) 17 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) ATTGCATATTCCTCTACCTGG 0.507000 117 41 0 0 1 0 0 USHBP1 83878 broad.mit.edu 37 19 17369132 17369132 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:17369132C>T uc002nfs.1 - 7 1222 c.1109G>A c.(1108-1110)gGa>gAa p.G370E USHBP1_uc002nfr.1_5'UTR|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.G306E NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA. 370 PDZ domain binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 GGCTTCGTCTCCTGCTCCTGA 0.572000 67 24 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457655 110457655 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:110457655G>A uc003yne.3 + 37 5661 c.5557G>A c.(5557-5559)Gga>Aga p.G1853R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1853 IPT/TIG 11. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GGTGATCACAGGAAATGGCTT 0.502000 HNSCC(38;0.096) 28 24 0 0 1 0 0 ALG9 79796 broad.mit.edu 37 11 111711514 111711514 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:111711514G>A uc010rwn.2 - 8 998 c.899C>T c.(898-900)cCg>cTg p.P300L ALG9_uc001ply.3_Missense_Mutation_p.P175L|ALG9_uc001plz.3_Missense_Mutation_p.P175L|ALG9_uc021qql.1_Missense_Mutation_p.P175L|ALG9_uc021qqm.1_Missense_Mutation_p.P175L|ALG9_uc010rwo.2_Missense_Mutation_p.P174L|ALG9_uc009yyh.1_Missense_Mutation_p.P241L NM_001077692 NP_001071160 Q9H6U8 ALG9_HUMAN Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) (ALG9), transcript variant 4, mRNA. 346 GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587) AAGCCAATACGGGTGGCCTAA 0.343000 43 29 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42103103 42103104 + Missense_Mutation DNP CC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:42103103_42103104CC>TT uc001zok.4 + 3 515_516 c.229_230CC>TT c.(229-231)ccc>TTc p.P77F MAPKBP1_uc010bci.3_Missense_Mutation_p.P77F|MAPKBP1_uc010udb.2_5'UTR|MAPKBP1_uc001zoj.4_Missense_Mutation_p.P77F|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'Flank NM_001128608 NP_001122080 O60336 MABP1_HUMAN Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA. 77 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GTTGTTCAATCCCCGGAAACAC 0.559000 53 27 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980875 121980875 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:121980875G>A uc003eew.4 + 3 1431 c.993G>A c.(991-993)cgG>cgA p.R331R CASR_uc003eev.4_Silent_p.R331R NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 331 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CAGGCTTCCGGGAATTCCTGA 0.547000 33 19 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67083609 67083609 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:67083609G>A uc002jhw.1 - 28 3879 c.3704C>T c.(3703-3705)tCc>tTc p.S1235F NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 1235 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ACTTTGGGGGGAAATTCTATG 0.378000 96 109 0 0 1 0 0 NAGLU 4669 broad.mit.edu 37 17 40695668 40695668 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:40695668C>T uc002hzv.3 + 5 1984 c.1644C>T c.(1642-1644)ccC>ccT p.P548P NM_000263 NP_000254 P54802 ANAG_HUMAN Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA. 548 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CATCTGCTCCCTCCCTGGCCA 0.622000 16 8 0 0 1 0 0 ARID3A 1820 broad.mit.edu 37 19 968479 968479 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:968479G>A uc002lql.3 + 7 1860 c.1570G>A c.(1570-1572)Gag>Aag p.E524K NM_005224 NP_005215 Q99856 ARI3A_HUMAN Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA. 524 REKLES. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1) 10 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CATGTCGGTGGAGATCAACGG 0.602000 41 16 0 0 1 0 0 FAM5C 339479 broad.mit.edu 37 1 190129940 190129940 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:190129940C>T uc001gse.1 - 6 1274 c.1042G>A c.(1042-1044)Gat>Aat p.D348N FAM5C_uc010pot.1_Missense_Mutation_p.D246N NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 348 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AAATTAGAATCCATTGTCCAC 0.338000 75 21 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121976030 121976030 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:121976030G>A uc003eew.4 + 2 726 c.288G>A c.(286-288)agG>agA p.R96R CASR_uc003eev.4_Silent_p.R96R NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 96 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TGGGATACAGGATATTTGACA 0.443000 62 34 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100461583 100461583 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:100461583G>A uc003huw.3 + 7 1213 c.851G>A c.(850-852)gGa>gAa p.G284E C4orf17_uc003hux.3_Non-coding_Transcript NM_032149 NP_115525 Q53FE4 CD017_HUMAN Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA. 284 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) TCAAGTCAAGGATCTGAAGAA 0.333000 56 27 0 0 1 0 0 OR8D2 283160 broad.mit.edu 37 11 124189289 124189289 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:124189289C>T uc010sah.2 - 0 805 c.805G>A c.(805-807)Gaa>Aaa p.E269K NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TTCTCTTTTTCCATAGTAGTG 0.428000 98 66 0 0 1 0 0 OR2W3 343171 broad.mit.edu 37 1 248059693 248059693 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:248059693G>A uc010pzb.2 + 0 805 c.805G>A c.(805-807)Gac>Aac p.D269N OR2W3_uc001idp.1_Missense_Mutation_p.D269N NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA. 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTCTTCCCAGGACCAGGGCAT 0.542000 73 24 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10998218 10998218 + RNA SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr21:10998218G>A uc002yis.1 - 10 c.2035C>T P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGGTCTGTATGGTTTCCTTTT 0.358000 75 18 0 0 1 0 0 NOL11 25926 broad.mit.edu 37 17 65720284 65720284 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:65720284G>A uc002jgd.1 + 5 642 c.639G>A c.(637-639)cgG>cgA p.R213R NOL11_uc010wql.1_Silent_p.R31R|NOL11_uc010deu.1_5'UTR NM_015462 NP_056277 Q9H8H0 NOL11_HUMAN Homo sapiens nucleolar protein 11 (NOL11), mRNA. 213 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) CTGTAGATCGGAAATTCATCT 0.308000 21 21 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117744240 117744240 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:117744240C>T uc004eqp.2 + 27 3018 c.2955C>T c.(2953-2955)ccC>ccT p.P985P DOCK11_uc004eqq.2_Silent_p.P751P NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 985 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TTCAGCTTCCCCGAGGCCAGA 0.383000 6 15 0 0 1 0 0 TSPO2 222642 broad.mit.edu 37 6 41010893 41010893 + Missense_Mutation SNP G T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:41010893G>T uc003opj.3 + 1 470 c.169G>T c.(169-171)Gtg>Ttg p.V57L UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.3_Silent_p.S66S|TSPO2_uc011dub.2_Missense_Mutation_p.V57L NM_001010873 NP_001153198 Q5TGU0 TSPO2_HUMAN Homo sapiens translocator protein 2 (TSPO2), transcript variant 1, mRNA. 57 transport endoplasmic reticulum membrane|integral to membrane cholesterol binding|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 CTACTCTGTCGTGGGGTGAGT 0.498000 68 29 2.42023e-17 2.45846e-17 1 1 0 PCDH15 65217 broad.mit.edu 37 10 56077108 56077108 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:56077108G>A uc010qhy.1 - 8 1209 c.814C>T c.(814-816)Cct>Tct p.P272S PCDH15_uc010qhq.2_Missense_Mutation_p.P272S|PCDH15_uc010qhr.2_Missense_Mutation_p.P267S|PCDH15_uc021pqv.1_Missense_Mutation_p.P267S|PCDH15_uc021pqw.1_Missense_Mutation_p.P272S|PCDH15_uc010qht.2_Missense_Mutation_p.P267S|PCDH15_uc021pqx.1_Missense_Mutation_p.P267S|PCDH15_uc001jjv.1_Missense_Mutation_p.P245S|PCDH15_uc021pqy.1_Missense_Mutation_p.P267S|PCDH15_uc021pqz.1_Missense_Mutation_p.P245S|PCDH15_uc010qhv.1_Missense_Mutation_p.P267S|PCDH15_uc010qhw.1_Missense_Mutation_p.P230S|PCDH15_uc010qhx.1_Missense_Mutation_p.P267S|PCDH15_uc010qhz.1_Missense_Mutation_p.P267S|PCDH15_uc010qia.1_Missense_Mutation_p.P245S|PCDH15_uc001jju.1_Missense_Mutation_p.P267S|PCDH15_uc010qib.1_Missense_Mutation_p.P245S|PCDH15_uc001jjw.3_Missense_Mutation_p.P267S NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 267 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AGGACACAAGGAAGAAACATT 0.478000 HNSCC(58;0.16) 39 39 0 0 1 0 0 BEST3 144453 broad.mit.edu 37 12 70088210 70088210 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:70088210C>T uc001svg.3 - 2 414 c.187G>A c.(187-189)Gaa>Aaa p.E63K BEST3_uc001svd.2_Missense_Mutation_p.E63K|BEST3_uc010stm.2_Intron|BEST3_uc001svi.1_Intron NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA. 63 chloride channel complex|plasma membrane chloride channel activity p.E63Q(1) cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) GATAATTTTTCAAAGTAACGT 0.378000 14 8 0 0 1 0 0 AK302879 0 broad.mit.edu 37 15 76074431 76074431 + Missense_Mutation SNP C T T rs149323153 by1000genomes TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:76074431C>T uc010umm.1 + 7 610 c.533C>T c.(532-534)tCg>tTg p.S178L DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6; p.S190L(2) CTCCAGTCCTCGAGCTGCAGA 0.547000 32 6 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31039847 31039847 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:31039847C>T uc002nsu.1 + 3 3459 c.3321C>T c.(3319-3321)ttC>ttT p.F1107F ZNF536_uc010edd.1_Silent_p.F1107F NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 1107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TTTGTAACTTCCCATCAGACT 0.562000 45 17 0 0 1 0 0 ADORA3 140 broad.mit.edu 37 1 112043053 112043053 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:112043053C>T uc001ebh.4 - 1 1243 c.476G>A c.(475-477)aGa>aAa p.R159K ADORA3_uc001ebg.4_Intron|ADORA3_uc001ebf.3_Intron NM_000677 NP_000668 P33765 AA3R_HUMAN Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 2, mRNA. 159 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) GGTGACATTTCTGTGGTACTC 0.493000 64 41 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20998665 20998665 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:20998665C>T uc010vbe.2 - 46 6988 c.6988G>A c.(6988-6990)Gaa>Aaa p.E2330K DNAH3_uc010vbd.2_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2330 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GAGGTGGTTTCCTTCACCATG 0.423000 54 27 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74865707 74865707 + Missense_Mutation SNP C T T rs62562043 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:74865707C>T uc004air.3 + 14 1612 c.1403C>T c.(1402-1404)cCa>cTa p.P468L GDA_uc011lse.2_3'UTR|GDA_uc004aiq.3_3'UTR|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_3'UTR|GDA_uc004ais.3_Missense_Mutation_p.P390L NM_001242505 NP_001229434 Q9Y2T3 GUAD_HUMAN Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA. 0 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CCCCATCCTCCACCATTTCCT 0.333000 83 72 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50217580 50217580 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:50217580G>A uc011arg.2 - 0 400 c.386C>T c.(385-387)cCt>cTt p.P129L BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.P129L|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.P129L NM_014577 NP_055392 O95696 BRD1_HUMAN Homo sapiens bromodomain containing 1 (BRD1), mRNA. 129 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GGCGGACGGAGGGCTGTACTC 0.632000 56 43 0 0 1 0 0 METTL21C 196541 broad.mit.edu 37 13 103338770 103338770 + Nonsense_Mutation SNP G A A rs141134679 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:103338770G>A uc001vpj.3 - 3 412 c.406C>T c.(406-408)Caa>Taa p.Q136* NM_001010977 NP_001010977 Q5VZV1 MT21C_HUMAN Homo sapiens methyltransferase like 21C (METTL21C), mRNA. 136 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 GCTGTGACTTGAGCTCCTAAG 0.408000 24 10 0 0 1 0 0 ZFP90 146198 broad.mit.edu 37 16 68597303 68597303 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:68597303C>T uc010cff.3 + 4 905 c.613C>T c.(613-615)Ctt>Ttt p.L205F ZFP90_uc002ewb.3_Silent_p.F10F|ZFP90_uc002ewc.3_Silent_p.F10F|ZFP90_uc002ewd.3_Missense_Mutation_p.L205F|ZFP90_uc002ewe.3_Missense_Mutation_p.L205F NM_133458 NP_597715 Q8TF47 ZFP90_HUMAN Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA. 205 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) GAATAATATTCTTGCAAAAAA 0.358000 29 23 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24773136 24773136 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:24773136G>A uc003xed.4 + 1 1132 c.1099G>A c.(1099-1101)Gaa>Aaa p.E367K NEFM_uc011lac.1_Missense_Mutation_p.E367K|NEFM_uc010lue.3_5'UTR NM_005382 NP_005373 P07197 NFM_HUMAN Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA. 367 Coil 2B.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CCAGCAGCTGGAAAATGAGCT 0.517000 48 22 0 0 1 0 0 MON2 23041 broad.mit.edu 37 12 62931023 62931023 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:62931023C>T uc001sre.3 + 14 2384 c.1993C>T c.(1993-1995)Cag>Tag p.Q665* MON2_uc010ssn.2_Nonsense_Mutation_p.Q665*|MON2_uc009zqj.3_Nonsense_Mutation_p.Q665*|MON2_uc010ssl.2_Nonsense_Mutation_p.Q593*|MON2_uc010ssm.2_Nonsense_Mutation_p.Q642*|MON2_uc001srf.3_Nonsense_Mutation_p.Q428* NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA. 665 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TTTAGCAGTCCAGCCTCAAGG 0.398000 25 16 0 0 1 0 0 RSBN1 54665 broad.mit.edu 37 1 114311009 114311009 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:114311009G>A uc001edq.3 - 4 1697 c.1661C>T c.(1660-1662)tCa>tTa p.S554L RSBN1_uc001edr.3_Non-coding_Transcript NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA. 554 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCATTCATTGATCTAGAGTT 0.373000 5 18 0 0 1 0 0 OXR1 55074 broad.mit.edu 37 8 107718959 107718959 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:107718959G>A uc011lht.2 + 7 1312 c.1213G>A c.(1213-1215)Gaa>Aaa p.E405K OXR1_uc022azp.1_Missense_Mutation_p.E404K|OXR1_uc003ymf.3_Missense_Mutation_p.E404K|OXR1_uc011lhu.2_Missense_Mutation_p.E397K|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Missense_Mutation_p.E102K|OXR1_uc003ymg.1_Missense_Mutation_p.E337K|OXR1_uc003ymi.1_Missense_Mutation_p.E316K NM_001198532 NP_001185461 Q8N573 OXR1_HUMAN Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA. 405 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) TTCTACAAATGAAGTTGGGAC 0.358000 55 17 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31334343 31334343 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:31334343G>A uc021sia.1 - 15 2263 c.1949C>T c.(1948-1950)cCc>cTc p.P650L TRPM1_uc010azy.3_Missense_Mutation_p.P518L|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.P633L|TRPM1_uc001zfm.3_Missense_Mutation_p.P611L NM_001252020 NP_001238949 Q7Z4N2 TRPM1_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA. 611 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CTCGTGGAAGGGATACTGGAA 0.532000 17 8 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75407925 75407925 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:75407925C>T uc001jut.4 - 3 1637 c.1485G>A c.(1483-1485)gcG>gcA p.A495A SYNPO2L_uc001jus.4_Silent_p.A271A NM_001114133 NP_001107605 Q9H987 SYP2L_HUMAN Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA. 495 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) GGCTGTCGTTCGCCCTTTTGG 0.652000 24 6 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810258 106810258 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:106810258G>A uc009yxn.1 - 3 1524 c.1134C>T c.(1132-1134)gtC>gtT p.V378V GUCY1A2_uc001pjg.1_Silent_p.V378V|GUCY1A2_uc010rvo.1_Silent_p.V378V NM_000855 NP_000846 P33402 GCYA2_HUMAN Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA. 378 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GTCGCAGCAGGACCCTTTCAA 0.463000 56 24 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185191163 185191163 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:185191163C>T uc010hyf.3 + 11 2335 c.2044C>T c.(2044-2046)Cca>Tca p.P682S MAP3K13_uc011brt.2_Missense_Mutation_p.P475S|MAP3K13_uc011bru.2_Missense_Mutation_p.P538S|MAP3K13_uc003fpi.3_Missense_Mutation_p.P682S|MAP3K13_uc010hyg.3_Missense_Mutation_p.P372S NM_001242314 NP_001229243 O43283 M3K13_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA. 682 JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding p.P682S(3) NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) CCTGCGGAGCCCACTCAGCAA 0.592000 60 30 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21338364 21338364 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:21338364C>T uc002kuq.3 + 6 1038 c.952C>T c.(952-954)Cgg>Tgg p.R318W LAMA3_uc010dlv.2_Missense_Mutation_p.R318W|LAMA3_uc002kur.3_Missense_Mutation_p.R318W NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 318 Domain V.|Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCCAGGTTTCGGTGTGAATG 0.557000 20 18 0 0 1 0 0 PLXDC1 57125 broad.mit.edu 37 17 37265584 37265584 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:37265584C>T uc002hrg.2 - 2 528 c.316G>A c.(316-318)Gaa>Aaa p.E106K PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript NM_020405 NP_065138 Q8IUK5 PXDC1_HUMAN Homo sapiens plexin domain containing 1 (PLXDC1), mRNA. 106 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 ACCCACAGTTCCCGGCTGTGG 0.602000 21 17 0 0 1 0 0 HHIP 64399 broad.mit.edu 37 4 145580038 145580038 + Missense_Mutation SNP G A A rs149139999 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:145580038G>A uc003ijs.2 + 2 1249 c.569G>A c.(568-570)gGa>gAa p.G190E HHIP_uc003ijr.2_Missense_Mutation_p.G190E NM_022475 NP_071920 Q96QV1 HHIP_HUMAN Homo sapiens hedgehog interacting protein (HHIP), mRNA. 190 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) CAAGTCAGAGGACCAGCATCT 0.368000 46 29 0 0 1 0 0 OR4X2 119764 broad.mit.edu 37 11 48266760 48266760 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:48266760C>T uc001ngs.1 + 0 105 c.105C>T c.(103-105)ttC>ttT p.F35F NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA. 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TGGGGAATTTCCTCATTGTGC 0.473000 76 42 0 0 1 0 0 ANKRD11 29123 broad.mit.edu 37 16 89347138 89347138 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:89347138G>A uc002fmx.1 - 8 6273 c.5812C>T c.(5812-5814)Ccc>Tcc p.P1938S ANKRD11_uc002fmy.1_Missense_Mutation_p.P1938S|ANKRD11_uc002fnc.1_Missense_Mutation_p.P1938S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.P1895S NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 1938 Pro-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GCGCTGAAGGGACCCTCGTCC 0.697000 47 21 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19184014 19184014 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:19184014G>A uc001bba.1 - 1 295 c.294C>T c.(292-294)atC>atT p.I98I NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA. 98 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) ACACATCCACGATCTCATAGC 0.542000 48 58 0 0 1 0 0 STON2 85439 broad.mit.edu 37 14 81744869 81744869 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:81744869G>A uc010tvu.2 - 3 984 c.786C>T c.(784-786)atC>atT p.I262I STON2_uc001xvk.1_Silent_p.I262I|STON2_uc010tvt.2_Silent_p.I59I NM_033104 NP_149095 Q8WXE9 STON2_HUMAN Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA. 262 endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5) 34 BRCA - Breast invasive adenocarcinoma(234;0.0348) GTACATCTGGGATCACAGATG 0.458000 29 33 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87407231 87407231 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:87407231G>A uc003ujb.3 + 8 1378 c.967G>A c.(967-969)Gaa>Aaa p.E323K RUNDC3B_uc011khd.1_Missense_Mutation_p.E306K|RUNDC3B_uc011khe.2_Missense_Mutation_p.E306K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.E306K|RUNDC3B_uc003ujd.3_Missense_Mutation_p.E228K NM_138290 NP_612147 Q96NL0 RUN3B_HUMAN Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA. 323 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) ACTGGAGAAGGAACAATTAGA 0.358000 54 12 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21032374 21032374 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:21032374C>T uc010sil.2 + 8 1205 c.1140C>T c.(1138-1140)atC>atT p.I380I SLCO1B3_uc001rek.3_Silent_p.I380I|SLCO1B3_uc001rel.3_Silent_p.I380I|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 380 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) TTCTAGGAATCATAACCATTC 0.264000 18 3 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88428503 88428503 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:88428503G>A uc001kdv.3 + 0 78 c.55G>A c.(55-57)Ggg>Agg p.G19R LDB3_uc010qml.1_Missense_Mutation_p.G19R|LDB3_uc010qmm.2_Missense_Mutation_p.G19R|LDB3_uc009xsz.3_5'UTR|LDB3_uc001kdu.3_Missense_Mutation_p.G19R|LDB3_uc001kdr.3_Missense_Mutation_p.G19R|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Missense_Mutation_p.G19R|LDB3_uc001kds.3_Missense_Mutation_p.G19R NM_007078 NP_009009 O75112 LDB3_HUMAN Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA. 19 PDZ. cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 CCGTCTGCAGGGGGGCAAGGA 0.652000 50 36 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68326039 68326039 + Missense_Mutation SNP A C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:68326039A>C uc001onv.3 + 7 1004 c.737A>C c.(736-738)gAa>gCa p.E246A PPP6R3_uc001onw.3_Missense_Mutation_p.E246A|PPP6R3_uc001ony.4_Missense_Mutation_p.E246A|PPP6R3_uc001onx.3_Missense_Mutation_p.E246A|PPP6R3_uc009ysh.3_Missense_Mutation_p.E246A|PPP6R3_uc001onu.3_Missense_Mutation_p.E246A|PPP6R3_uc010rqc.2_Intron|PPP6R3_uc010rqd.2_5'UTR NM_001164160 NP_001157632 Q5H9R7 PP6R3_HUMAN Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA. 246 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding p.E246*(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CCTAGGCAAGAAATTATAGAG 0.383000 29 19 0 0 1 0 0 CYP2E1 1571 broad.mit.edu 37 10 135347332 135347332 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:135347332G>A uc001lnj.1 + 5 931 c.898G>A c.(898-900)Ggg>Agg p.G300R CYP2E1_uc001lnk.1_Missense_Mutation_p.G163R|CYP2E1_uc009ybl.1_Missense_Mutation_p.G101R|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_Missense_Mutation_p.G101R NM_000773 NP_000764 P05181 CP2E1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA. 300 Substrate binding (Probable). 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) GTTCTTTGCGGGGACAGAGAC 0.537000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 41 37 0 0 1 0 0 TCTN3 26123 broad.mit.edu 37 10 97442431 97442431 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:97442431G>A uc001klb.4 - 11 1673 c.1429C>T c.(1429-1431)Ctc>Ttc p.L477F TCTN3_uc010qoi.2_Missense_Mutation_p.L329F NM_015631 NP_056446 Q6NUS6 TECT3_HUMAN Homo sapiens tectonic family member 3 (TCTN3), transcript variant 1, mRNA. 477 apoptosis integral to membrane breast(3)|endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1) 15 Colorectal(252;0.0815) Epithelial(162;1.69e-07)|all cancers(201;5.63e-06) TGCCTGTTGAGGATCCTGGTC 0.438000 90 57 0 0 1 0 0 ZNF506 440515 broad.mit.edu 37 19 19906124 19906124 + Missense_Mutation SNP T A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:19906124T>A uc010eci.2 - 3 720 c.572A>T c.(571-573)tAt>tTt p.Y191F ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.Y159F NM_001099269 NP_001092739 Q5JVG8 ZN506_HUMAN Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA. 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1) 14 AATTTTCTTATATGTAGTACG 0.313000 12 8 0 0 1 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45483584 45483585 + Missense_Mutation DNP TC CA CA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr21:45483584_45483585TC>CA uc002zea.3 + 6 1125_1126 c.956_957TC>CA c.(955-957)ctc>cCA p.L319P TRAPPC10_uc010gpo.3_Missense_Mutation_p.L30P NM_003274 NP_003265 P48553 TPC10_HUMAN Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA. 319 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 ACCTTGCTGCTCTTCCTGCAGA 0.574000 55 32 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158627413 158627413 + Nonsense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:158627413G>A uc001fst.1 - 18 2858 c.2659C>T c.(2659-2661)Cga>Tga p.R887* NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 887 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.R887*(2) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTAGCAGCTCGAGCACGGAGA 0.473000 91 44 0 0 1 0 0 SAE1 10055 broad.mit.edu 37 19 47706966 47706966 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:47706966T>C uc002pgc.3 + 7 1025 c.917T>C c.(916-918)gTt>gCt p.V306A SAE1_uc002pgd.3_Silent_p.L258L|SAE1_uc010ekx.3_Intron|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_Missense_Mutation_p.V132A|SAE1_uc002pge.3_Missense_Mutation_p.V242A NM_005500 NP_005491 Q9UBE0 SAE1_HUMAN Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA. 306 protein sumoylation|protein ubiquitination nucleus ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity p.V305V(1) endometrium(3)|large_intestine(5)|lung(4)|ovary(1) 13 all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15) all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278) TGTGCGGTGGTTGGAGGGATT 0.458000 70 47 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10106090 10106090 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:10106090G>A uc003buw.3 + 21 2076 c.1998G>A c.(1996-1998)gtG>gtA p.V666V FANCD2_uc003bux.1_Silent_p.V666V|FANCD2_uc003buy.1_Silent_p.V666V|FANCD2_uc010hcw.1_Non-coding_Transcript NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA. 666 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) CCTTCGTAGTGGACTCCTGTG 0.453000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 200 23 0 0 1 0 0 WFIKKN1 117166 broad.mit.edu 37 16 681328 681328 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:681328G>A uc002cht.1 + 0 317 c.75G>A c.(73-75)ggG>ggA p.G25G AK128777_uc002chs.1_3'UTR NM_053284 NP_444514 Q96NZ8 WFKN1_HUMAN Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 (WFIKKN1), mRNA. 25 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1) 4 Hepatocellular(780;0.00335) TGCTGCCAGGGCTGGGGAGCC 0.726000 16 8 0 0 1 0 0 MST1P9 11223 broad.mit.edu 37 1 17085780 17085780 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:17085780G>A uc010ock.2 - 7 1041 c.1041C>T c.(1039-1041)gaC>gaT p.D347D CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 GCCGCACGTCGTCTGTACAAC 0.692000 25 4 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348598 140348598 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140348598G>A uc003lii.3 + 0 2852 c.2247G>A c.(2245-2247)agG>agA p.R749R PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.R749R NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 749 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGAGTAAGGGAAAGGTCCC 0.458000 42 7 0 0 1 0 0 C4B 721 broad.mit.edu 37 6 31996608 31996608 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:31996608G>A uc011dpd.2 + 25 3420 c.3369G>A c.(3367-3369)gtG>gtA p.V1123V C4B_uc011dpe.2_Silent_p.V1123V NM_001242823 NP_001229752 P0C0L5 CO4B_HUMAN Homo sapiens complement C4-B-like (LOC100293534), mRNA. 1123 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity TCTCTCCAGTGATACATAGGA 0.592000 62 47 0 0 1 0 0 PSG4 5672 broad.mit.edu 37 19 43698670 43698670 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:43698670G>A uc002ovy.3 - 4 1167 c.1065C>T c.(1063-1065)ttC>ttT p.F355F PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Silent_p.F262F|PSG4_uc002owb.3_Silent_p.F262F NM_002780 NP_002771 Q00888 PSG4_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA. 355 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) TAGACTCGGCGAAGCAGGACA 0.453000 110 68 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13841080 13841080 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:13841080C>T uc003jfd.2 - 33 5686 c.5644G>A c.(5644-5646)Gaa>Aaa p.E1882K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1882 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTCACTCGTTCCGTGGAACTC 0.398000 Kartagener syndrome 42 22 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113374138 113374138 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:113374138G>A uc003eam.3 - 6 6802 c.6391C>T c.(6391-6393)Cct>Tct p.P2131S KIAA2018_uc003eal.3_Missense_Mutation_p.P2075S NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN Homo sapiens KIAA2018 (KIAA2018), mRNA. 2131 regulation of transcription, DNA-dependent membrane|nucleus DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 ATCTGATTAGGAAAATAGGGG 0.428000 46 28 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21227313 21227313 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:21227313C>T uc002red.3 - 27 12043 c.11915G>A c.(11914-11916)gGa>gAa p.G3972E NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 3972 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GTGCGCTTTTCCTTCCCATTC 0.463000 396 187 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90605621 90605621 + Silent SNP A C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:90605621A>C uc011eaa.2 + 0 1434 c.1434A>C c.(1432-1434)acA>acC p.T478T NM_032602 NP_115991 Q969M2 CXA10_HUMAN Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA. 478 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GGCACAGAACATCAATGGTAA 0.493000 18 42 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171077319 171077319 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:171077319C>T uc001ghi.3 + 4 695 c.584C>T c.(583-585)tCg>tTg p.S195L FMO3_uc001ghh.3_Missense_Mutation_p.S195L|FMO3_uc010pmb.2_Missense_Mutation_p.S175L|FMO3_uc010pmc.2_Missense_Mutation_p.S132L NM_001002294 NP_008825 P31513 FMO3_HUMAN Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA. 195 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity p.S195L(2) endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTGGGGAATTCGGGCTGTGAT 0.498000 58 15 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33521270 33521270 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:33521270G>A uc002hjd.2 - 0 143 c.57C>T c.(55-57)ccC>ccT p.P19P NM_152462 NP_689675 Q8N808 AMAC1_HUMAN Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA. 19 integral to membrane GTGGAGCGGAGGGCGGCGATG 0.662000 33 21 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233518359 233518359 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:233518359G>A uc001hvt.4 + 9 3274 c.3013G>A c.(3013-3015)Gaa>Aaa p.E1005K KIAA1804_uc001hvu.4_Missense_Mutation_p.E451K NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 1005 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) TGCTGACGTGGAAGGTCAGAG 0.512000 20 27 0 0 1 0 0 ABT1 29777 broad.mit.edu 37 6 26597288 26597288 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:26597288G>A uc003nii.3 + 0 118 c.78G>A c.(76-78)gaG>gaA p.E26E NM_013375 NP_037507 Q9ULW3 ABT1_HUMAN Homo sapiens activator of basal transcription 1 (ABT1), mRNA. 26 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleolus DNA binding|RNA binding|nucleotide binding|protein binding|transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 11 TAGATGCGGAGGAGGAGCAGG 0.612000 15 12 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109438085 109438085 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:109438085G>A uc010agk.2 + 4 1232 c.610G>A c.(610-612)Gaa>Aaa p.E204K MYO16_uc001vqt.1_Missense_Mutation_p.E182K NM_001198950 NP_001185879 Q9Y6X6 MYO16_HUMAN Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA. 182 cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane ATP binding|actin filament binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CTATCTGGATGAAAATGGTAG 0.373000 27 11 0 0 1 0 0 ANKRD32 84250 broad.mit.edu 37 5 94030832 94030832 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:94030832G>A uc003kkr.4 + 20 3072 c.2992G>A c.(2992-2994)Gaa>Aaa p.E998K ANKRD32_uc003kks.3_Missense_Mutation_p.E362K NM_032290 NP_115666 Q9BQI6 ANR32_HUMAN Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA. 998 NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152) all cancers(79;3.88e-18) AAGTCATAAAGAAACCACCAG 0.343000 28 7 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2832061 2832061 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:2832061G>A uc022aqr.1 - 55 9042 c.8652C>T c.(8650-8652)tcC>tcT p.S2884S CSMD1_uc011kwj.2_Silent_p.S2214S|CSMD1_uc010lrg.3_Silent_p.S895S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2885 Sushi 21. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCCCTCTGCAGGAGTAGTGCA 0.587000 11 8 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13864545 13864545 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:13864545G>A uc003jfd.2 - 27 4599 c.4557C>T c.(4555-4557)atC>atT p.I1519I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1519 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTGCCTCCATGATATTTCTTA 0.428000 Kartagener syndrome 47 16 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46656235 46656235 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:46656235C>T uc003bhh.3 - 0 2985 c.2985G>A c.(2983-2985)agG>agA p.R995R NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 995 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CCAGAACCTCCCTAAGCACTG 0.522000 85 39 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51126160 51126160 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:51126160C>T uc001rwv.3 + 31 3978 c.3822C>T c.(3820-3822)atC>atT p.I1274I DIP2B_uc009zlt.3_Silent_p.I704I NM_173602 NP_775873 Q9P265 DIP2B_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA. 1274 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 CCAGAGGGATCAACCTCTCCT 0.542000 59 28 0 0 1 0 0 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139876129 139876130 + Missense_Mutation DNP CC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:139876129_139876130CC>TT uc003lfs.2 + 14 2424_2425 c.2270_2271CC>TT c.(2269-2271)tcc>tTT p.S757F ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.S776F|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.S757F|ANKHD1-EIF4EBP3_uc003lft.1_Intron|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.S237F|ANKHD1-EIF4EBP3_uc003lfv.1_Intron NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA. 757 cytoplasm|nucleus RNA binding breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2) 57 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGTCCAGTTCCCTCCAGGTAG 0.396000 25 24 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263725 34263725 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:34263725C>T uc002nus.4 + 4 1537 c.1032C>T c.(1030-1032)ttC>ttT p.F344F CHST8_uc002nut.4_Silent_p.F344F|CHST8_uc002nuu.3_Silent_p.F344F NM_001127895 NP_071912 Q9H2A9 CHST8_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA. 344 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity p.D343N(1) NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) ACTACGATTTCGTAGGCAAGT 0.622000 22 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9086851 9086851 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:9086851G>A uc002mkp.3 - 0 5168 c.4964C>T c.(4963-4965)tCc>tTc p.S1655F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1655 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 AGCTGGGGAGGATGTTCCTAT 0.507000 55 30 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39991690 39991690 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr20:39991690C>T uc002xjy.1 - 3 743 c.519G>A c.(517-519)agG>agA p.R173R NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA. 173 proteinaceous extracellular matrix biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2) 30 Myeloproliferative disorder(115;0.00425) CTGGGCCTTTCCTTCCTGGGA 0.577000 2 7 0 0 1 0 0 KAT6A 7994 broad.mit.edu 37 8 41791730 41791730 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:41791730G>A uc010lxb.3 - 17 4552 c.4008C>T c.(4006-4008)ccC>ccT p.P1336P KAT6A_uc010lxc.3_Silent_p.P1336P|KAT6A_uc003xon.4_Silent_p.P1336P NM_001099412 NP_006757 Q92794 MYST3_HUMAN Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA. 1336 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding CTTCCCTCGTGGGCTGTTCCT 0.483000 96 45 0 0 1 0 0 MCM2 4171 broad.mit.edu 37 3 127335869 127335869 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:127335869C>T uc003ejp.3 + 9 1738 c.1681C>T c.(1681-1683)Cag>Tag p.Q561* MCM2_uc011bkm.2_Nonsense_Mutation_p.Q431*|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Nonsense_Mutation_p.Q514* NM_004526 NP_004517 P49736 MCM2_HUMAN Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA. 561 MCM. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex|chromatin ATP binding|helicase activity|metal ion binding ovary(3)|skin(2)|stomach(1) 6 GGCGTATGTCCAGCGGCACCC 0.592000 77 62 0 0 1 0 0 DMP1 1758 broad.mit.edu 37 4 88583725 88583725 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:88583725G>A uc003hqv.3 + 5 899 c.795G>A c.(793-795)agG>agA p.R265R DMP1_uc003hqw.3_Silent_p.R249R NM_004407 NP_004398 Q13316 DMP1_HUMAN Homo sapiens dentin matrix acidic phosphoprotein 1 (DMP1), transcript variant 1, mRNA. 265 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1) 32 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) ATCCCAGTAGGAAAATTTTTA 0.433000 18 10 0 0 1 0 0 RORB 6096 broad.mit.edu 37 9 77282779 77282779 + Missense_Mutation SNP A C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:77282779A>C uc004aji.3 + 7 1155 c.1106A>C c.(1105-1107)gAg>gCg p.E369A RORB_uc004ajh.3_Missense_Mutation_p.E358A NM_006914 NP_008845 Q92753 RORB_HUMAN Homo sapiens RAR-related orphan receptor B (RORB), mRNA. 369 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 ACCGAGGAGGAGATCGCTTTG 0.373000 43 31 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606139 1606139 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:1606139C>T uc001ltu.1 - 0 375 c.341G>A c.(340-342)gGa>gAa p.G114E MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron NM_001005922 NP_001005922 Q6L8H4 KRA51_HUMAN Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA. 114 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) ACCCTTGGATCCCCCACAAGA 0.652000 23 30 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55533703 55533703 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:55533703C>T uc003xsd.1 + 1 325 c.177C>T c.(175-177)tcC>tcT p.S59S RP1_uc011ldy.1_Silent_p.S59S NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 59 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACCCTCGCTCCTTTAAGTCCT 0.557000 45 41 0 0 1 0 0 ACSM3 6296 broad.mit.edu 37 16 20797429 20797429 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:20797429G>A uc010vba.2 + 8 1335 c.1260G>A c.(1258-1260)atG>atA p.M420I ACSM3_uc002dhq.3_Missense_Mutation_p.M391I|ACSM3_uc002dhr.3_Missense_Mutation_p.M391I|ERI2_uc002dhs.3_Intron NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA. 391 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 21 TTAAGGGAATGAAAATTAAAC 0.353000 25 19 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27739102 27739102 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:27739102G>A uc001bof.2 - 6 1013 c.788C>T c.(787-789)tCc>tTc p.S263F WASF2_uc010ofl.2_Missense_Mutation_p.S263F NM_006990 NP_008921 Q9Y6W5 WASF2_HUMAN Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA. 263 G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization actin cytoskeleton|lamellipodium actin binding p.S263S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) GTTGTCCTCGGAGAAGGAAGG 0.478000 89 19 0 0 1 0 0 DEPDC1 55635 broad.mit.edu 37 1 68948079 68948079 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:68948079G>A uc001dem.4 - 7 1529 c.1412C>T c.(1411-1413)tCa>tTa p.S471L DEPDC1_uc001dej.4_5'Flank|DEPDC1_uc001dek.4_Intron|DEPDC1_uc001del.4_Intron NM_001114120 NP_001107592 Q5TB30 DEP1A_HUMAN Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA. 471 intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(397;7.21e-36) ATTTTCCTCTGAATGAAGATT 0.368000 12 35 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5058631 5058631 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:5058631G>A uc002cye.2 + 13 1962 c.1782G>A c.(1780-1782)cgG>cgA p.R594R NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 594 GOLD. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 TTGTCTGCCGGGAGGGGGAGA 0.642000 57 27 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31929110 31929110 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:31929110C>T uc003nyn.1 + 7 1125 c.736C>T c.(736-738)Ccc>Tcc p.P246S RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_Missense_Mutation_p.P88S|SKIV2L_uc011dov.1_Missense_Mutation_p.P53S NM_006929 NP_008860 Q15477 SKIV2_HUMAN Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA. 246 nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 TTCAGCCTCTCCCTGCAGTGC 0.582000 270 168 0 0 1 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841889 8841889 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:8841889C>T uc010xkg.2 + 0 499 c.499C>T c.(499-501)Ccc>Tcc p.P167S NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P167L(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCTGCATTTTCCCTACTGTGC 0.552000 74 50 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53644982 53644982 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:53644982G>A uc002qbc.2 - 4 1529 c.1102C>T c.(1102-1104)Cat>Tat p.H368Y ZNF347_uc002qbb.2_Missense_Mutation_p.H367Y|ZNF347_uc010eql.2_Missense_Mutation_p.H368Y NM_001172674 NP_001166146 Q96SE7 ZN347_HUMAN Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA. 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TCTCCAGTATGAATTCCTCGA 0.418000 44 29 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33945117 33945117 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:33945117C>T uc001bxj.4 + 1 395 c.228C>T c.(226-228)tgC>tgT p.C76C ZSCAN20_uc001bxk.2_Silent_p.C76C|ZSCAN20_uc009vui.3_Silent_p.C76C NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 76 SCAN box. viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGGCTCTCTGCTGTCGTTGGC 0.612000 43 18 0 0 1 0 0 KIAA0930 23313 broad.mit.edu 37 22 45599724 45599724 + Splice_Site SNP A C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:45599724A>C uc003bfv.1 - 5 870 c.684_splice c.e5+1 p.R228_splice KIAA0930_uc003bfx.1_Splice_Site_p.R219_splice|KIAA0930_uc010gzw.1_Splice_Site_p.R71_splice|KIAA0930_uc003bfw.1_Splice_Site_p.R224_splice|KIAA0930_uc010gzx.2_Splice_Site_p.R201_splice|MIR1249_uc021wrh.1_5'Flank NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA. 219 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 CCCCGCACTCACCCGGTTGTC 0.642000 14 13 0 0 1 0 0 TOR1AIP2 163590 broad.mit.edu 37 1 179815508 179815508 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:179815508G>A uc001gnl.3 - 6 1925 c.1111C>T c.(1111-1113)Cct>Tct p.P371S TOR1AIP2_uc001gnk.3_Missense_Mutation_p.P371S NM_001199260 NP_001186189 Q8NFQ8 TOIP2_HUMAN Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA. 371 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2) 18 GAGCCGGCAGGGAAGGATTCG 0.507000 29 21 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77398272 77398272 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:77398272G>A uc002ffc.4 - 4 1204 c.785C>T c.(784-786)cCc>cTc p.P262L ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 262 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GGGAGGCTTGGGAGCATCTAC 0.448000 25 15 0 0 1 0 0 ZNF425 155054 broad.mit.edu 37 7 148801946 148801946 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:148801946G>A uc003wfj.3 - 3 1150 c.1017C>T c.(1015-1017)ttC>ttT p.F339F NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN Homo sapiens zinc finger protein 425 (ZNF425), mRNA. 339 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) TCTTCAGGCGGAAGCACCGGT 0.662000 81 17 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25029327 25029328 + Missense_Mutation DNP GG AA AA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:25029327_25029328GG>AA uc001upl.3 - 21 2691_2692 c.2585_2586CC>TT c.(2584-2586)ccc>cTT p.P862L PARP4_uc010tdc.2_Missense_Mutation_p.P862L NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA. 862 DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) CATCGAGATCGGGTTGAAAGAC 0.475000 45 29 0 0 1 0 0 SLC22A1 6580 broad.mit.edu 37 6 160579578 160579578 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:160579578C>T uc003qtc.3 + 10 1734 c.1629C>T c.(1627-1629)taC>taT p.Y543Y SLC22A1_uc003qtd.3_Missense_Mutation_p.P506S NM_003057 NP_003048 O15245 S22A1_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA. 543 basolateral plasma membrane|integral to plasma membrane|membrane fraction organic cation transmembrane transporter activity|protein binding SLC22A1/CUTA(2) breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1) 21 Breast(66;0.000776)|Ovarian(120;0.00556) OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) ACACGATTTACCTTAAGGTCC 0.393000 17 21 0 0 1 0 0 ALS2CR8 79800 broad.mit.edu 37 2 203839124 203839124 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:203839124C>T uc002uzo.2 + 11 1679 c.1399C>T c.(1399-1401)Cca>Tca p.P467S ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Missense_Mutation_p.P391S|ALS2CR8_uc010zib.1_Missense_Mutation_p.P391S|ALS2CR8_uc010zic.1_Missense_Mutation_p.P379S|ALS2CR8_uc002uzp.2_Missense_Mutation_p.P467S NM_001104586 NP_079020 Q8N187 AL2S8_HUMAN Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA. 467 breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1) 20 ATCTTTTTTTCCAACTGTAAA 0.328000 177 104 0 0 1 0 0 FMO5 2330 broad.mit.edu 37 1 146684893 146684893 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:146684893G>A uc001epi.2 - 3 858 c.469C>T c.(469-471)Cct>Tct p.P157S FMO5_uc001eph.4_Missense_Mutation_p.P157S|FMO5_uc001epj.2_Missense_Mutation_p.P157S|FMO5_uc001epk.4_Missense_Mutation_p.P157S NM_001461 NP_001452 P49326 FMO5_HUMAN Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA. 157 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) CTTTCCAGAGGTAGATGAGCA 0.512000 91 48 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170493779 170493779 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:170493779C>T uc002uez.3 + 13 2231 c.2011C>T c.(2011-2013)Cat>Tat p.H671Y PPIG_uc010fpx.3_Missense_Mutation_p.H656Y|PPIG_uc010fpy.3_Missense_Mutation_p.H664Y|PPIG_uc002ufb.3_Missense_Mutation_p.H671Y|PPIG_uc002ufd.3_Missense_Mutation_p.H668Y NM_004792 NP_004783 Q13427 PPIG_HUMAN Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA. 671 RNA splicing|protein folding nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity p.D670H(1) NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) AAGTCGTGATCATAATAGCTC 0.353000 59 29 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769279 247769280 + Missense_Mutation DNP AC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:247769279_247769280AC>TT uc010pyz.2 + 0 392_393 c.392_393AC>TT c.(391-393)cac>cTT p.H131L NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA. 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AAACCCCTCCACTATGTAGTCA 0.505000 161 39 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9073213 9073213 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:9073213G>A uc002mkp.3 - 2 14437 c.14233C>T c.(14233-14235)Ccc>Tcc p.P4745S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4747 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 TGAGAAGAGGGAGAGCTGGCT 0.488000 70 44 0 0 1 0 0 DNAJC17 55192 broad.mit.edu 37 15 41065983 41065983 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:41065983G>A uc001zms.2 - 9 766 c.734C>T c.(733-735)tCc>tTc p.S245F DNAJC17_uc010bbz.2_Non-coding_Transcript NM_018163 NP_060633 Q9NVM6 DJC17_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 17 (DNAJC17), mRNA. 245 RRM. protein folding RNA binding|heat shock protein binding|nucleotide binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|skin(1) 6 all_cancers(109;4.16e-14)|all_epithelial(112;9.68e-12)|Lung NSC(122;3.19e-09)|all_lung(180;6.45e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) CTCCAACCAGGAAATCTTCAG 0.597000 19 13 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40373974 40373974 + Missense_Mutation SNP G C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:40373974G>C uc002omp.4 - 25 12112 c.12104C>G c.(12103-12105)tCc>tGc p.S4035C NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 4035 Cys-rich. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GATGCCTCCGGAGGGCTGGCA 0.637000 27 4 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160605065 160605065 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:160605065C>T uc002uax.3 + 4 1386 c.1264C>T c.(1264-1266)Cat>Tat p.H422Y MARCH7_uc010foq.3_Missense_Mutation_p.H422Y|MARCH7_uc010zcn.2_Missense_Mutation_p.H366Y|MARCH7_uc010for.3_Missense_Mutation_p.H384Y|MARCH7_uc002uay.3_Non-coding_Transcript NM_022826 NP_073737 Q9H992 MARH7_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA. 422 ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 ATCTAGATCTCATATTTTTAG 0.428000 27 18 0 0 1 0 0 MOXD1 26002 broad.mit.edu 37 6 132641792 132641792 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:132641792C>T uc003qdf.3 - 8 1440 c.1341G>A c.(1339-1341)acG>acA p.T447T MOXD1_uc003qde.3_Silent_p.T379T NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA. 447 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity p.T447T(4)|p.T379T(2) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) CTCTATCTTTCGTGTTGTAGC 0.299000 9 9 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 173182 173182 + Splice_Site SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:173182G>A uc003jak.2 + 15 3203 c.3153_splice c.e15+1 p.K1051_splice NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 1051 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGTCCTTCAAGGTAGCACCCG 0.597000 29 14 0 0 1 0 0 BRD7 29117 broad.mit.edu 37 16 50368640 50368640 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:50368640G>A uc021thx.1 - 6 1029 c.869C>T c.(868-870)cCc>cTc p.P290L BRD7_uc002ege.2_Missense_Mutation_p.P290L NM_013263 NP_037395 Q9NPI1 BRD7_HUMAN Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA. 290 Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) TTCTTTGCTGGGACTCTTGAA 0.473000 109 56 0 0 1 0 0 RALB 5899 broad.mit.edu 37 2 121047315 121047315 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:121047315C>T uc002tmk.3 + 3 673 c.483C>T c.(481-483)acC>acT p.T161T RALB_uc010yys.2_Silent_p.T183T|RALB_uc002tml.3_Silent_p.T182T|RALB_uc010yyt.2_Non-coding_Transcript NM_002881 NP_002872 P11234 RALB_HUMAN Homo sapiens v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) (RALB), mRNA. 161 Ras protein signal transduction|apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(154;0.122) CAGCGAAGACCCGGGCCAACG 0.557000 13 22 0 0 1 0 0 LPAR1 1902 broad.mit.edu 37 9 113704254 113704254 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:113704254G>A uc011lwo.2 - 1 245 c.243C>T c.(241-243)ttC>ttT p.F81F LPAR1_uc004bfa.3_Silent_p.F80F|LPAR1_uc011lwm.2_Silent_p.F81F|LPAR1_uc004bfc.3_Silent_p.F80F|LPAR1_uc011lwn.2_Silent_p.F62F|LPAR1_uc004bfb.3_Silent_p.F80F|LPAR1_uc010mub.3_Silent_p.F80F NM_057159 NP_476500 Q92633 LPAR1_HUMAN Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA. 80 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 TAGGAAAATGGAAGCGGCGGT 0.458000 62 37 0 0 1 0 0 C12orf51 283450 broad.mit.edu 37 12 112608218 112608218 + Nonsense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:112608218G>A uc021reb.1 - 68 11965 c.11569C>T c.(11569-11571)Cga>Tga p.R3857* NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 TTCAGCACTCGATTCATCACG 0.597000 36 21 0 0 1 0 0 PGAP2 27315 broad.mit.edu 37 11 3832548 3832548 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:3832548C>T uc010qxw.2 + 2 255 c.230C>T c.(229-231)aCc>aTc p.T77I PGAP2_uc001lyl.3_Missense_Mutation_p.P10S|PGAP2_uc010qxy.2_Missense_Mutation_p.T77I|PGAP2_uc001lyn.4_Intron|PGAP2_uc010qya.2_Non-coding_Transcript|PGAP2_uc010qyb.2_Intron|PGAP2_uc001lys.3_Missense_Mutation_p.T20I|PGAP2_uc001lyt.3_Intron|PGAP2_uc021qcm.1_Missense_Mutation_p.T20I NM_014489 NP_055304 Q9UHJ9 PGAP2_HUMAN Homo sapiens post-GPI attachment to proteins 2 (PGAP2), transcript variant 1, mRNA. 20 GPI anchor biosynthetic process Golgi membrane|endoplasmic reticulum membrane|integral to membrane protein transporter activity NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 CTCCGCTTCACCATGGTGGCC 0.607000 40 16 0 0 1 0 0 CCDC129 223075 broad.mit.edu 37 7 31622797 31622797 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:31622797G>A uc011kae.2 + 8 1310 c.1298G>A c.(1297-1299)gGa>gAa p.G433E CCDC129_uc011kad.1_Missense_Mutation_p.G417E|CCDC129_uc003tcj.1_Missense_Mutation_p.G407E|CCDC129_uc003tci.1_Missense_Mutation_p.G258E|CCDC129_uc003tck.1_Missense_Mutation_p.G315E NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA. 407 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 ATGACTTCAGGAACTGTAGGT 0.318000 161 36 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81641879 81641879 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:81641879C>T uc021ssk.1 - 10 1113 c.1113G>A c.(1111-1113)atG>atA p.M371I TMC3_uc021ssj.1_Missense_Mutation_p.M371I|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.M371I NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN Homo sapiens transmembrane channel-like 3 (TMC3), mRNA. 371 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 ATGGTGCTATCATGGTGACGA 0.572000 14 7 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330436 125330436 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:125330436G>A uc004bmp.1 - 0 321 c.321C>T c.(319-321)gcC>gcT p.A107A NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TGTTGCCCAAGGCATAGAGAA 0.507000 39 19 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76183815 76183815 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:76183815C>T uc001oxl.3 + 7 1182 c.1039C>T c.(1039-1041)Cct>Tct p.P347S C11orf30_uc009yuj.1_Missense_Mutation_p.P362S|C11orf30_uc010rsa.1_Missense_Mutation_p.P297S|C11orf30_uc001oxm.3_Missense_Mutation_p.P348S|C11orf30_uc010rsb.2_Missense_Mutation_p.P362S|C11orf30_uc010rsc.2_Missense_Mutation_p.P362S|C11orf30_uc001oxn.3_Missense_Mutation_p.P348S|C11orf30_uc010rsd.2_Missense_Mutation_p.P361S NM_020193 NP_064578 Q7Z589 EMSY_HUMAN Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA. 347 Interaction with BRCA2.|Ser-rich. DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 ATCACCTATTCCTAATACAGT 0.453000 52 31 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64494361 64494361 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:64494361C>T uc001xgl.3 + 42 6794 c.6564C>T c.(6562-6564)ttC>ttT p.F2188F SYNE2_uc001xgm.3_Silent_p.F2188F|SYNE2_uc021ruh.1_Silent_p.F2188F NM_182914 NP_878918 Q8WXH0 SYNE2_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA. 2188 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATAAGAAATTCCTCAAGAAAG 0.398000 15 27 0 0 1 0 0 GBA2 57704 broad.mit.edu 37 9 35741007 35741007 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:35741007C>T uc011lpd.2 - 5 1358 c.859G>A c.(859-861)Gaa>Aaa p.E287K GBA2_uc003zxw.3_Missense_Mutation_p.E281K|GBA2_uc003zxx.1_5'Flank|GBA2_uc011lpb.1_Missense_Mutation_p.E281K|GBA2_uc011lpc.1_Missense_Mutation_p.E281K|GBA2_uc003zxy.1_5'UTR NM_020944 NP_065995 Q9HCG7 GBA2_HUMAN Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA. 281 O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum beta-glucosidase activity|glucosylceramidase activity NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3) 21 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCTAGAGCTTCGTCCCCTTCA 0.567000 23 17 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000222 56000222 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:56000222C>T uc010rjc.2 - 0 440 c.440G>A c.(439-441)gGa>gAa p.G147E NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA. 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TTCTGTGGTTCCAAAACTACA 0.408000 78 32 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169327157 169327157 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:169327157C>T uc021xuh.1 - 22 3267 c.3157G>A c.(3157-3159)Gaa>Aaa p.E1053K DDX60L_uc003irq.4_Missense_Mutation_p.E1053K|DDX60L_uc003irr.1_Missense_Mutation_p.E1053K|DDX60L_uc003irs.1_Missense_Mutation_p.E748K NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA. 1053 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) AAGTTTTCTTCATATTTTCTA 0.303000 15 7 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47947754 47947754 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:47947754G>A uc003tny.2 - 8 1356 c.1322C>T c.(1321-1323)gCc>gTc p.A441V NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 441 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CGCAGACACGGCCTCATGGCC 0.453000 28 30 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27736451 27736451 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:27736451G>A uc001bof.2 - 7 1299 c.1074C>T c.(1072-1074)caC>caT p.H358H WASF2_uc010ofl.2_Intron NM_006990 NP_008921 Q9Y6W5 WASF2_HUMAN Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA. 358 G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) CAAAATCAGGGTGAGGTGGGA 0.622000 86 32 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171086346 171086346 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:171086346C>T uc001ghi.3 + 8 1474 c.1363C>T c.(1363-1365)Ccc>Tcc p.P455S FMO3_uc001ghh.3_Missense_Mutation_p.P455S|FMO3_uc010pmb.2_Missense_Mutation_p.P435S|FMO3_uc010pmc.2_Missense_Mutation_p.P392S NM_001002294 NP_008825 P31513 FMO3_HUMAN Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA. 455 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCTCACAGATCCCAAATTGGC 0.493000 46 32 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150911323 150911323 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:150911323C>T uc003eyp.3 + 13 2144 c.2015C>T c.(2014-2016)tCg>tTg p.S672L MED12L_uc011bnz.2_Missense_Mutation_p.S532L|MED12L_uc003eyn.3_Missense_Mutation_p.S707L|MED12L_uc003eyo.3_Missense_Mutation_p.S672L NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 672 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCCAACACTTCGTTGGGCAGA 0.388000 32 10 0 0 1 0 0 PTPN12 5782 broad.mit.edu 37 7 77212886 77212886 + Silent SNP A C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:77212886A>C uc003ugh.2 + 3 391 c.300A>C c.(298-300)ccA>ccC p.P100P PTPN12_uc011kgp.1_5'UTR|PTPN12_uc011kgq.1_Intron|PTPN12_uc010ldq.1_Non-coding_Transcript|PTPN12_uc010ldr.1_Intron NM_002835 NP_002826 Q05209 PTN12_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA. 100 Tyrosine-protein phosphatase. soluble fraction SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 TCTATGGGCCAAAAGCATATG 0.299000 17 25 0 0 1 0 0 PLIN4 729359 broad.mit.edu 37 19 4513464 4513464 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:4513464C>T uc002mar.1 - 2 466 c.466G>A c.(466-468)Gac>Aac p.D156N PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN Homo sapiens perilipin 4 (PLIN4), mRNA. 156 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 GACACCGTGTCCTTGGTGCCG 0.647000 27 22 0 0 1 0 0 GOLGA8E 390535 broad.mit.edu 37 15 23443566 23443566 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:23443566C>T uc001yvu.3 + 12 1667 c.652C>T c.(652-654)Cct>Tct p.P218S JA429730_uc021sfs.1_5'Flank Homo sapiens golgin A8 family, member E (GOLGA8E), non-coding RNA. endometrium(1)|kidney(1)|lung(3)|skin(1) 6 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;5.21e-07)|Epithelial(43;5.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.000614) CATGGCTCTCCCTGGGGAAGG 0.597000 5 11 0 0 1 0 0 TMEM72 643236 broad.mit.edu 37 10 45430207 45430207 + Missense_Mutation SNP C G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:45430207C>G uc001jbn.2 + 4 650 c.453C>G c.(451-453)gaC>gaG p.D151E TMEM72-AS1_uc001jbk.1_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.D33E NM_001123376 NP_001116848 A0PK05 TMM72_HUMAN Homo sapiens transmembrane protein 72 (TMEM72), mRNA. 151 integral to membrane breast(2)|kidney(1)|large_intestine(2)|lung(10) 15 AGTACACAGACCCCTCTAGCA 0.612000 80 54 0 0 1 0 0 AHCY 191 broad.mit.edu 37 20 32879332 32879333 + Nonsense_Mutation DNP GG AA AA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr20:32879332_32879333GG>AA uc002xai.3 - 4 589_590 c.450_451CC>TT c.(448-453)atccga>atTTga p.R151* AHCY_uc002xaj.3_Nonsense_Mutation_p.R123* NM_000687 NP_001155238 P23526 SAHH_HUMAN Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA. 151 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GAGATGCCTCGGATGCCTAAAC 0.525000 35 30 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10097023 10097023 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:10097023C>T uc002mmq.1 - 29 2406 c.2320G>A c.(2320-2322)Gag>Aag p.E774K NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 774 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGCCCCTCCTCGCCAGCCTGC 0.617000 12 7 0 0 1 0 0 ZNF239 8187 broad.mit.edu 37 10 44052973 44052973 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:44052973C>T uc001jaw.4 - 1 1208 c.555G>A c.(553-555)ggG>ggA p.G185G ZNF239_uc001jax.4_Silent_p.G185G|ZNF239_uc009xmj.3_Silent_p.G185G|ZNF239_uc009xmk.3_Silent_p.G185G|ZNF239_uc021pph.1_Silent_p.G185G NM_005674 NP_005665 Q16600 ZN239_HUMAN Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA. 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TAAGTATTTTCCCACAGTTAT 0.423000 50 37 0 0 1 0 0 RNF220 55182 broad.mit.edu 37 1 44878033 44878033 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:44878033C>T uc001clv.1 + 1 624 c.264C>T c.(262-264)ttC>ttT p.F88F RNF220_uc001clw.1_Silent_p.F88F NM_018150 NP_060620 Q5VTB9 RN220_HUMAN Homo sapiens ring finger protein 220 (RNF220), mRNA. 88 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 ATCGTGATTTCCCCCCTTCTC 0.512000 194 203 0 0 1 0 0 RGL4 266747 broad.mit.edu 37 22 24034700 24034700 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:24034700G>A uc002zxo.3 + 1 1615 c.358G>A c.(358-360)Gag>Aag p.E120K GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Missense_Mutation_p.E120K|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.3_5'UTR Q8IZJ4 RGDSR_HUMAN Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA. 120 Pro-rich. small GTPase mediated signal transduction cytoplasmic membrane-bounded vesicle guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3) 15 GGAGCCCAACGAGGCCAAGCC 0.567000 27 16 0 0 1 0 0 BTN1A1 696 broad.mit.edu 37 6 26506938 26506938 + Nonsense_Mutation SNP G A A rs144262313 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:26506938G>A uc003nif.4 + 3 794 c.737G>A c.(736-738)tGg>tAg p.W246* NM_001732 NP_001723 Q13410 BT1A1_HUMAN Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA. 246 extracellular region|integral to plasma membrane receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1) 26 CTGACTCCCTGGATAGTGGCT 0.463000 133 71 0 0 1 0 0 ATF2 1386 broad.mit.edu 37 2 175962288 175962288 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:175962288G>A uc002ujl.3 - 10 1124 c.862C>T c.(862-864)Cca>Tca p.P288S ATF2_uc002ujv.3_Missense_Mutation_p.P35S|ATF2_uc002ujm.3_Missense_Mutation_p.P230S|ATF2_uc002uju.3_Non-coding_Transcript|ATF2_uc002ujn.3_Non-coding_Transcript|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_Missense_Mutation_p.P288S|ATF2_uc010fqu.3_Missense_Mutation_p.P270S|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_Missense_Mutation_p.P230S|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_Missense_Mutation_p.P239S|ATF2_uc002ujw.1_Missense_Mutation_p.P230S|ATF2_uc002ujx.1_Non-coding_Transcript NM_001880 NP_001871 P15336 ATF2_HUMAN Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA. 288 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.125) TTGGTAACTGGAGGATGTTGC 0.413000 43 22 0 0 1 0 0 CCDC140 151278 broad.mit.edu 37 2 223168937 223168937 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:223168937C>T uc021vxg.1 + 0 316 c.316C>T c.(316-318)Cgg>Tgg p.R106W CCDC140_uc002vnb.1_Missense_Mutation_p.R106W NM_153038 NP_694583 Q96MF4 CC140_HUMAN Homo sapiens coiled-coil domain containing 140 (CCDC140), mRNA. 106 endometrium(4)|large_intestine(1)|prostate(1) 6 Renal(207;0.0376) Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CAACTCCACCCGGGCGTCTCC 0.627000 20 15 0 0 1 0 0 CTR9 9646 broad.mit.edu 37 11 10785008 10785008 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:10785008C>T uc001mja.3 + 7 1029 c.880C>T c.(880-882)Cat>Tat p.H294Y NM_014633 NP_055448 Q6PD62 CTR9_HUMAN Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA. 294 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TCTGGCCCTCCATGCATTCCA 0.383000 22 10 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947421 237947421 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:237947421G>A uc001hyl.1 + 89 12529 c.12409G>A c.(12409-12411)Gaa>Aaa p.E4137K RYR2_uc010pya.2_Missense_Mutation_p.E552K NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4137 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.M4137I(1)|p.E4135K(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGGCCGCATCGAAATCATGGG 0.512000 15 81 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48668888 48668888 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:48668888C>T uc002irk.1 + 10 2918 c.2546C>T c.(2545-2547)cCg>cTg p.P849L CACNA1G_uc002iri.1_Missense_Mutation_p.P849L|CACNA1G_uc002irj.1_Missense_Mutation_p.P849L|CACNA1G_uc002irl.1_Missense_Mutation_p.P849L|CACNA1G_uc002irm.1_Missense_Mutation_p.P849L|CACNA1G_uc002irn.1_Missense_Mutation_p.P849L|CACNA1G_uc002iro.1_Missense_Mutation_p.P849L|CACNA1G_uc002irp.1_Missense_Mutation_p.P849L|CACNA1G_uc002irq.1_Missense_Mutation_p.P849L|CACNA1G_uc002irr.1_Missense_Mutation_p.P849L|CACNA1G_uc002irs.1_Missense_Mutation_p.P849L|CACNA1G_uc002irt.1_Missense_Mutation_p.P849L|CACNA1G_uc002iru.1_Missense_Mutation_p.P849L|CACNA1G_uc002irv.1_Missense_Mutation_p.P849L|CACNA1G_uc002irw.1_Missense_Mutation_p.P849L|CACNA1G_uc002irx.1_Missense_Mutation_p.P762L|CACNA1G_uc002iry.1_Missense_Mutation_p.P762L|CACNA1G_uc002isg.1_Missense_Mutation_p.P762L|CACNA1G_uc002ish.1_Missense_Mutation_p.P762L|CACNA1G_uc002isi.1_Missense_Mutation_p.P762L|CACNA1G_uc002irz.1_Missense_Mutation_p.P762L|CACNA1G_uc002isa.1_Missense_Mutation_p.P762L|CACNA1G_uc002isd.1_Missense_Mutation_p.P762L|CACNA1G_uc002isb.1_Missense_Mutation_p.P762L|CACNA1G_uc002isc.1_Missense_Mutation_p.P762L|CACNA1G_uc002ise.1_Missense_Mutation_p.P762L|CACNA1G_uc002isf.1_Missense_Mutation_p.P762L NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 849 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CGCTTCCTGCCGGCGCTGCAG 0.627000 19 7 0 0 1 0 0 SPARCL1 8404 broad.mit.edu 37 4 88414891 88414891 + Missense_Mutation SNP C T T rs143716987 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:88414891C>T uc010ikm.3 - 4 1633 c.1061G>A c.(1060-1062)aGg>aAg p.R354K SPARCL1_uc011cdc.2_Missense_Mutation_p.R229K|SPARCL1_uc003hqs.4_Missense_Mutation_p.R354K|SPARCL1_uc011cdd.2_Missense_Mutation_p.R229K NM_001128310 NP_004675 Q14515 SPRL1_HUMAN Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA. 354 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) TGCACTGTGCCTGGGGCCATC 0.507000 35 17 0 0 1 0 0 KIAA1161 57462 broad.mit.edu 37 9 34371962 34371962 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:34371962G>A uc003zue.4 - 2 1144 c.977C>T c.(976-978)gCc>gTc p.A326V NM_020702 NP_065753 Q6NSJ0 K1161_HUMAN Homo sapiens KIAA1161 (KIAA1161), mRNA. 327 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CTGGTCCACGGCGCGCCCGTA 0.587000 46 17 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130292970 130292971 + Missense_Mutation DNP CC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:130292970_130292971CC>TT uc010htl.3 + 6 3179_3180 c.3148_3149CC>TT c.(3148-3150)ccg>TTg p.P1050L NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 1050 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen p.P1050Q(2)|p.H1049Q(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TACCTATCACCCGGAGTTTCCA 0.436000 27 12 0 0 1 0 0 PCDP1 200373 broad.mit.edu 37 2 120362534 120362534 + Missense_Mutation SNP G A A rs141477875 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:120362534G>A uc002tmb.3 + 10 1249 c.137G>A c.(136-138)gGa>gAa p.G46E PCDP1_uc010yyq.2_Missense_Mutation_p.G176E NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA. 332 cilium calmodulin binding Colorectal(110;0.196) CAAGAACCAGGAAAATTGAAG 0.383000 70 29 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31447636 31447636 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:31447636G>A uc001bsi.1 - 9 1481 c.1368C>T c.(1366-1368)gtC>gtT p.V456V PUM1_uc001bsf.1_Silent_p.V122V|PUM1_uc001bsh.1_Silent_p.V456V|PUM1_uc001bsj.1_Silent_p.V457V|PUM1_uc010oga.1_Silent_p.V360V|PUM1_uc001bsk.1_Silent_p.V492V|PUM1_uc010ogb.1_Silent_p.V397V NM_014676 NP_055491 Q14671 PUM1_HUMAN Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA. 456 Ala-rich. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) ACTGGTGAGGGACCACAGCTG 0.473000 26 10 0 0 1 0 0 THOP1 7064 broad.mit.edu 37 19 2808366 2808366 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:2808366C>T uc002lwj.3 + 8 1534 c.1379C>T c.(1378-1380)cCc>cTc p.P460L THOP1_uc010xgz.2_Missense_Mutation_p.P339L|THOP1_uc002lwk.3_5'Flank NM_003249 NP_003240 P52888 THOP1_HUMAN Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA. 460 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1) 14 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGACGCGCCCTCGCTGCTG 0.682000 13 4 0 0 1 0 0 PCSK9 255738 broad.mit.edu 37 1 55509558 55509558 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:55509558G>A uc001cyf.2 + 1 612 c.250G>A c.(250-252)Gag>Aag p.E84K PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron NM_174936 NP_777596 Q8NBP7 PCSK9_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA. 84 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 GGTGCTGAAGGAGGAGACCCA 0.622000 336 132 0 0 1 0 0 H19 283120 broad.mit.edu 37 11 2016763 2016763 + RNA SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:2016763C>T uc021qbx.1 - 0 c.41G>A H19_uc021qby.1_Non-coding_Transcript|H19_uc001lva.4_Non-coding_Transcript|H19_uc021qbz.1_Non-coding_Transcript Homo sapiens PRO2605 mRNA, complete cds. GGCTTTGAATCTCTCAGAAAA 0.488000 Beckwith-Wiedemann syndrome 17 4 0 0 1 0 0 F11R 50848 broad.mit.edu 37 1 160969759 160969759 + Missense_Mutation SNP G A A rs144466757 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:160969759G>A uc009wtt.3 - 5 871 c.601C>T c.(601-603)Ccc>Tcc p.P201S F11R_uc010pjv.2_Missense_Mutation_p.P152S|F11R_uc010pjw.2_Missense_Mutation_p.P205S|F11R_uc001fxf.4_Missense_Mutation_p.P201S NM_016946 NP_058642 Q9Y624 JAM1_HUMAN Homo sapiens F11 receptor (F11R), mRNA. 201 Ig-like V-type 2. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction p.D200H(1) breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) GCTGACAGGGGATCAAAGACC 0.473000 8 43 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107062149 107062149 + RNA SNP C G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:107062149C>G uc021ser.1 - 150 c.6837G>C Parts of antibodies, mostly variable regions. AATACACGGCCGTGTCCGCGG 0.577000 35 50 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89925345 89925345 + Missense_Mutation SNP T G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:89925345T>G uc003kju.3 + 8 1924 c.1828T>G c.(1828-1830)Ttt>Gtt p.F610V GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 610 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) tggagctcactttctagtaca 0.318000 38 20 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119748183 119748183 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:119748183G>A uc002tln.1 + 12 1214 c.1082G>A c.(1081-1083)gGa>gAa p.G361E MARCO_uc010yyf.1_Missense_Mutation_p.G283E NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 361 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 GGACAGCAAGGAAGAAAAGGA 0.468000 38 25 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68650907 68650907 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:68650907C>T uc010bib.3 - 5 576 c.489G>A c.(487-489)atG>atA p.M163I ITGA11_uc002ari.3_Missense_Mutation_p.M163I NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN Homo sapiens integrin, alpha 11 (ITGA11), mRNA. 163 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity p.M163I(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) TGACGATGTCCATGTAGGTCT 0.502000 17 11 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140174819 140174819 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140174819C>T uc003lhd.2 + 0 376 c.270C>T c.(268-270)atC>atT p.I90I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.I90I|PCDHAC2_uc011czy.2_Silent_p.I90I NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 105 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGACCGGGAGG 0.587000 113 19 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62300532 62300532 + Missense_Mutation SNP C A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:62300532C>A uc001ntl.3 - 4 1657 c.1357G>T c.(1357-1359)Gtg>Ttg p.V453L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA. 453 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) GGCAGTGTCACATCAATCCCA 0.517000 52 37 1.69901e-12 1.72075e-12 1 1 0 WASF3 10810 broad.mit.edu 37 13 27241696 27241696 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:27241696C>T uc001uqv.3 + 4 536 c.311C>T c.(310-312)tCc>tTc p.S104F WASF3_uc001uqw.3_Missense_Mutation_p.S104F NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN Homo sapiens WAS protein family, member 3 (WASF3), mRNA. 104 actin filament polymerization cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2) 22 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) TTCAAAAGTTCCACAGTCCAA 0.373000 38 20 0 0 1 0 0 CFLAR 8837 broad.mit.edu 37 2 202025477 202025477 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:202025477C>T uc002uxb.4 + 8 1581 c.1116C>T c.(1114-1116)ctC>ctT p.L372L CFLAR_uc010zhk.2_Silent_p.L276L|CFLAR_uc010zhl.2_Silent_p.L276L|CFLAR_uc002uxc.4_Silent_p.L337L|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Silent_p.L372L|CFLAR_uc010fsx.3_Intron|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Silent_p.L372L|CFLAR_uc010zhm.2_Silent_p.L276L|CFLAR_uc010fsz.3_Silent_p.L127L|CFLAR_uc002uxg.3_Silent_p.L127L|CFLAR-AS1_uc002uxh.1_5'Flank NM_003879 NP_001189446 O15519 CFLAR_HUMAN Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA. 372 Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition. L -> F (in Ref. 6; AAB99793). anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1) 13 ACAGCAGCCTCTTGGAGGTGG 0.512000 30 21 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42424886 42424886 + Silent SNP G C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:42424886G>C uc003gwr.2 - 34 3475 c.3243C>G c.(3241-3243)gtC>gtG p.V1081V ATP8A1_uc003gwq.2_Silent_p.V307V|ATP8A1_uc003gws.2_Silent_p.V1066V NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 1081 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|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) GAACTTCATCGACCAATGTTT 0.358000 85 42 0 0 1 0 0 UNK 85451 broad.mit.edu 37 17 73805957 73805958 + Missense_Mutation DNP CC GT GT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:73805957_73805958CC>GT uc002jpm.3 + 2 449_450 c.449_450CC>GT c.(448-450)tcc>tGT p.S150C UNK_uc021udd.1_Missense_Mutation_p.S74C NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA. 74 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) CGCCGCCGGTCCATCCGCCGTC 0.624000 35 10 0 0 1 0 0 GPR84 53831 broad.mit.edu 37 12 54756761 54756761 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:54756761G>A uc021qyp.1 - 0 875 c.875C>T c.(874-876)cCa>cTa p.P292L GPR84_uc001sfu.3_Missense_Mutation_p.P292L NM_020370 NP_065103 Q9NQS5 GPR84_HUMAN Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA. 292 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 AGATGCTTCTGGAGGGCTTTT 0.522000 92 58 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9066340 9066340 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:9066340G>A uc002mkp.3 - 2 21310 c.21106C>T c.(21106-21108)Cct>Tct p.P7036S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7038 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 GACCCAGAAGGACCTGTTTGA 0.478000 112 74 0 0 1 0 0 DLL3 10683 broad.mit.edu 37 19 39994874 39994874 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:39994874C>T uc002olx.2 + 4 874 c.816C>T c.(814-816)gtC>gtT p.V272V DLL3_uc010egq.3_Silent_p.V272V|DLL3_uc002olw.2_Silent_p.V272V NM_016941 NP_058637 Q9NYJ7 DLL3_HUMAN Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA. 272 Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GATGCCTTGTCCCTGGGCCTG 0.642000 41 25 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85774560 85774560 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:85774560C>T uc003yct.4 + 5 616 c.482C>T c.(481-483)cCa>cTa p.P161L RALYL_uc003ycq.4_Missense_Mutation_p.P148L|RALYL_uc003ycr.4_Missense_Mutation_p.P148L|RALYL_uc003ycs.4_Missense_Mutation_p.P148L|RALYL_uc010lzy.3_Missense_Mutation_p.P137L|RALYL_uc003ycu.4_Missense_Mutation_p.P75L NM_001100391 NP_776247 Q86SE5 RALYL_HUMAN Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA. 148 RNA binding|identical protein binding|nucleotide binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 CGTGTGCCTCCACCTCCCCGT 0.488000 24 8 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509723 106509723 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:106509723G>A uc003vdv.4 + 1 1802 c.1717G>A c.(1717-1719)Gaa>Aaa p.E573K PIK3CG_uc003vdu.3_Missense_Mutation_p.E573K|PIK3CG_uc003vdw.3_Missense_Mutation_p.E573K NM_002649 NP_002640 P48736 PK3CG_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA. 573 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AGAGGACAAAGAATTGCTCTG 0.473000 47 15 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38885838 38885838 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:38885838G>A uc021yzh.1 + 69 10555 c.10446G>A c.(10444-10446)ggG>ggA p.G3482G DNAH8_uc003ooe.2_Silent_p.G3265G|LOC100131047_uc003oof.2_Intron NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAGTCTGTGGGAATGTGGCTG 0.388000 43 16 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971116 21971116 + Missense_Mutation SNP G A A rs11552823 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:21971116G>A uc003zpk.3 - 1 548 c.242C>T c.(241-243)cCc>cTc p.P81L MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P81L|CDKN2A_uc003zpl.3_Silent_p.T95T NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 81 P -> L (in some patients with melanoma; impairs the function; dbSNP:rs11552823).|P -> T (in CMM2; loss of CDK4 binding). G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P81L(16)|p.P81H(4)|p.R80Q(2)|p.E61_L94del(2)|p.P81_A85del(2)|p.R80fs*34(2)|p.R80?(2)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.R80fs*66(1)|p.P81S(1)|p.A76fs*64(1)|p.P81fs*38(1)|p.A68fs*3(1)|p.R80L(1)|p.P81T(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GTCGTGCACGGGTCGGGTGAG 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 31 55 0 0 1 0 0 SPDYE4 388333 broad.mit.edu 37 17 8658918 8658918 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:8658918G>A uc010cnz.1 - 3 582 c.405C>T c.(403-405)ctC>ctT p.L135L NM_001128076 NP_001121548 A6NLX3 SPDE4_HUMAN Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA. 135 breast(1)|endometrium(2)|kidney(1) 4 CCATAGCCAGGAGATACTGAT 0.522000 29 34 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610257 47610257 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:47610257C>T uc001cqv.1 + 7 984 c.933C>T c.(931-933)ctC>ctT p.L311L CYP4A22_uc009vyo.3_Silent_p.L311L|CYP4A22_uc009vyp.3_Intron NM_001010969 NP_001010969 Q5TCH4 CP4AM_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA. 311 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 ACAAGGACCTCCGTGCTGAGG 0.552000 105 45 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168103907 168103907 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:168103907G>A uc002udx.3 + 8 6094 c.6005G>A c.(6004-6006)gGg>gAg p.G2002E XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G1827E|XIRP2_uc010fpq.3_Missense_Mutation_p.G1780E|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1827 actin cytoskeleton organization cell junction actin binding p.M2001I(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAAACTATGGGGAAATCTTGC 0.453000 34 22 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20620541 20620541 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:20620541G>A uc003gpr.1 + 36 4703 c.4499G>A c.(4498-4500)cGg>cAg p.R1500Q SLIT2_uc003gps.1_Missense_Mutation_p.R1492Q NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1500 CTCK. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 AGCAAGCGGCGGAAATACTCT 0.557000 34 14 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98567828 98567828 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:98567828G>A uc003upp.3 + 50 7794 c.7585G>A c.(7585-7587)Gat>Aat p.D2529N TRRAP_uc011kis.2_Missense_Mutation_p.D2511N|TRRAP_uc003upr.3_Missense_Mutation_p.D2228N NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 2529 histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CAACCTGGCCGATAGCCACGA 0.627000 88 28 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 154801065 154801065 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:154801065C>T uc002tyt.4 + 0 159 c.55C>T c.(55-57)Ctt>Ttt p.L19F GALNT13_uc002tyr.4_Missense_Mutation_p.L19F NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 19 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GATGTGGGTTCTTGTTGATGT 0.423000 74 57 0 0 1 0 0 CCDC57 284001 broad.mit.edu 37 17 80151902 80151902 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:80151902G>A uc002kdx.1 - 4 769 c.732C>T c.(730-732)agC>agT p.S244S CCDC57_uc002kdz.1_Silent_p.S244S NM_198082 NP_932348 Q2TAC2 CCD57_HUMAN Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA. 244 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) CCCCGGCTCGGCTCTGGAGCT 0.672000 23 27 0 0 1 0 0 C12orf12 196477 broad.mit.edu 37 12 91347528 91347528 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:91347528C>T uc001tbj.3 - 0 1426 c.992G>A c.(991-993)gGa>gAa p.G331E NM_152638 NP_689851 Q8TC90 CL012_HUMAN Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA. 331 Glu-rich. NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 27 ctcctcctctccctcctccac 0.547000 23 13 0 0 1 0 0 SHOX 6473 broad.mit.edu 37 X 591839 591839 + Missense_Mutation SNP T A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:591839T>A uc004cph.1 + 1 898 c.207T>A c.(205-207)caT>caA p.H69Q SHOX_uc004cpi.3_Missense_Mutation_p.H69Q NM_000451 NP_000442 O15266 SHOX_HUMAN Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA. 69 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.V68E(1) endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GCCCGGTGCATTTGTTCAAGG 0.612000 85 41 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151161517 151161517 + Missense_Mutation SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:151161517A>G uc011eem.1 + 15 3908 c.3820A>G c.(3820-3822)Agg>Ggg p.R1274G PLEKHG1_uc003qny.1_Missense_Mutation_p.R1215G NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA. 1215 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CAGAAGTTCAAGGTGTGAGAG 0.468000 19 33 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43748500 43748500 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:43748500G>A uc001zrs.3 - 11 2439 c.2291C>T c.(2290-2292)cCa>cTa p.P764L TP53BP1_uc010udp.2_Missense_Mutation_p.P764L|TP53BP1_uc001zrq.4_Missense_Mutation_p.P769L|TP53BP1_uc001zrr.4_Missense_Mutation_p.P769L|TP53BP1_uc010udq.1_Missense_Mutation_p.P769L NM_005657 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. 764 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TCTGGGAGATGGCTCTTTCAC 0.448000 Other conserved DNA damage response genes 28 27 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36873951 36873951 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:36873951C>T uc003cgj.3 - 20 7239 c.6991G>A c.(6991-6993)Ggg>Agg p.G2331R NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2331 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CTGCCTCTCCCCCTGCCCCTT 0.502000 70 47 0 0 1 0 0 CCDC135 84229 broad.mit.edu 37 16 57741474 57741474 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:57741474G>A uc002emi.3 + 6 1050 c.961G>A c.(961-963)Gac>Aac p.D321N CCDC135_uc002emj.3_Missense_Mutation_p.D321N|CCDC135_uc002emk.3_Missense_Mutation_p.D256N NM_032269 NP_115645 Q8IY82 CC135_HUMAN Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA. 321 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CTTCTTCATCGACCCATTCAC 0.572000 41 20 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98129906 98129906 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:98129906C>T uc001kml.2 - 19 3070 c.2829G>A c.(2827-2829)gaG>gaA p.E943E NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN Homo sapiens tolloid-like 2 (TLL2), mRNA. 943 CUB 5. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CGCAGTCGGCCTCCTCCTCAA 0.637000 29 23 0 0 1 0 0 RNF145 153830 broad.mit.edu 37 5 158585993 158585993 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:158585993G>A uc010jiq.2 - 10 1917 c.1767C>T c.(1765-1767)ggC>ggT p.G589G RNF145_uc011ddy.2_Silent_p.G573G|RNF145_uc003lxo.2_Silent_p.G587G|RNF145_uc011ddz.2_Silent_p.G576G|RNF145_uc003lxp.3_Silent_p.G559G|RNF145_uc021ygv.1_Non-coding_Transcript NM_001199380 NP_001186309 Q96MT1 RN145_HUMAN Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA. 559 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTTAAGACAGCCTGCATGGA 0.453000 24 4 0 0 1 0 0 KLHL10 317719 broad.mit.edu 37 17 40004299 40004299 + Missense_Mutation SNP G C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:40004299G>C uc010cxr.3 + 4 1709 c.1567G>C c.(1567-1569)Gag>Cag p.E523Q KLHL10_uc010wfw.2_Missense_Mutation_p.E435Q NM_152467 NP_689680 Q6JEL2 KLH10_HUMAN Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA. 523 cytoplasm breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) TTTTGGCATCGAGGTGGTGGA 0.473000 59 31 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134851608 134851608 + Silent SNP C T T rs113043235 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:134851608C>T uc003eqt.3 + 4 1389 c.1014C>T c.(1012-1014)atC>atT p.I338I EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Missense_Mutation_p.S227L|EPHB1_uc003equ.3_5'UTR NM_004441 NP_004432 P54762 EPHB1_HUMAN Homo sapiens EPH receptor B1 (EPHB1), mRNA. 338 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 AGACGTCCATCATTCTGGAGT 0.562000 26 16 0 0 1 0 0 UBAP2L 9898 broad.mit.edu 37 1 154223553 154223553 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:154223553C>T uc001fep.4 + 12 1417 c.1250C>T c.(1249-1251)cCc>cTc p.P417L UBAP2L_uc009wot.3_Missense_Mutation_p.P417L|UBAP2L_uc010pek.2_Missense_Mutation_p.P409L|UBAP2L_uc010pel.2_Missense_Mutation_p.P427L|UBAP2L_uc010pen.2_Missense_Mutation_p.P331L NM_014847 NP_055662 Q14157 UBP2L_HUMAN Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA. 417 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GTGCACAGCCCCTTTACAAAG 0.483000 63 40 0 0 1 0 0 ODZ4 26011 broad.mit.edu 37 11 78437243 78437243 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:78437243G>A uc001ozl.4 - 22 3894 c.3431C>T c.(3430-3432)tCc>tTc p.S1144F NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1144 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 ATCTGGGCAGGATTCATATTC 0.468000 111 71 0 0 1 0 0 SEC14L5 9717 broad.mit.edu 37 16 5057485 5057485 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:5057485G>A uc002cye.2 + 12 1750 c.1570G>A c.(1570-1572)Gag>Aag p.E524K NM_014692 NP_055507 O43304 S14L5_HUMAN Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA. 524 GOLD. integral to membrane|intracellular transporter activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 AGCCCCCCACGAGGTGCCAGG 0.607000 19 15 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7669791 7669791 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:7669791C>T uc002giu.1 + 20 3681 c.3667C>T c.(3667-3669)Ctg>Ttg p.L1223L NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1223 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCTTCAGAACCTGGAGAAGGT 0.587000 9 11 0 0 1 0 0 NEUROD1 4760 broad.mit.edu 37 2 182543356 182543356 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:182543356C>T uc021vto.1 - 0 232 c.232G>A c.(232-234)Gat>Aat p.D78N CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.D78N|NEUROD1_uc021vtn.1_Missense_Mutation_p.D78N NM_002500 NP_002491 Q13562 NDF1_HUMAN Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA. 78 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.088) GGCTTTTGATCGTCAtcctcc 0.547000 317 127 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271698 1271698 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:1271698C>T uc001lta.3 + 30 13647 c.13588C>T c.(13588-13590)Ctg>Ttg p.L4530L NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4530 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTCCTCCTCCCTGGGCACCAC 0.627000 47 37 0 0 1 0 0 TRIM51 84767 broad.mit.edu 37 11 55655574 55655574 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:55655574G>A uc010rip.2 + 3 666 c.574G>A c.(574-576)Gaa>Aaa p.E192K TRIM51_uc010riq.2_Missense_Mutation_p.E49K NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA. 192 intracellular zinc ion binding ATTTCTCCATGAAGAAGAGCA 0.413000 29 11 0 0 1 0 0 PRDM14 63978 broad.mit.edu 37 8 70981529 70981529 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:70981529C>T uc003xym.3 - 1 769 c.567G>A c.(565-567)ggG>ggA p.G189G NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN Homo sapiens PR domain containing 14 (PRDM14), mRNA. 189 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) CAGGGGACTTCCCTTCTTGGT 0.587000 29 35 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196664178 196664178 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:196664178C>T uc002utj.4 - 54 10296 c.10195G>A c.(10195-10197)Gaa>Aaa p.E3399K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 3399 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATTATAAATTCCTGCAACATT 0.363000 85 33 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61654341 61654341 + Silent SNP C T T rs146858814 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:61654341C>T uc002ljv.3 + 6 1123 c.954C>T c.(952-954)ttC>ttT p.F318F SERPINB8_uc002lju.3_Silent_p.F318F|SERPINB8_uc010xex.2_Silent_p.F136F NM_198833 NP_942130 P50452 SPB8_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA. 318 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) ACAAGTGCTTCGTGGAGGTCA 0.527000 25 13 0 0 1 0 0 PEBP4 157310 broad.mit.edu 37 8 22777733 22777733 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:22777733C>T uc003xcn.1 - 2 314 c.222G>A c.(220-222)tgG>tgA p.W74* NM_144962 NP_659399 Q96S96 PEBP4_HUMAN Homo sapiens phosphatidylethanolamine-binding protein 4 (PEBP4), mRNA. 74 lysosome breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2) 10 Prostate(55;0.0453)|Breast(100;0.103) Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124) TCGGCTCCATCCAGGAGGTGA 0.537000 31 10 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4388762 4388762 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:4388762C>T uc010qye.2 - 0 855 c.764G>A c.(763-765)gGg>gAg p.G255E NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA. 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GATGCCAGACCCATAAAAGAG 0.493000 56 26 0 0 1 0 0 CYP4A11 1579 broad.mit.edu 37 1 47402384 47402384 + Silent SNP G A A rs9333005 byFrequency TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:47402384G>A uc001cqp.4 - 3 513 c.462C>T c.(460-462)atC>atT p.I154I CYP4A11_uc001cqq.2_Silent_p.I154I|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 154 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) AGGGCTTCAGGATGTCATAGT 0.547000 35 40 0 0 1 0 0 BSND 7809 broad.mit.edu 37 1 55472806 55472806 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:55472806G>A uc001cye.3 + 2 652 c.409G>A c.(409-411)Ggg>Agg p.G137R NM_057176 NP_476517 Q8WZ55 BSND_HUMAN Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA. 137 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 CCCTGAGATGGGGCAGCCGAA 0.612000 67 24 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529680 5529680 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:5529680C>T uc021qcw.1 - 0 1109 c.1109G>A c.(1108-1110)aGc>aAc p.S370N HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.S370N NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 370 p.S370I(2) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGTTCCTGGCTTTGGCTGAG 0.542000 127 58 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815087 106815087 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:106815087C>T uc003ymd.3 + 7 2800 c.2777C>T c.(2776-2778)tCc>tTc p.S926F ZFPM2_uc011lhs.2_Missense_Mutation_p.S657F NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 926 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AAGCAGCCTTCCCCCAATGGA 0.423000 22 12 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507330 74507330 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:74507330C>T uc001dfy.4 - 6 1477 c.1285G>A c.(1285-1287)Gaa>Aaa p.E429K LRRIQ3_uc001dfz.4_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 429 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTCTTTTGTTCTGTGTAATAT 0.363000 19 56 0 0 1 0 0 OR9Q2 219957 broad.mit.edu 37 11 57958119 57958119 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:57958119C>T uc010rka.2 + 0 214 c.157C>T c.(157-159)Cgt>Tgt p.R53C NM_001005283 NP_001005283 Q8NGE9 OR9Q2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily Q, member 2 (OR9Q2), mRNA. 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R53H(1) breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Breast(21;0.0589) CCGTGGCGATCGTCGGCTCCA 0.527000 16 18 0 0 1 0 0 DIS3L2 129563 broad.mit.edu 37 2 233128139 233128139 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:233128139C>T uc010fxz.3 + 12 1924 c.1648C>T c.(1648-1650)Cgt>Tgt p.R550C DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA. 550 RNA binding|exonuclease activity|ribonuclease activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) CGGCGCACTTCGTTTGGATCA 0.542000 24 15 0 0 1 0 0 PRODH2 58510 broad.mit.edu 37 19 36297475 36297475 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:36297475C>T uc002obx.1 - 7 1104 c.1086G>A c.(1084-1086)agG>agA p.R362R NM_021232 NP_067055 Q9UF12 PROD2_HUMAN Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA. 362 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCTCTGCATCCCTCCCCAGCC 0.632000 70 33 0 0 1 0 0 KRT40 125115 broad.mit.edu 37 17 39138698 39138698 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:39138698G>A uc010cxh.1 - 4 709 c.548C>T c.(547-549)tCc>tTc p.S183F KRT40_uc002hvq.1_Non-coding_Transcript NM_182497 NP_872303 Q6A162 K1C40_HUMAN Homo sapiens keratin 40 (KRT40), mRNA. 183 Coil 1B.|Rod. intermediate filament structural molecule activity endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 9 Breast(137;0.00043) CTGGCGAAGGGACAGTTCACT 0.527000 52 28 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89128840 89128840 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:89128840G>A uc003yeb.4 - 5 1261 c.979C>T c.(979-981)Cgg>Tgg p.R327W NM_005941 NP_005932 P51512 MMP16_HUMAN Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA. 327 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding p.R327Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 GTTGGAGGCCGAGGAGGTTTT 0.522000 111 41 0 0 1 0 0 PIGN 23556 broad.mit.edu 37 18 59763177 59763177 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:59763177G>A uc021ulb.1 - 19 2116 c.2084C>T c.(2083-2085)tCc>tTc p.S695F PIGN_uc021ulc.1_Missense_Mutation_p.S321F|PIGN_uc021uld.1_Missense_Mutation_p.S321F NM_176787 NP_789744 O95427 PIGN_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA. 695 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphotransferase activity, for other substituted phosphate groups breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(73;0.187) CACAACCAAGGAAGAGGCTGC 0.453000 12 8 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18025674 18025674 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:18025674C>T uc021trm.1 + 0 3779 c.3560C>T c.(3559-3561)tCc>tTc p.S1187F MYO15A_uc021trl.1_Missense_Mutation_p.S1187F NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 1187 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCCTGCCTGTCCCTTAGGGGC 0.637000 12 21 0 0 1 0 0 POU6F2 11281 broad.mit.edu 37 7 39125506 39125506 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:39125506G>A uc003thb.2 + 2 208 c.65G>A c.(64-66)cGg>cAg p.R22Q POU6F2_uc022acb.1_Missense_Mutation_p.R22Q|POU6F2_uc010kxo.3_Missense_Mutation_p.R14Q NM_007252 NP_009183 P78424 PO6F2_HUMAN Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. 22 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CTGTCAGTGCGGAGTGAAATG 0.502000 17 25 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10943004 10943004 + Nonsense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr21:10943004G>A uc002yip.1 - 11 951 c.583C>T c.(583-585)Cga>Tga p.R195* TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R177*|TPTE_uc002yir.1_Nonsense_Mutation_p.R157*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R57* NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 195 R -> Q (in dbSNP:rs1810856). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R177*(2)|p.R195K(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CGTAGAAGTCGAAGTAAATGT 0.308000 21 10 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95557277 95557277 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:95557277C>T uc001kjc.4 + 7 1727 c.1391C>T c.(1390-1392)tCg>tTg p.S464L LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.S416L|LGI1_uc009xui.3_Non-coding_Transcript NM_005097 NP_005088 O95970 LGI1_HUMAN Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA. 464 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) GGAGGCTCCTCGTTCCAGGAT 0.443000 34 22 0 0 1 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45945791 45945791 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:45945791C>T uc001nbv.1 + 3 566 c.455C>T c.(454-456)gCt>gTt p.A152V GYLTL1B_uc001nbw.1_Missense_Mutation_p.A121V|GYLTL1B_uc001nbx.1_Missense_Mutation_p.A152V NM_152312 NP_689525 Q8N3Y3 LARG2_HUMAN Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA. 152 muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) ATGGTGCCTGCTGTCCGTGTC 0.597000 51 25 0 0 1 0 0 KLB 152831 broad.mit.edu 37 4 39409134 39409134 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:39409134C>T uc003gua.3 + 0 662 c.565C>T c.(565-567)Cct>Tct p.P189S KLB_uc011byj.2_Missense_Mutation_p.P189S NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN Homo sapiens klotho beta (KLB), mRNA. 189 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 AAACATTGAACCTATAGTTAC 0.413000 36 22 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539831 56539831 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:56539831C>T uc002qmj.3 + 6 2232 c.2232C>T c.(2230-2232)ttC>ttT p.F744F NLRP5_uc002qmi.3_Silent_p.F725F NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 744 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) AAGGGATCTTCCCAAGAGATG 0.517000 135 74 0 0 1 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424192 69424192 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:69424192G>A uc004dxx.1 + 5 782 c.685G>A c.(685-687)Gaa>Aaa p.E229K NM_198512 NP_940914 Q6ZPD8 DG2L6_HUMAN Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA. 229 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 TGGTGAGAACGAAGTTTTCAA 0.468000 2 17 0 0 1 0 0 SIL1 64374 broad.mit.edu 37 5 138456734 138456734 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:138456734G>A uc003ldo.3 - 3 440 c.234C>T c.(232-234)gcC>gcT p.A78A SIL1_uc003ldp.3_Silent_p.A78A NM_001037633 NP_071909 Q9H173 SIL1_HUMAN Homo sapiens SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1), transcript variant 1, mRNA. 78 Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity). intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTGGCTGAAGGGCCTGCCACT 0.552000 Marinesco-Sjgren syndrome 33 41 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389492 20389492 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:20389492C>T uc010tkw.2 + 0 727 c.727C>T c.(727-729)Cat>Tat p.H243Y NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S242F(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTGGCTTCCCATATTGCAGT 0.403000 37 51 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091221 143091222 + Missense_Mutation DNP GG AA AA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:143091221_143091222GG>AA uc003qjd.3 - 4 5397_5398 c.4654_4655CC>TT c.(4654-4656)ccg>TTg p.P1552L NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 1552 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CTTCTGCCCCGGAAGTGGTGCC 0.540000 10 23 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30666872 30666872 + Missense_Mutation SNP C A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:30666872C>A uc002dyy.3 + 9 1622 c.1364C>A c.(1363-1365)cCt>cAt p.P455H PRR14_uc002dyz.3_Missense_Mutation_p.P300H|PRR14_uc002dza.3_Missense_Mutation_p.P455H NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN Homo sapiens proline rich 14 (PRR14), mRNA. 455 breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) CCAGCCCGTCCTCAGCTAAAC 0.547000 24 3 0.115264 0.115601 1 1 0 HIP1R 9026 broad.mit.edu 37 12 123339876 123339876 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:123339876C>T uc001udj.1 + 10 976 c.917C>T c.(916-918)cCc>cTc p.P306L HIP1R_uc001udg.1_Missense_Mutation_p.P294L|HIP1R_uc001udi.1_Missense_Mutation_p.P306L|HIP1R_uc001udk.1_5'Flank NM_003959 NP_003950 O75146 HIP1R_HUMAN Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA. 306 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) GTGGTGATCCCCGAGGAGGCC 0.687000 8 5 0 0 1 0 0 MAN2B1 4125 broad.mit.edu 37 19 12774560 12774561 + Missense_Mutation DNP CC TT TT rs11554970 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:12774560_12774561CC>TT uc002mub.2 - 4 795_796 c.719_720GG>AA c.(718-720)cgg>cAA p.R240Q MAN2B1_uc010dyv.1_Missense_Mutation_p.R240Q NM_000528 NP_000519 O00754 MA2B1_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA. 240 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGGTGCTGGCCCGCCACACCTG 0.619000 17 10 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11326104 11326104 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:11326104C>T uc002mqs.4 - 31 4106 c.4065G>A c.(4063-4065)aaG>aaA p.K1355K DOCK6_uc010xlq.2_Silent_p.K694K NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA. 1355 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GTGTGACGCTCTTCCGCCAGC 0.582000 20 7 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110535604 110535604 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:110535604C>T uc003yne.3 + 75 12577 c.12473C>T c.(12472-12474)cCc>cTc p.P4158L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 4158 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GACCTTACTCCCCTTAGAACA 0.393000 HNSCC(38;0.096) 90 33 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241715312 241715312 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:241715312G>A uc010fzk.3 - 10 1161 c.914C>T c.(913-915)cCg>cTg p.P305L KIF1A_uc002vzy.3_Missense_Mutation_p.P305L|KIF1A_uc002vzz.2_Missense_Mutation_p.P305L NM_001244008 NP_001230937 Q12756 KIF1A_HUMAN Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA. 305 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ATCTCGGTACGGAATGAAATC 0.572000 22 21 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98362054 98362054 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:98362054C>T uc001kmq.3 - 15 2471 c.2343G>A c.(2341-2343)ccG>ccA p.P781P PIK3AP1_uc001kmo.3_Silent_p.P380P|PIK3AP1_uc001kmp.3_Silent_p.P603P NM_152309 NP_689522 Q6ZUJ8 BCAP_HUMAN Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA. 781 Pro-rich. cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) AGGCAGCTCTCGGAGGCACCC 0.507000 38 23 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57766887 57766887 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr20:57766887C>T uc002yan.3 + 0 813 c.813C>T c.(811-813)tcC>tcT p.S271S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 271 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) GTCCAGGGTCCGCATTTGCCG 0.642000 58 38 0 0 1 0 0 WEE2 494551 broad.mit.edu 37 7 141408769 141408769 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:141408769G>A uc003vwn.2 + 0 617 c.211G>A c.(211-213)Gaa>Aaa p.E71K FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron NM_001105558 NP_001099028 P0C1S8 WEE2_HUMAN Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA. 71 egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) CACATCTTCGGAAAAAGACAA 0.517000 107 112 0 0 1 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049231 36049231 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:36049231C>T uc003jjz.2 - 3 735 c.603G>A c.(601-603)gtG>gtA p.V201V UGT3A2_uc011cos.2_Silent_p.V167V|UGT3A2_uc011cot.2_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 201 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GAAAATTCTTCACTCGGCCCC 0.458000 37 21 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863067 55863067 + Missense_Mutation SNP A T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:55863067A>T uc010spn.2 - 0 856 c.856T>A c.(856-858)Ttt>Att p.F286I NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA. 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 GTATAAATAAATGGGTTTAAC 0.343000 35 22 0 0 1 0 0 CRISP1 167 broad.mit.edu 37 6 49803098 49803098 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:49803098C>T uc003ozw.2 - 7 760 c.681G>A c.(679-681)ctG>ctA p.L227L CRISP1_uc003ozx.2_3'UTR|CRISP1_uc021zaj.1_Silent_p.L227L NM_001131 NP_001192149 P54107 CRIS1_HUMAN Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA. 227 fusion of sperm to egg plasma membrane extracellular space p.L227L(2) endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) GGTTGCATCCCAGATAATGGA 0.363000 19 27 0 0 1 0 0 COL3A1 1281 broad.mit.edu 37 2 189854129 189854129 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:189854129C>T uc002uqj.1 + 7 761 c.644C>T c.(643-645)cCa>cTa p.P215L COL3A1_uc010frw.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA. 215 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CAGGGCCCTCCAGGACCTCCT 0.338000 8 5 0 0 1 0 0 ANP32C 23520 broad.mit.edu 37 4 165118846 165118846 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:165118846C>T uc011cjk.2 - 0 18 c.18G>A c.(16-18)cgG>cgA p.R6R MARCH1_uc003iqs.2_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA. 6 NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4) 35 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) CTGAATGAATCCGTCTGCCCA 0.552000 59 35 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21993005 21993005 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:21993005G>A uc001wbe.3 - 1 1139 c.857C>T c.(856-858)cCt>cTt p.P286L SALL2_uc010tly.2_Missense_Mutation_p.P284L|SALL2_uc010tlz.1_Missense_Mutation_p.P149L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.P151L|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA. 286 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) AGCAGAGAAAGGATGCTGTGA 0.602000 16 19 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34851472 34851472 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:34851472G>A uc003teh.1 + 3 603 c.475G>A c.(475-477)Gga>Aga p.G159R NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.G159R|NPSR1_uc010kwt.1_Missense_Mutation_p.G6R|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Missense_Mutation_p.G159R|NPSR1_uc010kww.1_Missense_Mutation_p.G148R|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron NM_207173 NP_997056 Q6W5P4 NPSR1_HUMAN Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA. 159 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) GTTCCTTCAAGGAGGTGAGCT 0.448000 103 31 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 8991724 8991724 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:8991724C>T uc001quz.4 + 9 1084 c.986C>T c.(985-987)gCc>gTc p.A329V NM_144670 NP_653271 B3KVV6 B3KVV6_HUMAN Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA. 173 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GAGGCCAATGCCACTCAGAAT 0.423000 22 17 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30899736 30899736 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:30899736G>A uc003aid.2 - 1 158 c.58C>T c.(58-60)Cgg>Tgg p.R20W SEC14L4_uc011akz.1_Missense_Mutation_p.R20W|SEC14L4_uc003aie.2_5'UTR|SEC14L4_uc003aif.2_5'UTR NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 20 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) AGGTTCTCCCGGAACTGAGCG 0.627000 40 15 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74957823 74957823 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:74957823C>T uc001dge.2 + 24 2594 c.2527C>T c.(2527-2529)Cct>Tct p.P843S FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.P742S NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 742 cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GTCTCTCTCACCTTCTTCTTC 0.473000 41 120 0 0 1 0 0 SP140L 93349 broad.mit.edu 37 2 231222634 231222635 + Missense_Mutation DNP CC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:231222634_231222635CC>TT uc010fxm.1 + 2 313_314 c.222_223CC>TT c.(220-225)ttcctt>ttTTtt p.L75F SP140_uc010zma.1_Non-coding_Transcript|SP140L_uc010fxn.2_5'UTR NM_138402 NP_612411 Q9H930 LY10L_HUMAN Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA. 75 HSR. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 CATTTCCATTCCTTGAGGGCCT 0.371000 124 48 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38271940 38271940 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:38271940C>T uc003auf.3 + 9 1077 c.999C>T c.(997-999)atC>atT p.I333I EIF3L_uc011ann.2_Silent_p.I285I|EIF3L_uc003aug.3_Silent_p.I225I NM_016091 NP_057175 Q9Y262 EIF3L_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA. 333 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 AGGATGCCATCCGGGTCTTCG 0.502000 117 77 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580900 140580900 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140580900C>T uc003liy.3 + 0 1553 c.1553C>T c.(1552-1554)tCg>tTg p.S518L NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 518 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCTCAGGTCGCTGGACTAC 0.677000 79 16 0 0 1 0 0 CARS 833 broad.mit.edu 37 11 3039907 3039907 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:3039907T>C uc001lxf.3 - 12 1552 c.1468A>G c.(1468-1470)Atg>Gtg p.M490V CARS_uc010qxo.2_Missense_Mutation_p.M490V|CARS_uc001lxe.3_Missense_Mutation_p.M397V|CARS_uc001lxg.3_Missense_Mutation_p.M407V|CARS_uc001lxh.3_Missense_Mutation_p.M407V|CARS_uc010qxp.2_Missense_Mutation_p.M420V NM_001014437 NP_001014437 P49589 SYCC_HUMAN Homo sapiens cysteinyl-tRNA synthetase (CARS), transcript variant 3, mRNA. 407 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) GACTTTGACATTTTGCAGCCT 0.478000 T ALK ALCL 36 32 0 0 1 0 0 SERPINA4 5267 broad.mit.edu 37 14 95029831 95029831 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:95029831C>T uc010avd.3 + 1 397 c.123C>T c.(121-123)atC>atT p.I41I SERPINA4_uc001ydk.3_Silent_p.I4I|SERPINA4_uc001ydl.3_Silent_p.I4I NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 4 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) TGCATCTTATCGACTACCTGC 0.557000 23 34 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138449656 138449656 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:138449656G>A uc003ihe.4 - 2 3103 c.2716C>T c.(2716-2718)Ctc>Ttc p.L906F PCDH18_uc003ihf.4_Missense_Mutation_p.L898F|PCDH18_uc011cgz.2_Missense_Mutation_p.L117F|PCDH18_uc003ihg.4_Missense_Mutation_p.L685F|PCDH18_uc011cha.2_Missense_Mutation_p.L86F NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN Homo sapiens protocadherin 18 (PCDH18), mRNA. 906 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CCATCTGTGAGAAACAGGTCG 0.448000 135 82 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29997949 29997949 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:29997949C>T uc010bzm.2 + 14 2412 c.2377C>T c.(2377-2379)Caa>Taa p.Q793* BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Intron|TAOK2_uc002dva.2_Nonsense_Mutation_p.Q786*|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Nonsense_Mutation_p.Q613* NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA. 786 Glu-rich. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 AGTCCTGGACCAAAGAATGCT 0.607000 47 39 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15752255 15752255 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:15752255C>T uc010xok.2 + 1 80 c.30C>T c.(28-30)ggC>ggT p.G10G CYP4F3_uc010xol.2_Silent_p.G10G|CYP4F3_uc002nbj.3_Silent_p.G10G|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Silent_p.G10G NM_001199208 NP_001186137 Q08477 CP4F3_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA. 10 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 CCTCGCTGGGCCTTTGGCCAA 0.657000 35 18 0 0 1 0 0 LPPR5 163404 broad.mit.edu 37 1 99422250 99422251 + Missense_Mutation DNP CC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:99422250_99422251CC>TT uc001dsb.3 - 1 506_507 c.284_285GG>AA c.(283-285)agg>aAA p.R95K LPPR5_uc001dsc.3_Missense_Mutation_p.R95K NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA. 95 integral to membrane hydrolase activity TTTCAAAATCCCTTGTGGCTAG 0.347000 12 28 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45015211 45015211 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:45015211C>T uc010ejn.1 - 11 1630 c.1614G>A c.(1612-1614)acG>acA p.T538T CEACAM20_uc010ejo.1_Silent_p.T526T|CEACAM20_uc010ejp.1_Silent_p.T445T|CEACAM20_uc010ejq.1_Silent_p.T433T NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 538 integral to membrane p.T537M(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) AAGGCAGCTTCGTCTGCAAGT 0.532000 195 89 0 0 1 0 0 MB 4151 broad.mit.edu 37 22 36013287 36013287 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:36013287C>T uc003anz.3 - 0 98 c.18G>A c.(16-18)ggG>ggA p.G6G MB_uc003aoa.3_Silent_p.G6G|MB_uc003aob.3_Silent_p.G6G NM_005368 NP_976312 P02144 MYG_HUMAN Homo sapiens myoglobin (MB), transcript variant 1, mRNA. 6 heme binding|oxygen transporter activity lung(1) 1 ACTGCCATTCCCCGTCGCTGA 0.577000 49 21 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56467098 56467098 + Missense_Mutation SNP C A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:56467098C>A uc002qmh.3 + 2 1745 c.1674C>A c.(1672-1674)ttC>ttA p.F558L NLRP8_uc010etg.3_Missense_Mutation_p.F558L NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 558 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TGGGACTTTTCTTATTCGGTT 0.458000 27 24 1.22574e-08 1.23898e-08 1 1 0 POTEG 404785 broad.mit.edu 37 14 19553804 19553804 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:19553804G>A uc001vuz.1 + 0 440 c.388G>A c.(388-390)Gag>Aag p.E130K POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 130 p.E130*(2) cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 CGCTTTCATGGAGCCGAGGTA 0.592000 99 27 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542973 133542973 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:133542973C>T uc002ttp.3 - 13 1785 c.1411G>A c.(1411-1413)Gat>Aat p.D471N NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 471 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GAATCTAGATCATAAACAAAT 0.502000 53 22 0 0 1 0 0 C1QA 712 broad.mit.edu 37 1 22965376 22965376 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:22965376G>A uc001bfy.3 + 2 299 c.214G>A c.(214-216)Gaa>Aaa p.E72K NM_015991 NP_057075 P02745 C1QA_HUMAN Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA. 72 Collagen-like. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGACCAGGGGGAACCTGGGCC 0.642000 9 11 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4388942 4388942 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:4388942C>T uc010qye.2 - 0 675 c.584G>A c.(583-585)cGa>cAa p.R195Q NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA. 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R195*(1) NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) AATGTTTATTCGAATGTCATT 0.338000 26 18 0 0 1 0 0 B3GALT2 8707 broad.mit.edu 37 1 193149768 193149768 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:193149768G>A uc021pgr.1 - 0 925 c.925C>T c.(925-927)Cct>Tct p.P309S CDC73_uc001gtb.3_Intron|B3GALT2_uc001gtc.4_Missense_Mutation_p.P309S NM_003783 NP_003774 O43825 B3GT2_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2 (B3GALT2), mRNA. 309 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 16 CAGAAGACAGGATAACGCTCA 0.418000 38 17 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921582 130921582 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:130921582C>T uc001uil.2 - 9 2076 c.1860G>A c.(1858-1860)agG>agA p.R620R RIMBP2_uc001uim.3_Silent_p.R528R NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 620 Pro-rich. cell junction|synapse p.A619S(1) NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CCTCATCCATCCTGGCGTGGG 0.667000 18 15 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9063201 9063201 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:9063201G>A uc003jek.2 - 17 3028 c.2316C>T c.(2314-2316)ttC>ttT p.F772F NM_003966 NP_003957 Q13591 SEM5A_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA. 772 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CAGCACGCAGGAAATCCCCAG 0.542000 9 5 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7491972 7491972 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:7491972C>T uc003src.1 - 17 1604 c.1487G>A c.(1486-1488)gGa>gAa p.G496E COL28A1_uc011jxe.1_Missense_Mutation_p.G179E|COL28A1_uc003srd.3_Missense_Mutation_p.G51E NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA. 496 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TACTCCAATTCCCACTGGTCC 0.398000 71 22 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529669 80529669 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:80529669G>A uc021vjt.1 - 0 1276 c.1276C>T c.(1276-1278)Cac>Tac p.H426Y CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Missense_Mutation_p.H426Y NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA. 426 axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 ACCACCTTGTGGATCTGCACG 0.657000 HNSCC(69;0.2) 33 32 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124332555 124332555 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:124332555C>T uc001uft.4 + 31 5533 c.5508C>T c.(5506-5508)acC>acT p.T1836T NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 1836 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.T428T(1)|p.T1836T(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAGCAGGAACCGGCAAAACCG 0.557000 80 48 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124351962 124351962 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:124351962G>A uc001lgk.1 + 19 2457 c.2351G>A c.(2350-2352)gGa>gAa p.G784E DMBT1_uc001lgl.1_Missense_Mutation_p.G774E|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.G784E|DMBT1_uc021qag.1_Missense_Mutation_p.G774E|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G784E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.G397E NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 784 SRCR 6. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCGGCCCCAGGAAATGCCCGG 0.627000 120 91 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121228683 121228683 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:121228683G>A uc003yox.3 + 13 1956 c.1691G>A c.(1690-1692)gGt>gAt p.G564D COL14A1_uc003yoy.3_Missense_Mutation_p.G242D|COL14A1_uc010mde.1_Missense_Mutation_p.G242D NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 564 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CAGATCAATGGTTATCGAATT 0.403000 41 38 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71683303 71683303 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:71683303G>A uc002fax.3 - 17 3468 c.3462C>T c.(3460-3462)ccC>ccT p.P1154P PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Silent_p.P1087P|PHLPP2_uc021tkv.1_5'Flank NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA. 1154 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CCCCCTCAACGGGCTGGTCAT 0.562000 31 28 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363977 22363977 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:22363977G>A uc002nqs.1 - 2 860 c.542C>T c.(541-543)tCc>tTc p.S181F NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAGGGTTGAGGACCAGTTAAA 0.343000 36 14 0 0 1 0 0 PROL1 58503 broad.mit.edu 37 4 71275345 71275345 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:71275345G>A uc003hfi.3 + 2 474 c.300G>A c.(298-300)ccG>ccA p.P100P NM_021225 NP_067048 Q99935 PROL1_HUMAN Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA. 100 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) GACTCTTTCCGGGTTATCCAA 0.403000 87 60 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55543249 55543249 + Splice_Site SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:55543249G>A uc002ryv.2 - 22 4586 c.3744_splice c.e22-1 p.R1248_splice CCDC88A_uc010ypa.1_Splice_Site_p.R1248_splice|CCDC88A_uc010yoz.1_Splice_Site_p.R1249_splice|CCDC88A_uc002ryu.2_Splice_Site_p.R531_splice|CCDC88A_uc002rys.3_Splice_Site_p.R234_splice|CCDC88A_uc002ryw.3_Splice_Site_p.R532_splice|CCDC88A_uc010fby.1_Splice_Site_p.R128_splice NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA. 1249 DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 GTATGATTCAGCCTATAATTA 0.249000 9 6 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82033438 82033438 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:82033438G>A uc002fgu.3 - 2 588 c.460C>T c.(460-462)Cgg>Tgg p.R154W NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA. 154 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GACTTTGTCCGAGAGTAGTGA 0.532000 48 29 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13735983 13735983 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:13735983C>T uc003jfd.2 - 66 11556 c.11514G>A c.(11512-11514)gaG>gaA p.E3838E DNAH5_uc003jfc.2_Silent_p.E6E NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3838 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTGATACATCTCATTAACCA 0.498000 Kartagener syndrome 55 25 0 0 1 0 0 BAAT 570 broad.mit.edu 37 9 104130542 104130542 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:104130542G>A uc010mtd.3 - 2 638 c.529C>T c.(529-531)Cgg>Tgg p.R177W BAAT_uc004bbd.4_Missense_Mutation_p.R177W NM_001127610 NP_001692 Q14032 BAAT_HUMAN Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA. 177 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) AGGCTGGCCCGAAATTCAAGC 0.478000 26 8 0 0 1 0 0 SMYD1 150572 broad.mit.edu 37 2 88367503 88367503 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:88367503C>T uc002ssr.3 + 0 205 c.120C>T c.(118-120)tcC>tcT p.S40S SMYD1_uc002ssq.2_Silent_p.S40S NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA. 40 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 GGGCTTATTCCGCAGTGGTTT 0.493000 73 55 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44934706 44934706 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:44934706C>T uc002oze.1 - 5 684 c.250G>A c.(250-252)Gga>Aga p.G84R ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.G78R NM_014518 NP_055333 Q9UJW7 ZN229_HUMAN Homo sapiens zinc finger protein 229 (ZNF229), mRNA. 84 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) GTATCCTTTCCATTCTTGTCT 0.398000 13 8 0 0 1 0 0 EXD1 161829 broad.mit.edu 37 15 41483761 41483761 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:41483761G>A uc010ucv.2 - 9 1015 c.743C>T c.(742-744)tCc>tTc p.S248F EXD1_uc001znj.3_5'Flank|EXD1_uc001znk.3_Missense_Mutation_p.S190F NM_152596 NP_689809 Q8NHP7 EXD1_HUMAN Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA. 190 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 CGTTTCCATGGAAAACTGAAG 0.378000 28 20 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55948165 55948165 + Missense_Mutation SNP A T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:55948165A>T uc003has.3 - 28 4108 c.3806T>A c.(3805-3807)cTg>cAg p.L1269Q KDR_uc003hat.1_Missense_Mutation_p.L1269Q NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 1269 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CAAAGTTTTCAGCTCTTCTGA 0.363000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 58 23 0 0 1 0 0 OR1J2 26740 broad.mit.edu 37 9 125273492 125273492 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:125273492G>A uc011lyv.2 + 0 412 c.412G>A c.(412-414)Gaa>Aaa p.E138K OR1J2_uc004bmj.2_Missense_Mutation_p.E138K NM_054107 NP_473448 Q8NGS2 OR1J2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA. 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 CATCATGAGGGAAGAGCTCTG 0.473000 36 26 0 0 1 0 0 CELSR3 1951 broad.mit.edu 37 3 48683241 48683241 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:48683241G>A uc003cuf.1 - 24 7734 c.7734C>T c.(7732-7734)tcC>tcT p.S2578S CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Silent_p.S491S|CELSR3_uc003cul.3_Silent_p.S2508S|CELSR3_uc021wxq.1_5'Flank NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 2508 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACCGTGCGTGGGACCCATTCC 0.637000 23 15 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8656974 8656974 + Missense_Mutation SNP C A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:8656974C>A uc002mkj.1 - 13 1875 c.1601G>T c.(1600-1602)cGg>cTg p.R534L ADAMTS10_uc002mki.1_Missense_Mutation_p.G25W|ADAMTS10_uc002mkk.1_Missense_Mutation_p.R166L NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 534 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GACACAGACCCGTTTGTAGCA 0.701000 37 3 1 1 1 1 0 MAST1 22983 broad.mit.edu 37 19 12977540 12977540 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:12977540C>T uc002mvm.3 + 17 2231 c.2103C>T c.(2101-2103)atC>atT p.I701I NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 701 AGC-kinase C-terminal. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 CCGTGGAAATCCGCCAGTTCT 0.622000 16 6 0 0 1 0 0 ALDH9A1 223 broad.mit.edu 37 1 165634254 165634254 + Splice_Site SNP C T T rs140134210 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:165634254C>T uc001gdh.1 - 10 1567 c.1462_splice c.e10+1 p.G488_splice ALDH9A1_uc010pky.1_Splice_Site_p.G394_splice|ALDH9A1_uc010pkz.1_Splice_Site_p.G478_splice NM_000696 NP_000687 P49189 AL9A1_HUMAN Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA. 464 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) CAGCTCCTCACCTGACTTCTT 0.463000 6 29 0 0 1 0 0 CCR6 1235 broad.mit.edu 37 6 167549877 167549877 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:167549877C>T uc003qvl.3 + 12 2635 c.159C>T c.(157-159)taC>taT p.Y53Y CCR6_uc010kkm.3_Silent_p.Y53Y|CCR6_uc003qvn.4_Silent_p.Y53Y|CCR6_uc003qvm.4_Silent_p.Y53Y NM_031409 NP_113597 P51684 CCR6_HUMAN Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA. 53 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) CGATTGCCTACTCCTTGATCT 0.448000 21 52 0 0 1 0 0 BTK 695 broad.mit.edu 37 X 100608315 100608315 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:100608315G>A uc010nno.2 - 17 2110 c.1877C>T c.(1876-1878)tCc>tTc p.S626F BTK_uc004ehf.2_Missense_Mutation_p.S92F|BTK_uc010nnh.2_Non-coding_Transcript|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Non-coding_Transcript|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Non-coding_Transcript|BTK_uc010nnl.2_Missense_Mutation_p.S68F|BTK_uc010nnm.2_Missense_Mutation_p.S162F|BTK_uc004ehg.2_Missense_Mutation_p.S592F|BTK_uc010nnn.2_Missense_Mutation_p.S416F NM_000061 NP_000052 Q06187 BTK_HUMAN Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA. 592 Protein kinase. V -> G (in XLA). calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding p.S592F(1) breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTTCCCCAGGGAGTAAATTTC 0.438000 Agammaglobulinemia, X-linked 21 63 0 0 1 0 0 PDGFRB 5159 broad.mit.edu 37 5 149497276 149497276 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:149497276G>A uc003lro.3 - 21 3511 c.3042C>T c.(3040-3042)ccC>ccT p.P1014P PDGFRB_uc010jhd.3_Silent_p.P853P NM_002609 NP_002600 P09619 PGFRB_HUMAN Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA. 1014 aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CACCCTCATTGGGCTGCACGG 0.632000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 31 30 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906327 164906327 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:164906327C>T uc003fej.4 - 1 2736 c.2292G>A c.(2290-2292)gtG>gtA p.V764V SLITRK3_uc003fek.3_Silent_p.V764V|SLITRK3_uc021xgy.1_Silent_p.V764V NM_014926 NP_055741 O94933 SLIK3_HUMAN Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA. 764 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 ATGAAACAGCCACCTCCTCCT 0.577000 HNSCC(40;0.11) 55 39 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81197309 81197309 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:81197309G>A uc002fgh.1 - 20 3373 c.3373C>T c.(3373-3375)Cca>Tca p.P1125S PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 1125 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CTTCGGGCTGGAAAGGGGCTC 0.532000 7 3 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145493815 145493815 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:145493815G>A uc003lnx.1 - 31 3623 c.3385C>T c.(3385-3387)Cct>Tct p.P1129S LARS_uc003lnw.1_Missense_Mutation_p.P287S|LARS_uc011dbq.1_Missense_Mutation_p.P1083S|LARS_uc011dbr.1_Missense_Mutation_p.P1075S|LARS_uc011dbs.1_Missense_Mutation_p.P1102S NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN Homo sapiens leucyl-tRNA synthetase (LARS), mRNA. 1129 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CCCAGGACAGGAACTCGTCGA 0.413000 31 4 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104577406 104577406 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:104577406T>C uc003hxe.1 - 2 974 c.833A>G c.(832-834)gAa>gGa p.E278G NM_001059 NP_001050 P29371 NK3R_HUMAN Homo sapiens tachykinin receptor 3 (TACR3), mRNA. 278 integral to plasma membrane tachykinin receptor activity p.E278K(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) TCCTGGGATTTCTCCTCCCCA 0.403000 77 25 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924300 70924300 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:70924300C>T uc021rvq.1 + 0 84 c.84C>T c.(82-84)taC>taT p.Y28Y ADAM21_uc001xmd.3_Silent_p.Y28Y NM_003813 NP_003804 Q9UKJ8 ADA21_HUMAN Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA. 28 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TTTCCGGCTACTGTCAGGCTG 0.537000 32 32 0 0 1 0 0 SRD5A1 6715 broad.mit.edu 37 5 6633927 6633927 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:6633927C>T uc003jdw.3 + 0 428 c.238C>T c.(238-240)Cgc>Tgc p.R80C NSUN2_uc003jdu.3_5'Flank|NSUN2_uc011cmk.2_5'Flank|NSUN2_uc003jdv.3_5'Flank|SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Silent_p.S88S NM_001047 NP_001038 P18405 S5A1_HUMAN Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA. 80 androgen biosynthetic process|cell differentiation|sex determination|sex differentiation endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity p.L79L(1) endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Dutasteride(DB01126)|Finasteride(DB01216) CCCGCGTCTCCGCAGCGCGCC 0.741000 28 11 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36780013 36780013 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:36780013C>T uc010lvw.3 + 23 2689 c.2602C>T c.(2602-2604)Cct>Tct p.P868S KCNU1_uc003xjw.2_Non-coding_Transcript NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA. 868 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TGCAGAAAATCCTTCCAACAT 0.458000 45 17 0 0 1 0 0 OR6B3 150681 broad.mit.edu 37 2 240984523 240984523 + Missense_Mutation SNP G T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:240984523G>T uc010zoe.2 - 0 967 c.967C>A c.(967-969)Cat>Aat p.H323N PRR21_uc010zod.2_5'Flank NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA. 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) ATTTGGAGATGAAGTTCCAGA 0.418000 90 61 1.7104e-27 1.74085e-27 1 1 0 ICK 22858 broad.mit.edu 37 6 52878705 52878705 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:52878705G>A uc003pbh.2 - 9 1397 c.907C>T c.(907-909)Cca>Tca p.P303S ICK_uc003pbi.2_Missense_Mutation_p.P303S NM_016513 NP_057597 Q9UPZ9 ICK_HUMAN Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA. 303 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) CCTTTCTGTGGTTTTTCTGAA 0.498000 10 19 0 0 1 0 0 ABCB4 5244 broad.mit.edu 37 7 87041264 87041264 + Nonsense_Mutation SNP G A A rs121918440 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:87041264G>A uc003uiv.1 - 22 2945 c.2869C>T c.(2869-2871)Cga>Tga p.R957* ABCB4_uc003uiw.1_Nonsense_Mutation_p.R957*|ABCB4_uc003uix.1_Intron NM_018849 NP_061337 P21439 MDR3_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA. 957 ABC transmembrane type-1 2. cellular lipid metabolic process Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) GCACCAAATCGAAAACAACCG 0.328000 13 24 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71509727 71509727 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:71509727G>A uc011caw.1 + 8 2865 c.2584G>A c.(2584-2586)Gaa>Aaa p.E862K NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 862 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AGGTCAAAAAGAAGCACATTT 0.448000 32 20 0 0 1 0 0 ZBTB8A 653121 broad.mit.edu 37 1 33065969 33065969 + Silent SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:33065969T>C uc001bvn.3 + 4 1760 c.1275T>C c.(1273-1275)gtT>gtC p.V425V ZBTB8A_uc001bvk.3_Non-coding_Transcript|ZBTB8A_uc001bvm.3_3'UTR|ZBTB8OS_uc001bvo.1_Intron NM_001040441 NP_001035531 Q96BR9 ZBT8A_HUMAN Homo sapiens zinc finger and BTB domain containing 8A (ZBTB8A), mRNA. 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 TCCAACAGGTTGATGATAGTG 0.403000 19 36 0 0 1 0 0 WDR45 11152 broad.mit.edu 37 X 48934105 48934105 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:48934105G>A uc004dml.1 - 5 595 c.423C>T c.(421-423)acC>acT p.T141T WDR45_uc004dmi.3_5'Flank|WDR45_uc011mmt.2_Intron|WDR45_uc004dmj.1_Silent_p.T90T|WDR45_uc004dmk.1_Silent_p.T140T|WDR45_uc004dmn.1_Silent_p.T31T|WDR45_uc004dmp.1_Silent_p.T141T NM_007075 NP_009006 Q9Y484 WIPI4_HUMAN Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA. 140 autophagy|response to starvation organelle membrane phosphatidylinositol-3,5-bisphosphate binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 19 GGTTGTCCCGGGTATCAAACT 0.532000 16 40 0 0 1 0 0 CNKSR3 154043 broad.mit.edu 37 6 154587079 154587079 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:154587079C>T uc021zhc.1 - 12 1894 c.1389G>A c.(1387-1389)atG>atA p.M463I CNKSR3_uc003qpw.3_Missense_Mutation_p.M1I|CNKSR3_uc003qpx.3_Missense_Mutation_p.M1I|CNKSR3_uc010kjh.3_Missense_Mutation_p.M1I|CNKSR3_uc021zhd.1_Missense_Mutation_p.M45I|CNKSR3_uc021zhe.1_Missense_Mutation_p.M45I NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN Homo sapiens CNKSR family member 3 (CNKSR3), mRNA. 0 DUF1170. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane p.R463W(1) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) TGTATGATGTCATCTTAGTAG 0.333000 22 50 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106445042 106445042 + Splice_Site SNP A T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:106445042A>T uc021ser.1 - 2689 c.46182_splice c.e2689+1 Parts of antibodies, mostly variable regions. CCCAGGAGAAATTCCCCACGT 0.557000 3 3 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36362815 36362815 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:36362815G>A uc002oce.3 + 5 865 c.727G>A c.(727-729)Gag>Aag p.E243K APLP1_uc010xsz.2_Missense_Mutation_p.E204K|APLP1_uc002ocf.3_Missense_Mutation_p.E243K|APLP1_uc002ocg.3_Missense_Mutation_p.E146K|APLP1_uc010xta.2_Missense_Mutation_p.E237K NM_005166 NP_005157 P51693 APLP1_HUMAN Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA. 243 Poly-Glu. apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGCTGAGGACGAGGAAGAGGA 0.632000 59 39 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228520616 228520616 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:228520616C>T uc009xez.1 + 56 15752 c.15708C>T c.(15706-15708)ttC>ttT p.F5236F OBSCN_uc001hsn.3_Silent_p.F5236F|OBSCN_uc001hsr.1_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 5236 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CATCCTACTTCAGTGCCCAAG 0.612000 27 10 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071830 9071831 + Missense_Mutation DNP CC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:9071830_9071831CC>TT uc002mkp.3 - 2 15819_15820 c.15615_15616GG>AA c.(15613-15618)acggac>acAAac p.D5206N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5208 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 AAACTTGTGTCCGTGGGAAAGC 0.460000 112 37 0 0 1 0 0 C9orf43 257169 broad.mit.edu 37 9 116186556 116186556 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:116186556C>T uc004bhp.3 + 7 1213 c.767C>T c.(766-768)tCt>tTt p.S256F C9orf43_uc004bho.4_Missense_Mutation_p.S256F NM_152786 NP_689999 Q8TAL5 CI043_HUMAN Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA. 256 breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3) 15 AGTGTGATTTCTTCTAAGATG 0.433000 105 72 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111632298 111632298 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:111632298G>A uc010hqa.3 + 2 1879 c.1468G>A c.(1468-1470)Gat>Aat p.D490N PHLDB2_uc003dyc.3_Missense_Mutation_p.D517N|PHLDB2_uc003dyd.3_Missense_Mutation_p.D490N|PHLDB2_uc003dyg.3_Missense_Mutation_p.D490N|PHLDB2_uc003dyh.3_Missense_Mutation_p.D490N|PHLDB2_uc003dyi.3_Missense_Mutation_p.D76N|PHLDB2_uc003dyf.4_Missense_Mutation_p.D490N NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 490 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GCAGCTCTCTGATGAGGAGTC 0.522000 73 41 0 0 1 0 0 KIF18B 146909 broad.mit.edu 37 17 43003834 43003834 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:43003834G>A uc010wji.2 - 14 2510 c.2409C>T c.(2407-2409)gcC>gcT p.A803A KIF18B_uc002iht.3_Silent_p.A812A|KIF18B_uc010wjh.2_Silent_p.A800A NM_001080443 NP_001073912 Homo sapiens kinesin family member 18B (KIF18B), mRNA. breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) TGGGGAGGCGGGCGATGCGGC 0.617000 6 4 0 0 1 0 0 ZNF781 163115 broad.mit.edu 37 19 38160719 38160719 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:38160719G>A uc002ogy.2 - 3 1073 c.331C>T c.(331-333)Cat>Tat p.H111Y ZNF781_uc002ogz.2_Missense_Mutation_p.H106Y|ZNF781_uc021utu.1_Missense_Mutation_p.H111Y NM_152605 NP_689818 Q8N8C0 ZN781_HUMAN Homo sapiens zinc finger protein 781 (ZNF781), mRNA. 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 TCACCAGTATGAATTCTTTGA 0.378000 50 49 0 0 1 0 0 OR2L8 391190 broad.mit.edu 37 1 248112261 248112261 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:248112261C>T uc001idt.1 + 0 102 c.102C>T c.(100-102)ttC>ttT p.F34F OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTTTCATTTTCCTGATGGCTC 0.398000 57 218 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106815823 106815823 + RNA SNP T A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:106815823T>A uc021ser.1 - 558 c.15904A>T Parts of antibodies, mostly variable regions. AATCGGCCCTTCACGGAGTCT 0.522000 33 47 0 0 1 0 0 NSMCE2 286053 broad.mit.edu 37 8 126379036 126379036 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:126379036C>T uc003yrw.2 + 7 881 c.653C>T c.(652-654)aCg>aTg p.T218M NM_173685 NP_775956 Q96MF7 NSE2_HUMAN Homo sapiens non-SMC element 2, MMS21 homolog (S. cerevisiae) (NSMCE2), mRNA. 218 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) TGTAGCCACACGGATATAAGA 0.408000 176 78 0 0 1 0 0 CCDC144C 348254 broad.mit.edu 37 17 20261303 20261303 + RNA SNP G T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:20261303G>T uc010cqy.1 + 8 c.2146G>T Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA. breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1) 13 TAAACAAATGGAAAATATGGT 0.318000 14 18 9.57634e-11 9.68934e-11 1 1 0 ATE1 11101 broad.mit.edu 37 10 123670484 123670484 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:123670484C>T uc001lfp.3 - 4 602 c.520G>A c.(520-522)Gga>Aga p.G174R ATE1_uc001lfq.3_Missense_Mutation_p.G174R|ATE1_uc010qtr.2_Missense_Mutation_p.G59R|ATE1_uc010qts.2_Missense_Mutation_p.G78R|ATE1_uc010qtt.2_Missense_Mutation_p.G167R|ATE1_uc001lfr.3_5'UTR|ATE1_uc009xzu.3_Intron NM_007041 NP_008972 O95260 ATE1_HUMAN Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA. 174 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) AACTTCTCTCCTACGAAATCT 0.388000 34 34 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121981059 121981059 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:121981059C>T uc003eew.4 + 3 1615 c.1177C>T c.(1177-1179)Ccc>Tcc p.P393S CASR_uc003eev.4_Missense_Mutation_p.P393S NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 393 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) AGCCTTCCGACCCCTCTGTAC 0.493000 41 25 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16861094 16861094 + Silent SNP C G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:16861094C>G uc002neu.4 + 5 2063 c.1641C>G c.(1639-1641)gcC>gcG p.A547A NWD1_uc002net.4_Silent_p.A412A|NWD1_uc002nev.4_Silent_p.A341A|NWD1_uc021uqg.1_Silent_p.A412A NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 547 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGAAATGGGCCTCTTTCACCG 0.672000 15 9 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 85961618 85961618 + Missense_Mutation SNP G A A rs145952783 by1000genomes TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:85961618G>A uc003dql.3 + 4 604 c.604G>A c.(604-606)Gcg>Acg p.A202T CADM2_uc003dqj.3_Missense_Mutation_p.A200T|CADM2_uc003dqk.3_Missense_Mutation_p.A209T|CADM2_uc003dqm.2_Missense_Mutation_p.A92T|CADM2_uc021xay.1_Missense_Mutation_p.A92T|CADM2_uc021xaz.1_Missense_Mutation_p.A92T|CADM2_uc021xba.1_Missense_Mutation_p.A92T NM_153184 NP_694854 Q8N3J6 CADM2_HUMAN Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA. 200 Ig-like C2-type 1. adherens junction organization|cell junction assembly integral to membrane|plasma membrane p.A202T(2)|p.A209T(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) TGATGGAGTGGCGGTCATCTG 0.478000 22 16 0 0 1 0 0 KLHL2 11275 broad.mit.edu 37 4 166226792 166226792 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:166226792G>A uc003irb.3 + 8 1213 c.954G>A c.(952-954)aaG>aaA p.K318K KLHL2_uc011cjm.2_Silent_p.K322K|KLHL2_uc003irc.3_Silent_p.K230K|KLHL2_uc010ira.3_Intron NM_007246 NP_001154994 O95198 KLHL2_HUMAN Homo sapiens kelch-like 2, Mayven (Drosophila) (KLHL2), transcript variant 1, mRNA. 318 intracellular protein transport actin cytoskeleton|cytoplasm actin binding|transporter activity endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1) 14 all_hematologic(180;0.221) GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927) AAGCACCAAAGGCTATCCGGA 0.458000 95 42 0 0 1 0 0 USP21 27005 broad.mit.edu 37 1 161133736 161133736 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:161133736G>A uc010pkc.2 + 8 1560 c.1183G>A c.(1183-1185)Gag>Aag p.E395K USP21_uc010pkd.2_Missense_Mutation_p.E395K|USP21_uc021pbv.1_5'Flank|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank NM_001014443 NP_036607 Q9UK80 UBP21_HUMAN Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA. 395 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CACGACCTTCGAGGTTTTTTG 0.572000 44 25 0 0 1 0 0 PRR3 80742 broad.mit.edu 37 6 30525980 30525980 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:30525980C>T uc003nqi.2 + 1 796 c.160C>T c.(160-162)Cct>Tct p.P54S GNL1_uc011dmi.2_5'Flank|GNL1_uc011dmj.2_5'Flank|GNL1_uc011dmk.2_5'Flank|GNL1_uc003nqh.3_5'Flank|PRR3_uc003nqj.2_Intron NM_025263 NP_079539 P79522 PRR3_HUMAN Homo sapiens proline rich 3 (PRR3), transcript variant 1, mRNA. 54 Pro-rich. nucleic acid binding|zinc ion binding lung(1)|ovary(1) 2 ACCTGGCGACCCTAAGTCAGG 0.498000 38 29 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123451887 123451887 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:123451887C>T uc003ego.3 - 10 1654 c.1372G>A c.(1372-1374)Gaa>Aaa p.E458K MYLK_uc011bjw.2_Missense_Mutation_p.E458K|MYLK_uc003egp.3_Intron|MYLK_uc003egq.3_Missense_Mutation_p.E458K|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Missense_Mutation_p.E282K NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 458 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) ATGCTGCCTTCCTGTCTCCTC 0.567000 20 21 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160280027 160280027 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:160280027G>A uc001fvv.4 - 11 1492 c.1098C>T c.(1096-1098)ttC>ttT p.F366F COPA_uc009wti.3_Silent_p.F366F|COPA_uc009wtj.1_Silent_p.F312F NM_001098398 NP_001091868 P53621 COPA_HUMAN Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA. 366 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATGACATATTGAATACTGGAA 0.413000 30 85 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104816663 104816663 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:104816663C>T uc001kwm.3 + 3 2178 c.2015C>T c.(2014-2016)cCc>cTc p.P672L CNNM2_uc001kwn.3_Missense_Mutation_p.P672L NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA. 672 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) AAGAAAGCCCCCGAATACTAC 0.443000 72 25 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152286961 152286961 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:152286961C>T uc001ezu.1 - 2 437 c.401G>A c.(400-402)aGa>aAa p.R134K AK056431_uc001ezv.3_Intron NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 134 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATTCCCTTTTCTATTGTTTCT 0.363000 Ichthyosis 92 26 0 0 1 0 0 RGS10 6001 broad.mit.edu 37 10 121275051 121275051 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:121275051G>A uc001lee.3 - 2 345 c.345C>T c.(343-345)caC>caT p.H115H RGS10_uc001lef.3_Silent_p.H109H|RGS10_uc001leg.3_Silent_p.H123H NM_002925 NP_002916 O43665 RGS10_HUMAN Homo sapiens regulator of G-protein signaling 10 (RGS10), transcript variant 2, mRNA. 115 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity p.H123Q(1) breast(2)|large_intestine(1)|lung(3) 6 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) ACATCAGAGGGTGCGGTTCTT 0.507000 18 14 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140764612 140764612 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140764612C>T uc003lka.2 + 0 2146 c.2146C>T c.(2146-2148)Ctg>Ttg p.L716L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank|PCDHGC5_uc003ljz.1_Silent_p.L716L NM_018920 NP_061743 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA. 708 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.C716*(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGCTCAGGCTGCGGCGCTG 0.622000 31 9 0 0 1 0 0 TEC 7006 broad.mit.edu 37 4 48140986 48140986 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:48140986T>C uc003gxz.3 - 15 1680 c.1589A>G c.(1588-1590)aAg>aGg p.K530R NM_003215 NP_003206 P42680 TEC_HUMAN Homo sapiens tec protein tyrosine kinase (TEC), mRNA. 530 Protein kinase. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 TGGACACCACTTCACAGGAAA 0.453000 30 19 0 0 1 0 0 OR12D3 81797 broad.mit.edu 37 6 29342287 29342287 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:29342287G>A uc003nme.3 - 0 782 c.778C>T c.(778-780)Cgt>Tgt p.R260C NM_030959 NP_112221 Q9UGF7 O12D3_HUMAN Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA. 260 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R260H(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3) 23 GAAGCAGGACGAATATATGTG 0.488000 20 8 0 0 1 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26426749 26426749 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:26426749C>T uc011dkl.1 + 2 734 c.704C>T c.(703-705)cCa>cTa p.P235L BTN2A3P_uc011dkm.2_Non-coding_Transcript Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA. ATTTTTATTCCAGGTTAGTTC 0.522000 42 26 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234077951 234077952 + Splice_Site DNP GG AA AA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:234077951_234077952GG>AA uc010zmo.2 + 13 1622 c.1469_splice c.e13-1 p.G490_splice INPP5D_uc010zmp.2_Splice_Site_p.G489_splice NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 519 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TTCTTTTTAGGGAACAAGGGAG 0.480000 18 3 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58153570 58153570 + Missense_Mutation SNP C G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:58153570C>G uc002iyk.1 - 1 265 c.248G>C c.(247-249)tGc>tCc p.C83S HEATR6_uc010wos.1_5'Flank NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA. 83 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) TACCAGTCGGCAAGCCTGGAC 0.378000 23 18 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145566692 145566692 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:145566692G>A uc001eob.1 + 10 2902 c.2794G>A c.(2794-2796)Gag>Aag p.E932K NM_144698 NP_653299 Q8N283 ANR35_HUMAN Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA. 932 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCAGATCAAGGAGTTGTTGAA 0.478000 28 14 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128384601 128384601 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:128384601G>A uc002top.3 + 30 4242 c.4189G>A c.(4189-4191)Gtg>Atg p.V1397M MYO7B_uc002toq.1_Missense_Mutation_p.V250M|MYO7B_uc002tor.1_Missense_Mutation_p.V250M NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN Homo sapiens myosin VIIB (MYO7B), mRNA. 1397 FERM 1. apical plasma membrane|myosin complex ATP binding|actin binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) AGAGCAGGTGGTGGACGCCGC 0.622000 16 9 0 0 1 0 0 RNF113B 140432 broad.mit.edu 37 13 98829181 98829181 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:98829181C>T uc001vnk.3 - 0 341 c.310G>A c.(310-312)Ggg>Agg p.G104R FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN Homo sapiens ring finger protein 113B (RNF113B), mRNA. 104 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) TCCTCTGGCCCCACAGGCTTC 0.687000 25 11 0 0 1 0 0 BCR 613 broad.mit.edu 37 22 23652513 23652513 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:23652513C>T uc002zww.3 + 17 3671 c.3075C>T c.(3073-3075)atC>atT p.I1025I BCR_uc002zwx.3_Silent_p.I981I|BCR_uc011aiy.2_Silent_p.I614I NM_004327 NP_004318 P11274 BCR_HUMAN Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA. 1025 regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity BCR/JAK2(6) central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 35 TACTGTAGATCGAAGTAAAGC 0.527000 T """ABL1, FGFR1, JAK2 """ """CML, ALL, AML""" 42 12 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49940161 49940161 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:49940161C>T uc003cxy.4 - 0 1146 c.882G>A c.(880-882)cgG>cgA p.R294R MST1R_uc011bdc.2_Silent_p.R294R|MST1R_uc011bdd.2_Silent_p.R294R|MST1R_uc011bde.1_Silent_p.R294R|MST1R_uc011bdf.1_Silent_p.R294R|MST1R_uc011bdg.2_Silent_p.R294R NM_002447 NP_002438 Q04912 RON_HUMAN Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA. 294 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) GGACCAGCTCCCGATAGTCAC 0.652000 68 44 0 0 1 0 0 COL10A1 1300 broad.mit.edu 37 6 116442961 116442961 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:116442961C>T uc003pwm.3 - 2 414 c.318G>A c.(316-318)ggG>ggA p.G106G NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron NM_000493 NP_000484 Q03692 COAA1_HUMAN Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA. 106 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) CACCTGGTTTCCCTACAGCTG 0.602000 17 24 0 0 1 0 0 GLB1 2720 broad.mit.edu 37 3 33055744 33055744 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:33055744G>A uc011axk.1 - 15 1799 c.1682C>T c.(1681-1683)cCa>cTa p.P561L GLB1_uc003cfh.1_Missense_Mutation_p.P483L|GLB1_uc003cfi.1_Missense_Mutation_p.P513L|GLB1_uc003cfj.1_Missense_Mutation_p.P382L NM_001079811 NP_001073279 P16278 BGAL_HUMAN Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA. 513 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) AGTGTCCAGTGGAAAGATCGT 0.562000 26 17 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9771352 9771352 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:9771352G>A uc021wst.1 + 20 1809 c.1638G>A c.(1636-1638)ccG>ccA p.P546P CPNE9_uc003bsd.3_Silent_p.P545P|BRPF1_uc003bse.3_5'Flank|BRPF1_uc003bsf.3_5'Flank|BRPF1_uc003bsg.3_5'Flank|BRPF1_uc011ati.2_5'Flank NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN Homo sapiens copine family member IX (CPNE9), mRNA. 546 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) ACCCCAGCCCGATCCCAGCTC 0.617000 19 13 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584171 82584171 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:82584171G>A uc003uhx.2 - 4 6387 c.6098C>T c.(6097-6099)tCt>tTt p.S2033F PCLO_uc003uhv.2_Missense_Mutation_p.S2033F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1964 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 GATGATAAAAGAGCTTGAAAC 0.388000 37 43 0 0 1 0 0 SCARA5 286133 broad.mit.edu 37 8 27737091 27737091 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:27737091C>T uc003xgj.3 - 7 1957 c.1346G>A c.(1345-1347)gGg>gAg p.G449E SCARA5_uc010luz.3_Missense_Mutation_p.G224E NM_173833 NP_776194 Q6ZMJ2 SCAR5_HUMAN Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA. 449 SRCR. 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) CTTACCTTGCCCGAATCGAGC 0.607000 54 21 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31855568 31855568 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:31855568C>T uc003tcm.2 - 14 2244 c.1783G>A c.(1783-1785)Gag>Aag p.E595K PDE1C_uc003tcn.1_Missense_Mutation_p.E595K|PDE1C_uc003tco.2_Missense_Mutation_p.E655K|PDE1C_uc003tcr.3_Missense_Mutation_p.E595K|PDE1C_uc003tcs.3_Missense_Mutation_p.E595K NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 595 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.E595K(6)|p.A594A(1)|p.E655K(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) GATGACTTCTCGGCTTTGGAG 0.443000 119 150 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100731662 100731662 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:100731662G>A uc003uxq.3 + 2 1300 c.1069G>A c.(1069-1071)Ggg>Agg p.G357R TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.G357R NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN Homo sapiens tripartite motif containing 56 (TRIM56), mRNA. 357 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding p.P356S(1)|p.P356H(1) breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) GCTCCATCCTGGGCTCCTGGA 0.667000 26 8 0 0 1 0 0 EMR3 84658 broad.mit.edu 37 19 14749142 14749142 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:14749142G>A uc002mzi.4 - 10 1407 c.1259C>T c.(1258-1260)tCc>tTc p.S420F EMR3_uc010dzp.3_Missense_Mutation_p.S368F|EMR3_uc010xnv.2_Missense_Mutation_p.S294F NM_032571 NP_115960 Q9BY15 EMR3_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA. 420 neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 GGCGATGATGGAGCACAGCAC 0.587000 25 16 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10091094 10091094 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:10091094G>A uc003buw.3 + 16 1528 c.1450G>A c.(1450-1452)Ggg>Agg p.G484R FANCD2_uc003bux.1_Missense_Mutation_p.G484R|FANCD2_uc003buy.1_Missense_Mutation_p.G484R|FANCD2_uc010hcw.1_Non-coding_Transcript NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA. 484 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TATCTGCAGTGGGAATGAAGC 0.418000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 215 15 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46264123 46264123 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:46264123C>T uc011bzc.1 - 7 1126 c.714G>A c.(712-714)atG>atA p.M238I GABRA2_uc003gxc.3_Missense_Mutation_p.M293I|GABRA2_uc010igc.2_Missense_Mutation_p.M293I|GABRA2_uc003gxe.3_Missense_Mutation_p.M293I P47869 GBRA2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA. 293 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTAGAGTTGTCATTGTTAGGA 0.423000 24 13 0 0 1 0 0 PATZ1 23598 broad.mit.edu 37 22 31722980 31722980 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:31722980G>A uc003akq.3 - 4 2622 c.1961C>T c.(1960-1962)tCt>tTt p.S654F PATZ1_uc003akp.3_3'UTR|PATZ1_uc003akr.3_Missense_Mutation_p.S608F NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA. 654 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 CTCGAGGAGAGACATGTTCTG 0.567000 47 29 0 0 1 0 0 PRR22 163154 broad.mit.edu 37 19 5783075 5783075 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:5783075G>A uc010xiv.1 - 2 1288 c.1183C>T c.(1183-1185)Ccg>Tcg p.P395S PRR22_uc002mdb.1_Missense_Mutation_p.P393S NM_001134316 NP_001127788 Q8IZ63 PRR22_HUMAN Homo sapiens proline rich 22 (PRR22), mRNA. 393 endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1) 5 TTCCTTCCCGGCTTTCCCTTC 0.697000 24 20 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 2787337 2787337 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:2787337C>T uc003bpc.3 + 5 653 c.314C>T c.(313-315)tCg>tTg p.S105L CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.S105L|CNTN4_uc003bpd.1_Missense_Mutation_p.S105L NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 105 Ig-like C2-type 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GCGACAAACTCGTTTGGAACA 0.408000 36 28 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117279656 117279656 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:117279656C>T uc001prc.3 + 28 3807 c.3660C>T c.(3658-3660)acC>acT p.T1220T CEP164_uc001prb.3_Silent_p.T1223T|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Silent_p.T653T NM_014956 NP_055771 Q9UPV0 CE164_HUMAN Homo sapiens centrosomal protein 164kDa (CEP164), mRNA. 1220 DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AGGCAGTAACCTTCGACCTCA 0.567000 38 29 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135477634 135477634 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:135477634C>T uc004ezu.1 + 18 8457 c.8166C>T c.(8164-8166)acC>acT p.T2722T GPR112_uc010nsb.1_Silent_p.T2517T NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2722 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) ACCACCTCACCCATTTTGGAG 0.388000 3 13 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196197465 196197465 + Splice_Site SNP T A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:196197465T>A uc001gtd.1 - 28 3357 c.3297_splice c.e28-1 p.V1099_splice KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.V1032_splice|KCNT2_uc001gtf.1_Splice_Site_p.V1075_splice|KCNT2_uc001gtg.1_Splice_Site NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 1099 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GAATTAAGTATCTAATAAAAG 0.358000 22 10 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18618377 18618377 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:18618377C>T uc001bau.2 + 2 584 c.201C>T c.(199-201)acC>acT p.T67T NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 67 Ig-like 1. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) ATGGTGGCACCATCAAGCAAA 0.557000 96 38 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55107116 55107116 + Missense_Mutation SNP A T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:55107116A>T uc002qgh.1 + 5 856 c.674A>T c.(673-675)aAg>aTg p.K225M LILRA1_uc010yfg.1_Missense_Mutation_p.K223M|LILRA1_uc010yfh.2_Missense_Mutation_p.K225M NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 225 cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GTTTCTAAGAAGCCATCACTC 0.562000 64 29 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63417186 63417186 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:63417186C>T uc001xfx.3 - 6 1085 c.1034G>A c.(1033-1035)gGa>gAa p.G345E KCNH5_uc001xfy.3_Missense_Mutation_p.G345E|KCNH5_uc001xfz.1_Missense_Mutation_p.G287E|KCNH5_uc001xga.3_Missense_Mutation_p.G287E NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 345 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GACTGCTGCTCCATATTCTAG 0.507000 15 23 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999391 72999391 + Missense_Mutation SNP A T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:72999391A>T uc002lly.3 + 1 2457 c.1894A>T c.(1894-1896)Aat>Tat p.N632Y TSHZ1_uc021uln.1_Missense_Mutation_p.N632Y NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA. 677 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AGCAAAAGAGAATAAAGATTT 0.567000 39 16 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541150 133541150 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:133541150C>T uc002ttp.3 - 13 3608 c.3234G>A c.(3232-3234)atG>atA p.M1078I NCKAP5_uc002ttq.3_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1078 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGGAGGACGTCATTTCCAGTG 0.507000 168 76 0 0 1 0 0 CHST11 50515 broad.mit.edu 37 12 104851282 104851282 + Missense_Mutation SNP C G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:104851282C>G uc001tkz.3 + 0 591 c.93C>G c.(91-93)ttC>ttG p.F31L CHST11_uc001tky.3_Missense_Mutation_p.F31L NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA. 31 chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1) 18 TGGTCATCTTCTATTTCCAAA 0.512000 66 30 0 0 1 0 0 SZT2 23334 broad.mit.edu 37 1 43896198 43896198 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:43896198G>A uc001cjk.2 + 30 4425 c.1815G>A c.(1813-1815)gaG>gaA p.E605E NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 1504 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TGGTCACTGAGAGTGACCCAG 0.557000 75 22 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245848736 245848736 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:245848736C>T uc001ibf.1 + 11 2891 c.2451C>T c.(2449-2451)agC>agT p.S817S KIF26B_uc001ibg.1_Silent_p.S435S|KIF26B_uc001ibh.1_Silent_p.S59S NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN Homo sapiens kinesin family member 26B (KIF26B), mRNA. 817 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCGGGGAGAGCTCCTGCGAAG 0.657000 4 20 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48285864 48285864 + Missense_Mutation SNP T G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:48285864T>G uc010rht.2 + 0 452 c.452T>G c.(451-453)cTg>cGg p.L151R NM_001004726 NP_001004726 Q8NH49 OR4X1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA. 151 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GGCGGGGGCCTGCTGCATTCT 0.557000 32 15 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 10973601 10973601 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:10973601C>T uc003jfa.1 - 21 3787 c.3642G>A c.(3640-3642)acG>acA p.T1214T CTNND2_uc010itt.2_Silent_p.T1123T|CTNND2_uc011cmy.1_Silent_p.T877T|CTNND2_uc011cmz.1_Silent_p.T781T|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.T806T NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 1214 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.T1214K(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 GGTAGTGGCTCGTTTCATAGT 0.577000 35 17 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118364911 118364911 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:118364911C>T uc001lco.1 + 11 1204 c.1186C>T c.(1186-1188)Cca>Tca p.P396S PNLIPRP1_uc001lcp.2_Missense_Mutation_p.P396S NM_006229 NP_006220 P54315 LIPR1_HUMAN Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA. 396 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) GATTCTCAAACCAGGCTCAAC 0.393000 63 19 0 0 1 0 0 RAP2A 5911 broad.mit.edu 37 13 98116528 98116528 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:98116528C>T uc001vnd.3 + 1 634 c.384C>T c.(382-384)tcC>tcT p.S128S NM_021033 NP_066361 P10114 RAP2A_HUMAN Homo sapiens RAP2A, member of RAS oncogene family (RAP2A), mRNA. 128 Rap protein signal transduction|actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|regulation of JNK cascade|regulation of dendrite morphogenesis recycling endosome membrane GTP binding|GTPase activity|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.166) AAGTATCGTCCAGCGAAGGCA 0.453000 34 31 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141665646 141665646 + Splice_Site SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:141665646C>T uc002tvj.1 - 22 4292 c.3320_splice c.e22-1 p.G1107_splice LRP1B_uc010fnl.1_Splice_Site_p.G289_splice NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1107 LDL-receptor class A 9. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GATGCATCTCCCTTAAGAAAA 0.398000 TSP Lung(27;0.18) 30 14 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51890237 51890237 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:51890237G>A uc003pah.1 - 31 4647 c.4371C>T c.(4369-4371)ttC>ttT p.F1457F PKHD1_uc003pai.3_Silent_p.F1457F NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1457 IPT/TIG 9. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CGTTCAGGGAGAAGGAAGCTC 0.527000 10 19 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13418659 13418659 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:13418659G>A uc002mwy.3 - 14 2159 c.1923C>T c.(1921-1923)ttC>ttT p.F641F CACNA1A_uc010dzc.2_Silent_p.F167F|CACNA1A_uc010xnd.2_Silent_p.F641F|CACNA1A_uc021ups.1_Silent_p.F641F|CACNA1A_uc010xne.2_Silent_p.F641F|CACNA1A_uc010dze.2_Silent_p.F641F|CACNA1A_uc021upt.1_Silent_p.F642F NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 642 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCCCTTCATCGAAATTAAACC 0.547000 51 38 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328611 80328611 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:80328611C>T uc003hlu.3 - 0 762 c.744G>A c.(742-744)ctG>ctA p.L248L NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 248 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GCACACCTTCCAGGGCTCCAG 0.448000 73 36 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 176506 176506 + Missense_Mutation SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:176506A>G uc001qhw.2 + 0 458 c.458A>G c.(457-459)aAg>aGg p.K153R NM_001170738 NP_001164209 Q9UPP2 IQEC3_HUMAN Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA. 153 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GACAAGGAGAAGGAGCGTCCC 0.677000 31 10 0 0 1 0 0 AGMAT 79814 broad.mit.edu 37 1 15909809 15909809 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:15909809G>A uc001awv.2 - 1 497 c.354C>T c.(352-354)tcC>tcT p.S118S DNAJC16_uc001awu.3_Intron NM_024758 NP_079034 Q9BSE5 SPEB_HUMAN Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA. 118 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1) 12 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) CAACCATGAGGGACTGGAAGG 0.527000 24 32 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65262076 65262076 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:65262076G>A uc001xht.3 - 10 1674 c.1623C>T c.(1621-1623)atC>atT p.I541I SPTB_uc001xhr.3_Silent_p.I541I|SPTB_uc001xhs.3_Silent_p.I541I|SPTB_uc001xhu.3_Silent_p.I541I NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 541 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) CCATCCAGTCGATGCTGTGCA 0.637000 7 12 0 0 1 0 0 THEM5 284486 broad.mit.edu 37 1 151824739 151824739 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:151824739G>A uc021oyw.1 - 1 452 c.320C>T c.(319-321)tCc>tTc p.S107F NM_182578 NP_872384 Q8N1Q8 THEM5_HUMAN Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA. 107 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTTACCTGAGGAAACTGCCAG 0.552000 56 27 0 0 1 0 0 GPRIN1 114787 broad.mit.edu 37 5 176025273 176025273 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:176025273G>A uc003meo.1 - 1 1738 c.1563C>T c.(1561-1563)ccC>ccT p.P521P GPRIN1_uc021yif.1_Silent_p.P521P NM_052899 NP_443131 Q7Z2K8 GRIN1_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA. 521 growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGAGGACAGGGGATCTCCTT 0.652000 34 26 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091577 9091577 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:9091577C>T uc002mkp.3 - 0 442 c.238G>A c.(238-240)Ggg>Agg p.G80R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 80 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 GACATCACCCCCAAAGACTGG 0.532000 61 30 0 0 1 0 0 PLCD3 113026 broad.mit.edu 37 17 43196356 43196356 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:43196356G>A uc002iib.3 - 4 853 c.739C>T c.(739-741)Ctg>Ttg p.L247L NM_133373 NP_588614 Q8N3E9 PLCD3_HUMAN Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA. 247 EF-hand 2. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) AGCCGCCGCAGGAACTCCTCG 0.627000 11 8 0 0 1 0 0 CHMP4C 92421 broad.mit.edu 37 8 82644926 82644926 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:82644926C>T uc003ycl.3 + 0 239 c.65C>T c.(64-66)cCc>cTc p.P22L NM_152284 NP_689497 Q96CF2 CHM4C_HUMAN Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA. 22 Intramolecular interaction with C- terminus (By similarity). cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding p.P22S(1) NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1) 10 GCTCCCAGTCCCCAGGAGGCC 0.592000 6 7 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13753350 13753350 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:13753350C>T uc003jfd.2 - 62 10906 c.10864G>A c.(10864-10866)Gaa>Aaa p.E3622K DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3622 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACCTGGAGTTCATTTCGGCTT 0.333000 Kartagener syndrome 27 4 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56620779 56620779 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:56620779G>A uc002iwq.2 - 0 955 c.769C>T c.(769-771)Cct>Tct p.P257S SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA. 257 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGTTTTGAAGGAATTGGACCG 0.473000 64 56 0 0 1 0 0 FNDC9 408263 broad.mit.edu 37 5 156770005 156770005 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:156770005C>T uc003lwu.2 - 1 728 c.540G>A c.(538-540)ctG>ctA p.L180L CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Silent_p.L180L NM_001001343 NP_001001343 Q8TBE3 FNDC9_HUMAN Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA. 180 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 GCATTTCCACCAGGGGGAGCC 0.627000 OREG0016977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 86 19 0 0 1 0 0 ZBP1 81030 broad.mit.edu 37 20 56179783 56179783 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr20:56179783C>T uc002xyo.3 - 7 1417 c.1136G>A c.(1135-1137)cGa>cAa p.R379Q ZBP1_uc010gjm.3_Missense_Mutation_p.R378Q|ZBP1_uc002xyp.3_Missense_Mutation_p.R304Q NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA. 379 cytoplasm|nucleus RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding p.P378S(1) large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) ACCAATGTCTCGAGGAAAGTG 0.552000 76 39 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 182343 182343 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:182343G>A uc003jak.2 + 17 3771 c.3721G>A c.(3721-3723)Gaa>Aaa p.E1241K NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA. 1241 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CTGCGTCGAGGAAGATGAGCC 0.657000 29 13 0 0 1 0 0 SPATA18 132671 broad.mit.edu 37 4 52927009 52927009 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:52927009C>T uc003gzl.3 + 2 533 c.255C>T c.(253-255)tcC>tcT p.S85S SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Silent_p.S85S|SPATA18_uc003gzk.1_Silent_p.S85S NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA. 85 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) TGGAGGCTTCCTTTACTGCTG 0.478000 41 14 0 0 1 0 0 NMNAT3 349565 broad.mit.edu 37 3 139297773 139297773 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:139297773G>A uc003etj.3 - 1 274 c.234C>T c.(232-234)atC>atT p.I78I NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.I41I|NMNAT3_uc003etl.3_Non-coding_Transcript NM_178177 NP_835471 Q96T66 NMNA3_HUMAN Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA. 78 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity p.I41I(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(4) 9 GGTCCACCCGGATCCAGTCGG 0.587000 33 9 0 0 1 0 0 CYP21A2 1589 broad.mit.edu 37 6 32007175 32007175 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:32007175G>A uc003nze.2 + 3 597 c.490G>A c.(490-492)Gaa>Aaa p.E164K CYP21A2_uc003nzf.2_Missense_Mutation_p.E134K NM_000500 NP_000491 P08686 CP21A_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA. 163 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 CATTGAGGAGGAATTCTCTCT 0.632000 334 89 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122399742 122399742 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:122399742C>T uc003efq.4 + 0 71 c.12C>T c.(10-12)ccC>ccT p.P4P NM_017554 NP_060024 Q460N5 PAR14_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA. 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) TGGCTGTGCCCGGCTCCTTCC 0.632000 7 7 0 0 1 0 0 SPARCL1 8404 broad.mit.edu 37 4 88415124 88415124 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:88415124C>T uc010ikm.3 - 4 1400 c.828G>A c.(826-828)atG>atA p.M276I SPARCL1_uc011cdc.2_Missense_Mutation_p.M151I|SPARCL1_uc003hqs.4_Missense_Mutation_p.M276I|SPARCL1_uc011cdd.2_Missense_Mutation_p.M151I NM_001128310 NP_004675 Q14515 SPRL1_HUMAN Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA. 276 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) TTTCCTCTTCCATTTCTGCAT 0.413000 144 91 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37617576 37617576 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr21:37617576G>A uc002yvg.3 + 18 3377 c.3298G>A c.(3298-3300)Gcc>Acc p.A1100T DOPEY2_uc011aeb.2_Missense_Mutation_p.A1049T|DOPEY2_uc002yvh.3_5'UTR NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 1100 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AGACAGGACGGCCCACGGCGC 0.637000 30 11 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153029987 153029987 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:153029987G>A uc011dcy.2 + 3 615 c.588G>A c.(586-588)cgG>cgA p.R196R GRIA1_uc003lva.4_Silent_p.R186R|GRIA1_uc003luy.4_Silent_p.R186R|GRIA1_uc003luz.4_Silent_p.R91R|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.R106R|GRIA1_uc011dcx.2_Silent_p.R117R|GRIA1_uc011dcz.2_Silent_p.R196R|GRIA1_uc010jia.1_Silent_p.R166R NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 186 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGGGATACCGGATGCTCTTTC 0.517000 33 29 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48387816 48387816 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:48387816G>A uc001rqu.3 - 12 1012 c.831C>T c.(829-831)ttC>ttT p.F277F COL2A1_uc001rqv.3_Silent_p.F208F NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 277 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GGGTTCCTGGGAAACCACGAG 0.542000 147 59 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45895485 45895485 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:45895485G>A uc002pbn.3 - 7 1545 c.1468C>T c.(1468-1470)Ccc>Tcc p.P490S PPP1R13L_uc002pbm.3_Missense_Mutation_p.P69S|PPP1R13L_uc002pbo.3_Missense_Mutation_p.P490S NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA. 490 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) AGCCTCGTGGGGCTGAGAGGC 0.672000 22 12 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685242 125685242 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:125685242G>A uc022cds.1 - 0 1350 c.1350C>T c.(1348-1350)ctC>ctT p.L450L DCAF12L1_uc004eul.3_Silent_p.L450L NM_178470 NP_848565 Q5VU92 DC121_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA. 450 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 GGCCTGCAGGGAGAGGCCCCC 0.557000 7 34 0 0 1 0 0 TAS1R1 80835 broad.mit.edu 37 1 6635452 6635453 + Splice_Site DNP GG AA AA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:6635452_6635453GG>AA uc001ant.3 + 3 1356 c.1260_splice c.e3+1 p.Q420_splice TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Splice_Site_p.Q342_splice NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA. 420 sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2) 29 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) ACCCCTGGCAGGTAAGAGAGCC 0.609000 43 6 0 0 1 0 0 MAGEA11 4110 broad.mit.edu 37 X 148798422 148798422 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:148798422G>A uc004fdq.3 + 4 1431 c.1276G>A c.(1276-1278)Gga>Aga p.G426R MAGEA11_uc004fdr.3_Missense_Mutation_p.G397R NM_005366 NP_005357 P43364 MAGAB_HUMAN Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA. 426 cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GAGAGAGGAGGGAGAGGGAGT 0.537000 10 25 0 0 1 0 0 IQCF3 401067 broad.mit.edu 37 3 51864773 51864773 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:51864773C>T uc021wyy.1 + 6 1209 c.421C>T c.(421-423)Cct>Tct p.P141S IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.P141S NM_001085479 NP_001193952 P0C7M6 IQCF3_HUMAN Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA. 141 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) ATATGCAATCCCTTCAAAGCA 0.483000 36 23 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20944554 20944554 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:20944554G>A uc010vbe.2 - 61 12273 c.12273C>T c.(12271-12273)tcC>tcT p.S4091S DNAH3_uc010vbd.2_Silent_p.S1526S NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 4091 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GAAGCTCAATGGAGAGGACAT 0.512000 93 57 0 0 1 0 0 SIGIRR 59307 broad.mit.edu 37 11 407816 407816 + Splice_Site SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:407816C>T uc001lpg.3 - 4 634 c.481_splice c.e4+1 p.D161_splice SIGIRR_uc001lpd.2_Splice_Site_p.D161_splice|SIGIRR_uc001lpf.2_Splice_Site_p.D161_splice|SIGIRR_uc001lpe.1_Splice_Site_p.D161_splice Q6IA17 SIGIR_HUMAN Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA. 161 acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 13 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCCCACGCACCGTTTATCTC 0.687000 45 24 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160758022 160758022 + Silent SNP G A A rs79319310 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:160758022G>A uc003lys.1 - 8 1163 c.945C>T c.(943-945)ttC>ttT p.F315F GABRB2_uc011deh.1_Silent_p.F154F|GABRB2_uc003lyr.1_Silent_p.F315F|GABRB2_uc003lyt.1_Silent_p.F315F|GABRB2_uc021yhg.1_Silent_p.F252F NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 315 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CCATGAAAACGAAGACAAAGC 0.512000 47 28 0 0 1 0 0 SLC5A6 8884 broad.mit.edu 37 2 27424861 27424861 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:27424861G>A uc010eyv.1 - 13 1679 c.1357C>T c.(1357-1359)Cct>Tct p.P453S SLC5A6_uc002rjd.3_Missense_Mutation_p.P453S NM_021095 NP_066918 Q9Y289 SC5A6_HUMAN Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA. 453 biotin metabolic process|pantothenate metabolic process integral to plasma membrane|membrane fraction sodium-dependent multivitamin transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Biotin(DB00121)|Lipoic Acid(DB00166) CTCACAGGAGGGTTAGCACAT 0.572000 35 27 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152394723 152394723 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:152394723C>T uc021vrb.1 - 109 15854 c.15825G>A c.(15823-15825)ggG>ggA p.G5275G NEB_uc002txr.3_Silent_p.G1741G|NEB_uc002txu.3_Silent_p.G6976G|NEB_uc021vrc.1_Silent_p.G6976G|NEB_uc010fnx.3_Silent_p.G5263G|NEB_uc021vrd.1_Silent_p.G5275G NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 5275 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TGTGGTATTTCCCTTTGGTCT 0.343000 120 53 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13340994 13340994 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:13340994C>T uc002mwy.3 - 35 5666 c.5430G>A c.(5428-5430)atG>atA p.M1810I CACNA1A_uc002mwx.3_Missense_Mutation_p.M516I|CACNA1A_uc010dzc.2_Missense_Mutation_p.M1336I|CACNA1A_uc010xnd.2_Missense_Mutation_p.M1813I|CACNA1A_uc021ups.1_Missense_Mutation_p.M1810I|CACNA1A_uc010xne.2_Missense_Mutation_p.M1813I|CACNA1A_uc010dze.2_Missense_Mutation_p.M1810I|CACNA1A_uc021upt.1_Missense_Mutation_p.M1811I|CACNA1A_uc002mwv.3_Missense_Mutation_p.M327I NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 1811 I -> L (in FHM1; dbSNP:rs121908214). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CAAAGTTGTCCATGATGACGG 0.582000 27 6 0 0 1 0 0 AKR7A3 22977 broad.mit.edu 37 1 19609267 19609268 + Missense_Mutation DNP GG AA AA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:19609267_19609268GG>AA uc001bbv.1 - 6 1030_1031 c.953_954CC>TT c.(952-954)gcc>gTT p.A318V NM_012067 NP_036199 O95154 ARK73_HUMAN Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA. 318 cellular aldehyde metabolic process cytosol aldo-keto reductase (NADP) activity|electron carrier activity NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2) 13 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCAAATGCCAGGCTTGATTAAA 0.554000 41 18 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100738 168100738 + Missense_Mutation SNP A C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:168100738A>C uc002udx.3 + 8 2925 c.2836A>C c.(2836-2838)Aag>Cag p.K946Q XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K771Q|XIRP2_uc010fpq.3_Missense_Mutation_p.K724Q|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 771 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGAGATGTGAAGAATTACAC 0.333000 12 12 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858299 9858299 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:9858299C>T uc010uym.2 - 13 3412 c.3102G>A c.(3100-3102)agG>agA p.R1034R GRIN2A_uc002czo.4_Silent_p.R1034R|GRIN2A_uc010uyn.2_Silent_p.R877R|GRIN2A_uc002czr.4_Silent_p.R1034R NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1034 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TTGCCTCATCCCTCTGGGAGA 0.517000 121 62 0 0 1 0 0 NIPAL1 152519 broad.mit.edu 37 4 48036995 48036995 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:48036995C>T uc003gxw.3 + 4 625 c.559C>T c.(559-561)Cat>Tat p.H187Y NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA. 187 integral to membrane endometrium(2)|large_intestine(1)|lung(3)|skin(2) 8 GATGGTTATCCATGCCCCACA 0.393000 33 11 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179443395 179443395 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:179443395C>T uc021vsy.1 - 269 60793 c.60568G>A c.(60568-60570)Gat>Aat p.D20190N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D13885N|TTN_uc021vta.1_Missense_Mutation_p.D13818N|TTN_uc021vtb.1_Missense_Mutation_p.D13693N|AX746670_uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21117 Fibronectin type-III 46. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GATACTGAATCGTGTCTGACA 0.398000 23 10 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179549675 179549675 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:179549675G>A uc021vsy.1 - 126 29005 c.28780C>T c.(28780-28782)Cct>Tct p.P9594S TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6255S|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10521 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) ACTGGAGCAGGAACTTTCTTT 0.338000 16 5 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952719 119952719 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:119952719C>T uc010inb.3 + 3 2985 c.2789C>T c.(2788-2790)tCg>tTg p.S930L SYNPO2_uc010ina.3_Missense_Mutation_p.S930L|SYNPO2_uc003icm.4_Missense_Mutation_p.S930L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.S858L|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 930 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CCTATCCACTCGCCGTCTTAC 0.542000 37 18 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764785 92764785 + Missense_Mutation SNP G T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:92764785G>T uc003umh.1 - 4 1716 c.500C>A c.(499-501)cCt>cAt p.P167H SAMD9L_uc003umj.1_Missense_Mutation_p.P167H|SAMD9L_uc003umi.1_Missense_Mutation_p.P167H|SAMD9L_uc010lfb.1_Missense_Mutation_p.P167H|SAMD9L_uc003umk.1_Missense_Mutation_p.P167H|SAMD9L_uc010lfc.1_Missense_Mutation_p.P167H|SAMD9L_uc010lfd.1_Missense_Mutation_p.P167H|SAMD9L_uc022ahh.1_Missense_Mutation_p.P167H NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 167 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CTGATCAAAAGGATATGGCAT 0.353000 58 91 5.84261e-33 5.95252e-33 1 1 0 XKR3 150165 broad.mit.edu 37 22 17288658 17288658 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:17288658C>T uc002zlv.3 - 1 404 c.306G>A c.(304-306)tgG>tgA p.W102* XKR3_uc011agf.2_Nonsense_Mutation_p.W102* NM_175878 NP_787074 Q5GH77 XKR3_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA. 102 integral to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) GAAGAATGTGCCAAAAAAGTA 0.338000 32 15 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 103814348 103814348 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:103814348C>T uc001phq.3 - 4 976 c.604G>A c.(604-606)Gat>Aat p.D202N PDGFD_uc001php.3_Missense_Mutation_p.D196N NM_025208 NP_079484 Q9GZP0 PDGFD_HUMAN Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA. 202 D -> Y (in a colorectal cancer sample; somatic mutation). positive regulation of cell division Golgi membrane|endoplasmic reticulum lumen|extracellular region growth factor activity p.D202Y(2)|p.T201T(1)|p.T201M(1) biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) AGAGTGGGATCCGTTACTGAT 0.418000 16 7 0 0 1 0 0 ZNF230 7773 broad.mit.edu 37 19 44515002 44515002 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:44515002C>T uc002oyb.1 + 4 1062 c.811C>T c.(811-813)Cag>Tag p.Q271* NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN Homo sapiens zinc finger protein 230 (ZNF230), mRNA. 271 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) TCAGAAACATCAGATAATTCA 0.418000 42 24 0 0 1 0 0 INHBA 3624 broad.mit.edu 37 7 41729272 41729272 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:41729272G>A uc003thq.3 - 1 1492 c.1257C>T c.(1255-1257)atC>atT p.I419I INHBA_uc003thr.3_Silent_p.I419I NM_002192 NP_002183 P08476 INHBA_HUMAN Homo sapiens inhibin, beta A (INHBA), mRNA. 419 G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity p.I419I(2) biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 ACTCCTCCACGATCATGTTCT 0.468000 TSP Lung(11;0.080) 44 47 0 0 1 0 0 FLT3 2322 broad.mit.edu 37 13 28608542 28608542 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:28608542G>A uc001urw.3 - 12 1682 c.1600C>T c.(1600-1602)Ccc>Tcc p.P534S FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.P534S NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 534 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AAAGGGAAGGGGCCTGCAACA 0.393000 """Mis, O""" """AML, ALL""" 20 6 0 0 1 0 0 OR2S2 56656 broad.mit.edu 37 9 35957626 35957626 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:35957626G>A uc011lpi.2 - 0 526 c.470C>T c.(469-471)tCc>tTc p.S157F NM_019897 NP_063950 Q9NQN1 OR2S1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA. 157 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) GTGTACCACGGAAGCAGCACC 0.532000 65 34 0 0 1 0 0 RBM6 10180 broad.mit.edu 37 3 50112638 50112638 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:50112638C>T uc003cyc.3 + 19 3369 c.3121C>T c.(3121-3123)Cgt>Tgt p.R1041C RBM6_uc003cyd.3_Missense_Mutation_p.R519C|RBM6_uc011bdi.2_Missense_Mutation_p.R383C|RBM6_uc003cye.3_Missense_Mutation_p.R519C|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron NM_005777 NP_001161054 P78332 RBM6_HUMAN Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA. 1041 RNA processing nucleus DNA binding|RNA binding|nucleotide binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) TTGCAGTGATCGTAAACTTGT 0.468000 26 19 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70972585 70972586 + Missense_Mutation DNP GG AA AA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:70972585_70972586GG>AA uc002ezr.3 - 43 7074_7075 c.6923_6924CC>TT c.(6922-6924)gcc>gTT p.A2308V NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 2309 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCTCAGTCAGGGCATCATATTC 0.564000 21 15 0 0 1 0 0 ACSL6 23305 broad.mit.edu 37 5 131305833 131305833 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:131305833C>T uc003kvx.2 - 14 1604 c.1495G>A c.(1495-1497)Gac>Aac p.D499N ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.D464N|ACSL6_uc003kvy.2_Missense_Mutation_p.D499N|ACSL6_uc003kvz.2_Missense_Mutation_p.D399N|ACSL6_uc021ydh.1_Missense_Mutation_p.D399N|ACSL6_uc010jdo.2_Missense_Mutation_p.D474N|ACSL6_uc003kwa.2_Missense_Mutation_p.D485N|ACSL6_uc003kvw.2_Missense_Mutation_p.D120N|ACSL6_uc010jdn.2_Missense_Mutation_p.D489N NM_015256 NP_001192177 Q9UKU0 ACSL6_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA. 474 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity p.D499Y(3) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAGGTCCAGTCGCCAGGAGTG 0.498000 49 36 0 0 1 0 0 MSLN 10232 broad.mit.edu 37 16 816999 816999 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:816999C>T uc002cjw.2 + 13 1623 c.1512C>T c.(1510-1512)atC>atT p.I504I MSLN_uc002cju.1_Silent_p.I496I|MSLN_uc002cjt.1_Silent_p.I496I|MSLN_uc010brd.1_Silent_p.I495I|MSLN_uc002cjy.1_Silent_p.I161I NM_013404 NP_037536 Q13421 MSLN_HUMAN Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA. 504 cell adhesion Golgi apparatus|anchored to membrane|extracellular region|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) TCGTGAAGATCCAGTCCTTCC 0.622000 46 15 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4924977 4924977 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:4924977C>T uc002cyb.3 + 14 2905 c.2566C>T c.(2566-2568)Ccc>Tcc p.P856S UBN1_uc010uxw.2_Missense_Mutation_p.P856S|UBN1_uc002cyc.3_Missense_Mutation_p.P856S NM_001079514 NP_058632 Q9NPG3 UBN1_HUMAN Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA. 856 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 GGGCTTCCATCCCTCTGCACC 0.592000 49 17 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167850831 167850831 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:167850831C>T uc003lzu.3 + 10 1661 c.1568C>T c.(1567-1569)tCc>tTc p.S523F WWC1_uc003lzv.3_Missense_Mutation_p.S523F|WWC1_uc011den.2_Missense_Mutation_p.S523F|WWC1_uc003lzw.3_Missense_Mutation_p.S322F NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA. 523 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GCTCTGCGTTCCCTGTCTGGC 0.652000 19 12 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8656742 8656742 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:8656742G>A uc002mkj.1 - 14 2013 c.1739C>T c.(1738-1740)aCc>aTc p.T580I ADAMTS10_uc002mki.1_Missense_Mutation_p.P71S|ADAMTS10_uc002mkk.1_Missense_Mutation_p.T212I NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 580 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GCCCCCGATGGTTGGCCTGGA 0.667000 41 25 0 0 1 0 0 CCR5 1234 broad.mit.edu 37 3 46414753 46414753 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:46414753C>T uc003cpo.4 + 2 482 c.360C>T c.(358-360)atC>atT p.I120I CCR5_uc010hjd.3_Silent_p.I120I|CCR5_uc021wxb.1_Silent_p.I120I NM_001100168 NP_001093638 P51681 CCR5_HUMAN Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA. 120 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) TCTTCATCATCCTCCTGACAA 0.483000 165 71 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400378 89400378 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:89400378G>A uc010upo.1 + 11 4936 c.4562G>A c.(4561-4563)gGa>gAa p.G1521E ACAN_uc010upp.1_Missense_Mutation_p.G1521E|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1521 cell adhesion hyaluronic acid binding|sugar binding p.G1521E(1) NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TCTGCTTCTGGAGTAGAGGAC 0.512000 28 20 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52860732 52860732 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:52860732G>A uc003gzi.3 - 3 2463 c.2456C>T c.(2455-2457)cCg>cTg p.P819L NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA. 819 integral to membrane p.P819P(1) central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GAACATGCCCGGAAACTCATC 0.463000 34 19 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119109456 119109456 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:119109456C>T uc004bjn.3 + 14 4313 c.3932C>T c.(3931-3933)tCc>tTc p.S1311F PAPPA_uc011lxq.2_Missense_Mutation_p.S686F NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 1311 Sushi 2. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 AGTCAATGTTCCTTCCAGTGC 0.552000 33 21 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35675514 35675514 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr20:35675514G>A uc002xgi.3 - 11 1626 c.1547C>T c.(1546-1548)cCt>cTt p.P516L RBL1_uc002xgj.1_Missense_Mutation_p.P516L NM_002895 NP_002886 P28749 RBL1_HUMAN Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA. 516 Domain A.|Pocket; binds T and E1A. cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) AAAAGTACGAGGTGAGCTATA 0.373000 29 10 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121298143 121298143 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:121298143G>A uc003yox.3 + 32 4276 c.4011G>A c.(4009-4011)ggG>ggA p.G1337G COL14A1_uc003yoz.3_Silent_p.G302G NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 1337 Nonhelical region (NC4).|TSP N-terminal. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) ACCAGAGTGGGGATTTTCAAA 0.279000 34 27 0 0 1 0 0 CEACAM20 125931 broad.mit.edu 37 19 45024659 45024659 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:45024659G>A uc010ejn.1 - 4 895 c.879C>T c.(877-879)ccC>ccT p.P293P CEACAM20_uc010ejo.1_Silent_p.P293P|CEACAM20_uc010ejp.1_Silent_p.P293P|CEACAM20_uc010ejq.1_Silent_p.P293P NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 293 Ig-like C2-type 3. integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) TGGGCAGGAGGGGCTGGCCAC 0.567000 310 147 0 0 1 0 0 ZNF695 57116 broad.mit.edu 37 1 247150618 247150618 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:247150618C>T uc009xgu.3 - 3 1384 c.1199G>A c.(1198-1200)aGa>aAa p.R400K ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF695_uc009xgt.2_Intron|ZNF695_uc001ibx.3_Intron|ZNF695_uc001iby.3_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA. 400 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) AGTATGAATTCTCTTATGCTG 0.393000 17 31 0 0 1 0 0 CDAN1 146059 broad.mit.edu 37 15 43028124 43028124 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:43028124G>A uc001zql.3 - 2 839 c.722C>T c.(721-723)cCc>cTc p.P241L CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_5'Flank|BC037861_uc001zqm.3_5'Flank NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA. 241 integral to membrane protein binding endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 24 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) GCACCCTGGGGGAAGGCCAAG 0.622000 41 17 0 0 1 0 0 FAM151A 338094 broad.mit.edu 37 1 55080522 55080522 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:55080522C>T uc001cxn.3 - 3 558 c.426G>A c.(424-426)ctG>ctA p.L142L ACOT11_uc001cxm.2_Intron NM_176782 NP_788954 Q8WW52 F151A_HUMAN Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA. 142 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 TCTTGAAGTCCAGTTTGATGC 0.567000 56 18 0 0 1 0 0 SMU1 55234 broad.mit.edu 37 9 33062139 33062139 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:33062139G>A uc003zsf.1 - 4 646 c.538C>T c.(538-540)Cct>Tct p.P180S SMU1_uc011lnu.1_Missense_Mutation_p.P19S NM_018225 NP_060695 Q2TAY7 SMU1_HUMAN Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA. 180 cytoplasm|nucleus endometrium(2)|lung(4)|ovary(2)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(29;0.0227) GBM - Glioblastoma multiforme(74;0.11) GTCATACCAGGAGGAAGCAAT 0.423000 50 22 0 0 1 0 0 ATAD2B 54454 broad.mit.edu 37 2 24021069 24021069 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:24021069G>A uc002rek.4 - 18 2875 c.2579C>T c.(2578-2580)tCa>tTa p.S860L ATAD2B_uc002rei.4_Missense_Mutation_p.S860L|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_Missense_Mutation_p.S28L NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA. 860 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGTGAAAATGATGGTATATC 0.358000 16 8 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130025022 130025022 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:130025022T>C uc003vpx.3 + 7 895 c.823T>C c.(823-825)Tac>Cac p.Y275H CPA1_uc003vpw.2_Missense_Mutation_p.Y109H NM_001868 NP_001859 P15085 CBPA1_HUMAN Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA. 275 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding p.Y275*(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) CTCGGAGACTTACCACGGCAA 0.552000 37 43 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57731085 57731085 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:57731085C>T uc010bfw.3 + 2 1081 c.888C>T c.(886-888)tcC>tcT p.S296S CGNL1_uc002aeg.3_Silent_p.S296S NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 296 Head.|Poly-Ser. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) CCCGGAGGTCCTCCTCGTCAT 0.552000 17 7 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605035 140605035 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140605035C>T uc003ljb.3 + 0 1958 c.1958C>T c.(1957-1959)tCg>tTg p.S653L NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN Homo sapiens protocadherin beta 14 (PCDHB14), mRNA. 653 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTCCTCGCTCGGCCACCGCC 0.721000 56 10 0 0 1 0 0 GABBR2 9568 broad.mit.edu 37 9 101068621 101068621 + Missense_Mutation SNP C G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:101068621C>G uc004ays.3 - 14 2471 c.2011G>C c.(2011-2013)Ggt>Cgt p.G671R NM_005458 NP_005449 O75899 GABR2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA. 671 negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity p.F670F(1) NOTCH1_ENST00000277541/GABBR2(2) breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 49 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) AAGAAACAACCGAACAACTGA 0.527000 15 8 0 0 1 0 0 ZNF25 219749 broad.mit.edu 37 10 38242045 38242045 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:38242045G>A uc001ize.1 - 5 486 c.381C>T c.(379-381)ttC>ttT p.F127F ZNF25_uc001izf.1_Silent_p.F91F NM_145011 NP_659448 P17030 ZNF25_HUMAN Homo sapiens zinc finger protein 25 (ZNF25), mRNA. 127 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) ACTTCTGGCAGAAGAACTTCC 0.408000 62 52 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65490813 65490813 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:65490813G>A uc002aon.2 - 8 1992 c.1811C>T c.(1810-1812)cCa>cTa p.P604L NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 604 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 ACTCCTGGATGGAATCTCCAG 0.532000 72 41 0 0 1 0 0 PPP1R14D 54866 broad.mit.edu 37 15 41120753 41120753 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:41120753C>T uc001zmz.3 - 0 155 c.87G>A c.(85-87)agG>agA p.R29R PPP1R14D_uc001zmy.3_Silent_p.R29R NM_001130143 NP_001123615 Q9NXH3 PP14D_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14D (PPP1R14D), transcript variant 2, mRNA. 29 regulation of phosphorylation cytoplasm protein phosphatase inhibitor activity breast(1)|large_intestine(2)|lung(2)|skin(1) 6 all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166) ATGTCCTTCTCCTCCCAGAAG 0.567000 47 12 0 0 1 0 0 RAVER1 125950 broad.mit.edu 37 19 10429025 10429025 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:10429025G>A uc002moa.3 - 10 2000 c.1920C>T c.(1918-1920)ttC>ttT p.F640F FDX1L_uc002mnx.1_5'Flank|FDX1L_uc002mny.1_5'Flank|RAVER1_uc021uou.1_5'Flank|RAVER1_uc002mnz.3_Silent_p.F8F NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA. 469 cytoplasm|nucleus RNA binding|nucleotide binding|protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) TCCGTTCGCCGAAGCCACTGG 0.612000 12 4 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152383145 152383145 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:152383145C>T uc001ezx.2 - 2 487 c.413G>A c.(412-414)aGa>aAa p.R138K NM_016190 NP_057274 Q9UBG3 CRNN_HUMAN Homo sapiens cornulin (CRNN), mRNA. 138 cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGCTCTGTCTGTGGCTGCT 0.632000 58 148 0 0 1 0 0 SSBP3 23648 broad.mit.edu 37 1 54706582 54706582 + Silent SNP G A A rs142992203 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:54706582G>A uc001cxe.3 - 12 1263 c.852C>T c.(850-852)ccC>ccT p.P284P SSBP3_uc001cxf.3_Silent_p.P264P|SSBP3_uc001cxg.3_Silent_p.P257P NM_145716 NP_663768 Q9BWW4 SSBP3_HUMAN Homo sapiens single stranded DNA binding protein 3 (SSBP3), transcript variant 1, mRNA. 284 Gly-rich.|Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus single-stranded DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 11 TCTTACCTGCGGGACTGGGCA 0.592000 118 42 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145158836 145158836 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:145158836G>A uc002tvu.3 - 6 1368 c.846C>T c.(844-846)ttC>ttT p.F282F ZEB2_uc010zbm.2_Silent_p.F258F|ZEB2_uc002tvv.3_Silent_p.F276F|ZEB2_uc010fnp.3_Silent_p.F190F|ZEB2_uc010fnq.1_Silent_p.F311F NM_014795 NP_055610 O60315 ZEB2_HUMAN Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA. 282 cytoplasm|nucleolus SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) CTGTGCATTTGAACTTGCGAT 0.433000 72 47 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21101806 21101806 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:21101806G>A uc001iqi.3 - 23 2807 c.2410C>T c.(2410-2412)Cct>Tct p.P804S NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Missense_Mutation_p.P141S|NEBL_uc021pnu.1_Missense_Mutation_p.P141S NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 804 regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TCTGTCACAGGATCGTCCACG 0.468000 27 24 0 0 1 0 0 CDK15 65061 broad.mit.edu 37 2 202687611 202687611 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:202687611C>T uc002uyt.2 + 4 577 c.528C>T c.(526-528)ttC>ttT p.F176F CDK15_uc010ftm.3_Silent_p.F41F|CDK15_uc002uys.2_Silent_p.F125F|CDK15_uc010ftn.1_Silent_p.F125F|CDK15_uc010fto.1_Silent_p.F176F NM_139158 NP_631897 Q96Q40 CDK15_HUMAN Homo sapiens cyclin-dependent kinase 15 (CDK15), mRNA. 176 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) CACTGACATTCGTTTTTGAAT 0.343000 66 45 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17599902 17599902 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:17599902G>A uc001bai.3 + 9 1155 c.1115G>A c.(1114-1116)aGg>aAg p.R372K NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 372 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GACTCCCCAAGGAATGGGGAA 0.612000 30 29 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054583 67054583 + Missense_Mutation SNP C T T rs149863845 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:67054583C>T uc003dmy.3 + 2 1245 c.1192C>T c.(1192-1194)Cgt>Tgt p.R398C KBTBD8_uc011bfv.2_Intron NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA. 398 breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) AATCGGAGGTCGTGTTTATGA 0.443000 78 34 0 0 1 0 0 PDPR 55066 broad.mit.edu 37 16 70166106 70166106 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:70166106C>T uc002eyf.1 + 8 1857 c.900C>T c.(898-900)atC>atT p.I300I CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Silent_p.I200I|PDPR_uc002eyg.1_Silent_p.I28I NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA. 300 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) AGGGTGGCATCCTGTCTGGGG 0.473000 45 15 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151716805 151716805 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:151716805G>A uc003wkp.3 + 8 1521 c.1251G>A c.(1249-1251)agG>agA p.R417R GALNTL5_uc010lqf.3_Silent_p.R306R|GALNTL5_uc003wkq.3_Silent_p.R168R|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA. 417 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TTGAGTTAAGGAAACGACTGG 0.413000 30 43 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40405948 40405948 + Missense_Mutation SNP G C C rs139504445 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:40405948G>C uc002omp.4 - 9 4906 c.4898C>G c.(4897-4899)tCc>tGc p.S1633C NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1633 Cys-rich. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GATGCCTCCGGAGGGCTGGCA 0.632000 37 3 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142269040 142269040 + Missense_Mutation SNP C G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:142269040C>G uc003eux.4 - 13 3032 c.2910G>C c.(2908-2910)atG>atC p.M970I NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 970 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|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 TATTTAAAGCCATTTCTCTCT 0.418000 Other conserved DNA damage response genes 29 23 0 0 1 0 0 TIPARP 25976 broad.mit.edu 37 3 156395964 156395964 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:156395964C>T uc003fav.3 + 1 900 c.478C>T c.(478-480)Cag>Tag p.Q160* TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Nonsense_Mutation_p.Q160*|TIPARP_uc021xgg.1_Nonsense_Mutation_p.Q160* NM_015508 NP_056323 Q7Z3E1 PARPT_HUMAN Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA. 160 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding p.Q160Q(1) NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AGCTCACTTCCAGACTGATCT 0.463000 62 33 0 0 1 0 0 AHCYL2 23382 broad.mit.edu 37 7 129064740 129064740 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:129064740C>T uc011kov.2 + 13 1649 c.1586C>T c.(1585-1587)tCc>tTc p.S529F AHCYL2_uc003vot.3_Missense_Mutation_p.S528F|AHCYL2_uc003vov.3_Missense_Mutation_p.S426F|AHCYL2_uc011kox.2_Missense_Mutation_p.S426F NM_015328 NP_056143 Q96HN2 SAHH3_HUMAN Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA. 529 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 CTTAGCTGCTCCACAGTGCCT 0.512000 114 40 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140249718 140249718 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140249718G>A uc003lia.2 + 0 1888 c.1030G>A c.(1030-1032)Gat>Aat p.D344N PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.D344N NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 360 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACACCAACGATAACTCTCC 0.512000 33 11 0 0 1 0 0 ICAM4 3386 broad.mit.edu 37 19 10398497 10398497 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:10398497C>T uc002mnr.2 + 1 649 c.603C>T c.(601-603)acC>acT p.T201T ICAM4_uc002mns.2_Missense_Mutation_p.P227L|ICAM4_uc002mnt.2_Missense_Mutation_p.P227L|ICAM5_uc002mnu.4_5'Flank NM_001039132 NP_001034221 Q14773 ICAM4_HUMAN Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA. 0 Ig-like C2-type 2. cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding breast(1)|large_intestine(3)|lung(2)|pancreas(1) 7 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) AGCTCGGCACCCATTACACTG 0.632000 57 21 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48755144 48755144 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:48755144G>A uc002isl.3 + 23 3498 c.3418G>A c.(3418-3420)Gaa>Aaa p.E1140K ABCC3_uc002isn.3_5'Flank NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 1140 ABC transmembrane type-1 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GAAGCGGCTGGAATCAGTCAG 0.572000 167 90 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56363515 56363515 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:56363515C>T uc002qmd.4 + 1 491 c.69C>T c.(67-69)ttC>ttT p.F23F NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 23 DAPIN. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AGGAGGAGTTCAGGAAATTTA 0.433000 77 45 0 0 1 0 0 NIPAL4 348938 broad.mit.edu 37 5 156899470 156899470 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:156899470G>A uc003lwx.4 + 5 1019 c.903G>A c.(901-903)gtG>gtA p.V301V ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Silent_p.V282V NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA. 301 integral to membrane receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1) 22 CCTTCTCTGTGGCTGCTGTCA 0.557000 OREG0016979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 65 74 0 0 1 0 0 AK057473 0 broad.mit.edu 37 17 20805843 20805843 + RNA SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:20805843C>T uc002gyg.1 + 3 c.1027C>T AK057473_uc002gyh.1_Non-coding_Transcript Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210. TTGCAGATTTCCTGACAAAGT 0.512000 6 5 0 0 1 0 0 RGNEF 64283 broad.mit.edu 37 5 73205660 73205660 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:73205660G>A uc010izf.3 + 33 4761 c.4585G>A c.(4585-4587)Ggc>Agc p.G1529S RGNEF_uc011csq.2_Missense_Mutation_p.G1529S|RGNEF_uc021yam.1_Missense_Mutation_p.G1529S|RGNEF_uc011csr.2_Missense_Mutation_p.G1216S|RGNEF_uc003kcz.4_Missense_Mutation_p.G493S|RGNEF_uc003kda.4_Missense_Mutation_p.G449S NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA. 1529 Interaction with microtubules (By similarity). cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) GAGCCTGCTGGGCCACTGGAA 0.701000 7 4 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37591677 37591677 + Silent SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr21:37591677A>G uc002yvg.3 + 9 1216 c.1137A>G c.(1135-1137)caA>caG p.Q379Q DOPEY2_uc011aeb.2_Silent_p.Q379Q NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN Homo sapiens dopey family member 2 (DOPEY2), mRNA. 379 Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CAGGGCCTCAAGTGGTTGGGA 0.393000 78 34 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101870745 101870745 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:101870745C>T uc003uys.4 + 20 3389 c.3262C>T c.(3262-3264)Ccc>Tcc p.P1088S CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.P1077S NM_001202543 NP_001189472 P39880 CUX1_HUMAN Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA. 1077 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 GGTCCAGCAGCCCTGTCCCCC 0.657000 107 24 0 0 1 0 0 SYNDIG1 79953 broad.mit.edu 37 20 24524043 24524043 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr20:24524043G>A uc002wtw.1 + 1 943 c.310G>A c.(310-312)Gac>Aac p.D104N NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA. 104 response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 24 CTCCTGGGGGGACGGTGTGGC 0.637000 68 29 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143425608 143425608 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:143425608G>A uc003ywj.3 - 2 503 c.464C>T c.(463-465)gCc>gTc p.A155V TSNARE1_uc011lju.2_Missense_Mutation_p.A155V|TSNARE1_uc003ywk.3_Missense_Mutation_p.A155V|TSNARE1_uc003ywl.4_Intron NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA. 155 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) AGTGGGCTCGGCCTTCAGCAG 0.637000 27 22 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580141 7580141 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:7580141G>A uc003mxp.1 + 22 3997 c.3718G>A c.(3718-3720)Gat>Aat p.D1240N DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.D1240N NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 1240 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAACCAGCTTGATAGACTTTC 0.413000 29 18 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234749392 234749392 + Missense_Mutation SNP G C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:234749392G>C uc002vvg.3 - 7 2100 c.2034C>G c.(2032-2034)ttC>ttG p.F678L HJURP_uc010znd.2_Missense_Mutation_p.F617L|HJURP_uc010zne.2_Missense_Mutation_p.F586L NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Homo sapiens Holliday junction recognition protein (HJURP), mRNA. 678 CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) TTTTTGCAGGGAACTGATGGT 0.577000 53 34 0 0 1 0 0 MAGT1 84061 broad.mit.edu 37 X 77130979 77130979 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:77130979G>A uc004fof.3 - 1 376 c.314C>T c.(313-315)tCc>tTc p.S105F MAGT1_uc004fog.4_Non-coding_Transcript|MAGT1_uc004ect.4_Missense_Mutation_p.S105F NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN Homo sapiens magnesium transporter 1 (MAGT1), mRNA. 73 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 GACGATAACGGAGTAATTTCT 0.408000 39 77 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3240517 3240517 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:3240517C>T uc004crg.4 - 4 3366 c.3209G>A c.(3208-3210)gGa>gAa p.G1070E NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1070 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TAGCATATTTCCTCCCTGTAG 0.458000 10 37 0 0 1 0 0 FADS3 3995 broad.mit.edu 37 11 61646941 61646941 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:61646941G>A uc001nsm.3 - 2 518 c.365C>T c.(364-366)gCc>gTc p.A122V NM_021727 NP_068373 Q9Y5Q0 FADS3_HUMAN Homo sapiens fatty acid desaturase 3 (FADS3), mRNA. 122 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 CATGTCCTCGGCTGCCTGGTG 0.597000 9 8 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420780 11420780 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:11420780G>A uc001qzs.3 - 2 441 c.403C>T c.(403-405)Ccg>Tcg p.P135S PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA. 135 10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich. extracellular region Gram-negative bacterial cell surface binding p.P135L(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGACGAGGCGGGGGACCTTGG 0.642000 149 73 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480269 140480269 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140480269G>A uc003lio.3 + 0 36 c.36G>A c.(34-36)agG>agA p.R12R BC016751_uc003lin.3_Non-coding_Transcript NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 12 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTAGACAAAGGCAAGTCTTGC 0.507000 19 19 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20739546 20739546 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:20739546C>T uc010kuh.3 + 17 2490 c.2253C>T c.(2251-2253)ttC>ttT p.F751F ABCB5_uc003suw.4_Silent_p.F306F NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 306 ABC transporter 2. regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TCAGTTATTTCATGCAGGTAA 0.294000 16 25 0 0 1 0 0 FOXN4 121643 broad.mit.edu 37 12 109717634 109717634 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:109717634T>C uc001toe.4 - 9 1501 c.1396A>G c.(1396-1398)Acc>Gcc p.T466A FOXN4_uc009zvg.3_Missense_Mutation_p.T263A|FOXN4_uc001tof.4_Missense_Mutation_p.T286A NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN Homo sapiens forkhead box N4 (FOXN4), mRNA. 466 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.G284_P287>A(1) large_intestine(5)|lung(9)|ovary(2) 16 GAGGCAGGGGTTAGGCCTGAG 0.627000 19 8 0 0 1 0 0 IQGAP3 128239 broad.mit.edu 37 1 156521541 156521541 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:156521541G>A uc001fpf.3 - 14 1765 c.1690C>T c.(1690-1692)Cgg>Tgg p.R564W IQGAP3_uc009wsb.1_Missense_Mutation_p.R521W NM_178229 NP_839943 Q86VI3 IQGA3_HUMAN Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA. 564 small GTPase mediated signal transduction intracellular Ras GTPase activator activity|calmodulin binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGATGGTACCGAGGGGCGACA 0.567000 32 16 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141750058 141750058 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:141750058C>T uc003vwy.3 + 22 2665 c.2611C>T c.(2611-2613)Ctt>Ttt p.L871F NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 871 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TAAAGTGTATCTTTTATGTGA 0.413000 167 53 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51890235 51890235 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:51890235G>A uc003pah.1 - 31 4649 c.4373C>T c.(4372-4374)tCc>tTc p.S1458F PKHD1_uc003pai.3_Missense_Mutation_p.S1458F NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 1458 IPT/TIG 9. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GACGTTCAGGGAGAAGGAAGC 0.527000 10 19 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150946321 150946321 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:150946321G>A uc003lue.4 - 0 2185 c.2172C>T c.(2170-2172)gtC>gtT p.V724V FAT2_uc010jhx.1_Silent_p.V724V NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 724 Cadherin 6. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACTCTCAAGGACATCAATGG 0.483000 57 59 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155171226 155171226 + Silent SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:155171226A>G uc001fix.3 - 10 1416 c.1311T>C c.(1309-1311)aaT>aaC p.N437N THBS3_uc021pat.1_5'UTR|THBS3_uc010pfu.2_Silent_p.N317N|THBS3_uc009wqi.3_Silent_p.N428N|THBS3_uc001fiy.3_5'UTR|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript NM_007112 NP_009043 P49746 TSP3_HUMAN Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA. 437 EGF-like 4. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ACACTGCACCATTGCGTTCAA 0.622000 61 27 0 0 1 0 0 FKBP5 2289 broad.mit.edu 37 6 35547853 35547853 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:35547853T>C uc011dte.1 - 8 1189 c.986A>G c.(985-987)aAg>aGg p.K329R FKBP5_uc003okx.2_Missense_Mutation_p.K329R|FKBP5_uc011dtf.1_Missense_Mutation_p.K150R|FKBP5_uc003oky.2_Missense_Mutation_p.K329R NM_001145776 NP_004108 Q13451 FKBP5_HUMAN Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA. 329 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 TTCTCTAAGCTTCAGGTAGCA 0.428000 58 34 0 0 1 0 0 BCAS4 55653 broad.mit.edu 37 20 49446846 49446846 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr20:49446846G>A uc002xvq.3 + 2 347 c.283G>A c.(283-285)Gaa>Aaa p.E95K BCAS4_uc002xvp.1_Missense_Mutation_p.E95K|BCAS4_uc002xvr.3_Missense_Mutation_p.E95K|BCAS4_uc002xvs.3_Missense_Mutation_p.E95K NM_017843 NP_060313 Q8TDM0 BCAS4_HUMAN Homo sapiens breast carcinoma amplified sequence 4 (BCAS4), transcript variant 1, mRNA. 95 cytoplasm large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1) 6 GATCCTGGAGGAAAACATCCC 0.517000 31 12 0 0 1 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531347 140531347 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140531347C>T uc003lir.3 + 0 1509 c.1509C>T c.(1507-1509)tcC>tcT p.S503S NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 503 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGGTCTCCATCAACGCGG 0.667000 42 47 0 0 1 0 0 FAM110C 642273 broad.mit.edu 37 2 45442 45442 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:45442C>T uc010yim.2 - 0 1147 c.944G>A c.(943-945)cGa>cAa p.R315Q NM_001077710 NP_001071178 Q1W6H9 F110C_HUMAN Homo sapiens family with sequence similarity 110, member C (FAM110C), mRNA. 315 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) GCACACACCTCGGGTCCGGCT 0.632000 39 15 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71780317 71780317 + Splice_Site SNP C G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:71780317C>G uc010fen.3 + 20 2125 c.1984_splice c.e20+1 p.G662_splice DYSF_uc010fei.3_Splice_Site_p.G661_splice|DYSF_uc010feh.3_Splice_Site_p.G630_splice|DYSF_uc002sig.4_Splice_Site_p.G630_splice|DYSF_uc010yqx.2_Splice_Site|DYSF_uc010feg.3_Splice_Site_p.G675_splice|DYSF_uc010fee.3_Splice_Site_p.G644_splice|DYSF_uc010fef.3_Splice_Site_p.G661_splice|DYSF_uc002sie.3_Splice_Site_p.G644_splice|DYSF_uc010feo.3_Splice_Site_p.G676_splice|DYSF_uc010fej.3_Splice_Site_p.G631_splice|DYSF_uc010fel.3_Splice_Site_p.G631_splice|DYSF_uc010fem.3_Splice_Site_p.G645_splice|DYSF_uc002sif.3_Splice_Site_p.G645_splice|DYSF_uc010fek.3_Splice_Site_p.G662_splice NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 644 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 CAGTCTTTGACGGTGAGGCAG 0.587000 43 24 0 0 1 0 0 HJURP 55355 broad.mit.edu 37 2 234749390 234749390 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:234749390G>A uc002vvg.3 - 7 2102 c.2036C>T c.(2035-2037)cCt>cTt p.P679L HJURP_uc010znd.2_Missense_Mutation_p.P618L|HJURP_uc010zne.2_Missense_Mutation_p.P587L NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Homo sapiens Holliday junction recognition protein (HJURP), mRNA. 679 CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) TCTTTTTGCAGGGAACTGATG 0.572000 53 33 0 0 1 0 0 OR52M1 119772 broad.mit.edu 37 11 4567205 4567205 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:4567205C>T uc010qyf.2 + 0 785 c.785C>T c.(784-786)tCc>tTc p.S262F NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 262 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTGTTTCTTCCCTGATTCAC 0.502000 40 23 0 0 1 0 0 C1orf94 84970 broad.mit.edu 37 1 34666393 34666393 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:34666393G>A uc001bxt.3 + 2 1868 c.1030G>A c.(1030-1032)Gag>Aag p.E344K C1orf94_uc001bxs.4_Missense_Mutation_p.E154K NM_001134734 NP_116273 Q6P1W5 CA094_HUMAN Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA. 154 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) TGGCACCAAGGAGCCAAAAAA 0.562000 83 24 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108719488 108719488 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:108719488C>T uc003dxl.3 - 20 2190 c.2103G>A c.(2101-2103)atG>atA p.M701I MORC1_uc011bhn.2_Missense_Mutation_p.M680I NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 701 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 GCTTCCTTTTCATTTCCCAAG 0.363000 59 17 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78400220 78400220 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:78400220C>T uc001syp.3 + 7 1075 c.902C>T c.(901-903)tCg>tTg p.S301L NAV3_uc001syo.3_Missense_Mutation_p.S301L NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 301 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GGACCTCAATCGTCTTCAGGT 0.458000 HNSCC(70;0.22) 50 22 0 0 1 0 0 TMEM19 55266 broad.mit.edu 37 12 72092833 72092833 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:72092833C>T uc001sws.3 + 4 1374 c.791C>T c.(790-792)gCt>gTt p.A264V TMEM19_uc001swr.1_Missense_Mutation_p.A250V NM_018279 NP_060749 Q96HH6 TMM19_HUMAN Homo sapiens transmembrane protein 19 (TMEM19), mRNA. 264 integral to membrane p.A264A(1) large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) GGTGGTTTAGCTGGATTACTA 0.403000 56 23 0 0 1 0 0 ANO4 121601 broad.mit.edu 37 12 101491710 101491710 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:101491710G>A uc010svm.1 + 20 2565 c.1993G>A c.(1993-1995)Gaa>Aaa p.E665K ANO4_uc001thw.2_Missense_Mutation_p.E630K|ANO4_uc001thx.2_Missense_Mutation_p.E665K|ANO4_uc001thy.2_Missense_Mutation_p.E185K NM_178826 NP_849148 Q32M45 ANO4_HUMAN Homo sapiens anoctamin 4 (ANO4), mRNA. 665 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 taatttcatggaacttggcta 0.413000 HNSCC(74;0.22) 42 15 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21747425 21747425 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:21747425C>T uc003svc.3 + 40 6707 c.6676C>T c.(6676-6678)Cat>Tat p.H2226Y NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 2226 AAA 2 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.H2226H(1) NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 TTTCATACATCATGCTACCCG 0.383000 Kartagener syndrome 39 9 0 0 1 0 0 PRKAG2 51422 broad.mit.edu 37 7 151372516 151372516 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:151372516G>A uc003wkk.3 - 3 1285 c.674C>T c.(673-675)cCc>cTc p.P225L PRKAG2_uc011kvl.2_Missense_Mutation_p.P101L|PRKAG2_uc003wkj.3_Missense_Mutation_p.P181L|PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.P225L NM_016203 NP_077747 Q9UGJ0 AAKG2_HUMAN Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA. 225 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) GGCTTTGGAGGGAGCATAGTG 0.627000 25 26 0 0 1 0 0 SGCD 6444 broad.mit.edu 37 5 156074493 156074493 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:156074493C>T uc003lwc.4 + 6 1041 c.522C>T c.(520-522)ttC>ttT p.F174F SGCD_uc003lwb.3_Silent_p.F174F|SGCD_uc003lwd.4_Silent_p.F173F NM_000337 NP_001121681 Q92629 SGCD_HUMAN Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA. 173 cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1) 24 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCACAGTGTTCCCTAAATCTA 0.438000 108 87 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115805766 115805766 + Nonsense_Mutation SNP C A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:115805766C>A uc011lwz.1 - 3 1205 c.1177G>T c.(1177-1179)Gaa>Taa p.E393* ZFP37_uc004bgm.1_Nonsense_Mutation_p.E378*|ZFP37_uc011lxa.1_Nonsense_Mutation_p.E379* NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA. 378 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 TCAGCACATTCATAGGGCTTT 0.418000 48 26 2.61193e-14 2.64796e-14 1 1 0 PKHD1 5314 broad.mit.edu 37 6 51524127 51524128 + Missense_Mutation DNP GT AA AA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:51524127_51524128GT>AA uc003pah.1 - 60 11072_11073 c.10796_10797AC>TT c.(10795-10797)cac>cTT p.H3599L NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 3599 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CAGGCATCTCGTGAATAAACCT 0.406000 12 29 0 0 1 0 0 APP 351 broad.mit.edu 37 21 27264135 27264135 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr21:27264135C>T uc002ylz.3 - 16 2310 c.2110G>A c.(2110-2112)Gga>Aga p.G704R APP_uc011acg.2_Missense_Mutation_p.G212R|APP_uc010glk.3_Missense_Mutation_p.G680R|APP_uc002yma.3_Missense_Mutation_p.G685R|APP_uc011ach.2_Missense_Mutation_p.G648R|APP_uc021whz.1_Missense_Mutation_p.G686R|APP_uc021wia.1_Missense_Mutation_p.G667R|APP_uc002ymb.3_Missense_Mutation_p.G629R|APP_uc010glj.3_Missense_Mutation_p.G573R|APP_uc021wib.1_Missense_Mutation_p.G611R|APP_uc011aci.2_Missense_Mutation_p.G594R NM_000484 NP_000475 P05067 A4_HUMAN Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA. 704 Implicated in free radical propagation (By similarity). G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(209;0.00295) ACCATGAGTCCAATGATTGCA 0.383000 24 17 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72192259 72192259 + Missense_Mutation SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:72192259A>G uc002atl.4 - 23 3712 c.3239T>C c.(3238-3240)cTt>cCt p.L1080P MYO9A_uc010biq.3_Missense_Mutation_p.L700P|MYO9A_uc002atn.1_Missense_Mutation_p.L1061P|MYO9A_uc002atk.3_5'Flank|MYO9A_uc002atm.1_5'Flank NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN Homo sapiens myosin IXA (MYO9A), mRNA. 1080 IQ 3.|Neck or regulatory domain. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AGCTTGGAGAAGAGCAGCTGC 0.488000 25 8 0 0 1 0 0 CLSPN 63967 broad.mit.edu 37 1 36209113 36209113 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:36209113C>T uc001bzi.3 - 16 3065 c.2985G>A c.(2983-2985)gaG>gaA p.E995E CLSPN_uc009vux.3_Silent_p.E931E NM_022111 NP_071394 Q9HAW4 CLSPN_HUMAN Homo sapiens claspin (CLSPN), transcript variant 1, mRNA. 995 DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm DNA binding|anaphase-promoting complex binding p.E994*(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAAATTCCTCCTCCTCGTCTT 0.343000 67 25 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159898380 159898380 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:159898380C>T uc001fur.2 - 18 2996 c.2798G>A c.(2797-2799)cGa>cAa p.R933Q IGSF9_uc001fuq.2_Missense_Mutation_p.R917Q|IGSF9_uc001fup.2_Missense_Mutation_p.R79Q NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 933 Pro-rich. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) ATTCATCTCTCGGAAGAAGGG 0.627000 6 4 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55086445 55086445 + Silent SNP G A A rs141931276 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:55086445G>A uc010ern.3 + 4 1069 c.600G>A c.(598-600)tcG>tcA p.S200S LILRA1_uc002qgg.4_Silent_p.S200S|LILRA1_uc002qgf.3_Silent_p.S200S|LILRA1_uc010yfe.1_Silent_p.S200S|LILRA1_uc010yff.1_Silent_p.S188S|LILRA1_uc010ero.3_Silent_p.S188S|LILRA1_uc010yfg.1_Silent_p.S200S O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 202 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) CTTATGACTCGAACTCTCCCT 0.577000 85 54 0 0 1 0 0 SP140 11262 broad.mit.edu 37 2 231152654 231152654 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:231152654G>A uc002vql.3 + 17 1808 c.1693G>A c.(1693-1695)Gct>Act p.A565T SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.A451T|SP140_uc002vqm.3_Missense_Mutation_p.A505T|SP140_uc010fxl.3_Missense_Mutation_p.A538T NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 565 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GAGTGACAGAGCTGCACAGAA 0.398000 20 11 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119727733 119727733 + Silent SNP C T T rs75633112 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:119727733C>T uc002tln.1 + 2 375 c.243C>T c.(241-243)ttC>ttT p.F81F MARCO_uc010yyf.1_Silent_p.F3F NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA. 81 cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 AGATGTATTTCCTCAATGACA 0.582000 66 29 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83289650 83289650 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:83289650C>T uc001szt.3 + 2 1140 c.708C>T c.(706-708)tcC>tcT p.S236S TMTC2_uc001szr.1_Silent_p.S236S|TMTC2_uc001szs.1_Silent_p.S236S|TMTC2_uc010suk.2_5'UTR NM_152588 NP_689801 Q8N394 TMTC2_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA. 236 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 TCTGGGGTTCCTCCCTTTTGG 0.453000 67 49 0 0 1 0 0 SLC10A2 6555 broad.mit.edu 37 13 103701714 103701714 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:103701714C>T uc001vpy.4 - 4 1441 c.844G>A c.(844-846)Gag>Aag p.E282K NM_000452 NP_000443 Q12908 NTCP2_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA. 282 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ACATTGAGCTCCTCAGGAGTG 0.473000 44 34 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55339891 55339891 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:55339891G>A uc010rih.2 + 0 288 c.288G>A c.(286-288)atG>atA p.M96I NM_001004701 NP_001004701 Q8NGL9 OR4CG_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA. 96 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) GCGAGTGCATGATCCAAGTCT 0.468000 126 72 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105924005 105924005 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:105924005G>A uc001pja.3 - 3 2051 c.1411C>T c.(1411-1413)Cca>Tca p.P471S KBTBD3_uc001pjb.3_Missense_Mutation_p.P471S|KBTBD3_uc009yxm.3_Missense_Mutation_p.P392S NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA. 467 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TCAAGTGATGGGTTAAAAGCA 0.368000 19 12 0 0 1 0 0 PLAG1 5324 broad.mit.edu 37 8 57079507 57079507 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:57079507G>A uc003xsq.4 - 2 1249 c.798C>T c.(796-798)ctC>ctT p.L266L PLAG1_uc003xsr.4_Silent_p.L266L|PLAG1_uc010lyi.3_Silent_p.L266L|PLAG1_uc010lyj.3_Silent_p.L184L|PLAG1_uc022aur.1_Silent_p.L184L NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA. 266 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E265*(1) CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3) breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) TCACCGGAAGGAGCTCGTCTT 0.433000 T """TCEA1, LIFR, CTNNB1, CHCHD7""" salivary adenoma 105 87 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96199481 96199481 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:96199481C>T uc003hto.3 - 3 876 c.523G>A c.(523-525)Gga>Aga p.G175R UNC5C_uc010ilc.2_Missense_Mutation_p.G175R|UNC5C_uc003htq.3_Missense_Mutation_p.G175R NM_003728 NP_003719 O95185 UNC5C_HUMAN Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA. 175 Ig-like C2-type. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) ACTTCCTTTCCTAGGGGTTCC 0.408000 35 29 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140564140 140564140 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140564140C>T uc003liv.3 + 0 3161 c.2006C>T c.(2005-2007)cCc>cTc p.P669L PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 669 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCTCCCAGCCCTTCCTGCCG 0.692000 28 27 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140731925 140731925 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140731925C>T uc003ljo.2 + 0 2098 c.2098C>T c.(2098-2100)Ctc>Ttc p.L700F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Missense_Mutation_p.L700F|PCDHGC5_uc003ljp.1_5'Flank NM_018922 NP_061745 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA. 706 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGCTCTTTCTCCTCGCGGT 0.607000 67 67 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27802109 27802109 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:27802109C>T uc002rkz.4 + 0 2721 c.2670C>T c.(2668-2670)tcC>tcT p.S890S NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 890 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) AATATCTCTCCACTATGCTAA 0.463000 62 51 0 0 1 0 0 DNAH6 1768 broad.mit.edu 37 2 84780102 84780102 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:84780102G>A uc010fgb.3 + 9 1683 c.1546G>A c.(1546-1548)Gaa>Aaa p.E516K DNAH6_uc002soo.3_Missense_Mutation_p.E95K|DNAH6_uc002sop.3_Missense_Mutation_p.E95K NM_001370 NP_001361 Q9C0G6 DYH6_HUMAN Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA. 516 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 57 GTTTCTCACAGAACTAATGTT 0.403000 69 26 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64833072 64833072 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:64833072C>T uc001ssb.3 + 22 3288 c.2782C>T c.(2782-2784)Caa>Taa p.Q928* NM_007235 NP_009166 O43592 XPOT_HUMAN Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA. 928 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) GCCCTCCTTGCAAGTAGCTCC 0.403000 33 8 0 0 1 0 0 C1orf172 126695 broad.mit.edu 37 1 27278629 27278629 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:27278629C>T uc001bni.2 - 1 336 c.243G>A c.(241-243)tgG>tgA p.W81* BC016143_uc021ojq.1_Intron NM_152365 NP_689578 Q8NAX2 CA172_HUMAN Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA. 81 Cys-rich. p.W81*(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) ACTCCCACACCCAGGGTCGCC 0.672000 31 12 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61511969 61511969 + Missense_Mutation SNP G C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr20:61511969G>C uc002ydr.2 - 15 5651 c.5339C>G c.(5338-5340)cCg>cGg p.P1780R DIDO1_uc002yds.2_Missense_Mutation_p.P1780R NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1780 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TTCTGGAAACGGAGGGGCTGG 0.627000 82 40 0 0 1 0 0 ZNF862 643641 broad.mit.edu 37 7 149558490 149558490 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:149558490C>T uc010lpn.3 + 6 2433 c.2241C>T c.(2239-2241)gaC>gaT p.D747D NM_001099220 NP_001092690 O60290 ZN862_HUMAN Homo sapiens zinc finger protein 862 (ZNF862), mRNA. 747 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 AGAAGTGTGACCGGCACATCC 0.617000 58 18 0 0 1 0 0 RANGAP1 5905 broad.mit.edu 37 22 41660835 41660835 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:41660835C>T uc003azs.3 - 3 1783 c.313G>A c.(313-315)Gaa>Aaa p.E105K RANGAP1_uc003azt.3_Missense_Mutation_p.E105K|RANGAP1_uc003azu.3_Missense_Mutation_p.E105K|RANGAP1_uc011aoz.2_Missense_Mutation_p.E95K NM_002883 NP_002874 P46060 RAGP1_HUMAN Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA. 105 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole Ran GTPase activator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATGAGTCCTTCCCCTAGTGAG 0.597000 55 24 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090068 9090068 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:9090068C>T uc002mkp.3 - 0 1951 c.1747G>A c.(1747-1749)Gaa>Aaa p.E583K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 583 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 GATGTTTCTTCAAGCCAAATC 0.532000 30 10 0 0 1 0 0 PPP1R16A 84988 broad.mit.edu 37 8 145722742 145722742 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:145722742G>A uc003zdd.3 + 1 1078 c.165G>A c.(163-165)cgG>cgA p.R55R AK094577_uc003zde.1_Silent_p.F124F|PPP1R16A_uc003zdf.3_Silent_p.R55R NM_032902 NP_116291 Q96I34 PP16A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA. 55 Missing (in Ref. 1; BAC03452). plasma membrane protein binding NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) AGCGTCCCCGGAAGGAGGCAG 0.647000 24 14 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109696356 109696356 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:109696356G>A uc004eor.2 + 2 2757 c.2511G>A c.(2509-2511)gtG>gtA p.V837V RGAG1_uc011msr.1_Silent_p.V837V NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA. 837 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TGCCACAAGTGAAGGCTCCCA 0.537000 25 80 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143959234 143959234 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:143959234C>T uc010mey.3 - 3 554 c.547G>A c.(547-549)Gga>Aga p.G183R CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Intron|CYP11B1_uc003yxj.3_Intron NM_000497 NP_000488 P15538 C11B1_HUMAN Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 133 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 67 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) GAGGAATTTCCCCTGTCAGCC 0.522000 Familial Hyperaldosteronism type I 83 6 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558286 140558286 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140558286C>T uc011dai.2 + 0 916 c.671C>T c.(670-672)tCt>tTt p.S224F PCDHB16_uc003liv.3_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN Homo sapiens protocadherin beta 8 (PCDHB8), mRNA. 224 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCCCAGATCTGGCACTGCT 0.517000 163 12 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46133221 46133221 + Silent SNP C A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:46133221C>A uc010xxm.2 - 9 1270 c.1197G>T c.(1195-1197)gtG>gtT p.V399V EML2_uc002pcn.3_Silent_p.V198V|EML2_uc002pcp.3_Silent_p.V82V|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.V345V|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Silent_p.V198V|EML2_uc010ekj.3_Silent_p.V198V|EML2_uc010ekk.1_Non-coding_Transcript NM_001193268 NP_001180197 O95834 EMAL2_HUMAN Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA. 198 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) TGACATCCACCACCTTGGTCT 0.527000 32 14 1.3612e-06 1.37187e-06 1 1 0 NODAL 4838 broad.mit.edu 37 10 72195531 72195531 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:72195531C>T uc001jrc.2 - 1 444 c.402G>A c.(400-402)atG>atA p.M134I NM_018055 NP_060525 Q96S42 NODAL_HUMAN Homo sapiens nodal homolog (mouse) (NODAL), mRNA. 134 growth extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 15 TGAATAGGTCCATCTGAAACC 0.557000 47 21 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49225194 49225194 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr20:49225194C>T uc010zyt.2 - 9 1017 c.766G>A c.(766-768)Gag>Aag p.E256K FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.E252K|FAM65C_uc002xvn.1_Missense_Mutation_p.E252K NM_080829 NP_543019 Q96MK2 FA65C_HUMAN Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA. 252 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAGGCCTTCTCCTCTTCGTCC 0.642000 69 35 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234905064 234905064 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:234905064C>T uc002vvh.3 + 21 3074 c.3034C>T c.(3034-3036)Ccc>Tcc p.P1012S TRPM8_uc010fyj.3_Missense_Mutation_p.P590S|TRPM8_uc010fyk.3_Non-coding_Transcript NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA. 1012 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) CCTCAATATCCCCTTCCCCTT 0.522000 49 25 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20805363 20805363 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:20805363G>A uc009yid.3 + 3 559 c.406G>A c.(406-408)Gaa>Aaa p.E136K NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.E108K|NELL1_uc001mqf.3_Missense_Mutation_p.E108K|NELL1_uc010rdo.2_Missense_Mutation_p.E108K NM_006157 NP_006148 Q92832 NELL1_HUMAN Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA. 108 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GTCCATTCGAGAACTGGAGCA 0.413000 41 15 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688708 26688708 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr22:26688708G>A uc003acb.3 + 1 627 c.431G>A c.(430-432)aGg>aAg p.R144K SEZ6L_uc003acd.3_Missense_Mutation_p.R144K|SEZ6L_uc011akd.2_Missense_Mutation_p.R144K|SEZ6L_uc003ace.3_Missense_Mutation_p.R144K|SEZ6L_uc011akc.2_Missense_Mutation_p.R144K|SEZ6L_uc003acc.3_Missense_Mutation_p.R144K|SEZ6L_uc003acf.1_5'UTR|SEZ6L_uc010gvc.1_5'UTR NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 144 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 ACTGTCCAAAGGGCAGGGTCC 0.667000 21 11 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46607423 46607423 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:46607423G>A uc002ruv.3 + 11 2122 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K EPAS1_uc002ruw.3_Missense_Mutation_p.E4K NM_001430 NP_001421 Q99814 EPAS1_HUMAN Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA. 538 NTAD. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CATGGACGGGGAAGACTTCCA 0.587000 83 35 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104142922 104142922 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:104142922G>A uc001tjw.3 + 58 6612 c.6426G>A c.(6424-6426)aaG>aaA p.K2142K STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 2142 EGF-like 17. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 CCACCTGTAAGATGACAGGCC 0.592000 34 16 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24339714 24339714 + Silent SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:24339714A>G uc003xeb.3 + 8 878 c.765A>G c.(763-765)gaA>gaG p.E255E ADAM7_uc003xec.3_Silent_p.E27E NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 255 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) GGACACATGAAGATAAAATAG 0.308000 8 18 0 0 1 0 0 NR1H3 10062 broad.mit.edu 37 11 47281984 47281984 + Missense_Mutation SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:47281984A>G uc009ylm.3 + 3 507 c.257A>G c.(256-258)aAg>aGg p.K86R NR1H3_uc010rhk.2_Missense_Mutation_p.K92R|NR1H3_uc009yll.2_Missense_Mutation_p.K92R|NR1H3_uc001nek.3_Missense_Mutation_p.K41R|NR1H3_uc001nen.4_Missense_Mutation_p.K86R|NR1H3_uc001nem.3_Missense_Mutation_p.K86R NM_005693 NP_005684 Q13133 NR1H3_HUMAN Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA. 86 apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis nuclear chromatin|nucleoplasm cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5) 20 AAGCGGAAAAAGGGGCCAGCC 0.567000 95 4 0 0 1 0 0 MMP20 9313 broad.mit.edu 37 11 102480636 102480636 + Splice_Site SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:102480636C>T uc001phc.3 - 4 662 c.649_splice c.e4+1 p.G217_splice NM_004771 NP_004762 O60882 MMP20_HUMAN Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA. 217 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) GCATATATACCATTCGTTCCC 0.483000 35 17 0 0 1 0 0 DROSHA 29102 broad.mit.edu 37 5 31422943 31422943 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:31422943G>A uc003jhg.2 - 27 3729 c.3370C>T c.(3370-3372)Ctg>Ttg p.L1124L DROSHA_uc003jhh.2_Silent_p.L1087L|DROSHA_uc003jhi.2_Silent_p.L1087L NM_013235 NP_037367 Q9NRR4 RNC_HUMAN Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA. 1124 Necessary for interaction with DGCR8 and pri-miRNA processing activity.|RNase III 2. RNA processing|gene silencing by RNA|ribosome biogenesis nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 GCCCTTGCCAGAAGTCGAACA 0.393000 30 11 0 0 1 0 0 EXOC6 54536 broad.mit.edu 37 10 94733881 94733881 + Silent SNP T A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:94733881T>A uc010qnr.2 + 18 2036 c.1893T>A c.(1891-1893)ctT>ctA p.L631L EXOC6_uc001kie.3_Silent_p.L610L|EXOC6_uc001kig.3_Silent_p.L615L|EXOC6_uc009xub.3_Silent_p.L614L|EXOC6_uc009xuc.3_Silent_p.L512L|EXOC6_uc001kih.3_Non-coding_Transcript|EXOC6_uc001kii.3_Silent_p.L189L NM_001013848 NP_001013870 Q8TAG9 EXOC6_HUMAN Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA. 615 protein transport|vesicle docking involved in exocytosis exocyst cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 26 Colorectal(252;0.123) TTGTTCAGCTTGCTGATTATG 0.363000 244 192 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35633959 35633959 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:35633959C>T uc002hnm.3 - 6 849 c.658G>A c.(658-660)Gaa>Aaa p.E220K ACACA_uc002hnk.3_Missense_Mutation_p.E142K|ACACA_uc002hnl.3_Missense_Mutation_p.E162K|ACACA_uc002hnn.3_Missense_Mutation_p.E220K|ACACA_uc002hno.3_Missense_Mutation_p.E257K|ACACA_uc010cuz.3_Missense_Mutation_p.E220K|ACACA_uc002hnq.2_Missense_Mutation_p.E142K NM_198836 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA. 220 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) AAGAGAAGTTCCGGTAGTTTG 0.418000 104 47 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1643086 1643086 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:1643086C>T uc002qxa.3 - 19 4125 c.4061G>A c.(4060-4062)cGg>cAg p.R1354Q NM_012293 NP_036425 Q92626 PXDN_HUMAN Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. 1354 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity p.R1354W(1) breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) GGGTATTTTCCGTGGTCTTGT 0.577000 14 6 0 0 1 0 0 HSPA12A 259217 broad.mit.edu 37 10 118434800 118434800 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:118434800G>A uc001lct.3 - 11 1625 c.1520C>T c.(1519-1521)cCc>cTc p.P507L HSPA12A_uc001lcu.3_Missense_Mutation_p.P424L NM_025015 NP_079291 O43301 HS12A_HUMAN Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA. 507 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) CACGTCCTGGGGGATGATGAT 0.667000 20 5 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 908974 908974 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:908974C>T uc001ace.3 + 11 1579 c.1544C>T c.(1543-1545)cCc>cTc p.P515L PLEKHN1_uc001acd.3_Missense_Mutation_p.P463L|PLEKHN1_uc001acf.3_Missense_Mutation_p.P428L NM_032129 NP_115505 Q494U1 PKHN1_HUMAN Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA. 515 central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) TACACACCACCCGCCACCTCC 0.657000 52 57 0 0 1 0 0 RGS4 5999 broad.mit.edu 37 1 163044239 163044239 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:163044239C>T uc001gcl.4 + 5 1127 c.798C>T c.(796-798)ctC>ctT p.L266L RGS4_uc009wuy.3_Silent_p.L169L|RGS4_uc009wuz.3_3'UTR|RGS4_uc009wva.3_Silent_p.L151L NM_001102445 NP_001106851 P49798 RGS4_HUMAN Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA. 169 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane GTPase activator activity|calmodulin binding|signal transducer activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2) 21 GCCGCTTCCTCAAGTCTCGAT 0.507000 167 89 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215916657 215916657 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:215916657G>A uc001hku.1 - 58 11797 c.11410C>T c.(11410-11412)Cct>Tct p.P3804S NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3804 Fibronectin type-III 23. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.P3804S(2) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TACTCCACAGGAATTTCGGGG 0.403000 HNSCC(13;0.011) 46 22 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81635619 81635619 + Splice_Site SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:81635619C>T uc021ssk.1 - 15 1715 c.1715_splice c.e15+1 p.W572_splice TMC3_uc021ssj.1_Splice_Site_p.W572_splice|TMC3_uc010blr.1_Splice_Site|TMC3_uc002bgp.3_Splice_Site_p.W572_splice NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN Homo sapiens transmembrane channel-like 3 (TMC3), mRNA. 572 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TGATACCTACCAAATCATTCC 0.348000 40 23 0 0 1 0 0 PDLIM1 9124 broad.mit.edu 37 10 96997712 96997712 + Silent SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:96997712A>G uc001kkh.3 - 6 1069 c.960T>C c.(958-960)ggT>ggC p.G320G NM_020992 NP_066272 O00151 PDLI1_HUMAN Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA. 320 response to oxidative stress cytoplasm|cytoskeleton zinc ion binding endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2) 10 Colorectal(252;0.083) Epithelial(162;1.64e-06)|all cancers(201;3.71e-05) CCACTTCATAACCCTCAGGTG 0.537000 31 7 0 0 1 0 0 OR51M1 390059 broad.mit.edu 37 11 5411147 5411147 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:5411147C>T uc010qzc.2 + 0 541 c.519C>T c.(517-519)ctC>ctT p.L173L HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA. 173 integral to membrane olfactory receptor activity NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTATTGTCCTCCTCCTGAAGG 0.527000 117 92 0 0 1 0 0 KDM5D 8284 broad.mit.edu 37 Y 21871433 21871433 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrY:21871433G>A uc004fug.3 - 19 3134 c.2846C>T c.(2845-2847)tCc>tTc p.S949F KDM5D_uc011naz.2_Missense_Mutation_p.S980F|KDM5D_uc010nwy.3_Missense_Mutation_p.S892F|KDM5D_uc011nba.1_3'UTR|KDM5D_uc004fuf.3_Missense_Mutation_p.S124F NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA. 949 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(1)|large_intestine(9)|lung(6)|skin(1) 17 Vitamin C(DB00126) AGAAGGGCTGGAGGCTATCTT 0.577000 4 18 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54799319 54799319 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:54799319T>C uc021smr.1 + 20 5300 c.5300T>C c.(5299-5301)aTc>aCc p.I1767T UNC13C_uc021sms.1_Missense_Mutation_p.I1769T NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1769 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TCTTAGACTATCAATAAAGTG 0.313000 8 5 0 0 1 0 0 PCDH19 57526 broad.mit.edu 37 X 99597063 99597063 + Missense_Mutation SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:99597063A>G uc010nmz.3 - 4 4362 c.2686T>C c.(2686-2688)Ttc>Ctc p.F896L PCDH19_uc004efw.4_Missense_Mutation_p.F848L|PCDH19_uc004efx.4_Missense_Mutation_p.F849L NM_001184880 NP_001171809 Q8TAB3 PCD19_HUMAN Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA. 896 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 AAGTCCTTGAAGGTGGAGCTG 0.463000 5 37 0 0 1 0 0 QSER1 79832 broad.mit.edu 37 11 32955372 32955372 + Silent SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:32955372A>G uc001mty.3 + 3 2448 c.2181A>G c.(2179-2181)ttA>ttG p.L727L QSER1_uc001mtz.1_Silent_p.L488L|QSER1_uc001mua.3_Silent_p.L232L NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN Homo sapiens glutamine and serine rich 1 (QSER1), mRNA. 727 Gln-rich. breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) AGGTCCTTTTAGATTCTGCCT 0.413000 29 15 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085370 9085370 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:9085370C>T uc002mkp.3 - 0 6649 c.6445G>A c.(6445-6447)Gcc>Acc p.A2149T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2149 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 GAAGTTATGGCCATTGGAAGA 0.493000 31 24 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33156166 33156166 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:33156166G>A uc003ocx.1 - 3 807 c.579C>T c.(577-579)gcC>gcT p.A193A COL11A2_uc003ocy.1_Silent_p.A193A|COL11A2_uc003ocz.1_Silent_p.A193A|COL11A2_uc003oda.3_Silent_p.A193A NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 193 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCAGAATACGGGCACCAAAGA 0.542000 68 26 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101190259 101190259 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:101190259C>T uc001dti.3 + 3 962 c.741C>T c.(739-741)tcC>tcT p.S247S VCAM1_uc010ouj.2_Silent_p.S185S|VCAM1_uc001dtj.3_Silent_p.S247S NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 247 Ig-like C2-type 3. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding p.C246F(2) central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TGACCTGTTCCAGCGAGGGTC 0.418000 12 38 0 0 1 0 0 TSPAN15 23555 broad.mit.edu 37 10 71243542 71243542 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:71243542C>T uc001jpo.1 + 1 317 c.192C>T c.(190-192)atC>atT p.I64I NM_012339 NP_036471 O95858 TSN15_HUMAN Homo sapiens tetraspanin 15 (TSPAN15), mRNA. 64 integral to plasma membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1) 9 CTCCAGCCATCATCCTCATCC 0.552000 37 30 0 0 1 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587513 42587513 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:42587513C>T uc003xpi.1 + 4 1191 c.1063C>T c.(1063-1065)Cgc>Tgc p.R355C NM_000749 NP_000740 Q05901 ACHB3_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA. 355 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity p.R355C(2) endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TCATGTGGATCGCTACTCATC 0.448000 43 19 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69536047 69536047 + Nonsense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:69536047C>T uc021xow.1 - 0 448 c.290G>A c.(289-291)tGg>tAg p.W97* NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 97 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ACCATATATCCATCTATCGAG 0.284000 60 43 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94908971 94908971 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr14:94908971C>T uc001ydd.1 - 4 1301 c.1241G>A c.(1240-1242)gGa>gAa p.G414E NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA. 414 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) GACAACTTTTCCCAGGAAGAG 0.537000 2 5 0 0 1 0 0 ATPBD4 89978 broad.mit.edu 37 15 35830580 35830580 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr15:35830580G>A uc001zja.3 - 2 269 c.207C>T c.(205-207)ctC>ctT p.L69L ATPBD4_uc001zjb.2_Silent_p.L69L NM_080650 NP_542381 Q7L8W6 ATBD4_HUMAN Homo sapiens ATP binding domain 4 (ATPBD4), transcript variant 1, mRNA. 69 endometrium(1)|kidney(1)|lung(9) 11 all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07) all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) TTCGGCGATAGAGGGGAAGAG 0.453000 56 47 0 0 1 0 0 SKIV2L 6499 broad.mit.edu 37 6 31928311 31928311 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr6:31928311C>T uc003nyn.1 + 4 846 c.457C>T c.(457-459)Ccc>Tcc p.P153S RDBP_uc003nyk.3_5'Flank|RDBP_uc011dot.2_5'Flank|RDBP_uc021yvb.1_5'Flank|SKIV2L_uc011dou.1_5'UTR|SKIV2L_uc011dov.1_Intron NM_006929 NP_008860 Q15477 SKIV2_HUMAN Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA. 153 nucleus ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 AACTCAGTATCCCTTCTGGCC 0.542000 271 147 0 0 1 0 0 EMR1 2015 broad.mit.edu 37 19 6897305 6897305 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:6897305C>T uc002mfw.3 + 3 422 c.384C>T c.(382-384)ttC>ttT p.F128F EMR1_uc010dvc.3_Silent_p.F128F|EMR1_uc010dvb.3_Intron|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Silent_p.F128F NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 128 EGF-like 2; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CGGGCAATTTCTCCTGTACTG 0.493000 34 16 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25593740 25593740 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:25593740G>A uc002kwg.2 - 2 765 c.306C>T c.(304-306)ttC>ttT p.F102F CDH2_uc010xbn.1_Silent_p.F71F NM_001792 NP_001783 P19022 CADH2_HUMAN Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA. 102 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding p.F102S(1) NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CATATATCAGGAACTTGGCAT 0.458000 83 45 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347907 140347907 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:140347907C>T uc003lii.3 + 0 2161 c.1556C>T c.(1555-1557)aCc>aTc p.T519I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.T519I NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 519 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGCCAGTCACCTCCTATGTC 0.507000 18 36 0 0 1 0 0 OR2C1 4993 broad.mit.edu 37 16 3406001 3406001 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:3406001C>T uc002cuw.1 + 0 113 c.61C>T c.(61-63)Ccc>Tcc p.P21S NM_012368 NP_036500 O95371 OR2C1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA. 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 ATCAGACCATCCCCAGCTGGA 0.493000 54 27 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125315812 125315812 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:125315812C>T uc011lyx.2 + 0 364 c.364C>T c.(364-366)Ctt>Ttt p.L122F NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 ATATTTCCTCCTTATGTTTGG 0.493000 92 62 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42041341 42041341 + Missense_Mutation SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:42041341A>G uc001cgz.4 - 4 6294 c.5081T>C c.(5080-5082)gTt>gCt p.V1694A HIVEP3_uc001cha.4_Missense_Mutation_p.V1694A|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 1694 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) TTCCGGGGAAACCAGTGAAGG 0.542000 67 21 0 0 1 0 0 KLHDC10 23008 broad.mit.edu 37 7 129756408 129756408 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:129756408C>T uc003vpj.2 + 2 512 c.377C>T c.(376-378)cCt>cTt p.P126L KLHDC10_uc003vpk.2_Missense_Mutation_p.P97L|KLHDC10_uc010lmb.2_Intron NM_014997 NP_055812 Q6PID8 KLD10_HUMAN Homo sapiens kelch domain containing 10 (KLHDC10), mRNA. 126 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 GAAGACTATCCTCTCTTCAGG 0.468000 114 33 0 0 1 0 0 GPR37L1 9283 broad.mit.edu 37 1 202092105 202092105 + Nonsense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:202092105G>A uc001gxj.3 + 0 77 c.14G>A c.(13-15)tGg>tAg p.W5* NM_004767 NP_004758 O60883 ETBR2_HUMAN Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA. 5 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 CGGTGGCTGTGGCCCCTGGCT 0.667000 12 63 0 0 1 0 0 LY96 23643 broad.mit.edu 37 8 74917094 74917094 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:74917094G>A uc003yad.3 + 1 290 c.176G>A c.(175-177)gGa>gAa p.G59E LY96_uc022awb.1_Intron NM_015364 NP_056179 Q9Y6Y9 LY96_HUMAN Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA. 59 I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) AGATCCAAAGGATTATTGCAC 0.269000 52 21 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133142140 133142140 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:133142140G>A uc003ytj.3 - 14 2213 c.1988C>T c.(1987-1989)aCc>aTc p.T663I KCNQ3_uc003yti.3_Missense_Mutation_p.T543I|KCNQ3_uc010mdt.3_Missense_Mutation_p.T651I NM_004519 NP_004510 O43525 KCNQ3_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA. 663 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGGCGAGGAGGTGCCCTTGGT 0.537000 86 45 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900535 51900535 + Silent SNP G C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:51900535G>C uc002iua.2 + 0 297 c.141G>C c.(139-141)acG>acC p.T47T NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 47 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity p.T47T(2) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CTGTGGTCACGGAGATCAACA 0.527000 42 32 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951765 119951765 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:119951765C>T uc010inb.3 + 3 2031 c.1835C>T c.(1834-1836)cCc>cTc p.P612L SYNPO2_uc010ina.3_Missense_Mutation_p.P612L|SYNPO2_uc003icm.4_Missense_Mutation_p.P612L|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.P540L|SYNPO2_uc021xrd.1_5'Flank NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 612 Pro-rich. Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ATGACGAGTCCCATTGCTGAC 0.572000 62 37 0 0 1 0 0 SYT7 9066 broad.mit.edu 37 11 61318936 61318936 + Splice_Site SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:61318936C>T uc001nrv.3 - 3 188 c.136_splice c.e3-1 p.G46_splice SYT7_uc009ynr.3_Splice_Site_p.G46_splice|SYT7_uc001nrx.1_Splice_Site NM_004200 NP_004191 O43581 SYT7_HUMAN Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA. 46 cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 AGCGTTTGCCCTGTGGAGATA 0.587000 47 24 0 0 1 0 0 DBC1 1620 broad.mit.edu 37 9 121976406 121976406 + Missense_Mutation SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr9:121976406A>G uc004bkc.2 - 5 1169 c.713T>C c.(712-714)cTg>cCg p.L238P DBC1_uc004bkd.2_Missense_Mutation_p.L238P NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 238 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CTTCTCTTGCAGATACTGAGG 0.453000 24 17 0 0 1 0 0 GTF2E2 2961 broad.mit.edu 37 8 30464574 30464574 + Splice_Site SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:30464574C>T uc003xig.3 - 6 896 c.643_splice c.e6+1 p.E215_splice NM_002095 NP_002086 P29084 T2EB_HUMAN Homo sapiens general transcription factor IIE, polypeptide 2, beta 34kDa (GTF2E2), mRNA. 215 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction transcription factor TFIIE complex DNA binding|protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135) AAAAGCTCACCTTCATCCACA 0.289000 33 24 0 0 1 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478943 14478943 + RNA SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:14478943C>T uc010xai.2 - 2 c.621G>A Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA. GCTGTAAATTCGTTACATTTA 0.363000 16 15 0 0 1 0 0 AHRR 57491 broad.mit.edu 37 5 427994 427994 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:427994C>T uc003jav.3 + 8 890 c.847C>T c.(847-849)Ccg>Tcg p.P283S AHRR_uc003jaw.3_Missense_Mutation_p.P265S|AHRR_uc010isy.3_Missense_Mutation_p.P111S|AHRR_uc010isz.3_Missense_Mutation_p.P261S|AHRR_uc003jax.3_Missense_Mutation_p.P24S|AHRR_uc003jay.3_Missense_Mutation_p.P121S NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA. 265 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1) 20 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) AGCCATGCTCCCGCCGCGGCT 0.562000 22 10 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187486 152187486 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:152187486G>A uc001ezt.1 - 2 6695 c.6619C>T c.(6619-6621)Cgt>Tgt p.R2207C NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 2207 keratinization calcium ion binding|protein binding p.R2207C(2) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGAAGAACGACCTGAGCCA 0.602000 446 12 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69795746 69795746 + Nonsense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:69795746G>A uc003hef.2 - 5 1400 c.1369C>T c.(1369-1371)Cga>Tga p.R457* UGT2A3_uc010ihp.1_Non-coding_Transcript NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 457 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AAGACTGCTCGATCTAGGGGC 0.448000 40 29 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508235 37508235 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:37508235C>T uc021ppc.1 + 33 3526 c.3427C>T c.(3427-3429)Cat>Tat p.H1143Y ANKRD30A_uc001iza.1_Missense_Mutation_p.H1143Y NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 1199 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TGAATCACACCATCCTAGACT 0.398000 38 37 0 0 1 0 0 TNMD 64102 broad.mit.edu 37 X 99849347 99849347 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:99849347G>A uc004efy.4 + 3 637 c.411G>A c.(409-411)gaG>gaA p.E137E TNMD_uc004efz.2_Silent_p.E137E NM_022144 NP_071427 Q9H2S6 TNMD_HUMAN Homo sapiens tenomodulin (TNMD), mRNA. 137 BRICHOS. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1) 16 AACCAGAAGAGGAAATAGATG 0.343000 3 16 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23928095 23928095 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:23928095G>A uc002nrk.4 - 3 399 c.257C>T c.(256-258)tCa>tTa p.S86L ZNF681_uc002nrl.4_Missense_Mutation_p.S17L|ZNF681_uc002nrj.4_Missense_Mutation_p.S17L NM_138286 NP_612143 Q96N22 ZN681_HUMAN Homo sapiens zinc finger protein 681 (ZNF681), mRNA. 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CTGCTCTGGTGAAAAGTCTTG 0.313000 14 4 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95107398 95107398 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:95107398C>T uc001kin.3 - 36 4348 c.4225G>A c.(4225-4227)Gag>Aag p.E1409K MYOF_uc001kio.3_Missense_Mutation_p.E1396K|MYOF_uc009xue.3_Non-coding_Transcript NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA. 1409 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 ACGATGTCCTCTTTCCCTGCA 0.522000 18 15 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57422559 57422559 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:57422559G>A uc001cyp.3 - 2 341 c.274C>T c.(274-276)Ccc>Tcc p.P92S C8B_uc010oon.2_Missense_Mutation_p.P30S|C8B_uc010ooo.2_Missense_Mutation_p.P40S NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 92 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.P92S(2) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 AACTGAGAGGGCTGGAGCAAG 0.507000 72 71 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233409160 233409160 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:233409160G>A uc002vsx.1 + 9 1140 c.1119G>A c.(1117-1119)cgG>cgA p.R373R CHRNG_uc010fye.1_Silent_p.R321R NM_005199 NP_005190 P07510 ACHG_HUMAN Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA. 373 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CCCAGTCCCGGCTACAGAATG 0.652000 79 51 0 0 1 0 0 AX747828 0 broad.mit.edu 37 3 196159174 196159175 + Missense_Mutation DNP CC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:196159174_196159175CC>TT uc003fwo.1 + 0 940_941 c.687_688CC>TT c.(685-690)cacctt>caTTtt p.L230F UBXN7_uc003fwm.4_Intron|UBXN7_uc003fwn.4_Intron|UBXN7_uc010iae.3_Intron|UBXN7_uc010iaf.3_Intron RecName: Full=Putative uncharacterized protein FLJ35645; CCACTCTCCACCTTCCGGTAAC 0.639000 18 10 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231534 7231534 + Missense_Mutation SNP C G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr18:7231534C>G uc010wzk.2 + 0 398 c.398C>G c.(397-399)cCg>cGg p.P133R NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA. 133 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 ACAGAGGTGCCGGCCGAGCTG 0.592000 21 10 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 100166805 100166805 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:100166805C>T uc001tge.2 - 7 1440 c.1023G>A c.(1021-1023)aaG>aaA p.K341K ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Silent_p.K307K NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 341 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) ACGAATAATCCTTTTCTTGAC 0.353000 34 19 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17395735 17395735 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:17395735G>A uc001baf.3 - 15 1884 c.1802C>T c.(1801-1803)cCc>cTc p.P601L PADI2_uc010ocm.2_Missense_Mutation_p.P485L NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA. 601 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) GAATGGCTTGGGGATGCCCAG 0.587000 32 42 0 0 1 0 0 KRT75 9119 broad.mit.edu 37 12 52825840 52825840 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:52825840C>T uc001saj.2 - 2 746 c.724G>A c.(724-726)Gaa>Aaa p.E242K NM_004693 NP_004684 O95678 K2C75_HUMAN Homo sapiens keratin 75 (KRT75), mRNA. 242 Coil 1B.|Rod. E -> G (in dbSNP:rs2232393). keratin filament structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1) 28 BRCA - Breast invasive adenocarcinoma(357;0.192) TTGTTAATTTCATCTTCGTAC 0.453000 26 10 0 0 1 0 0 IGF1 3479 broad.mit.edu 37 12 102811694 102811694 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:102811694C>T uc001tjp.4 - 3 709 c.490G>A c.(490-492)Ggg>Agg p.G164R IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron NM_001111285 NP_001104755 P05019 IGF1_HUMAN Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA. 164 DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1) 11 GCTTCTGTCCCCTCCTTCTGT 0.468000 203 98 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46623370 46623370 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:46623370C>T uc009zkj.1 - 3 860 c.175G>A c.(175-177)Gaa>Aaa p.E59K SLC38A1_uc001rpb.3_Missense_Mutation_p.E59K|SLC38A1_uc001rpc.3_Missense_Mutation_p.E59K|SLC38A1_uc001rpd.3_Missense_Mutation_p.E59K|SLC38A1_uc001rpe.3_Missense_Mutation_p.E59K|SLC38A1_uc010slh.2_Missense_Mutation_p.E32K|SLC38A1_uc001rpa.3_Missense_Mutation_p.E59K NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA. 59 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TTCTTTTTTTCCAAATGGCTG 0.279000 58 22 0 0 1 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24466079 24466079 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr13:24466079C>T uc010tcw.2 - 2 371 c.351G>A c.(349-351)gaG>gaA p.E117E MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_3'UTR|C1QTNF9B-AS1_uc009zzx.3_3'UTR|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Silent_p.E117E NM_001007537 NP_001007538 B2RNN3 C1T9B_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA. 117 Collagen-like 2. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 GAGGCCCAGTCTCTCCTCGGA 0.597000 51 15 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48749885 48749885 + Missense_Mutation SNP A G G TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:48749885A>G uc003xqi.3 - 57 7703 c.7646T>C c.(7645-7647)aTa>aCa p.I2549T PRKDC_uc003xqj.3_Missense_Mutation_p.I2549T NM_006904 NP_008835 P78527 PRKDC_HUMAN Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA. 2550 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) GTGCACTTCTATCTTAGGAGA 0.393000 Non-homologous end-joining 22 11 0 0 1 0 0 SAMD12 401474 broad.mit.edu 37 8 119592994 119592994 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:119592994C>T uc003yom.2 - 1 281 c.152G>A c.(151-153)gGa>gAa p.G51E SAMD12_uc010mda.1_Missense_Mutation_p.G51E|SAMD12_uc010mdb.1_Non-coding_Transcript NM_207506 NP_997389 Q8N8I0 SAM12_HUMAN Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA. 51 endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) CTTGGGAGTTCCTTTCTGGTC 0.428000 40 50 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150718687 150718687 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr5:150718687G>A uc003lty.3 - 4 589 c.459C>T c.(457-459)ttC>ttT p.F153F SLC36A2_uc003ltz.3_Intron|SLC36A2_uc003lua.3_Intron|SLC36A2_uc010jhv.2_Silent_p.F153F|SLC36A2_uc011dct.1_Silent_p.F153F NM_181776 NP_861441 Q495M3 S36A2_HUMAN Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA. 153 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGATAATAAGGAAGAAGCTCA 0.403000 43 31 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27157447 27157447 + Splice_Site SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:27157447G>A uc002rhu.4 + 8 949 c.791_splice c.e8-1 p.G264_splice DPYSL5_uc002rhv.4_Splice_Site_p.G264_splice|DPYSL5_uc021vev.1_Splice_Site_p.G264_splice NM_020134 NP_064519 Q9BPU6 DPYL5_HUMAN Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA. 264 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTCTTCCAGGGAAGGTTGTGC 0.572000 69 44 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207646192 207646192 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:207646192G>A uc001hfw.3 + 9 1765 c.1646G>A c.(1645-1647)gGa>gAa p.G549E CR2_uc001hfv.3_Missense_Mutation_p.G549E|CR2_uc009xch.3_Missense_Mutation_p.G549E|CR2_uc009xci.1_Missense_Mutation_p.G34E NM_001877 NP_001868 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA. 549 Sushi 9. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 TTTCCATATGGAACCACGGTC 0.473000 40 17 0 0 1 0 0 SORCS2 57537 broad.mit.edu 37 4 7684478 7684478 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:7684478G>A uc003gkb.4 + 9 1350 c.1350G>A c.(1348-1350)ggG>ggA p.G450G SORCS2_uc011bwi.2_Silent_p.G278G NM_020777 NP_065828 Q96PQ0 SORC2_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA. 450 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 42 AGGTCAGAGGGGTGAAAGGAG 0.483000 12 7 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48372117 48372118 + Missense_Mutation DNP CC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:48372117_48372118CC>TT uc001rqu.3 - 42 3140_3141 c.2959_2960GG>AA c.(2959-2961)ggg>AAg p.G987K COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G918K NM_001844 NP_001835 P02458 CO2A1_HUMAN Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA. 987 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) ACCACGTTGCCCAGGCAGACCG 0.634000 22 12 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15375303 15375303 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:15375303G>A uc002nar.3 - 5 1346 c.1124C>T c.(1123-1125)cCc>cTc p.P375L BRD4_uc002nas.3_Missense_Mutation_p.P375L|BRD4_uc002nat.3_Missense_Mutation_p.P375L|BRD4_uc002nau.4_Missense_Mutation_p.P375L NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 375 Bromo 2. interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) CTTGTAGAAGGGCCAGGCGTA 0.577000 T C15orf55 lethal midline carcinoma of young people OREG0025319 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 22 0 0 1 0 0 XRN1 54464 broad.mit.edu 37 3 142037515 142037516 + Missense_Mutation DNP GG AA AA TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:142037515_142037516GG>AA uc003eus.3 - 38 4603_4604 c.4536_4537CC>TT c.(4534-4539)ttccct>ttTTct p.P1513S XRN1_uc010huu.3_Missense_Mutation_p.P980S|XRN1_uc003eut.3_Missense_Mutation_p.P1513S|XRN1_uc003euu.3_Missense_Mutation_p.P1514S NM_019001 NP_061874 Q8IZH2 XRN1_HUMAN Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA. 1513 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|RNA binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 GAAGGCAAAGGGAAATTCATGC 0.376000 27 12 0 0 1 0 0 OR9I1 219954 broad.mit.edu 37 11 57886068 57886068 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:57886068G>A uc001nml.1 - 0 849 c.849C>T c.(847-849)ccC>ccT p.P283P OR9Q1_uc001nmj.3_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA. 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I282fs*4(1) endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1) 23 Breast(21;0.0589) GGTTCAGCATGGGGATGACCA 0.458000 55 41 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98609786 98609786 + Silent SNP C T T rs149548740 TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr7:98609786C>T uc003upp.3 + 71 11597 c.11388C>T c.(11386-11388)gcC>gcT p.A3796A TRRAP_uc011kis.2_Silent_p.A3767A|TRRAP_uc003upr.3_Silent_p.A3502A|TRRAP_uc003ups.3_5'Flank NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 3796 PI3K/PI4K. histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCTCGGCCGCCGGGCAGCCAG 0.577000 26 29 0 0 1 0 0 SLC16A1 6566 broad.mit.edu 37 1 113471845 113471845 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:113471845G>A uc001ecx.3 - 1 918 c.86C>T c.(85-87)tCc>tTc p.S29F SLC16A1_uc001ecy.3_Missense_Mutation_p.S29F|SLC16A1_uc001ecz.3_Missense_Mutation_p.S29F NM_001166496 NP_003042 P53985 MOT1_HUMAN Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA. 29 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) GAAGCCGATGGAAATGAAAGC 0.468000 8 34 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815026 106815026 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:106815026G>A uc003ymd.3 + 7 2739 c.2716G>A c.(2716-2718)Gat>Aat p.D906N ZFPM2_uc011lhs.2_Missense_Mutation_p.D637N NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 906 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AAACAGCCCTGATGTCAGCTA 0.458000 12 18 0 0 1 0 0 IVL 3713 broad.mit.edu 37 1 152883885 152883885 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:152883885G>A uc021ozl.1 + 0 1612 c.1612G>A c.(1612-1614)Ggg>Agg p.G538R IVL_uc001fau.3_Missense_Mutation_p.G538R NM_005547 NP_005538 P07476 INVO_HUMAN Homo sapiens involucrin (IVL), mRNA. 538 39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD]. isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) gcagcagaaggggcagctgga 0.577000 18 5 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74922716 74922716 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:74922716C>T uc002jti.3 + 8 1331 c.1228C>T c.(1228-1230)Cct>Tct p.P410S MGAT5B_uc002jth.3_Missense_Mutation_p.P399S NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA. 399 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 CGGGACGGAACCTGCGTACAA 0.617000 27 24 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46305590 46305590 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr4:46305590C>T uc011bzc.1 - 6 990 c.578G>A c.(577-579)aGa>aAa p.R193K GABRA2_uc003gxc.3_Missense_Mutation_p.R248K|GABRA2_uc010igc.2_Missense_Mutation_p.R248K|GABRA2_uc003gxe.3_Missense_Mutation_p.R248K P47869 GBRA2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA. 248 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.S192*(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCCAATTTTTCTTTTCAGGTG 0.363000 39 17 0 0 1 0 0 VIPR1 7433 broad.mit.edu 37 3 42567408 42567408 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:42567408G>A uc003clf.2 + 3 446 c.322G>A c.(322-324)Gaa>Aaa p.E108K VIPR1_uc021wwl.1_Missense_Mutation_p.E67K|VIPR1_uc011azn.2_Missense_Mutation_p.E81K|VIPR1_uc011azl.1_Missense_Mutation_p.E61K|VIPR1_uc011azm.1_5'UTR NM_004624 NP_001238811 P32241 VIPR1_HUMAN Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA. 108 G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) CTGCACCGACGAAGGCTGGAC 0.647000 14 8 0 0 1 0 0 SLC38A10 124565 broad.mit.edu 37 17 79254472 79254472 + Missense_Mutation SNP T C C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr17:79254472T>C uc002jzz.1 - 5 938 c.563A>G c.(562-564)tAc>tGc p.Y188C SLC38A10_uc002jzy.1_Missense_Mutation_p.Y106C|SLC38A10_uc002kab.3_Missense_Mutation_p.Y188C NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA. 188 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CCAGCGGACGTAGCTGACCCG 0.637000 15 18 0 0 1 0 0 ABCC6 368 broad.mit.edu 37 16 16256936 16256936 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:16256936G>A uc002den.4 - 23 3457 c.3420C>T c.(3418-3420)ttC>ttT p.F1140F ABCC6_uc010bvo.3_Intron NM_001171 NP_001162 O95255 MRP6_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA. 1140 ABC transmembrane type-1 2. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) CCTGGGTTCGGAATGCCCGGA 0.587000 65 31 0 0 1 0 0 STT3B 201595 broad.mit.edu 37 3 31674613 31674613 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:31674613C>T uc011axe.2 + 14 2374 c.2374C>T c.(2374-2376)Cca>Tca p.P792S NM_178862 NP_849193 Q8TCJ2 STT3B_HUMAN Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA. 792 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 CAACATTTTCCCAAAACAGAA 0.378000 10 6 0 0 1 0 0 THNSL2 55258 broad.mit.edu 37 2 88474315 88474315 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr2:88474315C>T uc002ssy.4 + 1 2072 c.381C>T c.(379-381)ttC>ttT p.F127F THNSL2_uc002ssw.4_Silent_p.F127F|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_5'UTR|THNSL2_uc021vkq.1_Silent_p.F127F|THNSL2_uc021vkr.1_Silent_p.F127F NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA. 127 threonine biosynthetic process threonine synthase activity breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 27 TGCAGTACTTCCTGGAGAAGA 0.517000 58 29 0 0 1 0 0 ALDH1L2 160428 broad.mit.edu 37 12 105462516 105462516 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr12:105462516G>A uc001tlc.3 - 3 702 c.575C>T c.(574-576)cCt>cTt p.P192L ALDH1L2_uc009zuo.3_5'Flank|ALDH1L2_uc009zup.3_Non-coding_Transcript NM_001034173 NP_001029345 Q3SY69 AL1L2_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 192 GART. 10-formyltetrahydrofolate catabolic process|biosynthetic process mitochondrion acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2) 35 GATTCCTTCAGGAAAAAGAAA 0.353000 21 16 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15482798 15482798 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:15482798C>T uc002nav.3 - 6 1073 c.1003G>A c.(1003-1005)Ggt>Agt p.G335S AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Missense_Mutation_p.G149S NM_005858 NP_005849 O43823 AKAP8_HUMAN Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA. 335 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 CGGAAGTCACCAGCTGCGTCA 0.537000 19 13 0 0 1 0 0 NDUFAF6 137682 broad.mit.edu 37 8 96070152 96070152 + Missense_Mutation SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:96070152G>A uc003yhj.3 + 8 1012 c.989G>A c.(988-990)aGa>aAa p.R330K NDUFAF6_uc011lgs.2_Intron|NDUFAF6_uc003yhi.3_Missense_Mutation_p.R278K|NDUFAF6_uc003yhk.3_Non-coding_Transcript NM_152416 NP_689629 Q330K2 CH038_HUMAN Homo sapiens chromosome 8 open reading frame 38 (C8orf38), nuclear gene encoding mitochondrial protein, mRNA. 330 biosynthetic process mitochondrion transferase activity CAGTCATGGAGAAAAACATAT 0.279000 117 93 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69012065 69012065 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:69012065C>T uc003xxv.1 + 22 2729 c.2702C>T c.(2701-2703)tCc>tTc p.S901F PREX2_uc003xxu.1_Missense_Mutation_p.S901F|PREX2_uc011lez.1_Missense_Mutation_p.S836F NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 901 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CAGAGAATATCCAGTTATAAA 0.284000 30 18 0 0 1 0 0 TUBGCP2 10844 broad.mit.edu 37 10 135111499 135111499 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:135111499G>A uc010qvc.1 - 4 930 c.573C>T c.(571-573)ttC>ttT p.F191F TUBGCP2_uc001lmg.1_Silent_p.F191F|TUBGCP2_uc010qvd.1_Silent_p.F61F|TUBGCP2_uc009ybk.1_Silent_p.F191F|TUBGCP2_uc001lmh.1_Non-coding_Transcript NM_006659 NP_006650 Q9BSJ2 GCP2_HUMAN Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA. 191 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytoplasmic microtubule|cytosol|spindle pole protein binding breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 35 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;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05) CACCAATCAGGAAATCCCCGA 0.522000 33 11 0 0 1 0 0 RPSA 3921 broad.mit.edu 37 19 24010418 24010418 + Missense_Mutation SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:24010418C>T uc002nrn.3 + 3 878 c.455C>T c.(454-456)tCt>tTt p.S152F NM_002295 NP_002286 P08865 RSSA_HUMAN Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA. 152 cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) AACACAGATTCTCCTCTGCGC 0.542000 34 16 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58563902 58563903 + Missense_Mutation DNP CC TT TT TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr19:58563902_58563903CC>TT uc002qrc.1 + 4 757_758 c.510_511CC>TT c.(508-513)ctcccc>ctTTcc p.P171S NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 171 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCCCAGCACTCCCCGAGGAAAG 0.653000 41 29 0 0 1 0 0 SNRNP40 9410 broad.mit.edu 37 1 31754332 31754332 + Silent SNP G A A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr1:31754332G>A uc010oge.2 - 4 589 c.543C>T c.(541-543)atC>atT p.I181I SNRNP40_uc001bso.3_Silent_p.I181I NM_004814 NP_004805 Q96DI7 SNR40_HUMAN Homo sapiens small nuclear ribonucleoprotein 40kDa (U5) (SNRNP40), mRNA. 181 U5 snRNP|catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 7 CTTTCTTCCGGATGTCCCAAA 0.423000 20 6 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124066713 124066713 + Silent SNP C T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:124066713C>T uc001lgc.1 + 9 1052 c.801C>T c.(799-801)acC>acT p.T267T BTBD16_uc001lgd.1_Silent_p.T266T NM_144587 NP_653188 Q32M84 BTBDG_HUMAN Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA. 267 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) GGTTATTTACCTTTAGTGAAT 0.368000 57 14 0 0 1 0 0 EXOSC7 23016 broad.mit.edu 37 3 45048959 45048959 + Frame_Shift_Del DEL C - - TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr3:45048959delC uc003coi.2 + 6 692 c.663delC c.(661-663)tgcfs p.C221fs EXOSC7_uc003coh.1_Frame_Shift_Del_p.C156fs|EXOSC7_uc010his.1_Frame_Shift_Del_p.C140fs NM_015004 NP_055819 Q15024 EXOS7_HUMAN Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA. 221 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|RNA binding|protein binding endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) AGGAGGCCTGCTCGCTGGCCA 0.617 --- 48 --- --- 20 --- ARC 23237 broad.mit.edu 37 8 143695114 143695114 + Frame_Shift_Del DEL G - - TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr8:143695114delG uc022bca.1 - 0 519 c.519delC c.(517-519)gccfs p.A173fs ARC_uc003ywn.1_Frame_Shift_Del_p.A173fs NM_015193 NP_056008 Q7LC44 ARC_HUMAN Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA. 173 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) GCGGGGTGATGGCGTAGGGGC 0.741 --- 4 --- --- 2 --- ARMC4 55130 broad.mit.edu 37 10 28151489 28151489 + Frame_Shift_Del DEL T - - TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr10:28151489delT uc009xky.3 - 17 2771 c.2673delA c.(2671-2673)aaafs p.K891fs ARMC4_uc010qds.2_Frame_Shift_Del_p.K416fs|ARMC4_uc010qdt.2_Frame_Shift_Del_p.K583fs|ARMC4_uc001itz.3_Frame_Shift_Del_p.K891fs NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA. 891 binding 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 TGTTATCTGATTTCAGTAAAT 0.353 --- 27 --- --- 14 --- HNRNPKP3 399881 broad.mit.edu 37 11 43283606 43283606 + RNA DEL A - - TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr11:43283606delA uc001mxe.1 - 1 c.1330delT Homo sapiens heterogeneous nuclear ribonucleoprotein K pseudogene 3 (HNRNPKP3), non-coding RNA. AAGCAAATGTAAAAAAAAAAA 0.388 --- 4 --- --- 2 --- SBK1 388228 broad.mit.edu 37 16 28328743 28328743 + Frame_Shift_Del DEL C - - TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chr16:28328743delC uc002dpd.3 + 1 820 c.31delC c.(31-33)cccfs p.P11fs NM_001024401 NP_001019572 Q52WX2 SBK1_HUMAN Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA. 11 cytoplasm ATP binding|protein serine/threonine kinase activity kidney(1)|lung(3)|ovary(1) 5 GCCTGAGCCGCCCCGCTCCCT 0.667 OREG0023701 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) --- 34 --- --- 19 --- RBMX 27316 broad.mit.edu 37 X 135961585 135961586 + Frame_Shift_Ins INS - T T TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 88f2c496-3eb4-4c03-b3a5-8d5a55803aaf 567a575c-97b9-475c-8954-5f4e868f0a83 g.chrX:135961585_135961586insT uc004fae.2 - 1 211_212 c.1_2insA c.(1-3)atgfs p.M1fs RBMX_uc011mwf.1_Frame_Shift_Ins_p.M1fs|RBMX_uc004fad.1_Frame_Shift_Ins_p.M1fs|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank NM_002139 NP_002130 P38159 HNRPG_HUMAN Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA. 1 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm RNA binding|nucleotide binding|protein binding p.?(1) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) TGCTTCAACCATGTTTTTTTTT 0.391 --- 44 --- --- 7 ---