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 NPNT 255743 broad.mit.edu 37 4 106863615 106863615 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:106863615C>T uc011cfd.2 + 8 1218 c.1005C>T c.(1003-1005)atC>atT p.I335I NPNT_uc011cfc.2_Silent_p.I322I|NPNT_uc011cfe.2_Silent_p.I335I|NPNT_uc003hya.3_Silent_p.I305I|NPNT_uc011cff.2_Silent_p.I305I NM_001184691 NP_001171620 Q6UXI9 NPNT_HUMAN Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA. 305 Pro-rich. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) TTCCTCCTATCATTACCAACA 0.458000 107 39 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36269880 36269880 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:36269880G>A uc010jwf.2 + 5 1018 c.1018G>A c.(1018-1020)Gag>Aag p.E340K PNPLA1_uc010jwe.1_Missense_Mutation_p.E254K|PNPLA1_uc003olw.1_Missense_Mutation_p.E245K NM_001145717 NP_775947 Q8N8W4 PLPL1_HUMAN Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA. 340 Pro-rich. lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 ATTCACATGCGAGTCACCTGT 0.557000 OREG0017382 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 101 28 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62746982 62746982 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:62746982C>T uc001nwk.3 - 7 1672 c.1339G>A c.(1339-1341)Gaa>Aaa p.E447K SLC22A6_uc001nwl.3_Missense_Mutation_p.E447K|SLC22A6_uc001nwj.3_Missense_Mutation_p.E447K|SLC22A6_uc001nwm.3_Missense_Mutation_p.E447K NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA. 447 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GGATACAGTTCCCCAGTATAC 0.517000 50 10 0 0 1 0 0 FAM19A5 25817 broad.mit.edu 37 22 48885451 48885451 + Missense_Mutation SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:48885451T>C uc003bim.4 + 0 164 c.47T>C c.(46-48)cTg>cCg p.L16P NM_001082967 NP_001076436 Q7Z5A7 F19A5_HUMAN Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA. 16 extracellular region|integral to membrane large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) GCGACCGCCCTGCCCAGCATG 0.726000 2 3 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54930866 54930866 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:54930866G>A uc003dhf.3 + 25 2385 c.2337G>A c.(2335-2337)ggG>ggA p.G779G CACNA2D3_uc003dhg.1_Silent_p.G685G|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Non-coding_Transcript NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 779 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.G779E(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGATTCCAGGGAGCTTCGTCT 0.562000 106 34 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41711179 41711179 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:41711179C>T uc002yyq.1 - 6 1826 c.1374G>A c.(1372-1374)atG>atA p.M458I DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 458 Ig-like C2-type 5. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCGACGTGATCATCTGGCTGA 0.607000 57 23 0 0 1 0 0 G6PC2 57818 broad.mit.edu 37 2 169764269 169764269 + Missense_Mutation SNP C T T rs147360987 byFrequency TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:169764269C>T uc002uem.3 + 4 840 c.748C>T c.(748-750)Cac>Tac p.H250Y G6PC2_uc002uen.3_3'UTR|G6PC2_uc010fpv.3_Missense_Mutation_p.H134Y NM_021176 NP_066999 Q9NQR9 G6PC2_HUMAN Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA. 250 gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport endoplasmic reticulum membrane|integral to membrane glucose-6-phosphatase activity breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 13 CGACTGGATCCACATTGACAC 0.527000 73 20 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 397067 397067 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:397067G>A uc021qbk.1 + 3 640 c.611G>A c.(610-612)gGg>gAg p.G204E PKP3_uc001lpc.3_Missense_Mutation_p.G189E NM_007183 NP_009114 Q9Y446 PKP3_HUMAN Homo sapiens plakophilin 3 (PKP3), mRNA. 189 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) 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) CTGGGGCCCGGGGGCCTGGAC 0.711000 42 7 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109527396 109527396 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:109527396C>T uc010fjn.3 - 7 1209 c.662G>A c.(661-663)gGc>gAc p.G221D EDAR_uc010yws.2_Missense_Mutation_p.G221D|EDAR_uc002teq.4_Intron NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 217 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 CGCATGGGGGCCGTCACCTGG 0.597000 26 6 0 0 1 0 0 ABP1 26 broad.mit.edu 37 7 150554221 150554221 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:150554221G>A uc003why.1 + 2 4881 c.663G>A c.(661-663)gtG>gtA p.V221V ABP1_uc003whz.1_Silent_p.V221V|ABP1_uc003wia.1_Silent_p.V221V NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 221 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) AGCTCCTCGTGGATCATGGGA 0.607000 90 19 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17211775 17211775 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:17211775G>A uc002dfa.3 - 10 2370 c.2285C>T c.(2284-2286)cCc>cTc p.P762L NM_022166 NP_071449 Q86Y38 XYLT1_HUMAN Homo sapiens xylosyltransferase I (XYLT1), mRNA. 762 glycosaminoglycan biosynthetic process Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.G761W(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTCATCCATGGGCCCCAGAAG 0.572000 67 20 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4099246 4099247 + Missense_Mutation DNP GG AA AA TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:4099246_4099247GG>AA uc002lzk.3 - 6 1125_1126 c.871_872CC>TT c.(871-873)cct>TTt p.P291F MAP2K2_uc002lzj.3_Missense_Mutation_p.P101F NM_030662 NP_109587 P36507 MP2K2_HUMAN Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA. 291 Pro-rich.|Protein kinase. ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GATGCTGTGAGGCTCTCCTTCT 0.713000 7 5 0 0 1 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338397 13338397 + RNA SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:13338397C>T uc003gms.3 + 0 c.3361C>T Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA. kidney(3)|lung(1) 4 CAAAGCTGATCTCATAAATAA 0.438000 77 38 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75651420 75651420 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:75651420C>T uc002bah.3 - 17 2189 c.2172G>A c.(2170-2172)ttG>ttA p.L724L MAN2C1_uc010bkk.3_Silent_p.L608L|MAN2C1_uc002baf.3_Silent_p.L707L|MAN2C1_uc002bag.3_Silent_p.L707L Q9NTJ4 MA2C1_HUMAN Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA. 707 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 CCACCAGGACCAAGGACGTCA 0.587000 53 16 0 0 1 0 0 P2RX2 22953 broad.mit.edu 37 12 133196278 133196278 + Missense_Mutation SNP T A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:133196278T>A uc001ukk.1 + 2 323 c.323T>A c.(322-324)tTc>tAc p.F108Y P2RX2_uc001uki.1_Missense_Mutation_p.F108Y|P2RX2_uc001ukj.1_Missense_Mutation_p.F108Y|P2RX2_uc001ukl.1_Intron|P2RX2_uc001ukm.1_Intron|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Missense_Mutation_p.F108Y|P2RX2_uc001uko.1_Intron NM_170683 NP_733783 Q9UBL9 P2RX2_HUMAN Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2 (P2RX2), transcript variant 4, mRNA. 108 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) GGCAGCGTGTTCAGCATCATC 0.741000 15 5 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143018857 143018857 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:143018857G>A uc003wcr.1 + 4 699 c.612G>A c.(610-612)aaG>aaA p.K204K CLCN1_uc011ktc.1_5'UTR|CLCN1_uc003wcs.1_Non-coding_Transcript|CLCN1_uc010lox.1_Non-coding_Transcript|CLCN1_uc010loy.1_Silent_p.K52K NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 204 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TTGTCCTGAAGGAATACCTCA 0.532000 86 23 0 0 1 0 0 MLL2 8085 broad.mit.edu 37 12 49424413 49424413 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:49424413G>A uc001rta.4 - 40 13810 c.13810C>T c.(13810-13812)Cct>Tct p.P4604S NM_003482 NP_003473 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA. 4604 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5) 366 TAGTAGTCAGGGCCAGTGGGC 0.527000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 28 5 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496610 20496610 + RNA SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:20496610G>A uc001ytf.1 + 5 c.663G>A Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA. TCTACTAGTCGAAAGTGGCCT 0.438000 59 5 0 0 1 0 0 DEFB131 644414 broad.mit.edu 37 4 9446267 9446267 + Missense_Mutation SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:9446267T>C uc011bwt.2 + 0 8 c.8T>C c.(7-9)gTc>gCc p.V3A NM_001040448 NP_001035538 P59861 DB131_HUMAN Homo sapiens defensin, beta 131 (DEFB131), mRNA. 3 defense response to bacterium extracellular region lung(2) 2 ACCATGAGGGTCTTGTTTTTT 0.373000 109 74 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6291937 6291937 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:6291937G>A uc001mcp.3 + 3 970 c.715G>A c.(715-717)Ggg>Agg p.G239R CCKBR_uc001mcq.3_Missense_Mutation_p.G167R|CCKBR_uc001mcr.3_Missense_Mutation_p.G239R|CCKBR_uc001mcs.3_Missense_Mutation_p.G239R|CCKBR_uc001mct.1_5'Flank NM_176875 NP_795344 P32239 GASR_HUMAN Homo sapiens cholecystokinin B receptor (CCKBR), mRNA. 239 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding p.Y238Y(1) NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CGTGGCCTACGGGCTTATCTC 0.582000 61 16 0 0 1 0 0 TAF6 6878 broad.mit.edu 37 7 99709600 99709601 + Missense_Mutation DNP GT AA AA TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:99709600_99709601GT>AA uc003uth.3 - 6 1050_1051 c.913_914AC>TT c.(913-915)acg>TTg p.T305L TAF6_uc003utg.3_Missense_Mutation_p.T170L|TAF6_uc003utm.3_Missense_Mutation_p.T248L|TAF6_uc003uti.3_Missense_Mutation_p.T248L|TAF6_uc003utk.3_Missense_Mutation_p.T248L|TAF6_uc011kji.2_Missense_Mutation_p.T285L NM_139315 NP_647476 P49848 TAF6_HUMAN Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA. 248 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCCAGGGTCCGTGGCAATGCTT 0.604000 33 13 0 0 1 0 0 ATAD3C 219293 broad.mit.edu 37 1 1392547 1392548 + Missense_Mutation DNP GG AA AA TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:1392547_1392548GG>AA uc001aft.2 + 7 1723_1724 c.728_729GG>AA c.(727-729)cgg>cAA p.R243Q NM_001039211 NP_001034300 Q5T2N8 ATD3C_HUMAN Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA. 243 ATP binding|nucleoside-triphosphatase activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4) 7 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) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCCTTCCTTCGGAAGCGAGCCA 0.644000 37 42 0 0 1 0 0 SLC38A4 55089 broad.mit.edu 37 12 47181798 47181798 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:47181798G>A uc001rpi.2 - 4 626 c.227C>T c.(226-228)tCc>tTc p.S76F SLC38A4_uc001rpj.2_Missense_Mutation_p.S76F|SLC38A4_uc009zkl.2_Missense_Mutation_p.S76F NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 76 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CATTCCAAAGGAAGTGGTTCC 0.433000 40 20 0 0 1 0 0 ATG2B 55102 broad.mit.edu 37 14 96779469 96779469 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:96779469G>A uc001yfi.3 - 24 4140 c.3775C>T c.(3775-3777)Ctt>Ttt p.L1259F NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA. 1259 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ACGGTAAGAAGAGATCGGATT 0.378000 78 17 0 0 1 0 0 FAM27L 284123 broad.mit.edu 37 17 21825445 21825445 + RNA SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:21825445C>T uc002gyz.3 + 0 c.76C>T Homo sapiens family with sequence similarity 27-like (FAM27L), non-coding RNA. central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463) cctgacttctccacggggtac 0.642000 33 8 0 0 1 0 0 S1PR2 9294 broad.mit.edu 37 19 10335455 10335455 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:10335455G>A uc002mnl.2 - 1 238 c.127C>T c.(127-129)Ctc>Ttc p.L43F S1PR2_uc021uos.1_Missense_Mutation_p.L43F NM_004230 NP_004221 O95136 S1PR2_HUMAN Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA. 43 activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GCGCAACAGAGGATGACGATG 0.557000 141 24 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30701805 30701805 + Nonsense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:30701805C>T uc003tbn.3 - 6 970 c.725G>A c.(724-726)tGg>tAg p.W242* CRHR2_uc010kvw.2_Nonsense_Mutation_p.W242*|CRHR2_uc010kvx.2_Nonsense_Mutation_p.W241*|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Nonsense_Mutation_p.W78*|CRHR2_uc003tbo.3_Nonsense_Mutation_p.W228*|CRHR2_uc003tbp.3_Nonsense_Mutation_p.W269* NM_001883 NP_001874 Q13324 CRFR2_HUMAN Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA. 242 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCCGATGGCCCAGGCGACGAT 0.562000 65 24 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90050957 90050957 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:90050957G>A uc003kju.3 + 54 11631 c.11535G>A c.(11533-11535)atG>atA p.M3845I GPR98_uc003kjt.3_Missense_Mutation_p.M1551I|GPR98_uc003kjv.3_Missense_Mutation_p.M1445I NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3845 Calx-beta 25. 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) TAATAATAATGAAAGAAAACA 0.343000 52 15 0 0 1 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 91795 91795 + RNA SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrGL000211.1:91795G>A uc003bnz.1 + 6 c.1151G>A FLJ43315_uc003boa.3_Non-coding_Transcript Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. CAATTTGTATGTTGGATAGTG 0.383000 23 5 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6138607 6138607 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:6138607C>T uc001qnn.1 - 21 3118 c.2868G>A c.(2866-2868)gtG>gtA p.V956V VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 956 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GGCCAGACTCCACCACCTCAA 0.567000 59 31 0 0 1 0 0 DGKZ 8525 broad.mit.edu 37 11 46391094 46391094 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:46391094C>T uc001ncn.1 + 5 1184 c.1059C>T c.(1057-1059)gtC>gtT p.V353V DGKZ_uc001nch.2_Silent_p.V181V|DGKZ_uc010rgq.2_Silent_p.V170V|DGKZ_uc010rgr.2_Silent_p.V169V|DGKZ_uc001ncj.2_Silent_p.V131V|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Silent_p.V164V|DGKZ_uc001ncl.2_Silent_p.V165V|DGKZ_uc009yky.1_Silent_p.V165V|DGKZ_uc010rgs.1_Silent_p.V165V NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA. 353 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CCAGGAATGTCCGCGAGGTAA 0.587000 OREG0020942 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 11 0 0 1 0 0 ADH1A 124 broad.mit.edu 37 4 100205667 100205667 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:100205667C>T uc003hur.2 - 4 570 c.456G>A c.(454-456)gtG>gtA p.V152V LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR NM_000667 NP_000658 P07327 ADH1A_HUMAN Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA. 152 ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) TTTCATCCACCACTGTGTACT 0.522000 72 27 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179637892 179637892 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:179637892C>T uc021vsy.1 - 32 8024 c.7799G>A c.(7798-7800)gGa>gAa p.G2600E TTN_uc021vsz.1_Missense_Mutation_p.G2554E|TTN_uc021vta.1_Missense_Mutation_p.G2554E|TTN_uc021vtb.1_Missense_Mutation_p.G2554E|TTN_uc002unb.2_Missense_Mutation_p.G2600E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2600 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P2600S(1) 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) TGTGTATTTTCCTTCATCATC 0.313000 42 22 0 0 1 0 0 ANKRD5 63926 broad.mit.edu 37 20 10025081 10025081 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:10025081G>A uc002wno.3 + 4 979 c.586G>A c.(586-588)Ggg>Agg p.G196R LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.G196R|ANKRD5_uc010gbz.3_Missense_Mutation_p.G7R NM_022096 NP_942093 Q9NU02 ANKR5_HUMAN Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA. 196 calcium ion binding p.G196G(1) breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 37 GTCAAGAGAAGGGGTAGTGGA 0.443000 126 42 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49221845 49221845 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:49221845G>A uc001ngy.3 - 2 634 c.373C>T c.(373-375)Ccc>Tcc p.P125S FOLH1_uc009yly.3_Missense_Mutation_p.P110S|FOLH1_uc009ylz.3_Missense_Mutation_p.P110S|FOLH1_uc001ngz.3_Missense_Mutation_p.P125S|FOLH1_uc009yma.3_Intron|FOLH1_uc001nha.3_Missense_Mutation_p.P110S NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 125 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) ATGTAGTTGGGATGAGTCTTA 0.338000 11 5 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159283655 159283655 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:159283655G>A uc010piu.2 - 0 795 c.795C>T c.(793-795)tcC>tcT p.S265S NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) GGGAACTCTGGGACTTAGGCT 0.532000 105 53 0 0 1 0 0 CNTN1 1272 broad.mit.edu 37 12 41337930 41337930 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:41337930C>T uc001rmm.1 + 13 1754 c.1641C>T c.(1639-1641)atC>atT p.I547I CNTN1_uc009zjy.2_Silent_p.I547I|CNTN1_uc001rmn.1_Silent_p.I536I|CNTN1_uc001rmo.3_Silent_p.I547I NM_001843 NP_001834 Q12860 CNTN1_HUMAN Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA. 547 Ig-like C2-type 6. Notch signaling pathway|axon guidance|cell adhesion anchored to membrane|membrane fraction|plasma membrane p.I547I(2) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GCTATGTGATCGATTTTAACA 0.408000 59 14 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431315 56431315 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:56431315G>A uc010rjm.2 + 0 154 c.154G>A c.(154-156)Gac>Aac p.D52N OR8U8_uc001nit.2_Intron NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA. 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 GATTACAACAGACACTCAGCT 0.473000 245 53 0 0 1 0 0 ADRM1 11047 broad.mit.edu 37 20 60881720 60881720 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:60881720G>A uc002ycn.3 + 4 551 c.471G>A c.(469-471)caG>caA p.Q157Q ADRM1_uc002yco.3_Silent_p.Q157Q|ADRM1_uc002ycp.1_Non-coding_Transcript NM_007002 NP_783163 Q16186 ADRM1_HUMAN Homo sapiens adhesion regulating molecule 1 (ADRM1), transcript variant 1, mRNA. 157 Gly-rich. proteasome assembly|transcription elongation from RNA polymerase II promoter cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex endopeptidase activator activity|protease binding|proteasome binding p.Q157K(1) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1) 5 Breast(26;7.76e-09) BRCA - Breast invasive adenocarcinoma(19;2.51e-06) GTGGCCTGCAGAGCCTGCTGG 0.682000 8 3 0 0 1 0 0 INPP4A 3631 broad.mit.edu 37 2 99156043 99156043 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:99156043C>T uc002syy.3 + 9 1116 c.723C>T c.(721-723)aaC>aaT p.N241N INPP4A_uc010yvj.1_Silent_p.N241N|INPP4A_uc010yvk.2_Silent_p.N241N|INPP4A_uc002syx.3_Silent_p.N241N|INPP4A_uc010fik.3_Intron NM_001134224 NP_001127696 Q96PE3 INP4A_HUMAN Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA. 241 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 CTGATGGTAACCATTTGCGGA 0.577000 65 14 0 0 1 0 0 GALC 2581 broad.mit.edu 37 14 88442785 88442785 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:88442785G>A uc001xvt.3 - 6 776 c.669C>T c.(667-669)atC>atT p.I223I GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.I200I|GALC_uc010tvx.2_Silent_p.I197I|GALC_uc010tvz.1_Silent_p.I167I|GALC_uc001xvu.2_Silent_p.I223I NM_000153 NP_000144 P54803 GALC_HUMAN Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA. 223 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CACTTGCTATGATTTTCACTC 0.378000 40 19 0 0 1 0 0 TM7SF3 51768 broad.mit.edu 37 12 27127142 27127142 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:27127142A>G uc010sjl.2 - 11 1707 c.1469T>C c.(1468-1470)gTa>gCa p.V490A NM_016551 NP_057635 Q9NS93 TM7S3_HUMAN Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA. 490 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Colorectal(261;0.0847) CATGCCCCATACTGCCAGGAT 0.393000 43 22 0 0 1 0 0 SLC18B1 116843 broad.mit.edu 37 6 133100506 133100506 + Silent SNP G T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:133100506G>T uc003qdw.1 - 6 848 c.696C>A c.(694-696)atC>atA p.I232I SLC18B1_uc010kgd.1_Non-coding_Transcript|SLC18B1_uc011eco.1_Silent_p.I106I NM_052831 NP_439896 Q6NT16 CF192_HUMAN Homo sapiens chromosome 6 open reading frame 192 (C6orf192), mRNA. 232 transmembrane transport integral to membrane TGGGTAAAGCGATCAGTTTCC 0.378000 42 35 1.4065e-29 1.43596e-29 1 1 0 UBE4B 10277 broad.mit.edu 37 1 10228260 10228260 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:10228260C>T uc021ogc.1 + 24 4106 c.3418C>T c.(3418-3420)Ctg>Ttg p.L1140L UBE4B_uc001aqs.4_Silent_p.L1089L|UBE4B_uc001aqr.4_Silent_p.L960L|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.L544L|UBE4B_uc001aqu.3_5'Flank NM_001105562 NP_001099032 O95155 UBE4B_HUMAN Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA. 1089 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) TTACCTCGCCCTGGCCACCGA 0.582000 38 11 0 0 1 0 0 AGPS 8540 broad.mit.edu 37 2 178372732 178372732 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:178372732C>T uc002ull.2 + 15 1627 c.1580C>T c.(1579-1581)tCt>tTt p.S527F AGPS_uc010zfb.1_Missense_Mutation_p.S437F NM_003659 NP_003650 O00116 ADAS_HUMAN Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA. 527 ether lipid biosynthetic process peroxisomal matrix|peroxisomal membrane|plasma membrane alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358) TTAGGAGAATCTTTTGAGACT 0.323000 83 20 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9073507 9073507 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9073507G>A uc002mkp.3 - 2 14143 c.13939C>T c.(13939-13941)Cca>Tca p.P4647S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4649 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 GCAGGAGTTGGTATGAATGTT 0.443000 71 26 0 0 1 0 0 OR4A47 403253 broad.mit.edu 37 11 48510994 48510994 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:48510994G>A uc010rhx.2 + 0 650 c.650G>A c.(649-651)gGt>gAt p.G217D NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2) 29 ATCTCTTATGGTGTCATCTTG 0.463000 97 29 0 0 1 0 0 LOC644936 644936 broad.mit.edu 37 5 79595783 79595783 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:79595783G>A uc010jai.3 - 0 515 c.374C>T c.(373-375)tCc>tTc p.S125F Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA. CTTCATGATGGAGTTGAAGGT 0.512000 68 19 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102567566 102567566 + Splice_Site SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:102567566C>T uc001phd.1 - 5 643 c.620_splice c.e5-1 p.G207_splice NM_022122 NP_071405 Q9H306 MMP27_HUMAN Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA. 207 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CAAGTTGAATCCTTGATAATA 0.403000 36 6 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21120489 21120489 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:21120489C>T uc001iqi.3 - 14 1870 c.1473G>A c.(1471-1473)gaG>gaA p.E491E NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 491 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 TAATTTCAGTCTCCAGATCTC 0.428000 46 4 0 0 1 0 0 ATP5J2-PTCD1 100526740 broad.mit.edu 37 7 99032606 99032606 + Missense_Mutation SNP T A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:99032606T>A uc011kiw.2 - 2 467 c.407A>T c.(406-408)gAg>gTg p.E136V ATP5J2-PTCD1_uc003uqh.3_Missense_Mutation_p.E87V NM_001198879 NP_001185808 B4DJ38 B4DJ38_HUMAN Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA. 136 CCCAAAACTCTCCTCCTCCTC 0.602000 105 40 0 0 1 0 0 IL9R 3581 broad.mit.edu 37 X 155239662 155239662 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:155239662G>A uc004fnv.1 + 8 1333 c.1154G>A c.(1153-1155)gGg>gAg p.G385E IL9R_uc004fnu.1_3'UTR NM_002186 NP_002177 Q01113 IL9R_HUMAN Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA. 385 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) AGGCTCCCGGGGAACCTGAGC 0.652000 53 10 0 0 1 0 0 GLB1L2 89944 broad.mit.edu 37 11 134217268 134217268 + Missense_Mutation SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:134217268T>C uc001qhp.3 + 4 687 c.499T>C c.(499-501)Ttc>Ctc p.F167L GLB1L2_uc009zdg.1_Non-coding_Transcript NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA. 167 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TTACAAGGGCTTCACCGAAGC 0.507000 252 53 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111693857 111693857 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:111693857C>T uc003puy.4 - 12 6042 c.5701G>A c.(5701-5703)Gag>Aag p.E1901K REV3L_uc003pux.4_Missense_Mutation_p.E1823K|REV3L_uc003puz.4_Missense_Mutation_p.E1823K NM_002912 NP_002903 O60673 DPOLZ_HUMAN Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA. 1901 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TAAATAGTCTCAGACAGGTCA 0.423000 DNA polymerases (catalytic subunits) 83 56 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178436548 178436548 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:178436548G>A uc001glq.3 + 16 4434 c.3670G>A c.(3670-3672)Gat>Aat p.D1224N RASAL2_uc001glr.3_Missense_Mutation_p.D1083N|RASAL2_uc009wxc.3_Missense_Mutation_p.D597N NM_170692 NP_733793 Q9UJF2 NGAP_HUMAN Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA. 1083 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 GAAAATAATTGATGCACAGGT 0.428000 52 29 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218990 130218990 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:130218990G>A uc004evz.3 + 6 1252 c.907G>A c.(907-909)Gat>Aat p.D303N ARHGAP36_uc004ewa.3_Missense_Mutation_p.D291N|ARHGAP36_uc004ewb.3_Missense_Mutation_p.D272N|ARHGAP36_uc004ewc.3_Missense_Mutation_p.D167N NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA. 303 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TGACATGAAGGATTCTCTGCT 0.468000 34 59 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144943626 144943626 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:144943626C>T uc003zaa.1 - 0 3809 c.3796G>A c.(3796-3798)Gtg>Atg p.V1266M NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 1266 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCATCCCTCACGGCCTGGGCG 0.687000 23 20 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18258346 18258346 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:18258346C>T uc002nhz.4 + 25 3306 c.3306C>T c.(3304-3306)tcC>tcT p.S1102S NM_015016 NP_055831 O60307 MAST3_HUMAN Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA. 1102 Ser-rich. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 CACTGTCATCCAGTGAGAGCC 0.652000 9 4 0 0 1 0 0 PRIM2 5558 broad.mit.edu 37 6 57372336 57372336 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:57372336C>T uc003pdx.3 + 7 829 c.742C>T c.(742-744)Cct>Tct p.P248S NM_000947 NP_000938 P49643 PRI2_HUMAN Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA. 248 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) AAGACTTCAGCCTCTGCTCAA 0.418000 66 5 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3227866 3227866 + Missense_Mutation SNP C T T rs149129110 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:3227866C>T uc004crg.4 - 6 8535 c.8378G>A c.(8377-8379)gGa>gAa p.G2793E NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2793 Ig-like C2-type 12. 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) GGTCAGTGATCCCTGGGGGTG 0.502000 38 4 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91739007 91739007 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:91739007C>T uc010aty.3 - 29 6203 c.6049G>A c.(6049-6051)Gat>Aat p.D2017N CCDC88C_uc001xzj.3_Missense_Mutation_p.D541N|CCDC88C_uc001xzi.3_Missense_Mutation_p.D467N NM_001080414 NP_001073883 Q9P219 DAPLE_HUMAN Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA. 2017 Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation cytoplasm|insoluble fraction PDZ domain binding|microtubule binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) GTCTGCGGATCCCCGCCGGGC 0.647000 102 22 0 0 1 0 0 PPP6C 5537 broad.mit.edu 37 9 127912080 127912080 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:127912080G>A uc010mwv.3 - 7 1122 c.901C>T c.(901-903)Cgt>Tgt p.R301C PPP6C_uc004bpg.4_Missense_Mutation_p.R264C|PPP6C_uc010mww.3_Missense_Mutation_p.R242C|PPP6C_uc011lzr.2_Missense_Mutation_p.R117C NM_001123355 NP_001116827 O00743 PPP6_HUMAN Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA. 264 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity p.R264C(3)|p.T301T(2)|p.R301C(1) NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 TTTCCACAACGATAGCAGTAA 0.403000 32 21 0 0 1 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150439439 150439439 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:150439439G>A uc022apw.1 + 5 964 c.824G>A c.(823-825)gGa>gAa p.G275E GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G71E NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. GTGAAAACAGGAACATGGAAC 0.567000 63 52 0 0 1 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71606154 71606154 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:71606154C>T uc004agu.3 + 14 1906 c.1601C>T c.(1600-1602)tCt>tTt p.S534F PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Non-coding_Transcript NM_003558 NP_003549 O14986 PI51B_HUMAN Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA. 534 endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) GACAATGCTTCTGTGCTTGAC 0.443000 31 25 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668305 53668305 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:53668305G>A uc010eqm.1 - 3 1538 c.1438C>T c.(1438-1440)Cat>Tat p.H480Y NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN Homo sapiens zinc finger protein 665 (ZNF665), mRNA. 415 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TCTCCAGAATGAATTCCCCGA 0.418000 120 24 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167160770 167160770 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:167160770C>T uc010fpl.3 - 5 1007 c.666G>A c.(664-666)ttG>ttA p.L222L SCN9A_uc002udr.1_Silent_p.L93L|SCN9A_uc002uds.1_Intron|SCN9A_uc002udt.1_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 222 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) AAATAGTTTTCAAAGCTCTCA 0.348000 35 19 0 0 1 0 0 PRKCB 5579 broad.mit.edu 37 16 24166055 24166055 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:24166055C>T uc002dmd.3 + 9 1313 c.1116C>T c.(1114-1116)atC>atT p.I372I PRKCB_uc002dme.3_Silent_p.I372I NM_212535 NP_997700 P05771 KPCB_HUMAN Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA. 372 Protein kinase. B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CTGTGAAGATCCTGAAGAAGG 0.557000 44 14 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14724592 14724592 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:14724592C>T uc003byy.3 + 2 824 c.372C>T c.(370-372)gcC>gcT p.A124A C3orf20_uc003byz.3_Silent_p.A2A|C3orf20_uc003bza.3_Silent_p.A2A|C3orf20_uc003byx.2_Silent_p.A124A NM_032137 NP_001171887 Q8ND61 CC020_HUMAN Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA. 124 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 CCACCATGGCCCGTCAGGTGC 0.622000 16 7 0 0 1 0 0 RNF148 378925 broad.mit.edu 37 7 122341965 122341965 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:122341965G>A uc003vkk.1 - 0 1057 c.840C>T c.(838-840)ttC>ttT p.F280F CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron|RNF133_uc003vkj.1_5'Flank NM_198085 NP_932351 Q8N7C7 RN148_HUMAN Homo sapiens ring finger protein 148 (RNF148), mRNA. 280 integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 ATGCCTTATGGAAAAAATGTT 0.398000 73 50 0 0 1 0 0 DHX9 1660 broad.mit.edu 37 1 182853892 182853892 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:182853892C>T uc001gpr.3 + 26 3580 c.3405C>T c.(3403-3405)atC>atT p.I1135I DHX9_uc001gps.3_Silent_p.I921I|DHX9_uc001gpt.3_Silent_p.I414I|DHX9_uc009wyd.3_Silent_p.I100I NM_001357 NP_001348 Q08211 DHX9_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA. 1135 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 TGAACATGATCCGTCAGATCT 0.483000 89 45 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38600990 38600990 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:38600990G>A uc002ohk.3 + 7 2766 c.2257G>A c.(2257-2259)Gtc>Atc p.V753I NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 753 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity p.R752Q(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CATTGTCCGAGTCCACAACCC 0.597000 42 11 0 0 1 0 0 C22orf23 84645 broad.mit.edu 37 22 38340502 38340502 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:38340502C>T uc003auj.2 - 5 713 c.504G>A c.(502-504)agG>agA p.R168R C22orf23_uc021wpl.1_Silent_p.R147R NM_032561 NP_115950 Q9BZE7 EVG1_HUMAN Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA. 168 endometrium(3)|kidney(2)|large_intestine(7) 12 Melanoma(58;0.045) GGAATTCTTTCCTCTCCTGGA 0.547000 65 26 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233349799 233349799 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:233349799G>A uc002vsv.2 - 3 1063 c.858C>T c.(856-858)atC>atT p.I286I ECEL1_uc010fya.1_Silent_p.I286I|ECEL1_uc010fyb.1_5'UTR NM_004826 NP_004817 O95672 ECEL1_HUMAN Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA. 286 I -> V (in Ref. 1; CAA76113). neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 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;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) ATGCTGCCAGGATCTGCACCA 0.652000 20 15 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328367 80328367 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:80328367G>A uc003hlu.3 - 0 1006 c.988C>T c.(988-990)Cgt>Tgt p.R330C NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 330 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 CTTAGCCAACGAATAACAGCA 0.428000 143 53 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28956913 28956913 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:28956913C>T uc002kwr.2 + 0 174 c.39C>T c.(37-39)atC>atT p.I13I DSG4_uc002kwq.2_Silent_p.I13I NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 13 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GCCTTTTGATCATTCTAATGG 0.423000 38 20 0 0 1 0 0 VPS4B 9525 broad.mit.edu 37 18 61064475 61064475 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:61064475C>T uc002lix.3 - 8 1144 c.884G>A c.(883-885)cGa>cAa p.R295Q VPS4B_uc010dpx.3_Missense_Mutation_p.R295Q|VPS4B_uc010dpy.3_Missense_Mutation_p.R177Q|VPS4B_uc010dpz.1_Missense_Mutation_p.R177Q NM_004869 NP_004860 O75351 VPS4B_HUMAN Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA. 295 cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane ATP binding|ATPase activity, coupled|protein C-terminus binding breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 13 AATATAAATTCGTTTCTCAAA 0.388000 43 19 0 0 1 0 0 SULT2B1 6820 broad.mit.edu 37 19 49079245 49079245 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:49079245C>T uc002pjl.3 + 1 200 c.119C>T c.(118-120)cCc>cTc p.P40L SULT2B1_uc002pjm.3_Missense_Mutation_p.P25L NM_177973 NP_814444 O00204 ST2B1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA. 40 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 11 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) GTCCCCTTCCCCGTCGGCCTG 0.592000 91 38 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92732551 92732551 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:92732551C>T uc003umf.3 - 2 3130 c.2860G>A c.(2860-2862)Gaa>Aaa p.E954K SAMD9_uc003umg.3_Missense_Mutation_p.E954K|SAMD9_uc022ahg.1_Missense_Mutation_p.E954K NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 954 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TCAAATTTTTCTGTCCCCCAG 0.398000 67 35 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56620451 56620451 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:56620451A>G uc002iwq.2 - 0 1283 c.1097T>C c.(1096-1098)gTt>gCt p.V366A 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. 366 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) CTCTGGAGTAACAAACATGGA 0.502000 61 16 0 0 1 0 0 ELMO2 63916 broad.mit.edu 37 20 45003884 45003884 + Silent SNP C A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:45003884C>A uc010zxr.1 - 13 1302 c.1092G>T c.(1090-1092)ctG>ctT p.L364L ELMO2_uc010zxq.1_Silent_p.L84L|ELMO2_uc002xrs.1_Silent_p.L99L|ELMO2_uc002xrt.1_Silent_p.L352L|ELMO2_uc002xru.1_Silent_p.L352L|ELMO2_uc010zxs.1_Silent_p.L169L|ELMO2_uc002xrv.1_Silent_p.L71L|ELMO2_uc002xrw.3_Silent_p.L169L|ELMO2_uc002xrx.1_Silent_p.L352L NM_182764 NP_877496 Q96JJ3 ELMO2_HUMAN Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA. 352 ELMO. apoptosis|cell chemotaxis|phagocytosis cytoskeleton|cytosol|membrane SH3 domain binding|lyase activity|receptor tyrosine kinase binding breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1) 16 Myeloproliferative disorder(115;0.0122) CGGTAAATCCCAGCATTTTGT 0.527000 74 25 6.32553e-13 6.39552e-13 1 1 0 NOX3 50508 broad.mit.edu 37 6 155764442 155764442 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:155764442C>T uc003qqm.3 - 4 554 c.451G>A c.(451-453)Gag>Aag p.E151K NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN Homo sapiens NADPH oxidase 3 (NOX3), mRNA. 151 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) AGGTAGCTCTCGTTAGGGGTG 0.562000 16 15 0 0 1 0 0 MTERFD2 130916 broad.mit.edu 37 2 242038948 242038948 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:242038948A>G uc002wan.1 - 0 963 c.470T>C c.(469-471)aTt>aCt p.I157T MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.I128T NM_182501 NP_872307 Q7Z6M4 MTER2_HUMAN Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA. 128 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) AAATTCTGAAATGATGTCCAG 0.448000 118 64 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6714080 6714080 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:6714080G>A uc002mfm.3 - 6 758 c.696C>T c.(694-696)ttC>ttT p.F232F NM_000064 NP_000055 P01024 CO3_HUMAN Homo sapiens complement component 3 (C3), mRNA. 232 G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTATGACCTCGAAACTGGGCA 0.622000 70 14 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6094739 6094739 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:6094739G>A uc001qnn.1 - 38 7141 c.6891C>T c.(6889-6891)ccC>ccT p.P2297P VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 2297 VWFC 1. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTTTGGCCGTGGGGCAGGGCT 0.652000 17 7 0 0 1 0 0 LAMA5 3911 broad.mit.edu 37 20 60885750 60885750 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:60885750G>A uc002ycq.3 - 74 10484 c.10417C>T c.(10417-10419)Ccg>Tcg p.P3473S LAMA5_uc021wfw.1_Missense_Mutation_p.P3473S NM_005560 NP_005551 O15230 LAMA5_HUMAN Homo sapiens laminin, alpha 5 (LAMA5), mRNA. 3473 Laminin G-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCTGGCCGGGAGGCCGCCC 0.711000 16 6 0 0 1 0 0 MSLN 10232 broad.mit.edu 37 16 816934 816934 + Missense_Mutation SNP G A A rs34926266 byFrequency TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:816934G>A uc002cjw.2 + 13 1558 c.1447G>A c.(1447-1449)Gtc>Atc p.V483I MSLN_uc002cju.1_Missense_Mutation_p.V475I|MSLN_uc002cjt.1_Missense_Mutation_p.V475I|MSLN_uc010brd.1_Missense_Mutation_p.V474I|MSLN_uc002cjy.1_Missense_Mutation_p.V140I NM_013404 NP_037536 Q13421 MSLN_HUMAN Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA. 483 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) GCAGCTGGACGTCCTCTATCC 0.637000 77 5 0 0 1 0 0 TIMELESS 8914 broad.mit.edu 37 12 56823910 56823910 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:56823910G>A uc001slf.2 - 9 1233 c.1065C>T c.(1063-1065)aaC>aaT p.N355N TIMELESS_uc001slg.2_Silent_p.N354N NM_003920 NP_003911 Q9UNS1 TIM_HUMAN Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA. 355 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 CCATGAGCCGGTTGTAACAGT 0.517000 35 14 0 0 1 0 0 FES 2242 broad.mit.edu 37 15 91430422 91430422 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:91430422G>A uc002bpv.3 + 4 609 c.490G>A c.(490-492)Gac>Aac p.D164N FES_uc010uqj.2_Missense_Mutation_p.D106N|FES_uc010uqk.2_Missense_Mutation_p.D146N|FES_uc002bpx.3_Missense_Mutation_p.D164N|FES_uc002bpy.3_Missense_Mutation_p.D106N|FES_uc010bny.3_Missense_Mutation_p.D106N NM_002005 NP_001996 P07332 FES_HUMAN Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA. 164 Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GGCAGACAAGGACCGTGACAA 0.607000 74 23 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125867302 125867302 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:125867302G>A uc009zbw.3 - 11 2290 c.2162C>T c.(2161-2163)cCa>cTa p.P721L CDON_uc001qdb.4_Missense_Mutation_p.P98L|CDON_uc001qdc.4_Missense_Mutation_p.P721L NM_001243597 NP_001230526 Q4KMG0 CDON_HUMAN Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA. 721 Fibronectin type-III 2. cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) TGGTGCCTCTGGAACTAAACA 0.438000 16 4 0 0 1 0 0 CFC1B 653275 broad.mit.edu 37 2 131356259 131356259 + Nonsense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:131356259C>T uc002tro.1 - 2 594 c.203G>A c.(202-204)tGg>tAg p.W68* NM_001079530 NP_115934 P0CG36 CFC1B_HUMAN Homo sapiens cripto, FRL-1, cryptic family 1B (CFC1B), mRNA. 68 gastrulation extracellular region Colorectal(110;0.1) CTCCGGCCCCCAGCCCTCGGC 0.627000 98 11 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228482060 228482060 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:228482060G>A uc009xez.1 + 41 11383 c.11339G>A c.(11338-11340)gGg>gAg p.G3780E OBSCN_uc001hsn.3_Missense_Mutation_p.G3780E|OBSCN_uc001hsq.1_Missense_Mutation_p.G1036E NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 3780 Ig-like 38. 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) GTGGATGCCGGGGAGTACTCG 0.602000 105 51 0 0 1 0 0 DDX11L11 0 broad.mit.edu 37 12 92000 92000 + Missense_Mutation SNP A T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:92000A>T uc010sdi.1 - 1 338 c.310T>A c.(310-312)Ttg>Atg p.L104M DDX11L11_uc010sdj.1_Non-coding_Transcript SubName: Full=DEAD/H box polypeptide 11 like 11; GGTCCTGGCAACACTCTGGAC 0.572000 7 3 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2830821 2830821 + Splice_Site SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:2830821C>T uc022aqr.1 - 57 9131 c.8741_splice c.e57-1 p.G2914_splice CSMD1_uc011kwj.2_Splice_Site_p.G2244_splice|CSMD1_uc010lrg.3_Splice_Site_p.G925_splice NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 2915 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) AGGATTATTTCCTATTGAAAA 0.413000 203 66 0 0 1 0 0 ADCY5 111 broad.mit.edu 37 3 123010131 123010131 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:123010131G>A uc003egh.2 - 17 3156 c.3156C>T c.(3154-3156)ttC>ttT p.F1052F ADCY5_uc021xdd.1_Silent_p.F702F|ADCY5_uc003egg.2_Silent_p.F710F NM_183357 NP_899200 O95622 ADCY5_HUMAN Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA. 1052 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|adenylate cyclase activity|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CGCGGGCCAGGAAGTGAGCGG 0.597000 59 26 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44083434 44083434 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:44083434G>A uc003bdy.2 - 10 1373 c.1059C>T c.(1057-1059)atC>atT p.I353I EFCAB6_uc003bdz.2_Silent_p.I201I|EFCAB6_uc010gzi.2_Silent_p.I201I|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Silent_p.I350I NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 353 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) GCTTCCAATTGATTTTAGTGG 0.318000 39 29 0 0 1 0 0 AK308867 0 broad.mit.edu 37 16 70268158 70268158 + RNA SNP A C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:70268158A>C uc010cfp.1 - 2 c.257T>G Homo sapiens cDNA, FLJ98908. TTCTTCATTAAAACAGCTACT 0.333000 17 3 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230341907 230341907 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:230341907C>T uc002vpv.3 - 6 1357 c.1210G>A c.(1210-1212)Gga>Aga p.G404R DNER_uc010zly.1_Missense_Mutation_p.G132R NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 404 EGF-like 5. Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity p.G404R(2) NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) CATGTTGCTCCATTTCTGCAT 0.358000 40 23 0 0 1 0 0 HEATR8 374977 broad.mit.edu 37 1 55118723 55118723 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:55118723G>A uc010ooe.1 + 2 448 c.124G>A c.(124-126)Gct>Act p.A42T HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Missense_Mutation_p.A42T|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.A42T|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA. 42 integral to membrane binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CCCAGACATGGCTCAGGTGCC 0.572000 81 37 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70963633 70963633 + Missense_Mutation SNP G C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:70963633G>C uc001swb.4 - 11 2832 c.2802C>G c.(2800-2802)gaC>gaG p.D934E PTPRB_uc010sto.2_Missense_Mutation_p.D934E|PTPRB_uc010stp.2_Missense_Mutation_p.D844E|PTPRB_uc001swc.4_Missense_Mutation_p.D1152E|PTPRB_uc001swa.4_Missense_Mutation_p.D1064E|PTPRB_uc001swd.4_Missense_Mutation_p.D1151E|PTPRB_uc009zrr.2_Missense_Mutation_p.D1031E NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 934 Fibronectin type-III 11. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGGAATCAACGTCTCCCCCAC 0.478000 41 23 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701919 56701919 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:56701919C>T uc010ygh.2 - 3 765 c.765G>A c.(763-765)aaG>aaA p.K255K NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA. 255 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TCTGGGGTTCCTTCCCCTCCT 0.488000 87 38 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153665827 153665827 + Splice_Site SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:153665827G>A uc001fcs.4 + 22 3545 c.3124_splice c.e22-1 p.G1042_splice NPR1_uc010pdz.2_Splice_Site_p.G788_splice|NPR1_uc010pea.2_Splice_Site_p.G520_splice NM_000906 NP_000897 P16066 ANPRA_HUMAN Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA. 1042 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) TTTCCCTCCAGGGCAAAGGCA 0.607000 95 26 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10130575 10130575 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:10130575C>T uc003buw.3 + 35 3702 c.3624C>T c.(3622-3624)gtC>gtT p.V1208V FANCD2_uc003bux.1_Silent_p.V1208V|FANCD2_uc003buy.1_Silent_p.V1208V|FANCD2_uc010hcw.1_Non-coding_Transcript|C3orf24_uc003buz.3_Intron NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA. 1208 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) GTGTTGGTGTCCCAGAACTGA 0.443000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 123 47 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220504278 220504278 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:220504278C>T uc002vmo.4 + 19 3388 c.3179C>T c.(3178-3180)tCc>tTc p.S1060F SLC4A3_uc002vmp.4_Missense_Mutation_p.S1033F|SLC4A3_uc010fwm.3_Missense_Mutation_p.S583F NM_201574 NP_963868 P48751 B3A3_HUMAN Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA. 1033 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCATTGGCTCCCTGGGGGGG 0.652000 58 5 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103347260 103347260 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:103347260C>T uc001dum.3 - 64 5387 c.5069G>A c.(5068-5070)gGa>gAa p.G1690E COL11A1_uc001duk.3_Missense_Mutation_p.G874E|COL11A1_uc001dul.3_Missense_Mutation_p.G1678E|COL11A1_uc001dun.3_Missense_Mutation_p.G1639E|COL11A1_uc009weh.3_Missense_Mutation_p.G1562E NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1678 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TACCAGTTTTCCCCTCTTAAA 0.358000 46 16 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10426437 10426437 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:10426437C>T uc010coi.3 - 38 5771 c.5643G>A c.(5641-5643)gtG>gtA p.V1881V AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.V1881V|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1881 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TATAAGATTTCACTTTTGCCT 0.323000 56 27 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61048386 61048386 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:61048386G>A uc001nra.3 - 7 1388 c.1109C>T c.(1108-1110)tCa>tTa p.S370L VWCE_uc001nrb.3_Non-coding_Transcript NM_152718 NP_689931 Q96DN2 VWCE_HUMAN Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA. 370 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GCCCCTGGGTGAGGAAGGGGT 0.677000 4 2 0 0 1 0 0 MRPS35 60488 broad.mit.edu 37 12 27890496 27890496 + Nonsense_Mutation SNP C G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:27890496C>G uc001rih.3 + 6 728 c.657C>G c.(655-657)taC>taG p.Y219* MRPS35_uc001rii.3_Missense_Mutation_p.R183G NM_021821 NP_068593 P82673 RT35_HUMAN Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 219 DNA damage response, detection of DNA damage mitochondrial small ribosomal subunit breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1) 6 Lung SC(9;0.0873) GGCAGAATTACGATTATGCAG 0.323000 77 33 0 0 1 0 0 ADPRH 141 broad.mit.edu 37 3 119306546 119306546 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:119306546C>T uc003ecs.3 + 4 1193 c.895C>T c.(895-897)Cat>Tat p.H299Y ADPRH_uc010hqv.3_Missense_Mutation_p.H299Y|ADPRH_uc011bjb.2_Missense_Mutation_p.H192Y|ADPRH_uc003ect.3_Missense_Mutation_p.H299Y NM_001125 NP_001116 P54922 ADPRH_HUMAN Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA. 299 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding breast(1)|kidney(1)|lung(10)|ovary(1) 13 Lung NSC(201;0.0977) GBM - Glioblastoma multiforme(114;0.23) AGCCTTTTTCCATGGTGGAGA 0.537000 66 37 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183032982 183032982 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:183032982G>A uc002uos.3 - 14 1684 c.1600C>T c.(1600-1602)Cat>Tat p.H534Y PDE1A_uc010zfp.1_Intron|PDE1A_uc002uoq.1_Intron|PDE1A_uc010zfq.1_Intron|PDE1A_uc002uor.3_Missense_Mutation_p.H518Y|PDE1A_uc002uou.3_Missense_Mutation_p.H500Y NM_001003683 NP_001003683 P54750 PDE1A_HUMAN Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA. 534 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) GTTTACTGATGAATAAACTCA 0.338000 48 22 0 0 1 0 0 CAMK4 814 broad.mit.edu 37 5 110710562 110710562 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:110710562C>T uc003kpf.3 + 2 490 c.255C>T c.(253-255)atC>atT p.I85I CAMK4_uc010jbv.3_Intron NM_001744 NP_001735 Q16566 KCC4_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA. 85 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ACAAAAAAATCGTAAGAACTG 0.378000 57 16 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196800945 196800945 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:196800945G>A uc001gtn.3 + 5 923 c.809G>A c.(808-810)cGa>cAa p.R270Q CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.R174Q NM_002113 NP_002104 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 1 (CFHR1), mRNA. 270 complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GTAATATCCCGAGAAATTATG 0.328000 122 17 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50897070 50897070 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:50897070C>T uc001zyt.4 - 20 3263 c.2981G>A c.(2980-2982)gGa>gAa p.G994E TRPM7_uc010bew.2_Missense_Mutation_p.G994E|TRPM7_uc001zyu.3_Missense_Mutation_p.G552E NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA. 994 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) TACCATTTTTCCAATCATCAT 0.299000 43 9 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25505414 25505414 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:25505414G>A uc002rgc.3 - 3 601 c.344C>T c.(343-345)cCa>cTa p.P115L DNMT3A_uc002rgd.3_Missense_Mutation_p.P115L|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgf.3_Missense_Mutation_p.P115L NM_022552 NP_783328 Q9Y6K1 DNM3A_HUMAN Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA. 115 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCTCTGCTGGGGCCCCGCC 0.657000 """Mis, F, N, S""" AML 35 14 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18390671 18390671 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:18390671C>T uc003cbh.3 - 10 4018 c.2283G>A c.(2281-2283)ttG>ttA p.L761L SATB1_uc003cbi.3_Silent_p.L793L|SATB1_uc003cbj.3_Silent_p.L761L NM_002971 NP_002962 Q01826 SATB1_HUMAN Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA. 761 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter PML body|nuclear matrix double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 CTCAGTCTTTCAAATCAGTAT 0.358000 97 43 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51759245 51759245 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:51759245C>T uc001ryk.2 - 3 1008 c.783G>A c.(781-783)caG>caA p.Q261Q GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.Q261Q NM_007210 NP_009141 Q8NCL4 GALT6_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA. 261 Catalytic subdomain A. protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 GCACCTCCGCCTGTGCCACGC 0.672000 59 5 0 0 1 0 0 URM1 81605 broad.mit.edu 37 9 131151609 131151609 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:131151609C>T uc011may.1 + 3 320 c.258C>T c.(256-258)atC>atT p.I86I URM1_uc004buv.2_Intron NM_001135947 NP_001129419 Q9BTM9 URM1_HUMAN Homo sapiens ubiquitin related modifier 1 (URM1), transcript variant 2, mRNA. 0 tRNA thio-modification|tRNA wobble uridine modification protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 5 TGGGGGACATCCCTCCCCCAG 0.597000 47 24 0 0 1 0 0 SELENBP1 8991 broad.mit.edu 37 1 151337513 151337513 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:151337513C>T uc010pcy.2 - 10 1401 c.1271G>A c.(1270-1272)cGg>cAg p.R424Q SELENBP1_uc001exx.3_Missense_Mutation_p.R382Q|SELENBP1_uc010pcz.2_Missense_Mutation_p.R320Q|SELENBP1_uc001eya.3_Missense_Mutation_p.R318Q NM_003944 NP_003935 Q13228 SBP1_HUMAN Homo sapiens selenium binding protein 1 (SELENBP1), mRNA. 382 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCCAGCCACCCGTTTTCCCTT 0.577000 11 4 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304766 10304766 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:10304766C>T uc002gmm.2 - 23 3029 c.2934G>A c.(2932-2934)gtG>gtA p.V978V AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 978 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 TAAGATTTTTCACCTACAAAG 0.413000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 205 70 0 0 1 0 0 PPP4R4 57718 broad.mit.edu 37 14 94741724 94741724 + Silent SNP G T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:94741724G>T uc001ycs.1 + 23 2617 c.2463G>T c.(2461-2463)cgG>cgT p.R821R NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 821 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 ATTCATTCCGGACTCGTAATG 0.418000 209 27 5.77227e-19 5.87678e-19 1 1 0 SAA1 6288 broad.mit.edu 37 11 18288502 18288502 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:18288502C>T uc021qem.1 + 2 169 c.68C>T c.(67-69)tCg>tTg p.S23L SAA1_uc021qen.1_Missense_Mutation_p.S23L|SAA1_uc021qeo.1_Missense_Mutation_p.S23L NM_001178006 NP_954630 P02735 SAA_HUMAN Homo sapiens serum amyloid A1 (SAA1), transcript variant 3, mRNA. 23 acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion high-density lipoprotein particle G-protein-coupled receptor binding endometrium(1)|large_intestine(3)|lung(2)|stomach(3) 9 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) AGCTTCTTTTCGTTCCTTGGC 0.498000 48 13 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55926911 55926911 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:55926911C>T uc010rja.2 - 0 883 c.883G>A c.(883-885)Gaa>Aaa p.E295K NM_001004058 NP_001004058 Q8NH50 OR8K5_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA. 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TTCACCTCTTCGTTTCTTAAG 0.303000 41 17 0 0 1 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409763 56409763 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:56409763C>T uc001njb.1 - 0 153 c.153G>A c.(151-153)atG>atA p.M51I OR8U8_uc001nit.2_Intron NM_001002925 NP_001002925 Q8NGF4 O5AP2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA. 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 TCAATACAATCATCCCCAAAT 0.423000 71 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9056776 9056776 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9056776G>A uc002mkp.3 - 2 30874 c.30670C>T c.(30670-30672)Cca>Tca p.P10224S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10226 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 ATGTCCACTGGAATTTCAGTA 0.458000 61 13 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42807886 42807886 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:42807886C>T uc010goq.3 + 3 574 c.228C>T c.(226-228)atC>atT p.I76I MX1_uc002yzh.3_Silent_p.I76I|MX1_uc002yzi.3_Silent_p.I76I NM_001178046 NP_002453 P20591 MX1_HUMAN Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA. 76 induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) TCGCCGTCATCGGGGACCAGA 0.607000 93 21 0 0 1 0 0 TSSK1B 83942 broad.mit.edu 37 5 112770528 112770528 + Missense_Mutation SNP G T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:112770528G>T uc003kqm.2 - 0 201 c.9C>A c.(7-9)gaC>gaA p.D3E MCC_uc003kql.4_Intron NM_032028 NP_114417 Q9BXA7 TSSK1_HUMAN Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA. 3 cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.D3D(1) large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) GGACAGCAGCGTCATCCATGG 0.547000 34 16 1.37285e-15 1.38997e-15 1 1 0 ABCC3 8714 broad.mit.edu 37 17 48741355 48741355 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:48741355G>A uc002isl.3 + 9 1301 c.1221G>A c.(1219-1221)ggG>ggA p.G407G ABCC3_uc002isk.4_Silent_p.G407G|ABCC3_uc002ism.3_Missense_Mutation_p.G120R NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 407 ABC transmembrane type-1 1. 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) CCACTGTGGGGGAAATTGTCA 0.572000 78 16 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3783123 3783123 + Splice_Site SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:3783123C>T uc002lyt.3 - 7 1076 c.676_splice c.e7+1 p.A226_splice MATK_uc002lyv.3_Splice_Site_p.A227_splice|MATK_uc002lyu.3_Splice_Site_p.A185_splice|MATK_uc010dtq.3_Splice_Site_p.A226_splice NM_139355 NP_647611 P42679 MATK_HUMAN Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA. 226 cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GCGTCCCCTACCCCTGGCCAG 0.657000 56 10 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44489600 44489600 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:44489600G>A uc003cnf.2 - 7 1911 c.1563C>T c.(1561-1563)gcC>gcT p.A521A ZNF445_uc011azv.1_Silent_p.A509A|ZNF445_uc011azw.1_Silent_p.A521A NM_181489 NP_852466 P59923 ZN445_HUMAN Homo sapiens zinc finger protein 445 (ZNF445), mRNA. 521 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) TCCACCGGAAGGCTTTCCCAC 0.468000 109 28 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121500244 121500244 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:121500244C>T uc001pxx.3 + 47 6746 c.6617C>T c.(6616-6618)tCa>tTa p.S2206L SORL1_uc010rzp.1_Missense_Mutation_p.S1052L|SORL1_uc010rzq.1_Missense_Mutation_p.S821L NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 2206 cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ACTGGATTTTCAGATGACGTC 0.398000 64 18 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71508306 71508306 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:71508306G>A uc011caw.1 + 8 1444 c.1163G>A c.(1162-1164)aGa>aAa p.R388K NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN Homo sapiens enamelin (ENAM), mRNA. 388 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) CCTACTTCAAGAGGCAATTAT 0.468000 175 55 0 0 1 0 0 DNAJB8 165721 broad.mit.edu 37 3 128181666 128181666 + Silent SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:128181666A>G uc003ekk.1 - 2 2084 c.423T>C c.(421-423)ttT>ttC p.F141F DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Silent_p.F141F NM_153330 NP_699161 Q8NHS0 DNJB8_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA. 141 protein folding heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.177) TGAAGGCCGGAAATTCTCCAA 0.607000 33 13 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43222803 43222803 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:43222803G>A uc003ouq.1 + 6 872 c.593G>A c.(592-594)gGg>gAg p.G198E NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA. 198 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) AATGTGGCCGGGTTTCGAGGA 0.597000 36 17 0 0 1 0 0 SEPT6 23157 broad.mit.edu 37 X 118786967 118786967 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:118786967G>A uc004erv.3 - 3 643 c.378C>T c.(376-378)ttC>ttT p.F126F SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.F126F|SEPT6_uc004ert.3_Silent_p.F126F|SEPT6_uc004eru.3_Silent_p.F126F|SEPT6_uc004erw.3_Silent_p.F68F|SEPT6_uc011mtv.1_Silent_p.F68F|SEPT6_uc011mtw.1_Silent_p.F156F NM_015129 NP_055944 Q14141 SEPT6_HUMAN Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA. 126 cell cycle|cytokinesis|interspecies interaction between organisms cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle GTP binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3) 17 GGTAGGCCTCGAATTGTGCAT 0.502000 T MLL AML 15 28 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924612 105924612 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:105924612G>A uc002tcq.3 - 1 231 c.147C>T c.(145-147)ttC>ttT p.F49F TGFBRAP1_uc002tcr.4_Silent_p.F49F NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA. 49 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CCTCCAACAGGAAGTGGTAGA 0.607000 34 8 0 0 1 0 0 SSTR2 6752 broad.mit.edu 37 17 71166097 71166097 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:71166097C>T uc002jje.3 + 1 999 c.639C>T c.(637-639)ttC>ttT p.F213F SSTR2_uc021ucm.1_Silent_p.F213F NM_001050 NP_001041 P30874 SSR2_HUMAN Homo sapiens somatostatin receptor 2 (SSTR2), mRNA. 213 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) TCTACACTTTCATTCTGGGGT 0.527000 89 28 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138658408 138658408 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:138658408G>A uc003ldw.3 + 12 2303 c.1900G>A c.(1900-1902)Gat>Aat p.D634N MATR3_uc003ldt.3_Missense_Mutation_p.D296N|MATR3_uc003ldu.3_Missense_Mutation_p.D634N|MATR3_uc010jfb.3_Missense_Mutation_p.D634N|MATR3_uc003ldx.3_Missense_Mutation_p.D634N|MATR3_uc003ldy.3_Missense_Mutation_p.D311N|MATR3_uc003ldz.3_Missense_Mutation_p.D634N|MATR3_uc011czb.2_Missense_Mutation_p.D346N|MATR3_uc003leb.3_Missense_Mutation_p.D296N|MATR3_uc003lec.3_Missense_Mutation_p.D311N NM_018834 NP_954659 P43243 MATR3_HUMAN Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA. 634 nuclear inner membrane|nuclear matrix RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) GTCCGGTGAAGATGGTGAGAA 0.428000 40 25 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107013088 107013088 + RNA SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:107013088G>A uc021ser.1 - 218 c.8788C>T Parts of antibodies, mostly variable regions. TGCTTCTAATGAAACCTACCC 0.507000 92 42 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34076675 34076675 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:34076675G>A uc001bxm.1 - 40 6486 c.6309C>T c.(6307-6309)tcC>tcT p.S2103S CSMD2_uc001bxn.1_Silent_p.S2063S|CSMD2_uc001bxo.1_Silent_p.S976S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2063 integral to membrane|plasma membrane protein binding p.V2103V(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCCGATTCTGGGAGTGGTCGC 0.567000 22 12 0 0 1 0 0 EMILIN3 90187 broad.mit.edu 37 20 39990196 39990196 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:39990196C>T uc002xjy.1 - 3 2237 c.2013G>A c.(2011-2013)ggG>ggA p.G671G NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA. 671 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) AGCGGCTCAGCCCACTGGCCA 0.652000 19 7 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28194115 28194115 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:28194115G>A uc003adj.3 - 0 3372 c.2417C>T c.(2416-2418)tCg>tTg p.S806L NM_002430 NP_002421 Q10571 MN1_HUMAN Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA. 806 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GGAGCCCAGCGAGAGCGCGCC 0.672000 T ETV6 """AML, meningioma""" 41 17 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52321172 52321172 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:52321172G>A uc003xqu.4 - 16 3113 c.3012C>T c.(3010-3012)atC>atT p.I1004I PXDNL_uc003xqt.4_Non-coding_Transcript NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 1004 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) CCGCGCCCACGATCTTCCTGG 0.622000 11 8 0 0 1 0 0 DDX19B 11269 broad.mit.edu 37 16 70359509 70359509 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:70359509C>T uc002eyo.3 + 6 654 c.525C>T c.(523-525)gcC>gcT p.A175A DDX19B_uc002eys.3_Intron|DDX19B_uc010vlv.2_Silent_p.A149A|DDX19B_uc010vlw.2_Silent_p.A66A|DDX19B_uc002eyp.3_Silent_p.A144A|DDX19B_uc002eyq.3_Silent_p.A66A|DDX19B_uc010vlx.2_Silent_p.A24A|LOC100506083_uc002eyt.3_Intron NM_007242 NP_001014449 Q9UMR2 DD19B_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA. 175 Helicase ATP-binding. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|RNA binding|protein binding p.A175T(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) ATGAGCTCGCCCTCCAAACAG 0.418000 146 65 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138376876 138376876 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:138376876C>T uc022bpi.1 + 0 520 c.520C>T c.(520-522)Ccg>Tcg p.P174S PPP1R26_uc004cfr.1_Missense_Mutation_p.P174S NM_014811 NP_055626 Q5T8A7 K0649_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA. 174 nucleolus protein binding TAGATGTAAGCCGGAACCGGC 0.687000 25 18 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201356167 201356167 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:201356167G>A uc001gwm.3 - 2 557 c.322C>T c.(322-324)Ccc>Tcc p.P108S LAD1_uc009wzu.1_Missense_Mutation_p.P130S NM_005558 NP_005549 O00515 LAD1_HUMAN Homo sapiens ladinin 1 (LAD1), mRNA. 108 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 TCCTGGATGGGGGCCTGTGCA 0.627000 41 15 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31025826 31025826 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:31025826C>T uc002nsu.1 + 2 2381 c.2243C>T c.(2242-2244)tCg>tTg p.S748L ZNF536_uc010edd.1_Missense_Mutation_p.S748L NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 748 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) AGCCTGGGCTCGGCCATGAAG 0.572000 120 21 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106815518 106815518 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:106815518G>A uc003ymd.3 + 7 3231 c.3208G>A c.(3208-3210)Gaa>Aaa p.E1070K ZFPM2_uc011lhs.2_Missense_Mutation_p.E801K NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 1070 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) TCCTCAGCACGAAGACGACCA 0.478000 34 13 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27687523 27687523 + Nonsense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:27687523C>T uc001itu.2 - 3 2122 c.2004G>A c.(2002-2004)tgG>tgA p.W668* NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 668 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 CATCTTTATCCCAGTAGTCAA 0.308000 27 24 0 0 1 0 0 FOXRED2 80020 broad.mit.edu 37 22 36901955 36901955 + Missense_Mutation SNP A C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:36901955A>C uc003apn.4 - 0 623 c.515T>G c.(514-516)gTg>gGg p.V172G FOXRED2_uc003apo.4_Missense_Mutation_p.V172G|FOXRED2_uc003app.4_Missense_Mutation_p.V172G NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA. 172 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GCACTGATGCACCTGGCCCTT 0.587000 81 26 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70332853 70332854 + Missense_Mutation DNP GG AA AA TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:70332853_70332854GG>AA uc001oqc.3 - 20 3458_3459 c.3346_3347CC>TT c.(3346-3348)ccc>TTc p.P1116F SHANK2_uc010rqn.2_Missense_Mutation_p.P592F|SHANK2_uc001opz.3_Missense_Mutation_p.P587F|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 803 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GCTGCTCTCGGGCCCCTGGGCT 0.693000 31 13 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54307551 54307551 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:54307551G>A uc021smr.1 + 0 2451 c.2451G>A c.(2449-2451)caG>caA p.Q817Q UNC13C_uc021sms.1_Silent_p.Q817Q NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 817 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) AAAGCACACAGAGTCTGAGTG 0.433000 49 16 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142459645 142459645 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:142459645G>A uc003wak.2 + 2 238 c.221G>A c.(220-222)gGa>gAa p.G74E TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.G14E NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 74 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) GTGAGACTGGGAGAGCACAAC 0.567000 253 40 0 0 1 0 0 TMEM206 55248 broad.mit.edu 37 1 212553313 212553314 + Missense_Mutation DNP GG AA AA rs138060998 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:212553313_212553314GG>AA uc010pte.2 - 5 912_913 c.744_745CC>TT c.(742-747)ttccgc>ttTTgc p.R249C TMEM206_uc001hjc.4_Missense_Mutation_p.R188C NM_001198862 NP_001185791 Q9H813 TM206_HUMAN Homo sapiens transmembrane protein 206 (TMEM206), transcript variant 1, mRNA. 188 integral to membrane p.E249Q(1) breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 17 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) TTGTTCAGGCGGAACTGGAGGA 0.525000 113 57 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10914379 10914379 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:10914379G>A uc002yip.1 - 20 1708 c.1340C>T c.(1339-1341)tCa>tTa p.S447L TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.S429L|TPTE_uc002yir.1_Missense_Mutation_p.S409L|TPTE_uc010gkv.1_Missense_Mutation_p.S309L NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 447 C2 tensin-type. 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) TTTTCCTAATGAAATAGTGGA 0.328000 81 7 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197404430 197404430 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:197404430A>G uc001gtz.3 + 8 3646 c.3437A>G c.(3436-3438)aAc>aGc p.N1146S CRB1_uc010poz.2_Missense_Mutation_p.N1122S|CRB1_uc009wza.3_Missense_Mutation_p.N1034S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.N627S|CRB1_uc001gub.1_Missense_Mutation_p.N795S NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1146 EGF-like 15. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TGCAACTCCAACCCCTGTTTG 0.428000 105 22 0 0 1 0 0 ACTL9 284382 broad.mit.edu 37 19 8808469 8808469 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:8808469C>T uc002mkl.2 - 0 704 c.583G>A c.(583-585)Gtg>Atg p.V195M NM_178525 NP_848620 Q8TC94 ACTL9_HUMAN Homo sapiens actin-like 9 (ACTL9), mRNA. 195 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 GTGTCCACCACCAGCCCGCTG 0.662000 41 13 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140753756 140753756 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:140753756C>T uc003ljy.2 + 0 106 c.106C>T c.(106-108)Ccc>Tcc p.P36S 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_uc011dau.2_Missense_Mutation_p.P36S NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 36 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) CTACTCTATTCCCGAGGAGCT 0.662000 39 9 0 0 1 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55350936 55350936 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:55350936G>A uc002qhm.1 + 3 470 c.424G>A c.(424-426)Gga>Aga p.G142R KIR3DL2_uc010yfj.2_Missense_Mutation_p.G135R|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.G142R|KIR3DL2_uc002qhn.1_Intron NM_012314 NP_036446 P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA. 237 Ig-like C2-type 2. cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GGTTCAGGCAGGAGAGAATGT 0.577000 74 77 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 705456 705456 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:705456C>T uc002cii.1 + 14 1760 c.1706C>T c.(1705-1707)tCg>tTg p.S569L WDR90_uc002cig.1_Missense_Mutation_p.S569L|WDR90_uc002cih.1_Missense_Mutation_p.S570L|WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.S96L|WDR90_uc002cil.1_5'Flank|WDR90_uc002cim.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN Homo sapiens WD repeat domain 90 (WDR90), mRNA. 569 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CCGGAGCCCTCGGCTGCCATG 0.721000 6 4 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45833946 45833946 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:45833946C>T uc010gpt.1 + 19 3235 c.3135C>T c.(3133-3135)atC>atT p.I1045I TRPM2_uc002zet.1_Silent_p.I1045I|TRPM2_uc002zeu.1_Silent_p.I1045I|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.I1045I|TRPM2_uc002zex.1_Silent_p.I831I|TRPM2_uc002zey.1_Silent_p.I558I NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 1045 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ACCTCCTCATCGCCATGTTCA 0.657000 284 91 0 0 1 0 0 CDC25C 995 broad.mit.edu 37 5 137622874 137622874 + Missense_Mutation SNP A C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:137622874A>C uc003lcs.1 - 10 1444 c.1244T>G c.(1243-1245)cTg>cGg p.L415R CDC25C_uc003lcp.1_Missense_Mutation_p.L337R|CDC25C_uc003lcq.1_Missense_Mutation_p.L264R|CDC25C_uc003lcr.1_Missense_Mutation_p.L337R|CDC25C_uc011cyp.1_Missense_Mutation_p.L354R NM_001790 NP_001781 P30307 MPIP3_HUMAN Homo sapiens cell division cycle 25 homolog C (S. pombe) (CDC25C), transcript variant 1, mRNA. 337 Rhodanese. DNA replication|G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm WW domain binding|protein tyrosine phosphatase activity endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GTGTCCTCCCAGATACTCATA 0.473000 59 15 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140373685 140373685 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:140373685C>T uc003vvy.1 + 0 733 c.555C>T c.(553-555)ttC>ttT p.F185F ADCK2_uc003vvz.3_Silent_p.F185F NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA. 185 integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) CTGAGCGCTTCCTTCGGCAGG 0.597000 115 32 0 0 1 0 0 MAPK8IP2 23542 broad.mit.edu 37 22 51043424 51043425 + Missense_Mutation DNP AC TT TT TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:51043424_51043425AC>TT uc003bmx.3 + 5 1811_1812 c.1694_1695AC>TT c.(1693-1695)gac>gTT p.D565V MAPK8IP2_uc003bmy.3_Missense_Mutation_p.D538V|MAPK8IP2_uc011asc.2_5'Flank NM_012324 NP_036456 Q13387 JIP2_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA. 566 MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior cytoplasm|postsynaptic density MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 7 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ACCTCGCCGGACAGCCCTGACC 0.663000 45 9 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38320340 38320340 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:38320340G>A uc010abx.3 - 2 866 c.631C>T c.(631-633)Ctg>Ttg p.L211L TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.L211L|TRPC4_uc001uws.3_Silent_p.L211L|TRPC4_uc010tey.2_Silent_p.L211L|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Silent_p.L211L NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 211 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCGCTTGACAGTGCAATGAGA 0.493000 76 18 0 0 1 0 0 DIP2A 23181 broad.mit.edu 37 21 47969758 47969758 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:47969758C>T uc002zjo.2 + 21 2780 c.2597C>T c.(2596-2598)tCg>tTg p.S866L DIP2A_uc011afy.1_Missense_Mutation_p.S802L|DIP2A_uc011afz.1_Missense_Mutation_p.S862L|DIP2A_uc002zjn.3_Missense_Mutation_p.S866L NM_015151 NP_055966 Q14689 DIP2A_HUMAN Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA. 866 multicellular organismal development nucleus catalytic activity|transcription factor binding cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CCGGATGCCTCGGAGGAGGAC 0.642000 101 6 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58208535 58208535 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:58208535G>A uc001vhq.1 + 0 2747 c.1855G>A c.(1855-1857)Gag>Aag p.E619K PCDH17_uc010aec.1_Missense_Mutation_p.E619K NM_001040429 NP_001035519 O14917 PCD17_HUMAN Homo sapiens protocadherin 17 (PCDH17), mRNA. 619 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CGACTTCGGCGAGAGCGGGCG 0.662000 62 16 0 0 1 0 0 PCYT2 5833 broad.mit.edu 37 17 79865706 79865706 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:79865706G>A uc002kcf.2 - 4 544 c.435C>T c.(433-435)tcC>tcT p.S145S PCYT2_uc010wvb.2_Silent_p.S113S|PCYT2_uc002kce.2_Silent_p.S67S|PCYT2_uc002kch.2_Silent_p.S145S|PCYT2_uc002kci.2_Silent_p.S86S|PCYT2_uc010wvc.2_Silent_p.S67S NM_002861 NP_002852 Q99447 PCY2_HUMAN Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA. 145 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) GGTCTGTGGTGGACACCCCTT 0.642000 43 13 0 0 1 0 0 CYBASC3 220002 broad.mit.edu 37 11 61121274 61121274 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:61121274G>A uc010rlh.2 - 4 1206 c.426C>T c.(424-426)gtC>gtT p.V142V CYBASC3_uc001nrf.4_Silent_p.V125V|CYBASC3_uc001nrg.3_Silent_p.V125V|CYBASC3_uc009ynn.3_Intron|CYBASC3_uc009yno.2_Silent_p.V125V NM_001161454 NP_705839 Q8NBI2 CYAC3_HUMAN Homo sapiens cytochrome b, ascorbate dependent 3 (CYBASC3), transcript variant 1, mRNA. 125 Cytochrome b561. electron transport chain|transport integral to membrane|late endosome membrane|lysosomal membrane metal ion binding|oxidoreductase activity kidney(1)|large_intestine(3)|lung(2) 6 CGAAGAGGAAGACAGTGGTGA 0.547000 34 11 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56319229 56319229 + Missense_Mutation SNP G A A rs141366900 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:56319229G>A uc010ygf.2 - 5 2704 c.1993C>T c.(1993-1995)Cgc>Tgc p.R665C NLRP11_uc002qlz.3_Intron|NLRP11_uc002qmb.3_Missense_Mutation_p.R566C|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 665 ATP binding p.R665C(2) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TTGAGTGTGCGAAGTTTACAG 0.423000 173 22 0 0 1 0 0 NDUFB2 4708 broad.mit.edu 37 7 140404690 140404690 + Missense_Mutation SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:140404690T>C uc003vwa.3 + 2 338 c.274T>C c.(274-276)Tgg>Cgg p.W92R NDUFB2_uc010lnl.3_Non-coding_Transcript|NDUFB2_uc022amu.1_5'Flank NM_004546 NP_004537 O95178 NDUB2_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa (NDUFB2), nuclear gene encoding mitochondrial protein, mRNA. 92 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1) 10 Melanoma(164;0.00956) NADH(DB00157) TCCTTCCCAGTGGACAGATGA 0.393000 106 29 0 0 1 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107450511 107450511 + Silent SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:107450511A>G uc002tdq.3 - 2 1154 c.1035T>C c.(1033-1035)aaT>aaC p.N345N ST6GAL2_uc002tdr.3_Silent_p.N345N|ST6GAL2_uc002tds.3_Silent_p.N345N NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 345 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TTACCTGCGAATTAATGATGC 0.398000 111 21 0 0 1 0 0 SCARB1 949 broad.mit.edu 37 12 125302130 125302130 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:125302130G>A uc001ugp.3 - 1 503 c.250C>T c.(250-252)Ccg>Tcg p.P84S SCARB1_uc001ugm.4_Missense_Mutation_p.P84S|SCARB1_uc001ugn.4_Missense_Mutation_p.P84S|SCARB1_uc010tbd.2_Missense_Mutation_p.P84S|SCARB1_uc001ugo.4_Missense_Mutation_p.P84S NM_001082959 NP_001076428 Q8WTV0 SCRB1_HUMAN Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA. 84 adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity p.P84P(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) CGCACCTGCGGCTTCTCGCCC 0.617000 54 21 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117898627 117898627 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:117898627G>A uc003pxu.3 - 2 712 c.458C>T c.(457-459)cCc>cTc p.P153L ROS1_uc003pxv.3_Intron|ROS1_uc010keg.2_5'Flank NM_020399 NP_065132 P08922 ROS_HUMAN Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA. 0 Fibronectin type-III 1. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) CTCCACAGAGGGGCCAGACTT 0.308000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 14 15 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107746996 107746996 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:107746996G>A uc010ljo.1 - 6 697 c.613C>T c.(613-615)Ccc>Tcc p.P205S LAMB4_uc003vey.2_Missense_Mutation_p.P205S NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 205 Laminin N-terminal. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 TCAAAACTGGGATCCAAAACT 0.269000 45 8 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121758652 121758652 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:121758652C>T uc003ksw.1 + 3 426 c.220C>T c.(220-222)Cgc>Tgc p.R74C SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.R74C|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.R121C|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Intron|SNCAIP_uc010jcx.1_Missense_Mutation_p.R74C NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 74 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) CAGTAAGTTCCGCCCAGTGAA 0.443000 65 25 0 0 1 0 0 OR1D2 4991 broad.mit.edu 37 17 2995901 2995901 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:2995901G>A uc010vrb.2 - 0 390 c.390C>T c.(388-390)ctC>ctT p.L130L NM_002548 NP_002539 P34982 OR1D2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA. 130 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 TGGTGTAGTGGAGGGGGCAGC 0.547000 106 38 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20039425 20039425 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:20039425C>T uc001umd.3 - 9 857 c.646G>A c.(646-648)Gga>Aga p.G216R TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.G105R|TPTE2_uc001ume.3_Missense_Mutation_p.G139R|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 216 Phosphatase tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.P215T(1) NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AGGTCAAATCCATCCCTTGTG 0.308000 165 27 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42682973 42682973 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:42682973G>A uc010ggo.3 + 4 726 c.686G>A c.(685-687)gGa>gAa p.G229E TOX2_uc002xle.4_Missense_Mutation_p.G187E|TOX2_uc010ggp.3_Missense_Mutation_p.G187E|TOX2_uc002xlf.4_Missense_Mutation_p.G238E|TOX2_uc010zwk.2_Missense_Mutation_p.G107E NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 238 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GCCGACCCAGGAAAAAAGGCC 0.537000 24 10 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140720533 140720533 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:140720533C>T uc003ljk.2 + 0 2180 c.1995C>T c.(1993-1995)gcC>gcT p.A665A PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.A665A NM_018915 NP_061738 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA. 667 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) TGGCCGTGGCCGACAGGATCC 0.682000 92 36 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121658222 121658222 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:121658222G>A uc003eep.2 + 19 1941 c.1788G>A c.(1786-1788)tgG>tgA p.W596* SLC15A2_uc011bjn.1_Nonsense_Mutation_p.W565* NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 596 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) TTCAGGCCTGGAAGATTGAAG 0.448000 81 36 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144854558 144854558 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:144854558G>A uc021ouh.1 - 41 7214 c.6912C>T c.(6910-6912)aaC>aaT p.N2304N NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.N2304N|PDE4DIP_uc001elx.4_Silent_p.N2198N|PDE4DIP_uc001elv.4_Silent_p.N1311N NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 2304 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CCTTCTGCTGGTTGGCGTTCT 0.512000 T PDGFRB MPD 333 34 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7847091 7847091 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:7847091G>A uc010rbg.2 - 0 429 c.429C>T c.(427-429)atC>atT p.I143I NM_153445 NP_703146 Q8WZ94 OR5P3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA. 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TGCCCACTAAGATGATGCAGA 0.517000 81 22 0 0 1 0 0 PRSS1 5644 broad.mit.edu 37 7 142457350 142457350 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:142457350G>A uc003wak.2 + 0 32 c.15G>A c.(13-15)ctG>ctA p.L5L TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Silent_p.L5L|PRSS1_uc003wam.2_5'Flank NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 5 digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity p.L4F(1)|p.L4L(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ATCCACTCCTGATCCTTACCT 0.567000 169 38 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058026 152058026 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:152058026C>T uc001ezo.1 - 2 2197 c.2132G>A c.(2131-2133)gGa>gAa p.G711E NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA. 711 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TGTTGCTCTTCCTTTCTCTTC 0.443000 198 61 0 0 1 0 0 TM7SF2 7108 broad.mit.edu 37 11 64880878 64880878 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:64880878G>A uc001ocv.3 + 1 1151 c.554G>A c.(553-555)gGg>gAg p.G185E TM7SF2_uc001oct.3_Missense_Mutation_p.G164E|TM7SF2_uc010rny.2_Missense_Mutation_p.G48E|TM7SF2_uc001ocu.3_Missense_Mutation_p.G164E|BC104003_uc009yqb.1_5'Flank NM_003273 NP_003264 O76062 ERG24_HUMAN Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA. 164 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane delta14-sterol reductase activity lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCACCTGGGGGGAACTCAGGT 0.582000 OREG0021072 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 99 18 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10435402 10435402 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:10435402C>T uc001aqx.4 + 47 5581 c.5379C>T c.(5377-5379)gcC>gcT p.A1793A KIF1B_uc001aqw.4_Silent_p.A1747A|KIF1B_uc001aqy.3_Silent_p.A1767A|KIF1B_uc001aqz.3_Silent_p.A1793A|KIF1B_uc001ara.3_Silent_p.A1753A|KIF1B_uc001arb.3_Silent_p.A1779A NM_015074 NP_055889 O60333 KIF1B_HUMAN Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA. 1793 PH. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GGTTGTATGCCTTCAACCCAC 0.458000 118 49 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33014668 33014668 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:33014668G>A uc001wrq.3 + 3 979 c.809G>A c.(808-810)cGa>cAa p.R270Q AKAP6_uc010aml.3_Missense_Mutation_p.R267Q NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 270 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAGCTTATCCGAAGTGTTGGT 0.468000 112 20 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66942342 66942342 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:66942342C>T uc002eql.3 - 17 2637 c.2443G>A c.(2443-2445)Gac>Aac p.D815N CDH16_uc010cdy.3_Missense_Mutation_p.D793N|CDH16_uc021tjx.1_Missense_Mutation_p.D776N|CDH16_uc002eqm.3_Missense_Mutation_p.D718N NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 815 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.K814N(1) endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TGATCCGGGTCCTTCTTCCTT 0.587000 79 14 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179577224 179577224 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:179577224G>A uc021vsy.1 - 91 23918 c.23693C>T c.(23692-23694)tCg>tTg p.S7898L TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4559L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8825 Ig-like 61. 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) CCAGGTAACCGAAATGGGAGG 0.423000 37 21 0 0 1 0 0 C17orf66 256957 broad.mit.edu 37 17 34195737 34195737 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:34195737C>T uc002hke.1 - 0 159 c.10G>A c.(10-12)Gaa>Aaa p.E4K C17orf66_uc010wck.1_Intron|C17orf66_uc010wcl.1_Missense_Mutation_p.E4K|C17orf66_uc010wcm.1_Intron NM_152781 NP_689994 A2RTY3 CQ066_HUMAN Homo sapiens chromosome 17 open reading frame 66 (C17orf66), mRNA. 4 binding p.Y3C(1) breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4) 38 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) GTTGATTTTTCATAGGCCATC 0.527000 55 13 0 0 1 0 0 ZNF736 728927 broad.mit.edu 37 7 63809491 63809491 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:63809491G>A uc011kdo.2 + 4 1572 c.1250G>A c.(1249-1251)aGa>aAa p.R417K NM_001170905 NP_001164376 B4DX44 ZN736_HUMAN Homo sapiens zinc finger protein 736 (ZNF736), mRNA. 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|stomach(1)|urinary_tract(1) 9 AGACATAAGAGAATTCATACT 0.383000 12 7 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23825111 23825111 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:23825111C>T uc003sws.4 + 17 2230 c.2163C>T c.(2161-2163)ctC>ctT p.L721L STK31_uc003swt.4_Silent_p.L698L|STK31_uc011jze.2_Silent_p.L721L|STK31_uc010kuq.3_Silent_p.L698L|STK31_uc003swv.1_5'Flank NM_031414 NP_116562 Q9BXU1 STK31_HUMAN Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA. 721 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 CTGGTGGTCTCCTTACAATGA 0.393000 147 49 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546576 11546576 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:11546576C>T uc010shk.1 - 2 471 c.436G>A c.(436-438)Gga>Aga p.G146R NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTTGCCTCCTTGTGGGGGT 0.582000 560 82 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40412184 40412184 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:40412184G>A uc002omp.4 - 6 3452 c.3444C>T c.(3442-3444)ggC>ggT p.G1148G NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1148 Cys-rich.|TIL 2. extracellular region protein binding p.G1148S(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACAGCGGGCAGCCGTAGGAAC 0.612000 42 5 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356304 40356304 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:40356304G>A uc003gva.1 + 4 1223 c.1207G>A c.(1207-1209)Gac>Aac p.D403N NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. 403 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity p.N402N(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) CTTAAAGAACGACCTGGGCTG 0.483000 46 36 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148768537 148768537 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:148768537G>A uc003wfh.2 - 3 1464 c.1327C>T c.(1327-1329)Cac>Tac p.H443Y ZNF786_uc011kuk.1_Missense_Mutation_p.H406Y|ZNF786_uc003wfi.2_Missense_Mutation_p.H357Y NM_152411 NP_689624 Q8N393 ZN786_HUMAN Homo sapiens zinc finger protein 786 (ZNF786), mRNA. 443 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) ACTCGAATGTGCTCCGTGAGT 0.632000 35 13 0 0 1 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627088 108627088 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:108627088G>A uc002tdv.3 + 8 1790 c.1514G>A c.(1513-1515)gGa>gAa p.G505E SLC5A7_uc010ywm.2_Missense_Mutation_p.G258E|SLC5A7_uc010fjj.3_Missense_Mutation_p.G505E|SLC5A7_uc010ywn.2_Missense_Mutation_p.G392E NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 505 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) TTTGAAAGTGGAACCTTGCCA 0.313000 59 23 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481834 142481834 + Silent SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:142481834T>C uc011ksq.2 + 3 596 c.513T>C c.(511-513)tgT>tgC p.C171C TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. AGGCTAAGTGTAAAGCCTCCT 0.512000 211 11 0 0 1 0 0 TBX15 6913 broad.mit.edu 37 1 119427481 119427481 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:119427481C>T uc001ehl.1 - 7 1680 c.1365G>A c.(1363-1365)ggG>ggA p.G455G TBX15_uc009whj.1_Silent_p.G279G NM_152380 NP_689593 Q96SF7 TBX15_HUMAN Homo sapiens T-box 15 (TBX15), mRNA. 561 nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5) 37 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TGTGCTCCATCCCTGACGGCA 0.547000 60 34 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228434484 228434484 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:228434484C>T uc009xez.1 + 12 4057 c.4013C>T c.(4012-4014)tCc>tTc p.S1338F OBSCN_uc001hsn.3_Missense_Mutation_p.S1338F NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 1338 Ig-like 13. 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) CAGCGGCTCTCCTTCCACCTG 0.592000 112 53 0 0 1 0 0 GPR65 8477 broad.mit.edu 37 14 88477563 88477563 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:88477563C>T uc021rxh.1 + 0 372 c.372C>T c.(370-372)ttC>ttT p.F124F GPR65_uc001xvv.3_Silent_p.F124F NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA. 124 actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1) 16 AGTTTTTTTTCCTAAGGACAA 0.418000 164 81 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216495 20216495 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:20216495G>A uc010tkt.2 + 0 909 c.909G>A c.(907-909)agG>agA p.R303R NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGAAGCTGAGGATAAAACCAT 0.388000 96 6 0 0 1 0 0 SLC27A2 11001 broad.mit.edu 37 15 50497524 50497524 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:50497524C>T uc001zxw.3 + 3 1168 c.936C>T c.(934-936)atC>atT p.I312I SLC27A2_uc010bes.3_Silent_p.I259I|SLC27A2_uc001zxx.3_Silent_p.I77I NM_003645 NP_003636 O14975 S27A2_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA. 312 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) TTCAGTATATCGGTGAACTGC 0.428000 125 50 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 396957 396957 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:396957G>A uc002cgp.2 - 1 458 c.69C>T c.(67-69)ccC>ccT p.P23P AXIN1_uc002cgq.2_Silent_p.P23P NM_003502 NP_003493 O15169 AXIN1_HUMAN Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA. 23 Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding p.P23S(2)|p.R22*(1) biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) CAGGCACTGGGGGTCGGGGAG 0.562000 59 18 0 0 1 0 0 EPT1 85465 broad.mit.edu 37 2 26609386 26609386 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:26609386C>T uc021veu.1 + 8 1224 c.1077C>T c.(1075-1077)atC>atT p.I359I EPT1_uc010eyl.1_Non-coding_Transcript NM_033505 Q9C0D9 EPT1_HUMAN Homo sapiens ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) (EPT1), mRNA. 359 phospholipid biosynthetic process integral to membrane ethanolaminephosphotransferase activity|metal ion binding TGGCCCACATCCATTATGGAG 0.428000 38 14 0 0 1 0 0 LOC649330 649330 broad.mit.edu 37 1 12907895 12907895 + Missense_Mutation SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:12907895T>C uc010obf.2 - 1 474 c.248A>G c.(247-249)aAc>aGc p.N83S LOC649330_uc009vno.2_Missense_Mutation_p.N83S NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 83 nucleic acid binding|nucleotide binding TGCAGCCAGGTTAATATCTAC 0.488000 198 58 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18691153 18691153 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:18691153C>T uc001rdt.3 + 23 3380 c.3264C>T c.(3262-3264)aaC>aaT p.N1088N PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.N1129N|PIK3C2G_uc010sic.2_Silent_p.N907N NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 1088 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GTGGGAAAAACCCACAGCATT 0.403000 77 26 0 0 1 0 0 RNPEP 6051 broad.mit.edu 37 1 201970536 201970536 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:201970536C>T uc001gxd.3 + 6 1266 c.1237C>T c.(1237-1239)Ccc>Tcc p.P413S RNPEP_uc001gxe.3_Missense_Mutation_p.P114S NM_020216 NP_064601 Q9H4A4 AMPB_HUMAN Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA. 413 leukotriene biosynthetic process epoxide hydrolase activity|zinc ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005) TAATGAGACCCCCTACGAGAA 0.493000 66 14 0 0 1 0 0 C2orf65 130951 broad.mit.edu 37 2 74842228 74842229 + Missense_Mutation DNP GG AA AA TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:74842228_74842229GG>AA uc002smy.3 - 2 405_406 c.288_289CC>TT c.(286-291)ctccgc>ctTTgc p.R97C C2orf65_uc010ysa.2_Missense_Mutation_p.R97C|C2orf65_uc002smz.2_Missense_Mutation_p.R97C NM_138804 NP_620159 Q8TC57 CB065_HUMAN Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA. 97 RNA processing|chromatin assembly|female gamete generation|spermatogenesis integral to membrane p.L96L(2) endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 21 TGTAACATGCGGAGTTCTGAGA 0.470000 122 31 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70514348 70514348 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:70514348C>T uc001vip.3 - 3 1632 c.838G>A c.(838-840)Gac>Aac p.D280N KLHL1_uc010thm.2_Missense_Mutation_p.D219N NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA. 280 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.E279*(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TCAATGGTGTCCTCTTTTAAT 0.383000 25 8 0 0 1 0 0 OR10H3 26532 broad.mit.edu 37 19 15852997 15852997 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:15852997G>A uc010xoq.2 + 0 795 c.795G>A c.(793-795)aaG>aaA p.K265K NM_013938 NP_039226 O60404 O10H3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA. 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 TCAAACCCAAGGGCCTCCATT 0.507000 161 26 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53242587 53242587 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:53242587G>A uc001sbc.1 - 0 192 c.128C>T c.(127-129)tCc>tTc p.S43F NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN Homo sapiens keratin 78 (KRT78), mRNA. 43 Gly-rich.|Head. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CCCCCCAAAGGAATTAAGGCT 0.672000 19 10 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50122723 50122723 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:50122723C>T uc010njr.2 - 19 2808 c.2764G>A c.(2764-2766)Gaa>Aaa p.E922K NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA. 922 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) GAGATGGTTTCTCCATCACAC 0.458000 19 22 0 0 1 0 0 CXXC5 51523 broad.mit.edu 37 5 139060139 139060139 + Missense_Mutation SNP G T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:139060139G>T uc010jfg.1 + 1 321 c.31G>T c.(31-33)Gcc>Tcc p.A11S CXXC5_uc003let.2_Missense_Mutation_p.A11S NM_016463 NP_057547 Q7LFL8 CXXC5_HUMAN Homo sapiens CXXC finger protein 5 (CXXC5), mRNA. 11 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCCAGGATGCCGgcggcag 0.687000 10 4 5.9392e-07 5.96367e-07 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1272390 1272390 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:1272390C>T uc001lta.3 + 30 14339 c.14280C>T c.(14278-14280)acC>acT p.T4760T NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 4760 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) CCCTGTGGACCACGTGGACCG 0.582000 74 17 0 0 1 0 0 USP22 23326 broad.mit.edu 37 17 20906359 20906359 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:20906359G>A uc002gym.4 - 12 1767 c.1563C>T c.(1561-1563)ttC>ttT p.F521F USP22_uc002gyn.4_Silent_p.F509F|USP22_uc002gyl.4_Silent_p.F416F NM_015276 NP_056091 Q9UPT9 UBP22_HUMAN Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA. 521 cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 CGTATTCCAGGAACTGTTTGT 0.532000 193 93 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872205 51872205 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:51872205C>T uc002xwo.3 + 1 3095 c.2208C>T c.(2206-2208)gtC>gtT p.V736V TSHZ2_uc021wex.1_Silent_p.V733V NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 736 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) ATCTCAATGTCATGGACAAGC 0.542000 57 25 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25144862 25144862 + RNA SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:25144862G>A uc001upm.3 + 3 c.403G>A Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 6 (TPTE2P6), non-coding RNA. GCCAGATAATGGAGCAGTGGT 0.408000 43 6 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58104641 58104641 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:58104641C>T uc003djj.2 + 18 2953 c.2788C>T c.(2788-2790)Cct>Tct p.P930S FLNB_uc010hne.2_Missense_Mutation_p.P930S|FLNB_uc003djk.2_Missense_Mutation_p.P930S|FLNB_uc010hnf.2_Missense_Mutation_p.P930S|FLNB_uc003djl.2_Missense_Mutation_p.P761S|FLNB_uc003djm.2_Missense_Mutation_p.P761S NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 930 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CGATCCCATCCCTAAAAGCCC 0.478000 91 43 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179432818 179432818 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:179432818G>A uc021vsy.1 - 274 70562 c.70337C>T c.(70336-70338)cCa>cTa p.P23446L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P17141L|TTN_uc021vta.1_Missense_Mutation_p.P17074L|TTN_uc021vtb.1_Missense_Mutation_p.P16949L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 24373 Fibronectin type-III 70. 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) ATTGTTGACTGGTTCATGCCA 0.443000 80 10 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170040 58170040 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:58170040G>A uc010rkf.2 - 0 843 c.843C>T c.(841-843)ccC>ccT p.P281P NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA. 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) GGTTCAGCATGGGGATGACCA 0.433000 85 17 0 0 1 0 0 CNTNAP3B 728577 broad.mit.edu 37 9 43828154 43828154 + Silent SNP T C C rs140150445 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:43828154T>C uc004ada.2 + 8 1820 c.1410T>C c.(1408-1410)gaT>gaC p.D470D CNTNAP3B_uc004acz.2_Non-coding_Transcript NM_001201380 NP_001188309 Q96NU0 CNT3B_HUMAN Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA. 470 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 TGGTGGTGGATGATGACACAG 0.488000 21 3 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110644384 110644384 + Missense_Mutation SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:110644384T>C uc004epd.3 - 2 954 c.782A>G c.(781-783)aAg>aGg p.K261R DCX_uc011msv.2_Missense_Mutation_p.K261R|DCX_uc004epe.3_Missense_Mutation_p.K180R|DCX_uc004epf.3_Missense_Mutation_p.K180R|DCX_uc004epg.3_Missense_Mutation_p.K180R NM_000555 NP_835366 O43602 DCX_HUMAN Homo sapiens doublecortin (DCX), transcript variant 1, mRNA. 261 Doublecortin 2. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 GGTAACCAGCTTGGGGCGCAC 0.532000 35 46 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119929368 119929368 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:119929368G>A uc001ehr.1 + 4 817 c.685G>A c.(685-687)Gat>Aat p.D229N HAO2_uc001ehq.1_Missense_Mutation_p.D229N NM_016527 NP_057611 Q9NYQ3 HAOX2_HUMAN Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA. 229 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GACAAAAGAGGATGCAGAGTT 0.458000 98 66 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41416186 41416186 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:41416186C>T uc002yyq.1 - 30 5654 c.5202G>A c.(5200-5202)agG>agA p.R1734R DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1734 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCTTGGCATTCCTCCTGGTGG 0.592000 24 9 0 0 1 0 0 RGNEF 64283 broad.mit.edu 37 5 73163924 73163924 + Splice_Site SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:73163924G>A uc010izf.3 + 20 2474 c.2298_splice c.e20-1 p.S766_splice RGNEF_uc011csq.2_Splice_Site_p.S766_splice|RGNEF_uc021yam.1_Splice_Site_p.S766_splice|RGNEF_uc011csr.2_Splice_Site_p.S453_splice NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA. 766 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) CTCTCTCCTAGCTTCAGGAGG 0.512000 13 7 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178548751 178548751 + Splice_Site SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:178548751C>T uc003mjw.3 - 21 3191 c.3089_splice c.e21-1 p.R1030_splice NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 1030 collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) TGAGATGTTTCCTAGAGGGAG 0.667000 142 41 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848616 73848616 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:73848616G>A uc003xzb.3 + 2 1614 c.1026G>A c.(1024-1026)ctG>ctA p.L342L NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 342 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TATTGTTTCTGGCCATGGGGA 0.473000 192 61 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205028255 205028255 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:205028255C>T uc001hbr.3 + 5 800 c.531C>T c.(529-531)atC>atT p.I177I CNTN2_uc001hbq.1_Silent_p.I68I|CNTN2_uc009xbi.3_Silent_p.I68I|CNTN2_uc001hbs.3_5'UTR NM_005076 NP_005067 Q02246 CNTN2_HUMAN Homo sapiens contactin 2 (axonal) (CNTN2), mRNA. 177 Ig-like C2-type 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAACTTCATCCCGACGGACG 0.587000 50 19 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432642 73432642 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:73432642C>T uc003dpl.1 - 9 3171 c.3075G>A c.(3073-3075)atG>atA p.M1025I PDZRN3_uc011bgh.1_Missense_Mutation_p.M682I|PDZRN3_uc010hoe.1_Missense_Mutation_p.M723I|PDZRN3_uc021xaq.1_Missense_Mutation_p.M318I|PDZRN3_uc011bgf.1_Missense_Mutation_p.M742I|PDZRN3_uc011bgg.1_Missense_Mutation_p.M745I NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA. 1025 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TCTTCTTCATCATCTTTTTGT 0.458000 302 102 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133636 91133636 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:91133636G>A uc004efk.2 + 1 3242 c.2397G>A c.(2395-2397)gaG>gaA p.E799E PCDH11X_uc004efl.2_Silent_p.E799E|PCDH11X_uc010nmv.2_Silent_p.E799E|PCDH11X_uc004efm.2_Silent_p.E799E|PCDH11X_uc004efn.2_Silent_p.E799E|PCDH11X_uc004efo.2_Silent_p.E799E|PCDH11X_uc004efh.2_Silent_p.E799E|PCDH11X_uc004efj.1_Silent_p.E799E NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA. 799 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CAAATACTGAGATAGCTGATG 0.443000 36 60 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2005561 2005561 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:2005561C>T uc003wpx.4 + 3 497 c.359C>T c.(358-360)tCc>tTc p.S120F MYOM2_uc011kwi.2_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 120 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CTGGCACGCTCCCAGGCCCGC 0.617000 24 13 0 0 1 0 0 NLRX1 79671 broad.mit.edu 37 11 119043650 119043650 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:119043650C>T uc001pvu.3 + 3 396 c.181C>T c.(181-183)Ccc>Tcc p.P61S NLRX1_uc010rzc.1_5'UTR|NLRX1_uc001pvv.3_Missense_Mutation_p.P61S|NLRX1_uc001pvw.3_Missense_Mutation_p.P61S|NLRX1_uc001pvx.3_Missense_Mutation_p.P61S NM_024618 NP_078894 Q86UT6 NLRX1_HUMAN Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA. 61 innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) AGATAGCGCTCCCCCACCCGG 0.637000 77 17 0 0 1 0 0 VSTM2L 128434 broad.mit.edu 37 20 36560112 36560112 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:36560112G>A uc002xhk.4 + 1 451 c.197G>A c.(196-198)gGc>gAc p.G66D NM_080607 NP_542174 Q96N03 VTM2L_HUMAN Homo sapiens V-set and transmembrane domain containing 2 like (VSTM2L), mRNA. 66 Ig-like. p.G66S(2) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1) 8 Myeloproliferative disorder(115;0.00878) TCCTTCCGCGGCAGCGGCTCC 0.622000 128 42 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130929789 130929789 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:130929789C>T uc001uil.2 - 6 772 c.556G>A c.(556-558)Gag>Aag p.E186K RIMBP2_uc001uim.3_Missense_Mutation_p.E94K NM_015347 NP_056162 O15034 RIMB2_HUMAN Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA. 186 SH3 1. cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TCGGGGTTCTCGTTCGGTCCA 0.542000 62 28 0 0 1 0 0 VWA1 64856 broad.mit.edu 37 1 1372863 1372863 + Splice_Site SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:1372863C>T uc001afs.3 + 2 857 c.631_splice c.e2+1 p.D211_splice VWA1_uc001afr.3_Splice_Site NM_022834 NP_073745 Q6PCB0 VWA1_HUMAN Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA. 211 Fibronectin type-III 1.|VWFA. basement membrane NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCTCCATTCTCGGTATGCGGG 0.617000 45 28 0 0 1 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973695 46973695 + Missense_Mutation SNP G C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:46973695G>C uc002peq.4 - 1 904 c.598C>G c.(598-600)Ccg>Gcg p.P200A PNMAL1_uc002per.4_Missense_Mutation_p.P200A NM_018215 NP_060685 Q86V59 PNML1_HUMAN Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA. 200 cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) GCAAGCCCCGGTTCTTTCTTC 0.597000 80 15 0 0 1 0 0 SDR42E1 93517 broad.mit.edu 37 16 82032973 82032973 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:82032973G>A uc002fgu.3 - 2 1053 c.925C>T c.(925-927)Ccc>Tcc p.P309S NM_145168 NP_660151 Q8WUS8 D42E1_HUMAN Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA. 309 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 GTGAGGAAGGGCTGGAAGTTG 0.448000 88 38 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30941224 30941224 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:30941224C>T uc003xio.4 + 9 2067 c.1279C>T c.(1279-1281)Ccc>Tcc p.P427S WRN_uc011lbd.1_Intron|WRN_uc011lbe.1_5'UTR NM_000553 NP_000544 Q14191 WRN_HUMAN Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA. 427 2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K. DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) GCATTTATCTCCCAATGATAA 0.274000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 79 14 0 0 1 0 0 TGFBI 7045 broad.mit.edu 37 5 135382142 135382142 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:135382142C>T uc003lbf.4 + 3 578 c.417C>T c.(415-417)acC>acT p.T139T TGFBI_uc003lbg.4_5'UTR|TGFBI_uc003lbh.4_5'UTR|TGFBI_uc011cyb.2_5'UTR NM_000358 NP_000349 Q15582 BGH3_HUMAN Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA. 139 FAS1 1. angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception extracellular space|proteinaceous extracellular matrix integrin binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCAGCTTCACCATCTTCGCCC 0.622000 24 3 0 0 1 0 0 ALOX15B 247 broad.mit.edu 37 17 7951740 7951740 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:7951740G>A uc002gju.3 + 13 2004 c.1888G>A c.(1888-1890)Gag>Aag p.E630K ALOX15B_uc002gjv.3_Missense_Mutation_p.E601K|ALOX15B_uc002gjw.3_Missense_Mutation_p.E556K|ALOX15B_uc010vun.2_Missense_Mutation_p.E618K|ALOX15B_uc010cnp.3_Missense_Mutation_p.E436K NM_001141 NP_001132 O15296 LX15B_HUMAN Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA. 630 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 GCACTTCACAGAGGAGGCCCC 0.662000 66 16 0 0 1 0 0 SLC25A38 54977 broad.mit.edu 37 3 39433070 39433070 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:39433070G>A uc003cjo.2 + 3 816 c.415G>A c.(415-417)Gtc>Atc p.V139I NM_017875 NP_060345 Q96DW6 S2538_HUMAN Homo sapiens solute carrier family 25, member 38 (SLC25A38), nuclear gene encoding mitochondrial protein, mRNA. 139 erythrocyte differentiation|heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) TGTTGCAGGGGTCTGTATGTC 0.557000 199 67 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28918401 28918401 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:28918401G>A uc002kwp.3 + 9 1601 c.1389G>A c.(1387-1389)acG>acA p.T463T NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 463 Cadherin 4. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding p.G462E(1) NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ACCAAGGAACGATTCTCTCTA 0.318000 86 24 0 0 1 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36557578 36557578 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:36557578C>T uc001bzt.3 + 3 637 c.584C>T c.(583-585)gCc>gTc p.A195V NM_017825 NP_060295 Q9NX46 ARHL2_HUMAN Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA. 195 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) ATCCTGCAGGCCCTGGCTGTG 0.632000 61 17 0 0 1 0 0 TPH2 121278 broad.mit.edu 37 12 72338095 72338095 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:72338095C>T uc009zrw.1 + 2 418 c.277C>T c.(277-279)Cat>Tat p.H93Y TPH2_uc001swy.2_Missense_Mutation_p.H3Y NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA. 93 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) CAACATGGTTCATATTGAATC 0.408000 96 42 0 0 1 0 0 MRPS31 10240 broad.mit.edu 37 13 41345346 41345346 + Splice_Site SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:41345346C>T uc001uxm.4 - 1 1 c.-74_splice c.e1-1 NM_005830 NP_005821 Q92665 RT31_HUMAN Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA. mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) CCCGCCCTCTCTTCCGCTTCC 0.637000 12 4 0 0 1 0 0 NOC3L 64318 broad.mit.edu 37 10 96116935 96116935 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:96116935C>T uc001kjq.1 - 3 592 c.504G>A c.(502-504)aaG>aaA p.K168K NOC3L_uc009xuk.1_5'UTR NM_022451 NP_071896 Q8WTT2 NOC3L_HUMAN Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA. 168 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) ACTCACCTGGCTTCTCCCTAG 0.323000 80 46 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144946003 144946003 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:144946003C>T uc003zaa.1 - 0 1432 c.1419G>A c.(1417-1419)cgG>cgA p.R473R NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 473 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTCCCCTCCCCGGGGTCCCC 0.692000 21 12 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45386459 45386459 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:45386459G>A uc001zun.3 - 33 4739 c.4536C>T c.(4534-4536)atC>atT p.I1512I DUOX2_uc010bea.3_Silent_p.I1512I NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1512 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity p.K1511M(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) TGAACACCCCGATCTTGCGCA 0.572000 48 12 0 0 1 0 0 CERKL 375298 broad.mit.edu 37 2 182423343 182423343 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:182423343C>T uc002unx.3 - 5 949 c.848G>A c.(847-849)cGa>cAa p.R283Q CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.R257Q|CERKL_uc010zfm.2_Missense_Mutation_p.R239Q|CERKL_uc002unz.3_Missense_Mutation_p.R5Q|CERKL_uc002uoa.3_Intron|CERKL_uc002uob.3_Missense_Mutation_p.R5Q|CERKL_uc002uoc.3_Intron|CERKL_uc021vth.1_Missense_Mutation_p.R52Q|CERKL_uc021vti.1_Missense_Mutation_p.R5Q|CERKL_uc021vtj.1_Intron|CERKL_uc021vtk.1_Missense_Mutation_p.R5Q|CERKL_uc021vtl.1_Intron|CERKL_uc021vtm.1_Missense_Mutation_p.R52Q|CERKL_uc002uod.2_Missense_Mutation_p.R52Q|CERKL_uc002uoe.3_Missense_Mutation_p.R257Q NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA. 283 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis Golgi apparatus|endoplasmic reticulum|nucleolus diacylglycerol kinase activity p.R257Q(1)|p.R283Q(1) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) AGTCAGGATTCGGTCTGTTTC 0.488000 48 21 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385019 33385019 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:33385019G>A uc003zst.3 - 7 1185 c.1013C>T c.(1012-1014)gCc>gTc p.A338V AQP7_uc003zsu.1_3'UTR NM_001170 NP_001161 O14520 AQP7_HUMAN Homo sapiens aquaporin 7 (AQP7), mRNA. 338 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) GTGCTCTAGGGCCATGGATTC 0.552000 131 73 0 0 1 0 0 TESPA1 9840 broad.mit.edu 37 12 55361005 55361005 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:55361005C>T uc010spd.1 - 4 405 c.272G>A c.(271-273)gGg>gAg p.G91E TESPA1_uc001sgl.3_5'UTR|TESPA1_uc001sgm.3_5'UTR|TESPA1_uc010spb.1_5'UTR|TESPA1_uc010spc.1_5'UTR|TESPA1_uc001sgn.3_Missense_Mutation_p.G91E NM_001136030 NP_001092285 A2RU30 K0748_HUMAN Homo sapiens KIAA0748 (KIAA0748), mRNA. 91 AAAGCTGGTCCCATGGCTGCA 0.483000 21 5 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 121004775 121004775 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:121004775C>T uc001typ.4 + 12 2516 c.2033C>T c.(2032-2034)tCc>tTc p.S678F RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.S589F NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN Homo sapiens ring finger protein 10 (RNF10), mRNA. 678 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGTCCAGGTTCCCATGCAGGT 0.498000 85 28 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216288916 216288916 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:216288916G>A uc002vfa.3 - 7 1435 c.1169C>T c.(1168-1170)tCg>tTg p.S390L FN1_uc002vfc.3_Missense_Mutation_p.S390L|FN1_uc002vfe.3_Missense_Mutation_p.S390L|FN1_uc002vff.3_Missense_Mutation_p.S390L|FN1_uc002vfg.3_Missense_Mutation_p.S390L|FN1_uc002vfh.3_Missense_Mutation_p.S390L|FN1_uc002vfi.3_Missense_Mutation_p.S390L|FN1_uc002vfj.3_Missense_Mutation_p.S390L|FN1_uc002vfb.3_Missense_Mutation_p.S390L|FN1_uc002vfl.3_Missense_Mutation_p.S390L NM_212482 NP_997647 P02751 FINC_HUMAN Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA. 390 Collagen-binding.|Fibronectin type-II 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding p.S390S(1) FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCATAATTCGAAGTTGTGCT 0.512000 114 46 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52431033 52431033 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:52431033C>T uc011bef.2 + 72 12021 c.11760C>T c.(11758-11760)caC>caT p.H3920H DNAH1_uc003ddv.3_Silent_p.H778H NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 3985 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GCATCTACCACCAGATCCCGC 0.617000 10 8 0 0 1 0 0 DTX2P1-UPK3BP1-PMS2P11 441263 broad.mit.edu 37 7 76610427 76610427 + RNA SNP C G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:76610427C>G uc011kgn.1 + 0 c.289C>G DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA. CCCTCACTCTCCGGGGCCCGG 0.672000 71 9 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520640 33520640 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:33520640C>T uc002hjd.2 - 0 773 c.687G>A c.(685-687)gtG>gtA p.V229V NM_152462 NP_689675 Q8N808 AMAC1_HUMAN Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA. 229 integral to membrane CCAGCAGCCCCACCAAGCCAG 0.632000 99 34 0 0 1 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837370 12837370 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:12837370C>T uc001aui.3 + 2 1107 c.1080C>T c.(1078-1080)atC>atT p.I360I NM_001080830 NP_001074299 O95522 PRA12_HUMAN Homo sapiens PRAME family member 12 (PRAMEF12), mRNA. 360 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACTGTGGGATCGTGGATTCCC 0.617000 127 45 0 0 1 0 0 LPCAT4 254531 broad.mit.edu 37 15 34657318 34657318 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:34657318G>A uc001zig.3 - 2 463 c.369C>T c.(367-369)gtC>gtT p.V123V LPCAT4_uc010bav.1_Silent_p.V123V NM_153613 NP_705841 Q643R3 LPCT4_HUMAN Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA. 123 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity|calcium ion binding NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1) 10 CAGCAACAAGGACAGGGGCTT 0.597000 36 21 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39002915 39002915 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:39002915G>A uc002oit.3 + 62 9394 c.9264G>A c.(9262-9264)gtG>gtA p.V3088V RYR1_uc002oiu.3_Silent_p.V3088V|RYR1_uc002oiv.1_Silent_p.V8V|RYR1_uc010xuf.1_Silent_p.V8V NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3088 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.I3087V(1) NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTGAGATCGTGAAGGCTGGCC 0.627000 63 12 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223176467 223176467 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:223176467C>T uc001hnu.2 + 9 2054 c.1728C>T c.(1726-1728)gtC>gtT p.V576V NM_032890 NP_116279 Q96F81 DISP1_HUMAN Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA. 576 SSD. diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) ATGCTTTTGTCCTGTGTGATG 0.413000 129 36 0 0 1 0 0 C4orf29 80167 broad.mit.edu 37 4 128951697 128951697 + Nonsense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:128951697C>T uc021xrt.1 + 10 1429 c.1111C>T c.(1111-1113)Caa>Taa p.Q371* C4orf29_uc003ift.3_Nonsense_Mutation_p.Q236*|C4orf29_uc003ifu.3_Nonsense_Mutation_p.Q236*|C4orf29_uc010inz.3_Nonsense_Mutation_p.Q202*|C4orf29_uc003ifv.3_Nonsense_Mutation_p.Q236* NM_001039717 NP_001034806 Q0P651 CD029_HUMAN Homo sapiens chromosome 4 open reading frame 29 (C4orf29), mRNA. 371 extracellular region breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 TATAGTGGTTCAAGCCAAAGA 0.368000 64 21 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61897297 61897297 + Missense_Mutation SNP C A A rs139863209 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:61897297C>A uc001nsw.1 + 3 500 c.298C>A c.(298-300)Cgc>Agc p.R100S INCENP_uc009ynv.3_Missense_Mutation_p.R100S|INCENP_uc009ynw.1_Missense_Mutation_p.R100S|INCENP_uc001nsx.1_Missense_Mutation_p.R100S NM_001040694 NP_001035784 Q9NQS7 INCE_HUMAN Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA. 100 R -> H (in dbSNP:rs12281503). chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GAGCTCCCGACGCCTCCGCAG 0.677000 32 16 1.37285e-15 1.38997e-15 1 1 0 OR52L1 338751 broad.mit.edu 37 11 6007662 6007662 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:6007662G>A uc001mcd.2 - 0 554 c.499C>T c.(499-501)Ctg>Ttg p.L167L NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCCTCACCAGCACCACCATT 0.498000 49 10 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62371076 62371076 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:62371076G>A uc003xuh.3 + 4 1276 c.952G>A c.(952-954)Gaa>Aaa p.E318K CLVS1_uc003xui.3_Non-coding_Transcript NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 318 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TCTGGAGAGAGAATGCTCACC 0.473000 23 23 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149937770 149937770 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:149937770G>A uc001etn.3 - 4 892 c.536C>T c.(535-537)aCc>aTc p.T179I OTUD7B_uc001eto.3_Missense_Mutation_p.T100I NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN Homo sapiens OTU domain containing 7B (OTUD7B), mRNA. 179 Catalytic.|TRAF-binding. negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) CCTCTGAGAGGTGGGATCCAC 0.512000 32 14 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140281742 140281742 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:140281742C>T uc003etn.3 + 13 2492 c.2302C>T c.(2302-2304)Cgg>Tgg p.R768W NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 768 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding p.R768W(2) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCGGCGTTTCCGGATTAAGTG 0.567000 HNSCC(16;0.037) 48 20 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155792215 155792216 + Missense_Mutation DNP GG AA AA TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:155792215_155792216GG>AA uc001flz.2 - 3 846_847 c.749_750CC>TT c.(748-750)acc>aTT p.T250I GON4L_uc001fly.1_Missense_Mutation_p.T250I|GON4L_uc009wrh.1_Missense_Mutation_p.T250I|GON4L_uc001fma.1_Missense_Mutation_p.T250I|GON4L_uc001fmc.3_Missense_Mutation_p.T250I|GON4L_uc001fmd.4_Missense_Mutation_p.T250I|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.T78I|GON4L_uc001fmf.3_5'Flank NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA. 250 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GTTTCCTCTTGGTACCCTTTTT 0.441000 122 61 0 0 1 0 0 C11orf82 220042 broad.mit.edu 37 11 82644584 82644584 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:82644584C>T uc001ozt.3 + 5 2448 c.2204C>T c.(2203-2205)tCc>tTc p.S735F C11orf82_uc010rsr.2_Missense_Mutation_p.S434F|C11orf82_uc010rss.2_Missense_Mutation_p.S434F|C11orf82_uc009yvd.2_Intron NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA. 735 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 CAAAAATTATCCTTGCAAAGC 0.368000 81 30 0 0 1 0 0 TBKBP1 9755 broad.mit.edu 37 17 45776734 45776734 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:45776734G>A uc002ilu.3 + 4 1532 c.683G>A c.(682-684)cGg>cAg p.R228Q NM_014726 NP_055541 A7MCY6 TBKB1_HUMAN Homo sapiens TBK1 binding protein 1 (TBKBP1), mRNA. 228 innate immune response endometrium(5)|kidney(1)|lung(1) 7 GAGCGGCGGCGGCTAGAAGAG 0.711000 OREG0024498 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 4 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65415739 65415739 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:65415739G>A uc003dmn.3 - 11 2149 c.1623C>T c.(1621-1623)tcC>tcT p.S541S MAGI1_uc003dmm.3_Silent_p.S541S|MAGI1_uc003dmo.3_Silent_p.S541S|MAGI1_uc003dmp.3_Silent_p.S541S|MAGI1_uc010hny.2_Silent_p.S426S NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA. 541 PDZ 2. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CAATGGGGATGGACTGGAAGA 0.498000 47 19 0 0 1 0 0 LONRF3 79836 broad.mit.edu 37 X 118147032 118147032 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:118147032C>T uc004eqw.3 + 8 1873 c.1842C>T c.(1840-1842)atC>atT p.I614I LONRF3_uc004eqx.3_Silent_p.I573I|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Silent_p.I358I NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA. 614 Lon. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 TCCTAGAGATCAGAAATGTTC 0.507000 55 73 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13900333 13900333 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:13900333C>T uc003jfd.2 - 14 2283 c.2241G>A c.(2239-2241)agG>agA p.R747R NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 747 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) TACTGAAGTTCCTTTTGTATC 0.378000 Kartagener syndrome 67 43 0 0 1 0 0 OR51E1 143503 broad.mit.edu 37 11 4673985 4673985 + Missense_Mutation SNP T A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:4673985T>A uc021qcq.1 + 0 229 c.229T>A c.(229-231)Tcc>Acc p.S77T OR51E1_uc001lzi.4_Missense_Mutation_p.S77T NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA. 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) CATCCTCATCTCCACCTCATC 0.458000 60 16 0 0 1 0 0 ASB18 401036 broad.mit.edu 37 2 237172851 237172851 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:237172851C>T uc010znh.2 - 0 138 c.138G>A c.(136-138)gtG>gtA p.V46V NM_212556 NP_997721 Q6ZVZ8 ASB18_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 18 (ASB18), mRNA. 46 intracellular signal transduction p.L45P(1) large_intestine(1)|lung(3)|ovary(1)|prostate(1) 6 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) CCAGTTCTATCACAGCGTCCA 0.512000 25 9 0 0 1 0 0 KAT8 84148 broad.mit.edu 37 16 31141818 31141818 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:31141818G>A uc002eay.3 + 8 1066 c.1048G>A c.(1048-1050)Gag>Aag p.E350K KAT8_uc002eax.3_Missense_Mutation_p.E350K|KAT8_uc002eaz.3_Missense_Mutation_p.E192K|KAT8_uc002eba.3_Missense_Mutation_p.E134K NM_032188 NP_115564 Q9H7Z6 MYST1_HUMAN Homo sapiens K(lysine) acetyltransferase 8 (KAT8), transcript variant 1, mRNA. 350 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding CGGCTCCCCGGAGAAGCCACT 0.607000 44 4 0 0 1 0 0 EDN3 1908 broad.mit.edu 37 20 57876665 57876665 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:57876665G>A uc002yap.3 + 1 622 c.253G>A c.(253-255)Gcc>Acc p.A85T EDN3_uc002yao.1_Missense_Mutation_p.A85T|EDN3_uc002yaq.3_Missense_Mutation_p.A85T|EDN3_uc002yar.3_Missense_Mutation_p.A85T|EDN3_uc002yas.3_Missense_Mutation_p.A85T NM_000114 NP_996917 P14138 EDN3_HUMAN Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA. 85 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity p.A84E(2) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 19 all_lung(29;0.0115) GGAGCAGGCGGCCGAGGGGGC 0.652000 83 39 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270717 1270717 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:1270717C>T uc002cks.3 + 34 7033 c.6785C>T c.(6784-6786)aCc>aTc p.T2262I CACNA1H_uc002ckt.3_Missense_Mutation_p.T2256I|CACNA1H_uc002cku.3_Missense_Mutation_p.T957I|CACNA1H_uc010brj.3_Missense_Mutation_p.T973I|CACNA1H_uc002ckv.3_Missense_Mutation_p.T951I NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 2262 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GAGCACCTGACCGTCCCCAGC 0.687000 22 8 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9084790 9084790 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9084790G>A uc002mkp.3 - 0 7229 c.7025C>T c.(7024-7026)tCa>tTa p.S2342L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2342 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S2342L(3) 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 ATTATCCAGTGAAACTGTGCT 0.463000 21 18 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 137814011 137814011 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:137814011G>A uc002tva.1 + 1 68 c.68G>A c.(67-69)gGa>gAa p.G23E THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. p.G54A(1) NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AGGTGTACAGGAGACTGTGGT 0.483000 54 7 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113518989 113518989 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:113518989G>A uc003ynu.3 - 28 4985 c.4826C>T c.(4825-4827)cCg>cTg p.P1609L CSMD3_uc003yns.3_Missense_Mutation_p.P881L|CSMD3_uc003ynt.3_Missense_Mutation_p.P1569L|CSMD3_uc011lhx.2_Missense_Mutation_p.P1505L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1609 CUB 9. integral to membrane|plasma membrane p.P1609L(2)|p.P1569L(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCTGCTATGCGGATATGGATG 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 77 49 0 0 1 0 0 NAA10 8260 broad.mit.edu 37 X 153197787 153197787 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:153197787G>A uc004fjm.1 - 4 434 c.323C>T c.(322-324)tCc>tTc p.S108F NAA10_uc004fjn.1_Missense_Mutation_p.S108F|NAA10_uc011mzg.1_Missense_Mutation_p.S108F NM_003491 NP_003482 P41227 NAA10_HUMAN Homo sapiens N(alpha)-acetyltransferase 10, NatA catalytic subunit (NAA10), transcript variant 1, mRNA. 108 N-acetyltransferase. DNA packaging|N-terminal protein amino acid acetylation|internal protein amino acid acetylation cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1) 10 GACATGCAGGGAGACATATTT 0.582000 15 7 0 0 1 0 0 MCC 4163 broad.mit.edu 37 5 112399743 112399743 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:112399743G>A uc003kql.4 - 13 2567 c.2151C>T c.(2149-2151)gcC>gcT p.A717A MCC_uc003kqj.4_Silent_p.A527A|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Silent_p.A527A NM_001085377 NP_001078846 P23508 CRCM_HUMAN Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA. 527 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CCACGGCAAAGGCTCCCCCAC 0.622000 58 21 0 0 1 0 0 U2AF1L4 199746 broad.mit.edu 37 19 36235043 36235044 + Missense_Mutation DNP GG AT AT TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:36235043_36235044GG>AT uc002obg.3 - 4 366_367 c.57_58CC>AT c.(55-60)ttccgg>ttATgg p.19_20FR>LW IGFLR1_uc002obb.3_5'Flank|IGFLR1_uc002obc.3_5'Flank|IGFLR1_uc010xsy.2_5'Flank|IGFLR1_uc002obd.4_5'Flank|IGFLR1_uc010eej.3_5'UTR|U2AF1L4_uc002obe.3_Missense_Mutation_p.78_79FR>LW|U2AF1L4_uc002obf.3_Missense_Mutation_p.78_79FR>LW|U2AF1L4_uc002obh.1_5'UTR|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank Q8WU68 U2AF4_HUMAN Homo sapiens U2 small nuclear RNA auxiliary factor 1-like 4 (U2AF1L4), transcript variant 1, mRNA. 117 RNA splicing|mRNA processing nuclear speck|spliceosomal complex RNA binding|nucleotide binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCTCCCTCCGGAACTGCAGGA 0.574000 31 11 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28968386 28968386 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:28968386G>A uc002kwr.2 + 3 408 c.273G>A c.(271-273)ggG>ggA p.G91G DSG4_uc002kwq.2_Silent_p.G91G NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 91 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CTGGAGTAGGGATTGATCGAC 0.413000 40 21 0 0 1 0 0 MRPL3 11222 broad.mit.edu 37 3 131190074 131190074 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:131190074G>A uc011blp.2 - 7 955 c.760C>T c.(760-762)Cag>Tag p.Q254* MRPL3_uc011blo.2_Nonsense_Mutation_p.Q122*|MRPL3_uc003eoh.3_Nonsense_Mutation_p.Q227* NM_007208 NP_009139 P09001 RM03_HUMAN Homo sapiens mitochondrial ribosomal protein L3 (MRPL3), nuclear gene encoding mitochondrial protein, mRNA. 227 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 10 GTAGCAGGCTGGCCTTTAAAT 0.388000 110 39 0 0 1 0 0 TAP1 6890 broad.mit.edu 37 6 32821443 32821443 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:32821443C>T uc003ocg.3 - 0 306 c.151G>A c.(151-153)Ggc>Agc p.G51S TAP1_uc011dqi.2_5'Flank|PSMB9_uc011dqj.2_5'Flank|PSMB9_uc003sga.3_5'Flank NM_000593 NP_000584 Q03518 TAP1_HUMAN Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA. 51 antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity TAP complex|cytosol|plasma membrane ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1) 21 CGGTCCCGGCCGGGCCTGGGA 0.746000 10 6 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12460343 12460343 + Missense_Mutation SNP G C C rs140805551 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:12460343G>C uc001atv.3 + 60 11881 c.11740G>C c.(11740-11742)Gca>Cca p.A3914P VPS13D_uc001atw.3_Missense_Mutation_p.A3889P|VPS13D_uc001atx.3_Missense_Mutation_p.A3101P|VPS13D_uc009vnl.3_Non-coding_Transcript NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 3913 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GCAAGTCAACGCAGTGAAGTT 0.537000 41 20 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7649537 7649537 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:7649537C>T uc001qsz.3 - 4 1099 c.971G>A c.(970-972)gGa>gAa p.G324E CD163_uc001qta.3_Missense_Mutation_p.G324E|CD163_uc009zfw.2_Missense_Mutation_p.G324E NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 324 SRCR 3. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 GTGTCCAAATCCCTTACTGGC 0.502000 48 14 0 0 1 0 0 DRP2 1821 broad.mit.edu 37 X 100505506 100505506 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:100505506G>A uc004egz.2 + 14 2004 c.1635G>A c.(1633-1635)ctG>ctA p.L545L DRP2_uc011mrh.1_Silent_p.L467L NM_001939 NP_001164655 Q13474 DRP2_HUMAN Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA. 545 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 CCCGTCAGCTGGGTGAAGTGG 0.602000 26 40 0 0 1 0 0 KRT31 3881 broad.mit.edu 37 17 39550372 39550372 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:39550372C>T uc002hwn.3 - 6 1200 c.1147G>A c.(1147-1149)Gga>Aga p.G383R KRT31_uc010cxn.3_3'UTR NM_002277 NP_002268 Q15323 K1H1_HUMAN Homo sapiens keratin 31 (KRT31), mRNA. 383 Tail. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) AGACAGGGTCCGATGGGCTTG 0.572000 56 21 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103183261 103183261 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:103183261G>A uc022ajr.1 - 42 6748 c.6588C>T c.(6586-6588)atC>atT p.I2196I RELN_uc022ajq.1_Silent_p.I2196I|RELN_uc010liz.3_Silent_p.I2196I NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 2196 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) CACTAGAAAGGATTCCACACT 0.383000 111 37 0 0 1 0 0 BCKDHA 593 broad.mit.edu 37 19 41930426 41930426 + Silent SNP C T T rs147021347 byFrequency TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:41930426C>T uc002oqq.3 + 8 1290 c.1251C>T c.(1249-1251)ccC>ccT p.P417P BCKDHA_uc002oqm.4_Silent_p.P451P|BCKDHA_uc002oqr.3_Silent_p.P416P|BCKDHA_uc010xvz.2_Silent_p.P420P NM_000709 NP_000700 P12694 ODBA_HUMAN Homo sapiens branched chain keto acid dehydrogenase E1, alpha polypeptide (BCKDHA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 417 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding p.P417P(2) central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 AGGAGATGCCCGCCCAGCTCC 0.617000 99 36 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156816406 156816406 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:156816406C>T uc021ygm.1 + 28 3552 c.3414C>T c.(3412-3414)atC>atT p.I1138I CYFIP2_uc011ddn.2_Silent_p.I1113I|CYFIP2_uc011ddo.2_Silent_p.I943I|CYFIP2_uc021ygn.1_Silent_p.I1138I|CYFIP2_uc021ygo.1_Silent_p.I1138I|CYFIP2_uc003lwt.3_Silent_p.I1042I|CYFIP2_uc011ddp.2_Silent_p.I873I NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 1164 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGTACTGCATCCCTGTGGGAA 0.622000 22 7 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57759755 57759755 + Missense_Mutation SNP T A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:57759755T>A uc002ixr.1 + 21 4021 c.3578T>A c.(3577-3579)tTt>tAt p.F1193Y CLTC_uc002ixp.3_Missense_Mutation_p.F1189Y|CLTC_uc002ixq.1_Missense_Mutation_p.F1189Y NM_004859 NP_004850 Q00610 CLH1_HUMAN Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA. 1189 Heavy chain arm.|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TTAGAAGAATTTATCAATGGA 0.408000 T """ALK, TFE3""" """ALCL, renal """ 78 35 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6386917 6386917 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:6386917G>A uc002gdd.4 - 5 658 c.507C>T c.(505-507)ttC>ttT p.F169F PITPNM3_uc010cln.3_Silent_p.F133F|PITPNM3_uc002gdc.4_5'Flank NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA. 169 phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2) 36 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) GGGCAGCAGGGAAATGGGCTC 0.597000 35 14 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19554778 19554778 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:19554778C>T uc003cbk.1 + 12 2591 c.2396C>T c.(2395-2397)tCa>tTa p.S799L KCNH8_uc010hex.1_Missense_Mutation_p.S260L NM_144633 NP_653234 Q96L42 KCNH8_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA. 799 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 TTGCAACTTTCAACTTTGAAT 0.423000 104 59 0 0 1 0 0 WDR73 84942 broad.mit.edu 37 15 85188820 85188820 + Silent SNP G C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:85188820G>C uc002bkw.2 - 6 781 c.765C>G c.(763-765)ccC>ccG p.P255P WDR73_uc002bkv.2_Non-coding_Transcript|WDR73_uc002bkx.2_Non-coding_Transcript|WDR73_uc010upa.1_3'UTR|AL357213_uc002bky.1_Silent_p.R104R NM_032856 NP_116245 Q6P4I2 WDR73_HUMAN Homo sapiens WD repeat domain 73 (WDR73), mRNA. 255 cervix(1)|large_intestine(1)|lung(1) 3 AGAGATCCCGGGGGTCAAGAA 0.622000 15 7 0 0 1 0 0 abParts 0 broad.mit.edu 37 15 22473026 22473026 + RNA SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:22473026G>A uc001yuj.2 - 6 c.302C>T Parts of antibodies, mostly variable regions. ACTCTTGAGGGACGGGTTGTA 0.567000 463 44 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124132416 124132416 + Missense_Mutation SNP C A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:124132416C>A uc003ehg.3 + 13 2567 c.2440C>A c.(2440-2442)Cac>Aac p.H814N KALRN_uc010hrv.1_Missense_Mutation_p.H814N|KALRN_uc003ehf.1_Missense_Mutation_p.H814N|KALRN_uc011bjy.1_Missense_Mutation_p.H814N|KALRN_uc003ehh.1_Missense_Mutation_p.H160N NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 814 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 GCTGCAGCGCCACACAGAACG 0.547000 42 23 9.95505e-16 1.01071e-15 1 1 0 KLHL22 84861 broad.mit.edu 37 22 20819167 20819167 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:20819167G>A uc002zsl.2 - 3 1247 c.1090C>T c.(1090-1092)Cga>Tga p.R364* KLHL22_uc011ahr.2_Nonsense_Mutation_p.R221* NM_032775 NP_116164 Q53GT1 KLH22_HUMAN Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA. 364 cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GACTCTGCTCGAAATCCTTGG 0.567000 97 30 0 0 1 0 0 FAM169A 26049 broad.mit.edu 37 5 74109782 74109782 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:74109782G>A uc003kdm.3 - 5 596 c.553C>T c.(553-555)Cta>Tta p.L185L FAM169A_uc010izm.3_Intron|FAM169A_uc003kdl.3_Silent_p.L3L NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN Homo sapiens family with sequence similarity 169, member A (FAM169A), mRNA. 185 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 TTCTTTCTTAGAAACATTGTA 0.398000 138 52 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75898493 75898493 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:75898493G>A uc001vjl.1 - 10 2425 c.2078C>T c.(2077-2079)tCc>tTc p.S693F TBC1D4_uc010aer.2_Missense_Mutation_p.S693F|TBC1D4_uc010aes.2_Intron NM_014832 NP_055647 O60343 TBCD4_HUMAN Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA. 693 Ser-rich. cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) AAGACTGGAGGAAGAATTACT 0.413000 63 13 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220089176 220089176 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:220089176C>T uc001hlw.3 - 3 1284 c.1073G>A c.(1072-1074)gGa>gAa p.G358E RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.3_Missense_Mutation_p.G113E|SLC30A10_uc001hlx.3_Missense_Mutation_p.G133E NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA. 358 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) ATCTTGATATCCCCTGTCCTT 0.458000 134 51 0 0 1 0 0 OR2A14 135941 broad.mit.edu 37 7 143826335 143826335 + Missense_Mutation SNP A T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:143826335A>T uc011kua.2 + 0 130 c.130A>T c.(130-132)Atc>Ttc p.I44F NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA. 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) GAATGGGGTCATCTTTGGGAT 0.498000 274 74 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35441163 35441163 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:35441163G>A uc021wcx.1 - 5 2741 c.2401C>T c.(2401-2403)Ccc>Tcc p.P801S SOGA1_uc002xgd.1_Missense_Mutation_p.P563S NM_080627 NP_542194 O94964 K0889_HUMAN Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA. 563 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 CTCCGGCTGGGGTCGGGCTTA 0.602000 20 13 0 0 1 0 0 MTA2 9219 broad.mit.edu 37 11 62361448 62361448 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:62361448G>A uc001ntq.2 - 17 2296 c.1906C>T c.(1906-1908)Ctg>Ttg p.L636L TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Silent_p.L463L NM_004739 NP_004730 O94776 MTA2_HUMAN Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA. 636 chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 TTCACCTTCAGGGGCAAGTTG 0.597000 OREG0021027 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 86 6 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155530869 155530869 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:155530869G>A uc003ioj.3 - 5 720 c.579C>T c.(577-579)taC>taT p.Y193Y FGG_uc003iog.3_Silent_p.Y193Y NM_021870 NP_068656 P02679 FIBG_HUMAN Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA. 193 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GTTTAATAAAGTAAAGCCCGC 0.408000 73 44 0 0 1 0 0 ATL1 51062 broad.mit.edu 37 14 51094855 51094855 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:51094855G>A uc021rsw.1 + 11 1467 c.1226G>A c.(1225-1227)gGt>gAt p.G409D ATL1_uc001wyd.4_Missense_Mutation_p.G409D|ATL1_uc001wyf.4_Missense_Mutation_p.G409D|ATL1_uc001wye.4_Missense_Mutation_p.G409D|ATL1_uc021rsx.1_Missense_Mutation_p.G409D NM_015915 NP_056999 Q8WXF7 ATLA1_HUMAN Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA. 409 axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 AAGAAGATGGGTGGGGAAGAA 0.438000 77 14 0 0 1 0 0 AGAP11 119385 broad.mit.edu 37 10 88769090 88769090 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:88769090C>T uc001kee.2 + 11 2285 c.1081C>T c.(1081-1083)Ctc>Ttc p.L361F AGAP11_uc001kef.3_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA. 361 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CTTGGGAGTCCTCATGTGTAT 0.557000 188 128 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154267904 154267904 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:154267904G>A uc003lvx.3 - 27 4476 c.4393C>T c.(4393-4395)Ctc>Ttc p.L1465F GEMIN5_uc011ddk.1_Missense_Mutation_p.L1464F NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA. 1465 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGCAGGACGAGGCAGCACTCC 0.537000 64 24 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546416 11546416 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:11546416C>T uc010shk.1 - 2 631 c.596G>A c.(595-597)gGa>gAa p.G199E NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTGGCTTTCCTGGAGGAGG 0.597000 432 63 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67077281 67077281 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:67077281G>A uc002jhw.1 - 36 4797 c.4622C>T c.(4621-4623)tCc>tTc p.S1541F NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 1541 transport integral to membrane ATP binding|ATPase activity p.S1541Y(2) 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) TAACAAAGAGGAATACCTGAA 0.373000 96 39 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480417 73480417 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:73480417G>A uc003xzb.3 + 1 1036 c.448G>A c.(448-450)Gaa>Aaa p.E150K NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 150 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACAAATGAACGAAGAACTGAG 0.453000 161 45 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43251398 43251398 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:43251398G>A uc003ouq.1 + 13 3199 c.2920G>A c.(2920-2922)Ggg>Agg p.G974R TTBK1_uc021yzs.1_Missense_Mutation_p.G262R NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA. 974 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) TGTGGAGGAGGGGGCCCGAGC 0.692000 40 16 0 0 1 0 0 C16orf42 115939 broad.mit.edu 37 16 1400180 1400180 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:1400180G>A uc002cll.3 - 3 650 c.582C>T c.(580-582)ttC>ttT p.F194F GNPTG_uc002clm.3_5'Flank NM_001001410 NP_001001410 Q9UJK0 TSR3_HUMAN Homo sapiens chromosome 16 open reading frame 42 (C16orf42), mRNA. 194 rRNA processing endometrium(1)|kidney(1)|lung(2) 4 Hepatocellular(780;0.0893) TCAGGTCCAAGAAGCCCTTGC 0.587000 28 15 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147092819 147092819 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:147092819G>A uc003weu.2 + 9 2133 c.1617G>A c.(1615-1617)agG>agA p.R539R MIR548I4_uc022aoo.1_Intron NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 539 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGGCACAAAGGAAGCCGGGAA 0.433000 HNSCC(39;0.1) 258 51 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44747192 44747192 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:44747192C>T uc003tln.3 + 21 2967 c.2808C>T c.(2806-2808)ttC>ttT p.F936F OGDH_uc011kbx.2_Silent_p.F932F|OGDH_uc011kby.2_Silent_p.F786F|OGDH_uc003tlp.3_Silent_p.F947F|OGDH_uc011kbz.2_Silent_p.F731F NM_002541 NP_002532 Q02218 ODO1_HUMAN Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 936 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) TGTCGCCATTCCCCTTTGACC 0.547000 142 53 0 0 1 0 0 ZNF702P 79986 broad.mit.edu 37 19 53472914 53472914 + RNA SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:53472914A>G uc002qan.4 - 3 c.1587T>C Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA. TTTGATTTTCAATTAAAAACC 0.338000 37 4 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043600 20043600 + Missense_Mutation SNP G T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:20043600G>T uc002dgu.1 - 1 681 c.519C>A c.(517-519)gaC>gaA p.D173E GPR139_uc010vaw.1_Missense_Mutation_p.D80E NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA. 173 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 TGCTGATGTAGTCTTCAGTCC 0.512000 62 26 4.26978e-12 4.31106e-12 1 1 0 STRC 161497 broad.mit.edu 37 15 43893104 43893104 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:43893104C>T uc001zsf.3 - 24 4888 c.4810G>A c.(4810-4812)Gag>Aag p.E1604K STRC_uc010bdl.3_Missense_Mutation_p.E831K|STRC_uc001zse.3_Missense_Mutation_p.E122K NM_153700 NP_714544 Q7RTU9 STRC_HUMAN Homo sapiens stereocilin (STRC), mRNA. 1604 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TGGAGCTCCTCTGGCCGCAGT 0.557000 91 28 0 0 1 0 0 SIRPG 55423 broad.mit.edu 37 20 1617037 1617037 + Nonsense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:1617037C>T uc002wfm.1 - 2 610 c.545G>A c.(544-546)tGg>tAg p.W182* SIRPG_uc002wfn.1_Nonsense_Mutation_p.W182*|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA. 182 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion integral to membrane|intracellular|plasma membrane protein binding p.W182R(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 ATTTTTGAACCATTTCAGGGT 0.567000 95 26 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28972152 28972152 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:28972152C>T uc002kwr.2 + 7 989 c.854C>T c.(853-855)tCg>tTg p.S285L DSG4_uc002kwq.2_Missense_Mutation_p.S285L NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 285 Cadherin 3. Missing (in LAH1). homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.S285L(2) NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGTTTAAGTTCGGAACTGATA 0.338000 88 35 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148481127 148481127 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:148481127C>T uc010lpg.3 + 10 1782 c.1256C>T c.(1255-1257)cCt>cTt p.P419L CUL1_uc003wey.3_Missense_Mutation_p.P419L|CUL1_uc003wez.3_Missense_Mutation_p.P309L|CUL1_uc003wfa.3_Missense_Mutation_p.P80L NM_003592 NP_003583 Q13616 CUL1_HUMAN Homo sapiens cullin 1 (CUL1), mRNA. 419 G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination SCF ubiquitin ligase complex|cytosol|nucleoplasm ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AGTAAATCCCCTGAGTTGCTG 0.423000 93 21 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3237330 3237330 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:3237330C>T uc021xkv.1 + 62 8755 c.8610C>T c.(8608-8610)acC>acT p.T2870T NM_002111 NP_002102 P42858 HD_HUMAN Homo sapiens huntingtin (HTT), mRNA. 2870 Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGGAGTCCACCCCCTCCATCA 0.577000 32 26 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18246585 18246585 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:18246585C>T uc002nhz.4 + 16 1819 c.1819C>T c.(1819-1821)Cca>Tca p.P607S NM_015016 NP_055831 O60307 MAST3_HUMAN Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA. 607 Protein kinase. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 TGAGGCCCTTCCAGCAGACGC 0.597000 12 5 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111957568 111957568 + Missense_Mutation SNP G A A rs113984808 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:111957568G>A uc001eba.3 - 10 1611 c.1555C>T c.(1555-1557)Cct>Tct p.P519S OVGP1_uc001eaz.3_Missense_Mutation_p.P481S|OVGP1_uc010owb.2_Missense_Mutation_p.P167S NM_002557 NP_002548 Q12889 OVGP1_HUMAN Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA. 519 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) TTTTCCCCAGGGGTCACAGAC 0.567000 55 47 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5154324 5154324 + Missense_Mutation SNP C A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:5154324C>A uc001qni.3 + 0 1240 c.1011C>A c.(1009-1011)ttC>ttA p.F337L NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 337 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 GGTTCACCTTCGAGCTGCTCG 0.622000 118 21 2.4624e-09 2.48277e-09 1 1 0 USP31 57478 broad.mit.edu 37 16 23079893 23079893 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:23079893G>A uc002dll.3 - 15 3533 c.3533C>T c.(3532-3534)tCc>tTc p.S1178F USP31_uc002dlk.3_Missense_Mutation_p.S450F|USP31_uc010vca.2_Missense_Mutation_p.S481F|USP31_uc010bxm.3_Missense_Mutation_p.S466F NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA. 1178 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 57 GBM - Glioblastoma multiforme(48;0.0187) CACCCGAGGGGAATTGGGTTT 0.652000 50 22 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78695301 78695301 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:78695301C>T uc003dqe.2 - 20 3087 c.2879G>A c.(2878-2880)gGg>gAg p.G960E ROBO1_uc003dqc.2_Missense_Mutation_p.G915E|ROBO1_uc003dqd.2_Missense_Mutation_p.G915E|ROBO1_uc003dqb.2_Missense_Mutation_p.G921E|ROBO1_uc010hoh.2_Missense_Mutation_p.G152E|ROBO1_uc011bgl.1_Missense_Mutation_p.G532E NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA. 960 Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis cell surface|cytoplasm|integral to plasma membrane LRR domain binding|axon guidance receptor activity|identical protein binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TAATTACCTCCCTCCACTGCT 0.348000 67 26 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73574739 73574739 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:73574739G>A uc001jrx.4 + 67 10150 c.9760G>A c.(9760-9762)Gga>Aga p.G3254R CDH23_uc001jsg.4_Missense_Mutation_p.G1017R|CDH23_uc001jsh.4_Missense_Mutation_p.G982R|CDH23_uc001jsi.4_Missense_Mutation_p.G982R|CDH23_uc001jsj.4_Missense_Mutation_p.G154R|CDH23_uc010qjr.2_Missense_Mutation_p.G119R NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 3257 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CGAGGAGCCAGGAGACCACAG 0.667000 15 9 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204228404 204228405 + Missense_Mutation DNP GG AT AT TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:204228404_204228405GG>AT uc001hau.3 - 7 1305_1306 c.988_989CC>AT c.(988-990)ccg>ATg p.P330M PLEKHA6_uc009xaw.1_5'Flank|PLEKHA6_uc009xax.1_5'Flank|PLEKHA6_uc009xay.1_5'Flank|PLEKHA6_uc009xaz.1_5'Flank|PLEKHA6_uc009xba.1_5'Flank|PLEKHA6_uc009xbb.1_5'Flank|PLEKHA6_uc009xbc.1_5'Flank NM_014935 NP_055750 Q9Y2H5 PKHA6_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA. 330 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GTCTTCAGGCGGGGGTACCCCC 0.619000 57 17 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54707203 54707203 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:54707203G>A uc021smr.1 + 16 4865 c.4865G>A c.(4864-4866)gGa>gAa p.G1622E UNC13C_uc021sms.1_Missense_Mutation_p.G1624E|UNC13C_uc002acl.3_Missense_Mutation_p.G454E NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1624 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.N1622N(1)|p.G1624E(1) 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) CTGAACATGGGAAAAATAAGT 0.299000 49 19 0 0 1 0 0 KIR3DL3 115653 broad.mit.edu 37 19 55246750 55246750 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:55246750G>A uc002qgu.1 + 5 998 c.980G>A c.(979-981)gGg>gAg p.G327E NM_153443 NP_703144 Q8N743 KI3L3_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 (KIR3DL3), mRNA. 327 integral to membrane|plasma membrane receptor activity p.I326M(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) GTTCTGATTGGGACCTCAGTG 0.458000 76 35 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23219523 23219523 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:23219523C>T uc009vqj.1 + 6 1720 c.1575C>T c.(1573-1575)ttC>ttT p.F525F EPHB2_uc001bge.3_Silent_p.F525F|EPHB2_uc001bgf.3_Silent_p.F525F|EPHB2_uc010odu.2_Silent_p.F525F NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 525 Fibronectin type-III 2. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) AGATGTACTTCCAGACCATGA 0.587000 86 24 0 0 1 0 0 WDR91 29062 broad.mit.edu 37 7 134871889 134871889 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:134871889G>A uc003vsp.2 - 13 1976 c.1914C>T c.(1912-1914)ctC>ctT p.L638L WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Silent_p.L227L NM_014149 NP_054868 A4D1P6 WDR91_HUMAN Homo sapiens WD repeat domain 91 (WDR91), mRNA. 638 breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 40 CGGATACCTTGAGGCCACTCT 0.602000 94 20 0 0 1 0 0 C4BPB 725 broad.mit.edu 37 1 207273178 207273178 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:207273178C>T uc009xcd.3 + 6 1136 c.816C>T c.(814-816)aaC>aaT p.N272N C4BPB_uc001hfi.3_Silent_p.N220N|C4BPB_uc001hfj.3_Silent_p.N221N|C4BPB_uc001hfl.3_Silent_p.N221N|C4BPB_uc001hfk.3_Silent_p.N220N|C4BPB_uc001hfm.3_Silent_p.N221N NM_001017366 NP_001017366 P20851 C4BPB_HUMAN Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA. 221 blood coagulation|complement activation, classical pathway|innate immune response extracellular region breast(2)|lung(1)|ovary(1) 4 CCATGGAGAACTTTATGCAAC 0.393000 119 35 0 0 1 0 0 RXFP1 59350 broad.mit.edu 37 4 159554574 159554574 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:159554574A>G uc003ipz.3 + 11 1180 c.917A>G c.(916-918)aAg>aGg p.K306R RXFP1_uc010iqj.2_Missense_Mutation_p.K135R|RXFP1_uc010iqk.3_Missense_Mutation_p.K174R|RXFP1_uc011cja.2_Missense_Mutation_p.K201R|RXFP1_uc010iqo.3_Intron|RXFP1_uc011cjb.2_Intron|RXFP1_uc011cjc.2_Missense_Mutation_p.K225R|RXFP1_uc011cjd.2_Missense_Mutation_p.K225R|RXFP1_uc010iql.3_Missense_Mutation_p.K150R|RXFP1_uc011cje.2_Missense_Mutation_p.K333R|RXFP1_uc010iqm.3_Missense_Mutation_p.K273R|RXFP1_uc011cjf.2_Missense_Mutation_p.K176R|RXFP1_uc010iqn.3_Missense_Mutation_p.K252R NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA. 306 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GGAAGTAATAAGATTGAAAAT 0.313000 39 23 0 0 1 0 0 KIFAP3 22920 broad.mit.edu 37 1 169961392 169961392 + Missense_Mutation SNP A C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:169961392A>C uc001ggv.3 - 10 1459 c.1188T>G c.(1186-1188)aaT>aaG p.N396K KIFAP3_uc021pep.1_Missense_Mutation_p.N356K|KIFAP3_uc010ply.2_Missense_Mutation_p.N318K|KIFAP3_uc001ggw.2_Missense_Mutation_p.N352K|KIFAP3_uc010plx.2_Missense_Mutation_p.N98K NM_014970 NP_001191446 Q92845 KIFA3_HUMAN Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA. 396 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGTAGTTGTCATTGCCTAGGA 0.313000 35 11 0 0 1 0 0 RAB9BP1 9366 broad.mit.edu 37 5 104435624 104435624 + RNA SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:104435624G>A uc003kok.3 + 0 c.450G>A Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA. TCCTTAATTTGAAACAAGTGC 0.463000 39 18 0 0 1 0 0 ARRDC3 57561 broad.mit.edu 37 5 90670798 90670798 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:90670798G>A uc003kjz.2 - 4 1051 c.811C>T c.(811-813)Cca>Tca p.P271S NM_020801 NP_065852 Q96B67 ARRD3_HUMAN Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA. 271 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 18 all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207) OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22) GAAACTGGTGGAATTTTCAGC 0.403000 91 29 0 0 1 0 0 RNF214 257160 broad.mit.edu 37 11 117152097 117152097 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:117152097C>T uc001pqt.3 + 8 1258 c.1213C>T c.(1213-1215)Cgg>Tgg p.R405W RNF214_uc001pqu.3_Missense_Mutation_p.R405W|RNF214_uc010rxf.2_Missense_Mutation_p.R250W NM_207343 NP_997226 Q8ND24 RN214_HUMAN Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA. 405 zinc ion binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 23 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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258) GAATGGAGTTCGGATAATGAA 0.423000 31 11 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26166101 26166101 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:26166101G>A uc003abz.1 + 4 1787 c.1537G>A c.(1537-1539)Gca>Aca p.A513T MYO18B_uc003aca.1_Missense_Mutation_p.A394T|MYO18B_uc010guy.1_Missense_Mutation_p.A394T|MYO18B_uc010guz.1_Missense_Mutation_p.A394T|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_Missense_Mutation_p.A26T NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 513 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 ATGGTATGAGGCAGAGAAAGT 0.512000 58 31 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39003011 39003011 + Silent SNP C G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:39003011C>G uc002oit.3 + 62 9490 c.9360C>G c.(9358-9360)acC>acG p.T3120T RYR1_uc002oiu.3_Silent_p.T3120T|RYR1_uc002oiv.1_Silent_p.T40T|RYR1_uc010xuf.1_Silent_p.T40T NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3120 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGGCGCGCACCCAGGTGAAAG 0.637000 38 20 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63269135 63269135 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:63269135G>A uc001xfx.3 - 8 1785 c.1734C>T c.(1732-1734)taC>taT p.Y578Y KCNH5_uc001xfy.3_Silent_p.Y578Y|KCNH5_uc001xfz.1_Silent_p.Y520Y NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA. 578 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) CTCCAGCATGGTAAATGAGGT 0.512000 92 10 0 0 1 0 0 PCDHB17 54661 broad.mit.edu 37 5 140536963 140536963 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:140536963G>A uc003lis.3 + 0 1384 c.1384G>A c.(1384-1386)Gag>Aag p.E462K Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA. GTTCGTCCGCGAGAACAACAG 0.612000 169 52 0 0 1 0 0 CPM 1368 broad.mit.edu 37 12 69252815 69252815 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:69252815G>A uc001sup.3 - 7 1038 c.977C>T c.(976-978)cCa>cTa p.P326L CPM_uc001sur.3_Missense_Mutation_p.P326L|CPM_uc001suq.3_Missense_Mutation_p.P326L NM_198320 NP_938079 P14384 CBPM_HUMAN Homo sapiens carboxypeptidase M (CPM), transcript variant 2, mRNA. 326 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATTGGGTAATGGATTTCCATT 0.318000 89 34 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158281195 158281195 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:158281195G>A uc003ipm.4 + 12 2650 c.2191G>A c.(2191-2193)Gag>Aag p.E731K GRIA2_uc011cit.2_Missense_Mutation_p.E684K|GRIA2_uc003ipl.4_Missense_Mutation_p.E731K|GRIA2_uc003ipk.4_Missense_Mutation_p.E684K|GRIA2_uc010iqh.1_Non-coding_Transcript|GRIA2_uc011ciu.1_Missense_Mutation_p.E41K|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_Missense_Mutation_p.E41K|GRIA2_uc011ciy.1_Missense_Mutation_p.E41K|GRIA2_uc011ciz.1_Non-coding_Transcript NM_001083619 NP_001077088 P42262 GRIA2_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA. 731 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane 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(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CACGATGAACGAGTACATTGA 0.507000 40 32 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38211309 38211309 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:38211309G>A uc010abx.3 - 10 2915 c.2680C>T c.(2680-2682)Cga>Tga p.R894* TRPC4_uc010abv.3_Nonsense_Mutation_p.R469*|TRPC4_uc001uwt.3_Nonsense_Mutation_p.R805*|TRPC4_uc001uws.3_Nonsense_Mutation_p.R889*|TRPC4_uc010tey.2_Nonsense_Mutation_p.R748*|TRPC4_uc010abw.3_Nonsense_Mutation_p.R716*|TRPC4_uc010aby.3_Nonsense_Mutation_p.R740* NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 889 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GCTAATCCTCGAGATTCCAGT 0.463000 58 15 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34451165 34451165 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:34451165G>A uc002xek.1 + 5 762 c.651G>A c.(649-651)gaG>gaA p.E217E PHF20_uc002xei.1_Silent_p.E217E|PHF20_uc010gfo.1_Silent_p.E217E|PHF20_uc002xej.1_Silent_p.E101E|PHF20_uc002xel.1_Silent_p.E79E NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN Homo sapiens PHD finger protein 20 (PHF20), mRNA. 217 Lys-rich. 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) CCAAGAACGAGAAGGAAGACA 0.413000 128 61 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33626514 33626515 + Missense_Mutation DNP AC GT GT rs2296344 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:33626514_33626515AC>GT uc021ywr.1 + 4 661_662 c.437_438AC>GT c.(436-438)aac>aGT p.N146S NM_002224 NP_002215 Q14573 ITPR3_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA. 146 MIR 1. G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CTGGAGAAGAACGCCATGCGGG 0.614000 174 45 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112918598 112918598 + Splice_Site SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:112918598G>A uc004bej.4 + 9 3188 c.2996_splice c.e9-1 p.G999_splice PALM2-AKAP2_uc004bek.4_Splice_Site_p.G999_splice|PALM2-AKAP2_uc011lwi.2_Splice_Site_p.G857_splice|PALM2-AKAP2_uc004bem.3_Splice_Site_p.G857_splice|PALM2-AKAP2_uc011lwj.2_Splice_Site_p.G768_splice|PALM2-AKAP2_uc004ben.3_Intron NM_007203 NP_009134 Q9Y2D5 AKAP2_HUMAN Homo sapiens PALM2-AKAP2 readthrough (PALM2-AKAP2), transcript variant 1, mRNA. 768 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 TGTTGTTTCAGGGAAAATAGA 0.493000 48 36 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40275410 40275410 + Missense_Mutation SNP A T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:40275410A>T uc003cka.3 + 11 2101 c.1966A>T c.(1966-1968)Aca>Tca p.T656S MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Intron|MYRIP_uc010hhw.3_Missense_Mutation_p.T567S|MYRIP_uc011ayz.2_Missense_Mutation_p.T469S|FLJ33065_uc003ckb.3_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA. 656 Actin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) CATCAATGCCACAGAGGAGTT 0.507000 62 27 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65267478 65267478 + Missense_Mutation SNP C A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:65267478C>A uc001xht.3 - 6 923 c.872G>T c.(871-873)gGc>gTc p.G291V SPTB_uc001xhr.3_Missense_Mutation_p.G291V|SPTB_uc001xhs.3_Missense_Mutation_p.G291V|SPTB_uc001xhu.3_Missense_Mutation_p.G291V NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 291 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) TTGTACCTTGCCGACACGCTT 0.498000 OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 4 1 1 1 1 0 NCAM2 4685 broad.mit.edu 37 21 22782762 22782762 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr21:22782762G>A uc002yld.2 + 9 1613 c.1364G>A c.(1363-1365)gGa>gAa p.G455E NCAM2_uc011acb.2_Missense_Mutation_p.G313E NM_004540 NP_004531 O15394 NCAM2_HUMAN Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA. 455 Ig-like C2-type 5. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TATAGTACAGGAAGAAAGATG 0.294000 101 32 0 0 1 0 0 EXOSC7 23016 broad.mit.edu 37 3 45048923 45048923 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:45048923G>A uc003coi.2 + 6 656 c.627G>A c.(625-627)cgG>cgA p.R209R EXOSC7_uc003coh.1_Silent_p.R144R|EXOSC7_uc010his.1_Silent_p.R128R NM_015004 NP_055819 Q15024 EXOS7_HUMAN Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA. 209 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) TTGGCTATCGGCATGTGGTGG 0.612000 24 13 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116535379 116535379 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:116535379G>A uc002tle.3 + 14 1363 c.1342G>A c.(1342-1344)Gaa>Aaa p.E448K DPP10_uc002tla.2_Missense_Mutation_p.E444K|DPP10_uc002tlb.2_Missense_Mutation_p.E394K|DPP10_uc002tlc.2_Missense_Mutation_p.E440K|DPP10_uc002tlf.2_Missense_Mutation_p.E437K NM_001178034 NP_001171505 Q8N608 DPP10_HUMAN Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA. 444 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TCTGAGCACTGAATCTTCTCC 0.408000 57 28 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81610564 81610564 + Missense_Mutation SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:81610564T>C uc001xvd.1 + 9 2318 c.2162T>C c.(2161-2163)gTt>gCt p.V721A NM_000369 NP_000360 P16473 TSHR_HUMAN Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA. 721 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) GATATTCAGGTTCAAAAGGTT 0.488000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 101 41 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27677285 27677285 + Splice_Site SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:27677285C>T uc002rku.3 - 32 3517 c.3466_splice c.e32-1 p.G1156_splice IFT172_uc010ezb.3_5'Flank NM_015662 NP_056477 Q9UG01 IF172_HUMAN Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA. 1156 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TCGAATTTACCCTACAGGGAG 0.522000 89 20 0 0 1 0 0 HMGXB4 10042 broad.mit.edu 37 22 35661022 35661022 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:35661022C>T uc003anl.3 + 4 815 c.641C>T c.(640-642)cCc>cTc p.P214L HMGXB4_uc011amh.1_Missense_Mutation_p.P105L|HMGXB4_uc003ank.3_Missense_Mutation_p.P105L NM_001003681 NP_001003681 Q9UGU5 HMGX4_HUMAN Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA. 214 Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TTTCAATATCCCTCCCAACAA 0.443000 160 66 0 0 1 0 0 SMC3 9126 broad.mit.edu 37 10 112352867 112352867 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:112352867C>T uc001kze.3 + 17 1975 c.1849C>T c.(1849-1851)Ccc>Tcc p.P617S NM_005445 NP_005436 Q9UQE7 SMC3_HUMAN Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA. 617 Flexible hinge. DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) GAGGTACAATCCCAGATTTGA 0.383000 23 7 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19359662 19359662 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:19359662G>A uc002nlz.3 + 13 3890 c.3791G>A c.(3790-3792)tGg>tAg p.W1264* NCAN_uc002nma.3_Missense_Mutation_p.G20R NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 1264 Sushi. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) AATGGCAAGTGGGACAGGCCC 0.473000 63 10 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51712650 51712650 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:51712650G>A uc003pah.1 - 49 8306 c.8030C>T c.(8029-8031)cCa>cTa p.P2677L PKHD1_uc010jzn.1_Missense_Mutation_p.P660L|PKHD1_uc003pai.3_Missense_Mutation_p.P2677L NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 2677 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) TGGAAGAAATGGAAAAGACAG 0.483000 106 34 0 0 1 0 0 BCMO1 53630 broad.mit.edu 37 16 81295874 81295874 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:81295874G>A uc002fgn.1 + 3 675 c.457G>A c.(457-459)Gaa>Aaa p.E153K BCMO1_uc002fgm.1_Missense_Mutation_p.E153K|BCMO1_uc010vnp.1_Missense_Mutation_p.E84K NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA. 153 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 ACAGACTCTGGAAACCCTGGA 0.507000 113 32 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108211414 108211414 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:108211414G>A uc003dxa.1 - 9 921 c.864C>T c.(862-864)ttC>ttT p.F288F NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 288 Myosin head-like. myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CAGCCTGCTGGAAAATCACCC 0.378000 43 16 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138400102 138400102 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:138400102G>A uc002tva.1 + 19 3754 c.3754G>A c.(3754-3756)Gaa>Aaa p.E1252K THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AACCCAAGGAGAAGGACGGCC 0.512000 111 30 0 0 1 0 0 FGL2 10875 broad.mit.edu 37 7 76826089 76826089 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:76826089C>T uc003ugb.3 - 1 867 c.827G>A c.(826-828)gGa>gAa p.G276E CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron NM_006682 NP_006673 Q14314 FGL2_HUMAN Homo sapiens fibrinogen-like 2 (FGL2), mRNA. 276 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 TCTGAGGTTTCCAAAGCCTGC 0.473000 133 45 0 0 1 0 0 YSK4 80122 broad.mit.edu 37 2 135745002 135745002 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:135745002C>T uc002tue.1 - 6 1471 c.1440G>A c.(1438-1440)agG>agA p.R480R YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Silent_p.R367R|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Silent_p.R208R|YSK4_uc002tui.4_Silent_p.R497R NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA. 480 ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(221;0.112) GAGGCACCATCCTACTCATTT 0.443000 91 23 0 0 1 0 0 UNC45B 146862 broad.mit.edu 37 17 33491062 33491062 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:33491062C>T uc002hja.3 + 8 1125 c.1028C>T c.(1027-1029)tCc>tTc p.S343F UNC45B_uc002hjb.3_Missense_Mutation_p.S343F|UNC45B_uc002hjc.3_Missense_Mutation_p.S343F|UNC45B_uc010cto.3_Missense_Mutation_p.S343F NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA. 343 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GATCTGCCATCCTGCCTGCCC 0.582000 163 50 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881601 228881601 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:228881601G>A uc002vpq.2 - 6 4016 c.3969C>T c.(3967-3969)atC>atT p.I1323I SPHKAP_uc002vpp.2_Silent_p.I1323I|SPHKAP_uc010zlx.1_Silent_p.I1323I NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1323 cytoplasm protein binding p.I1323I(2) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 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;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CATCCACAATGATTTTGTTCT 0.493000 53 30 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4737262 4737262 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:4737262C>T uc001qnb.4 - 3 1050 c.806G>A c.(805-807)cGa>cAa p.R269Q NM_006422 NP_006413 O75969 AKAP3_HUMAN Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA. 269 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding p.R269L(3)|p.R269*(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TTCCTGCCCTCGAAACCTCTT 0.443000 59 27 0 0 1 0 0 OR5B3 441608 broad.mit.edu 37 11 58170043 58170043 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:58170043G>A uc010rkf.2 - 0 840 c.840C>T c.(838-840)atC>atT p.I280I NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA. 280 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) TCAGCATGGGGATGACCATTG 0.443000 84 13 0 0 1 0 0 VGLL1 51442 broad.mit.edu 37 X 135631080 135631080 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:135631080G>A uc004ezy.3 + 2 717 c.547G>A c.(547-549)Gaa>Aaa p.E183K MIR934_uc022cev.1_5'Flank NM_016267 NP_057351 Q99990 VGLL1_HUMAN Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA. 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) CCGTCCTCAGGAATCTGCCGC 0.597000 43 63 0 0 1 0 0 ATP1A2 477 broad.mit.edu 37 1 160109463 160109463 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:160109463G>A uc001fvc.3 + 20 3006 c.2874G>A c.(2872-2874)gaG>gaA p.E958E ATP1A2_uc001fvd.3_Silent_p.E677E NM_000702 NP_000693 P50993 AT1A2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA. 958 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCCTGGAGGAGACGGCGTTGG 0.572000 63 43 0 0 1 0 0 ZNF790 388536 broad.mit.edu 37 19 37309877 37309877 + Missense_Mutation SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:37309877T>C uc021utk.1 - 4 1798 c.1369A>G c.(1369-1371)Aag>Gag p.K457E LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Missense_Mutation_p.K457E|ZNF790_uc021utl.1_Missense_Mutation_p.K457E|ZNF790_uc021utm.1_Missense_Mutation_p.K457E NM_001242802 NP_001229731 Q6PG37 ZN790_HUMAN Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA. 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) AGAAAGGTCTTTCCACATTCC 0.383000 122 21 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48595380 48595380 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:48595380G>A uc002efp.3 - 1 1411 c.1174C>T c.(1174-1176)Caa>Taa p.Q392* NM_153029 NP_694574 O75113 N4BP1_HUMAN Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA. 392 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination PML body|nucleolus breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) CTGTCTTCTTGGAATCTTTTA 0.353000 57 18 0 0 1 0 0 RPL10L 140801 broad.mit.edu 37 14 47120418 47120418 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:47120418C>T uc001wwg.3 - 0 611 c.522G>A c.(520-522)acG>acA p.T174T NM_080746 NP_542784 Q96L21 RL10L_HUMAN Homo sapiens ribosomal protein L10-like (RPL10L), mRNA. 174 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1) 27 CATTAAACTTCGTGAAGCCCC 0.507000 91 34 0 0 1 0 0 CCDC155 147872 broad.mit.edu 37 19 49920509 49920509 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:49920509C>T uc002pnm.2 + 18 1738 c.1533C>T c.(1531-1533)ccC>ccT p.P511P CCDC155_uc010emx.2_Silent_p.P482P NM_144688 NP_653289 Q8N6L0 CC155_HUMAN Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA. 511 integral to membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1) 22 TCTGCCTGCCCCCACAGCGGC 0.652000 15 3 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092452 35092452 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:35092452G>A uc003zwd.3 - 6 1828 c.1432C>T c.(1432-1434)Cca>Tca p.P478S PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Missense_Mutation_p.P41S NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA. 478 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GGGCAGAATGGAAAGCCTGGG 0.567000 70 42 0 0 1 0 0 HPX 3263 broad.mit.edu 37 11 6462112 6462112 + Splice_Site SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:6462112G>A uc001mdg.2 - 1 144 c.83_splice c.e1+1 p.P28_splice HPX_uc009yfc.2_Splice_Site|HPX_uc010rai.1_Splice_Site_p.P28_splice NM_000613 NP_000604 P02790 HEMO_HUMAN Homo sapiens hemopexin (HPX), mRNA. 28 O-glycosylated at one, two and three sites. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) TTTACTCACGGAGGAAGAGGG 0.572000 20 6 0 0 1 0 0 HTR1E 3354 broad.mit.edu 37 6 87725903 87725904 + Missense_Mutation DNP CC TT TT TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:87725903_87725904CC>TT uc003pli.3 + 1 1554_1555 c.851_852CC>TT c.(850-852)acc>aTT p.T284I HTR1E_uc021zcg.1_Missense_Mutation_p.T284I NM_000865 NP_000856 P28566 5HT1E_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA. 284 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3) 41 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) ATCTCTAGCACCAGGGAACGGA 0.510000 120 90 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43316185 43316185 + Missense_Mutation SNP G C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:43316185G>C uc003oux.3 - 5 3027 c.2949C>G c.(2947-2949)aaC>aaG p.N983K ZNF318_uc003ouw.3_Non-coding_Transcript NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN Homo sapiens zinc finger protein 318 (ZNF318), mRNA. 983 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TATCGAAGATGTTAATTCCCA 0.428000 251 72 0 0 1 0 0 OR52K1 390036 broad.mit.edu 37 11 4511034 4511034 + Missense_Mutation SNP C T T rs144863882 byFrequency TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:4511034C>T uc001lza.2 + 0 926 c.904C>T c.(904-906)Cgt>Tgt p.R302C NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA. 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1) 32 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CAAGCAGATTCGTGAGTATGT 0.433000 107 27 0 0 1 0 0 SIX4 51804 broad.mit.edu 37 14 61187119 61187119 + Missense_Mutation SNP C A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:61187119C>A uc001xfc.3 - 1 968 c.908G>T c.(907-909)gGa>gTa p.G303V SIX4_uc010app.1_Missense_Mutation_p.G295V NM_017420 NP_059116 Q9UIU6 SIX4_HUMAN Homo sapiens SIX homeobox 4 (SIX4), mRNA. 303 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) ATCCTCATGTCCCTTGCTGGA 0.468000 89 41 1.15183e-24 1.17432e-24 1 1 0 POLR1B 84172 broad.mit.edu 37 2 113308578 113308578 + Splice_Site SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:113308578A>G uc002thw.2 + 5 1342 c.762_splice c.e5+1 p.K254_splice POLR1B_uc010fkn.2_Splice_Site_p.K198_splice|POLR1B_uc002thx.2_Splice_Site_p.K115_splice|POLR1B_uc010fko.2_Splice_Site_p.K254_splice|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Splice_Site_p.K115_splice|POLR1B_uc010yxo.1_Splice_Site_p.K31_splice NM_019014 NP_061887 Q9H9Y6 RPA2_HUMAN Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA. 254 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 TTTGCACTTAAGGTATGACTT 0.358000 173 61 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215884366 215884366 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:215884366G>A uc002vew.3 - 11 1662 c.1442C>T c.(1441-1443)aCc>aTc p.T481I ABCA12_uc002vev.3_Missense_Mutation_p.T163I|ABCA12_uc010zjn.2_5'UTR NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 481 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TGCTATTTCGGTGCCCAGCTC 0.428000 45 10 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56436024 56436024 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:56436024C>T uc003xsf.3 + 2 1223 c.1191C>T c.(1189-1191)ttC>ttT p.F397F NM_052898 NP_443130 Q5GH76 XKR4_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA. 397 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) CCTCGGTTTTCCAGCTGTACT 0.512000 179 67 0 0 1 0 0 RABAC1 10567 broad.mit.edu 37 19 42461187 42461187 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:42461187G>A uc002osf.3 - 3 536 c.452C>T c.(451-453)gCc>gTc p.A151V NM_006423 NP_006414 Q9UI14 PRAF1_HUMAN Homo sapiens Rab acceptor 1 (prenylated) (RABAC1), mRNA. 151 Golgi apparatus|cell junction|integral to membrane|synaptic vesicle identical protein binding central_nervous_system(1)|kidney(1)|prostate(1) 3 CCAGAAGACGGCCGAGCCCGC 0.657000 60 8 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150171553 150171553 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:150171553G>A uc003whj.3 + 3 1466 c.1136G>A c.(1135-1137)aGa>aAa p.R379K NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA. 379 Golgi apparatus|endoplasmic reticulum|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) ACGTTCTTAAGAAACAGCAAT 0.398000 248 53 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487730 248487730 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:248487730G>A uc010pzk.2 - 0 141 c.141C>T c.(139-141)ctC>ctT p.L47L NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA. 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|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;0.0265) GGTAGATGAGGAGAACCATGA 0.527000 433 146 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891960 18891960 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:18891960G>A uc001rdy.3 + 0 916 c.758G>A c.(757-759)aGa>aAa p.R253K PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA. 253 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) GAAGCCCTGAGAAAAATTCTA 0.423000 67 24 0 0 1 0 0 GPR20 2843 broad.mit.edu 37 8 142367842 142367842 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:142367842C>T uc022bby.1 - 0 182 c.182G>A c.(181-183)gGa>gAa p.G61E GPR20_uc003ywf.3_Missense_Mutation_p.G61E NM_005293 NP_005284 Q99678 GPR20_HUMAN Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA. 61 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) GAAGATGGCTCCGTGCACCGC 0.657000 45 17 0 0 1 0 0 FAM13A 10144 broad.mit.edu 37 4 89680035 89680035 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:89680035G>A uc003hse.1 - 13 1804 c.1596C>T c.(1594-1596)atC>atT p.I532I FAM13A_uc003hsa.1_Silent_p.I3I|FAM13A_uc003hsb.1_Silent_p.I206I|FAM13A_uc003hsd.1_Silent_p.I206I|FAM13A_uc003hsc.1_Silent_p.I192I|FAM13A_uc011cdq.1_Silent_p.I178I|FAM13A_uc003hsf.1_Silent_p.I118I|FAM13A_uc003hsg.1_Silent_p.I3I|FAM13A_uc010ikr.1_Silent_p.I28I NM_014883 NP_055698 O94988 FA13A_HUMAN Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA. 532 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 GATGCTCCTGGATCTTCATTG 0.517000 57 21 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40936475 40936475 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:40936475G>A uc003jmh.3 + 4 430 c.316G>A c.(316-318)Gat>Aat p.D106N C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 106 LDL-receptor class A. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TTGCAATGGGGATTCTGACTG 0.453000 37 12 0 0 1 0 0 TRIM10 10107 broad.mit.edu 37 6 30124747 30124747 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:30124747G>A uc003npo.3 - 4 940 c.864C>T c.(862-864)ctC>ctT p.L288L TRIM10_uc003npn.2_Silent_p.L288L NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA. 288 cytoplasm zinc ion binding ovary(1) 1 TCTGCAGCGGGAGGGCCTGCT 0.597000 81 20 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87656025 87656025 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:87656025C>T uc003ydx.3 - 9 1180 c.1132G>A c.(1132-1134)Gaa>Aaa p.E378K CNGB3_uc010maj.3_Missense_Mutation_p.E240K NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 378 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CCAATTCCTTCATAGTTTGAA 0.358000 126 42 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814281 123814281 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:123814281C>T uc010sab.2 - 0 265 c.265G>A c.(265-267)Gat>Aat p.D89N NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G88V(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) ATGGTGTGATCCCCCGTGAGG 0.502000 65 10 0 0 1 0 0 LMCD1 29995 broad.mit.edu 37 3 8607335 8607335 + Splice_Site SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:8607335T>C uc003bqq.3 + 5 1053 c.939_splice c.e5+2 p.E313_splice LMCD1_uc011atd.2_Splice_Site_p.E240_splice|LMCD1_uc011ate.2_Splice_Site_p.E201_splice NM_014583 NP_055398 Q9NZU5 LMCD1_HUMAN Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA. 313 LIM zinc-binding 2. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) TGCGATGAGGTGGGAGATAGC 0.607000 11 3 0 0 1 0 0 PPP2R5C 5527 broad.mit.edu 37 14 102356587 102356587 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:102356587A>G uc001yko.3 + 5 783 c.643A>G c.(643-645)Aca>Gca p.T215A PPP2R5C_uc010txr.2_Missense_Mutation_p.T246A|PPP2R5C_uc001ykk.3_Missense_Mutation_p.T270A|PPP2R5C_uc010txt.2_Missense_Mutation_p.T205A|PPP2R5C_uc001ykn.3_Missense_Mutation_p.T215A|PPP2R5C_uc001ykp.3_Missense_Mutation_p.T215A|PPP2R5C_uc001ykq.3_Missense_Mutation_p.T113A NM_002719 NP_002710 Q13362 2A5G_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA. 215 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 TATTTATGAAACAGAGCATCA 0.393000 64 16 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618548 77618548 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:77618548C>T uc003yau.2 + 1 2612 c.2225C>T c.(2224-2226)tCt>tTt p.S742F ZFHX4_uc003yat.1_Missense_Mutation_p.S742F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S742F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 742 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTTGGCCACTCTGCCCCAGCC 0.517000 HNSCC(33;0.089) 35 18 0 0 1 0 0 ASIC2 40 broad.mit.edu 37 17 31438984 31438984 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:31438984G>A uc002hht.3 - 1 1683 c.810C>T c.(808-810)atC>atT p.I270I ASIC2_uc002hhu.3_Silent_p.I219I NM_183377 NP_899233 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA. 219 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) TGTCCAGCATGATCTCCAGCC 0.562000 77 29 0 0 1 0 0 TTC26 79989 broad.mit.edu 37 7 138849938 138849938 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:138849938C>T uc003vus.2 + 8 967 c.853C>T c.(853-855)Cct>Tct p.P285S TTC26_uc011kqm.1_Missense_Mutation_p.P179S|TTC26_uc003vur.4_Missense_Mutation_p.P285S|TTC26_uc011kqn.1_Missense_Mutation_p.P285S|TTC26_uc011kqo.1_Missense_Mutation_p.P254S|TTC26_uc011kqp.1_Missense_Mutation_p.P180S|TTC26_uc003vut.2_Missense_Mutation_p.P145S|TTC26_uc011kqq.1_Missense_Mutation_p.P154S NM_024926 NP_079202 A0AVF1 TTC26_HUMAN Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA. 285 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 TGATGTCATTCCTGAAGCTAG 0.378000 36 9 0 0 1 0 0 GUSBP11 91316 broad.mit.edu 37 22 24056378 24056378 + RNA SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:24056378A>G uc011aiz.2 - 2 c.731T>C GUSBP11_uc010gub.1_Non-coding_Transcript Homo sapiens glucuronidase, beta pseudogene 11 (GUSBP11), non-coding RNA. TCTTACCAGAAGCCCTCACCA 0.562000 16 12 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72316221 72316221 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:72316221G>A uc010iic.3 + 9 1286 c.1169G>A c.(1168-1170)aGg>aAg p.R390K SLC4A4_uc003hfy.3_Missense_Mutation_p.R390K|SLC4A4_uc010iib.3_Missense_Mutation_p.R390K|SLC4A4_uc003hfz.3_Missense_Mutation_p.R390K|SLC4A4_uc003hgc.4_Missense_Mutation_p.R346K|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.R268K|SLC4A4_uc003hgb.3_Missense_Mutation_p.R346K NM_001134742 NP_001128214 Q9Y6R1 S4A4_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA. 390 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) CCAGCAATTAGGATAGAGCCT 0.438000 40 20 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139151309 139151309 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:139151309G>A uc003yuy.3 - 17 3992 c.3821C>T c.(3820-3822)tCc>tTc p.S1274F FAM135B_uc003yux.3_Missense_Mutation_p.S1175F|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1274 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) TAGAGACCCGGATTTCTTCAG 0.398000 HNSCC(54;0.14) 96 21 0 0 1 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144068336 144068336 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:144068336C>T uc003wel.3 + 5 3732 c.3614C>T c.(3613-3615)tCa>tTa p.S1205L ARHGEF5_uc003wek.3_Missense_Mutation_p.S1205L|ARHGEF5_uc003wem.3_Missense_Mutation_p.S60L NM_005435 NP_005426 Q12774 ARHG5_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA. 1205 DH. intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Melanoma(164;0.14) CTTTCAACTTCACTCCGGGCC 0.507000 155 16 0 0 1 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19413033 19413033 + RNA SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:19413033G>A uc010tcj.1 - 0 c.33077C>T Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. GCACATCCATGCACTAAAAAG 0.294000 30 4 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3151782 3151782 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:3151782G>A uc002klp.3 - 11 2087 c.1753C>T c.(1753-1755)Cga>Tga p.R585* MYOM1_uc002klq.3_Nonsense_Mutation_p.R585* NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 585 Fibronectin type-III 1. striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TTCACAGCTCGAACTCGGAAG 0.488000 OREG0024839 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 87 28 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57572190 57572190 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:57572190G>A uc001snd.3 + 26 4876 c.4410G>A c.(4408-4410)gaG>gaA p.E1470E NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 1470 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCCACATGGAGGTGCTTCGGG 0.577000 45 15 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96242593 96242593 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:96242593G>A uc001vmk.3 - 16 2635 c.1783C>T c.(1783-1785)Cga>Tga p.R595* DZIP1_uc001vmj.3_Nonsense_Mutation_p.R71*|DZIP1_uc001vml.3_Nonsense_Mutation_p.R576* NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA. 595 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) AGGAATTCTCGAATTTGATGA 0.368000 103 31 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133925499 133925499 + Missense_Mutation SNP G T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:133925499G>T uc003ytw.3 + 19 4408 c.4367G>T c.(4366-4368)gGa>gTa p.G1456V TG_uc010mdw.3_Missense_Mutation_p.G215V NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 1456 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AGTCAGGACGGACTGGGATGC 0.572000 38 20 8.00594e-06 8.0279e-06 1 1 0 OPLAH 26873 broad.mit.edu 37 8 145107471 145107471 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:145107471G>A uc003zar.3 - 22 3266 c.3184C>T c.(3184-3186)Ccc>Tcc p.P1062S NM_017570 NP_060040 O14841 OPLA_HUMAN Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA. 1062 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) GAGCCTCGGGGAATGACCACG 0.726000 7 4 0 0 1 0 0 USP22 23326 broad.mit.edu 37 17 20919102 20919102 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:20919102G>A uc002gym.4 - 5 1005 c.801C>T c.(799-801)ctC>ctT p.L267L USP22_uc002gyn.4_Silent_p.L255L|USP22_uc002gyl.4_Silent_p.L162L NM_015276 NP_056091 Q9UPT9 UBP22_HUMAN Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA. 267 cell cycle|embryo development|histone H4 acetylation|histone deubiquitination|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 15 GGGCCGCGATGAGGAACTCGT 0.632000 17 5 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966991 41966991 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:41966991G>A uc010skn.2 + 9 2418 c.2410G>A c.(2410-2412)Gct>Act p.A804T PDZRN4_uc001rmq.4_Missense_Mutation_p.A546T|PDZRN4_uc009zjz.3_Missense_Mutation_p.A544T|PDZRN4_uc001rmr.3_Missense_Mutation_p.A431T NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 804 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AGGTTGTAGCGCTGAAAGCAA 0.517000 133 37 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141986800 141986800 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:141986800C>T uc002tvj.1 - 5 1774 c.802G>A c.(802-804)Gga>Aga p.G268R LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 268 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.A267E(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) GTTAATCCTCCTGCTTTTGTT 0.294000 TSP Lung(27;0.18) 100 23 0 0 1 0 0 CASP5 838 broad.mit.edu 37 11 104868115 104868115 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:104868115G>A uc010ruz.1 - 7 1272 c.1240C>T c.(1240-1242)Cgg>Tgg p.R414W CASP5_uc010rva.1_Missense_Mutation_p.R401W|CASP5_uc010rvb.1_Missense_Mutation_p.R343W|CASP5_uc010rvc.1_Missense_Mutation_p.R259W|CASP5_uc009yxh.2_Missense_Mutation_p.R183W|CASP5_uc010rvd.1_Missense_Mutation_p.R183W NM_001136112 NP_001129584 P51878 CASP5_HUMAN Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA. 401 apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) CTTACCTTCCGAAATATTTCC 0.388000 66 16 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30966427 30966427 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:30966427G>A uc021vfn.1 - 11 1299 c.1267C>T c.(1267-1269)Cca>Tca p.P423S CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.P419S|CAPN13_uc002rno.3_5'UTR NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN Homo sapiens calpain 13 (CAPN13), mRNA. 423 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) AACACGGGTGGAAATTTCTCC 0.473000 87 15 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12575513 12575513 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:12575513C>T uc002mtv.4 - 3 1384 c.1223G>A c.(1222-1224)cGa>cAa p.R408Q ZNF709_uc002mtw.4_Missense_Mutation_p.R376Q|ZNF709_uc002mtx.4_Missense_Mutation_p.R408Q NM_152601 NP_689814 Q8N972 ZN709_HUMAN Homo sapiens zinc finger protein 709 (ZNF709), mRNA. 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 TTCATGCATTCGAAAGGAACT 0.408000 167 93 0 0 1 0 0 TERT 7015 broad.mit.edu 37 5 1282618 1282618 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:1282618C>T uc003jcb.1 - 2 1753 c.1695G>A c.(1693-1695)gaG>gaA p.E565E TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Silent_p.E565E|TERT_uc003jca.1_Silent_p.E565E|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Silent_p.E17E NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 565 DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity p.T564T(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GAAACGTGGTCTCCGTGACAT 0.522000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 82 25 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79470894 79470894 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:79470894G>A uc001diq.4 - 1 189 c.33C>T c.(31-33)tcC>tcT p.S11S NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 11 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding p.S11F(1) NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TCAACAAAGTGGAAAAAACCA 0.318000 57 13 0 0 1 0 0 AK022382 0 broad.mit.edu 37 10 52390189 52390189 + RNA SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:52390189G>A uc001jjf.1 + 1 c.882G>A Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082. GATATCAATCGAACTGTAGTA 0.383000 27 11 0 0 1 0 0 ESPNL 339768 broad.mit.edu 37 2 239025592 239025592 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:239025592G>A uc002vxq.4 + 4 1014 c.904G>A c.(904-906)Gaa>Aaa p.E302K ESPNL_uc010fyw.3_Intron NM_194312 NP_919288 Q6ZVH7 ESPNL_HUMAN Homo sapiens espin-like (ESPNL), mRNA. 302 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CCTGCGGGATGAAGATGGTTA 0.657000 32 7 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227946898 227946898 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:227946898C>T uc021vxr.1 - 21 1730 c.1629G>A c.(1627-1629)aaG>aaA p.K543K COL4A4_uc021vxs.1_Silent_p.K543K NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 543 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGGCACCATGCTTTCCCTTGG 0.413000 93 46 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14756895 14756895 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:14756895C>T uc003byy.3 + 8 1865 c.1413C>T c.(1411-1413)acC>acT p.T471T C3orf20_uc003byz.3_Silent_p.T349T|C3orf20_uc003bza.3_Silent_p.T349T|C3orf20_uc003bzb.1_5'UTR NM_032137 NP_001171887 Q8ND61 CC020_HUMAN Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA. 471 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 GGACAGAGACCCTGCTTTCCC 0.562000 46 19 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11446665 11446665 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:11446665G>A uc021zzo.1 - 20 4186 c.3934C>T c.(3934-3936)Cga>Tga p.R1312* THSD7A_uc021zzn.1_Nonsense_Mutation_p.R1310* NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 1312 TSP type-1 13. integral to membrane p.R1312Q(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GTCACTGTTCGTCTTCGGATC 0.453000 HNSCC(18;0.044) 27 8 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49740938 49740938 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:49740938C>T uc003cxh.3 + 20 1915 c.1829C>T c.(1828-1830)tCg>tTg p.S610L RNF123_uc010hky.1_Missense_Mutation_p.S272L|RNF123_uc003cxi.3_Non-coding_Transcript NM_022064 NP_071347 Q5XPI4 RN123_HUMAN Homo sapiens ring finger protein 123 (RNF123), mRNA. 610 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GGCCTCCTCTCGCACCTGCGG 0.622000 OREG0015571 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 7 0 0 1 0 0 MUC20 200958 broad.mit.edu 37 3 195453125 195453126 + Missense_Mutation DNP CC TT TT TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:195453125_195453126CC>TT uc010hzo.3 + 2 1264_1265 c.1138_1139CC>TT c.(1138-1140)ccg>TTg p.P380L MUC20_uc010hzp.3_Missense_Mutation_p.P345L|MUC20_uc011bte.1_Non-coding_Transcript NM_152673 NP_689886 Q8N307 MUC20_HUMAN Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA. 551 12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) AGGAGCAGCTCCGGTCTCCATA 0.554000 65 8 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108688560 108688560 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:108688560A>G uc003dxl.3 - 25 2647 c.2560T>C c.(2560-2562)Tgc>Cgc p.C854R MORC1_uc011bhn.2_Missense_Mutation_p.C833R NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 854 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 TGCTCTGGGCACTGCTCCAGC 0.368000 84 26 0 0 1 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054506 67054506 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:67054506C>T uc003dmy.3 + 2 1168 c.1115C>T c.(1114-1116)tCc>tTc p.S372F KBTBD8_uc011bfv.2_Intron NM_032505 NP_115894 Q8NFY9 KBTB8_HUMAN Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA. 372 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) AGATGGCTATCCAAACCATCC 0.458000 110 53 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18854502 18854502 + Splice_Site SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:18854502C>T uc021qvx.1 - 9 1141 c.950_splice c.e9-1 p.G317_splice PLCZ1_uc001rdv.4_Splice_Site_p.G213_splice|PLCZ1_uc001rdw.4_Splice_Site_p.G58_splice|PLCZ1_uc001rdu.1_Missense_Mutation_p.G99E|PLCZ1_uc009zil.1_Splice_Site NM_033123 NP_149114 Q86YW0 PLCZ1_HUMAN Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA. 317 intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TTGATTGTCTCCTAAAACAGA 0.433000 70 30 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147092805 147092805 + Missense_Mutation SNP G A A rs76475298 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:147092805G>A uc003weu.2 + 9 2119 c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K MIR548I4_uc022aoo.1_Intron NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 535 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AAATTTATACGAAGTGGCACA 0.438000 HNSCC(39;0.1) 175 144 0 0 1 0 0 SLC25A24 29957 broad.mit.edu 37 1 108697741 108697741 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:108697741G>A uc001dvn.4 - 5 900 c.686C>T c.(685-687)tCa>tTa p.S229L SLC25A24_uc001dvm.3_Missense_Mutation_p.S210L NM_013386 NP_037518 Q6NUK1 SCMC1_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 229 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) CATTTTGTCTGATTTTGAACC 0.358000 62 28 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237308114 237308114 + Nonsense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:237308114C>T uc002vwb.2 - 8 1207 c.1173G>A c.(1171-1173)tgG>tgA p.W391* IQCA1_uc002vvz.1_Nonsense_Mutation_p.W384*|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Nonsense_Mutation_p.W343* NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 384 Lys-rich. ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 GTGACATTTTCCATTTTTCGT 0.458000 70 15 0 0 1 0 0 CCDC164 92749 broad.mit.edu 37 2 26676394 26676394 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:26676394C>T uc002rhg.2 + 13 1970 c.1896C>T c.(1894-1896)ttC>ttT p.F632F NM_145038 NP_659475 Q96MC2 CC164_HUMAN Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA. 632 cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1) 35 TGGAGGCCTTCGTCATGGGTC 0.612000 28 20 0 0 1 0 0 CECR6 27439 broad.mit.edu 37 22 17601208 17601208 + Silent SNP G C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:17601208G>C uc002zmb.2 - 0 1006 c.810C>G c.(808-810)gcC>gcG p.A270A CECR6_uc002zma.2_Intron|BC021738_uc002zmc.3_5'Flank NM_031890 NP_114096 Q9BXQ6 CECR6_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA. 270 Ala-rich. haematopoietic_and_lymphoid_tissue(1) 1 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) GGGGCGGCGCGGCGTGGTGGT 0.796000 8 5 0 0 1 0 0 AACSP1 729522 broad.mit.edu 37 5 178199631 178199631 + Splice_Site SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:178199631C>T uc011dgk.2 - 4 c.257_splice c.e4-1 AACSP1_uc011dgl.2_Splice_Site|AACSP1_uc003mjk.3_Splice_Site Homo sapiens acetoacetyl-CoA synthetase pseudogene 1 (AACSP1), non-coding RNA. CAAAGGAGTCCACTGTGGAGA 0.607000 13 4 0 0 1 0 0 ATXN1 6310 broad.mit.edu 37 6 16326932 16326932 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:16326932G>A uc003nbt.3 - 7 2581 c.1610C>T c.(1609-1611)gCc>gTc p.A537V ATXN1_uc010jpi.3_Missense_Mutation_p.A537V|ATXN1_uc010jpj.1_Intron NM_000332 NP_001121636 P54253 ATX1_HUMAN Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA. 537 Self-association. RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2) 44 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GGTGACCAGGGCCTCAGGGTT 0.677000 104 13 0 0 1 0 0 FCRL6 343413 broad.mit.edu 37 1 159779926 159779926 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:159779926C>T uc001fud.4 + 5 971 c.929C>T c.(928-930)cCt>cTt p.P310L FCRL6_uc001fuc.2_Missense_Mutation_p.P317L|FCRL6_uc009wsz.1_Missense_Mutation_p.P215L|FCRL6_uc009wta.3_Missense_Mutation_p.P310L NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Homo sapiens Fc receptor-like 6 (FCRL6), mRNA. 310 integral to membrane NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 24 all_hematologic(112;0.0597) TGGCTGGTTCCTTGGCTTCCT 0.512000 123 77 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54685258 54685258 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:54685258G>A uc021smr.1 + 15 4720 c.4720G>A c.(4720-4722)Gat>Aat p.D1574N UNC13C_uc021sms.1_Missense_Mutation_p.D1576N|UNC13C_uc002acl.3_Missense_Mutation_p.D406N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1576 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) TAAGAAACAGGATATTCCTCG 0.378000 64 17 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331595 107331595 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:107331595C>T uc011lvo.2 + 0 147 c.147C>T c.(145-147)atC>atT p.I49I NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 TCTCAGTTATCATCTTTGATT 0.443000 159 109 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16470714 16470714 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:16470714G>A uc021trd.1 - 1 950 c.332C>T c.(331-333)tCc>tTc p.S111F ZNF287_uc002gqi.2_Missense_Mutation_p.S111F NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN Homo sapiens zinc finger protein 287 (ZNF287), mRNA. 104 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TGGATACTGGGACTTTACCCA 0.502000 99 37 0 0 1 0 0 CD70 970 broad.mit.edu 37 19 6586259 6586259 + Silent SNP C A A rs148252487 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:6586259C>A uc010xjf.1 - 2 504 c.354G>T c.(352-354)acG>acT p.T118T CD70_uc002mfi.3_Silent_p.T118T NM_001252 NP_001243 P32970 CD70_HUMAN Homo sapiens CD70 molecule (CD70), mRNA. 118 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1) 11 TGGAGGCCGTCGTGGAGGAGC 0.612000 38 23 2.41591e-17 2.45623e-17 1 1 0 abParts 0 broad.mit.edu 37 14 106800471 106800471 + RNA SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:106800471C>T uc021ser.1 - 592 c.16786G>A Parts of antibodies, mostly variable regions. ACTACTCACTCCAGCCCCTTC 0.463000 28 6 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37490229 37490229 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:37490229G>A uc021ppc.1 + 30 2776 c.2677G>A c.(2677-2679)Gat>Aat p.D893N ANKRD30A_uc001iza.1_Missense_Mutation_p.D893N NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 949 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 AAAAGAAATGGATAAAATAAG 0.318000 42 37 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9046973 9046973 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9046973G>A uc002mkp.3 - 4 34862 c.34658C>T c.(34657-34659)tCt>tTt p.S11553F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11555 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 GTCTGTCCCAGAACTAGGGAC 0.517000 51 10 0 0 1 0 0 RBMY1B 378948 broad.mit.edu 37 Y 24052532 24052532 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrY:24052532C>T uc004fuw.4 - 7 1006 c.854G>A c.(853-855)cGg>cAg p.R285Q RBMY1B_uc010nxc.1_Intron|RBMY1B_uc011nbg.2_Missense_Mutation_p.R285Q|RBMY1B_uc010nxd.3_Missense_Mutation_p.R285Q|RBMY1B_uc004fux.4_Missense_Mutation_p.R145Q|RBMY1B_uc011nbf.2_Missense_Mutation_p.R250Q NM_001006121 NP_001006118 A6NDE4 RBY1B_HUMAN Homo sapiens RNA binding motif protein, Y-linked, family 1, member B (RBMY1B), mRNA. 285 Arg-rich. RNA splicing|mRNA processing|male gonad development|spermatogenesis nucleus RNA binding|nucleotide binding|protein binding ACTTTCATCCCGACGAGAATG 0.383000 253 62 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155226333 155226333 + Silent SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:155226333A>G uc003inw.2 - 15 3946 c.3946T>C c.(3946-3948)Tta>Cta p.L1316L NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA. 1316 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) ATCTCGAATAATTCAAATGAA 0.353000 15 15 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228169718 228169718 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:228169718G>A uc002vom.2 + 46 4333 c.4171G>A c.(4171-4173)Ggt>Agt p.G1391S BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_5'Flank|COL4A3_uc021vxt.1_5'Flank NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 1391 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) TGGGCCAAGAGGTAAGCCAGG 0.473000 34 6 0 0 1 0 0 DAAM2 23500 broad.mit.edu 37 6 39832813 39832813 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:39832813G>A uc003oow.3 + 4 530 c.391G>A c.(391-393)Gaa>Aaa p.E131K DAAM2_uc010jxc.3_Missense_Mutation_p.E131K|DAAM2_uc003oox.3_Missense_Mutation_p.E131K NM_001201427 NP_001188356 Q86T65 DAAM2_HUMAN Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA. 131 GBD/FH3. actin cytoskeleton organization Rho GTPase binding|actin binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5) 49 Ovarian(28;0.0355)|Colorectal(47;0.196) CCAAGTCGTGGAAGACCTGAA 0.562000 OREG0017416 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 3 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44072484 44072484 + Splice_Site SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:44072484G>A uc001cjr.3 + 21 4043 c.3703_splice c.e21-1 p.K1235_splice PTPRF_uc001cjs.3_Splice_Site_p.K1226_splice|PTPRF_uc001cju.3_Splice_Site_p.K613_splice|PTPRF_uc009vwt.3_Splice_Site_p.K795_splice|PTPRF_uc001cjv.3_Splice_Site_p.K695_splice|PTPRF_uc001cjw.3_Splice_Site_p.K461_splice NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 1235 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCGGGCCACAGAAGCGCTATG 0.627000 105 28 0 0 1 0 0 DTX3 196403 broad.mit.edu 37 12 58002312 58002312 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:58002312C>T uc001sow.1 + 5 1097 c.760C>T c.(760-762)Cca>Tca p.P254S DTX3_uc001sox.1_Missense_Mutation_p.P247S|DTX3_uc001soy.1_Missense_Mutation_p.P247S|ARHGEF25_uc009zpy.3_5'Flank|ARHGEF25_uc001soz.1_5'Flank|ARHGEF25_uc001spb.3_5'Flank|ARHGEF25_uc001spa.3_5'Flank NM_178502 NP_848597 Q8N9I9 DTX3_HUMAN Homo sapiens deltex homolog 3 (Drosophila) (DTX3), mRNA. 254 Notch signaling pathway cytoplasm zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1) 12 Melanoma(17;0.122) GGCTGAACACCCAAACCCAGG 0.612000 55 11 0 0 1 0 0 SCEL 8796 broad.mit.edu 37 13 78192159 78192159 + Missense_Mutation SNP T A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:78192159T>A uc001vki.3 + 26 1762 c.1592T>A c.(1591-1593)aTt>aAt p.I531N SCEL_uc010thx.2_Missense_Mutation_p.I489N|SCEL_uc001vkj.3_Missense_Mutation_p.I511N NM_144777 NP_659001 O95171 SCEL_HUMAN Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. 531 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) GACAATCTTATTAAAGTGAAA 0.368000 118 27 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73569287 73569287 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:73569287G>A uc002joh.3 + 19 2807 c.2653G>A c.(2653-2655)Gtg>Atg p.V885M LLGL2_uc002joi.3_Missense_Mutation_p.V885M|LLGL2_uc010dgg.2_Missense_Mutation_p.V885M|LLGL2_uc002joj.3_Missense_Mutation_p.V874M|LLGL2_uc010wsd.2_Missense_Mutation_p.V512M NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA. 885 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CAAGCCCCAGGTGCGCTACAG 0.652000 64 34 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2027386 2027386 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:2027386G>A uc002cnu.1 + 15 1803 c.1701G>A c.(1699-1701)ctG>ctA p.L567L TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.L453L|TBL3_uc010bsc.1_Silent_p.L434L|TBL3_uc010uvt.1_Silent_p.L36L|TBL3_uc002cnw.1_5'Flank NM_006453 NP_006444 Q12788 TBL3_HUMAN Homo sapiens transducin (beta)-like 3 (TBL3), mRNA. 567 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity p.V566L(1) breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 CTTCTGTGCTGAAGGTGGCCT 0.657000 60 30 0 0 1 0 0 IL7 3574 broad.mit.edu 37 8 79710406 79710406 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:79710406G>A uc003ybg.3 - 1 649 c.48C>T c.(46-48)atC>atT p.I16I IL7_uc022awh.1_Silent_p.I16I|IL7_uc022awi.1_Silent_p.I16I|IL7_uc022awj.1_Silent_p.I16I|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript NM_000880 NP_000871 P13232 IL7_HUMAN Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA. 16 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding endometrium(2)|large_intestine(2)|lung(1) 5 ACAGAACAAGGATCAGGGGAG 0.358000 53 34 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77325201 77325201 + Missense_Mutation SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:77325201T>C uc002ffc.4 - 20 3783 c.3364A>G c.(3364-3366)Aac>Gac p.N1122D NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 1122 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 GCTACCATGTTGTACACTGGA 0.498000 120 48 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107266729 107266729 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr9:107266729C>T uc011lvm.2 + 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGTACCTCTTCCTCAGCAATC 0.478000 86 63 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12541096 12541097 + Missense_Mutation DNP GG AA AA TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:12541096_12541097GG>AA uc002mtu.3 - 3 2087_2088 c.1889_1890CC>TT c.(1888-1890)tcc>tTT p.S630F NM_005815 NP_005806 Q9Y2A4 ZN443_HUMAN Homo sapiens zinc finger protein 443 (ZNF443), mRNA. 630 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 GTCTATGCAAGGAACTGAGAGA 0.401000 131 28 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38938469 38938469 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:38938469G>A uc021wvy.1 - 13 2469 c.2270C>T c.(2269-2271)tCc>tTc p.S757F SCN11A_uc010hhn.1_5'Flank NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 757 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) CACTAGGAAGGAGTGCCAGAA 0.488000 68 27 0 0 1 0 0 ST8SIA4 7903 broad.mit.edu 37 5 100147736 100147736 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:100147736C>T uc003knk.3 - 4 1223 c.895G>A c.(895-897)Gga>Aga p.G299R NM_005668 NP_005659 Q92187 SIA8D_HUMAN Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA. 299 N-glycan processing|axon guidance integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1) 25 all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203) COAD - Colon adenocarcinoma(37;0.00402) GGCCAGAATCCATACAGGTGA 0.398000 77 25 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144874420 144874420 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:144874420G>A uc003yzp.1 - 31 4491 c.4484C>T c.(4483-4485)gCc>gTc p.A1495V SCRIB_uc003yzn.1_Missense_Mutation_p.A228V|SCRIB_uc003yzo.1_Missense_Mutation_p.A1495V NM_015356 NP_056171 Q14160 SCRIB_HUMAN Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA. 1495 activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction Scrib-APC-beta-catenin complex|cell-cell adherens junction protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) ACGCTTCTCGGCCTCCAGGGC 0.731000 11 4 0 0 1 0 0 FAM86HP 729375 broad.mit.edu 37 3 129821650 129821650 + RNA SNP G A A rs56088005 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:129821650G>A uc003ene.2 - 1 c.266C>T FAM86HP_uc011ble.1_Non-coding_Transcript Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA. GGTTGCGGACGGTAAAGGCCA 0.667000 111 8 0 0 1 0 0 RBL1 5933 broad.mit.edu 37 20 35695516 35695516 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:35695516G>A uc002xgi.3 - 4 644 c.565C>T c.(565-567)Cgg>Tgg p.R189W RBL1_uc002xgj.1_Missense_Mutation_p.R189W|RBL1_uc010gfv.1_Non-coding_Transcript NM_002895 NP_002886 P28749 RBL1_HUMAN Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA. 189 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) CCAATCATCCGAAAATTACCT 0.353000 66 23 0 0 1 0 0 PBLD 64081 broad.mit.edu 37 10 70048327 70048327 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:70048327C>T uc001jns.1 - 7 807 c.604G>A c.(604-606)Gga>Aga p.G202R PBLD_uc001jnr.1_Missense_Mutation_p.G169R|PBLD_uc001jnt.1_Missense_Mutation_p.G202R|PBLD_uc001jnu.1_Missense_Mutation_p.G202R|PBLD_uc001jnv.1_3'UTR NM_022129 NP_071412 P30039 PBLD_HUMAN Homo sapiens phenazine biosynthesis-like protein domain containing (PBLD), transcript variant 1, mRNA. 202 biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 CCAGGCTCTCCTTTAAGGGTA 0.458000 42 15 0 0 1 0 0 CCDC73 493860 broad.mit.edu 37 11 32663547 32663547 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:32663547C>T uc001mtv.3 - 12 1065 c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K CCDC73_uc001mtw.1_Missense_Mutation_p.E331K NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA. 341 p.H340R(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) AGTGCTTTTTCATGCTCATTT 0.249000 27 10 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103291146 103291146 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:103291146G>A uc003ykr.2 - 43 6651 c.6196C>T c.(6196-6198)Ctt>Ttt p.L2066F UBR5_uc003yks.2_Missense_Mutation_p.L2066F NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 2066 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 p.L2066F(2) 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) CGGCCAAAAAGATCCTCCTTT 0.363000 211 79 0 0 1 0 0 CTSE 1510 broad.mit.edu 37 1 206317619 206317619 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:206317619G>A uc001hdu.3 + 0 161 c.43G>A c.(43-45)Gga>Aga p.G15R CTSE_uc001hdv.3_Missense_Mutation_p.G15R|CTSE_uc010prs.2_5'UTR NM_001910 NP_001901 P14091 CATE_HUMAN Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA. 15 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3) 16 BRCA - Breast invasive adenocarcinoma(75;0.0754) CCTGGAGCTGGGAGAGGCCCA 0.597000 62 14 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77666905 77666905 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:77666905G>A uc011bgk.2 + 22 4190 c.3547G>A c.(3547-3549)Gat>Aat p.D1183N ROBO2_uc021xat.1_Missense_Mutation_p.D1195N|ROBO2_uc003dpy.4_Missense_Mutation_p.D1179N|ROBO2_uc003dpz.3_Missense_Mutation_p.D1183N|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.D306N NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA. 1179 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CTATCAGTTTGATATAGCAAA 0.418000 60 29 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76024398 76024398 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:76024398G>A uc010kbe.3 - 5 1689 c.1159C>T c.(1159-1161)Cga>Tga p.R387* FILIP1_uc003phy.1_Nonsense_Mutation_p.R384*|FILIP1_uc003phz.3_Nonsense_Mutation_p.R285*|FILIP1_uc003pia.3_Nonsense_Mutation_p.R384*|FILIP1_uc003pib.1_Nonsense_Mutation_p.R136* NM_015687 NP_056502 Q7Z7B0 FLIP1_HUMAN Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA. 384 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 ACACGCTTTCGAAGATTTTCC 0.418000 194 42 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53457582 53457582 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:53457582C>T uc001sbp.3 + 28 4281 c.4146C>T c.(4144-4146)caC>caT p.H1382H TENC1_uc001sbl.3_Silent_p.H1258H|TENC1_uc001sbn.3_Silent_p.H1392H|TENC1_uc001sbq.3_Silent_p.H780H|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Silent_p.H875H NM_170754 NP_938072 Q63HR2 TENC1_HUMAN Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA. 1382 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 ATGTGTGTCACCTCTTTGCAG 0.532000 161 67 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936681 15936681 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:15936681G>A uc003jfn.1 + 3 1343 c.862G>A c.(862-864)Gaa>Aaa p.E288K NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA. 288 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GCTGGAGGACGAAGGCCTGCA 0.622000 34 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048951 9048951 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9048951G>A uc002mkp.3 - 4 32884 c.32680C>T c.(32680-32682)Cca>Tca p.P10894S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10896 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 GTCAGAATTGGAATAGTTGTA 0.483000 95 47 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 28807516 28807516 + Nonsense_Mutation SNP T A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:28807516T>A uc004dby.2 + 1 564 c.56T>A c.(55-57)tTg>tAg p.L19* NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA. 19 Ig-like C2-type 1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 ACTCAGAGTTTGAAGGTTGTG 0.383000 23 28 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28542786 28542786 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:28542786C>T uc003nlo.3 - 2 2314 c.1696G>A c.(1696-1698)Gaa>Aaa p.E566K NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN Homo sapiens SCAN domain containing 3 (SCAND3), mRNA. 566 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 ATGTTTTCTTCATACTGGGCT 0.403000 90 46 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411967 126411967 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:126411967C>T uc003ifj.4 + 16 13990 c.13990C>T c.(13990-13992)Ccc>Tcc p.P4664S FAT4_uc011cgp.2_Missense_Mutation_p.P2905S|FAT4_uc003ifi.1_Missense_Mutation_p.P2141S NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4664 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAGGCAATCCCCCATGCCCTT 0.512000 73 27 0 0 1 0 0 BLK 640 broad.mit.edu 37 8 11407720 11407720 + Missense_Mutation SNP C A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:11407720C>A uc003wty.3 + 5 1002 c.421C>A c.(421-423)Cca>Aca p.P141T NM_001715 NP_001706 P51451 BLK_HUMAN Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA. 141 SH2. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) GCTTCTTGCTCCAATCAACAA 0.552000 65 20 1.96895e-08 1.98251e-08 1 1 0 CDC25B 994 broad.mit.edu 37 20 3784082 3784083 + Missense_Mutation DNP CC TT TT rs141229949 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:3784082_3784083CC>TT uc002wjn.3 + 13 2166_2167 c.1388_1389CC>TT c.(1387-1389)gcc>gTT p.A463V CDC25B_uc010zqk.2_Missense_Mutation_p.A399V|CDC25B_uc010zql.2_Missense_Mutation_p.A385V|CDC25B_uc010zqm.2_Missense_Mutation_p.A372V|CDC25B_uc002wjl.3_Missense_Mutation_p.A351V|CDC25B_uc002wjm.3_Missense_Mutation_p.A351V|CDC25B_uc021waa.1_Missense_Mutation_p.A310V|CDC25B_uc002wjo.3_Missense_Mutation_p.A449V|CDC25B_uc002wjp.3_Missense_Mutation_p.A422V|CDC25B_uc002wjq.3_Missense_Mutation_p.A263V NM_021873 NP_068659 P30305 MPIP2_HUMAN Homo sapiens cell division cycle 25 homolog B (S. pombe) (CDC25B), transcript variant 1, mRNA. 463 Rhodanese. G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of cell proliferation cytosol|microtubule organizing center|nucleoplasm protein binding|protein tyrosine phosphatase activity NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1) 18 GAACGCGACGCCGAGAGCTTCC 0.624000 58 26 0 0 1 0 0 SFTPB 6439 broad.mit.edu 37 2 85894911 85894911 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:85894911G>A uc002sqj.3 - 2 222 c.122C>T c.(121-123)tCc>tTc p.S41F SFTPB_uc002sqi.3_Missense_Mutation_p.S41F|SFTPB_uc002sqh.3_Missense_Mutation_p.S41F NM_000542 NP_942140 P07988 PSPB_HUMAN Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA. 29 Saposin A-type. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome p.S29F(1) central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3) 16 ACAGGCCAAGGATGAGGTGGT 0.577000 50 16 0 0 1 0 0 GLI1 2735 broad.mit.edu 37 12 57861986 57861986 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:57861986G>A uc001snx.3 + 9 1381 c.1287G>A c.(1285-1287)ctG>ctA p.L429L GLI1_uc021qzi.1_Silent_p.L388L|GLI1_uc009zpq.3_Silent_p.L301L NM_005269 NP_001153517 P08151 GLI1_HUMAN Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. 429 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) AAAGCAGACTGACTGTGCCAG 0.612000 21 18 0 0 1 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150439301 150439301 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:150439301C>T uc022apw.1 + 5 826 c.686C>T c.(685-687)cCa>cTa p.P229L GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.P25L NM_001199577 NP_001186506 Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA. TCTGCAACACCACCGGCATTG 0.453000 116 26 0 0 1 0 0 C1orf127 148345 broad.mit.edu 37 1 11009763 11009763 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:11009763G>A uc010oao.2 - 10 1208 c.1208C>T c.(1207-1209)tCc>tTc p.S403F C1orf127_uc001ars.2_Missense_Mutation_p.S264F|C1orf127_uc001arr.2_Missense_Mutation_p.S246F NM_001170754 NP_001164225 B7ZLG7 B7ZLG7_HUMAN Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA. 254 p.G402W(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) CCACACCTGGGAGGAAGCAGC 0.647000 12 3 0 0 1 0 0 PCBD2 84105 broad.mit.edu 37 5 134294749 134294749 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:134294749G>A uc010jdz.3 + 2 256 c.236G>A c.(235-237)cGa>cAa p.R79Q NM_032151 NP_115527 Q9H0N5 PHS2_HUMAN Homo sapiens pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2 (PCBD2), mRNA. 79 positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process 4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding kidney(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) TTTATGTCCCGAGTTGCCCTA 0.413000 60 20 0 0 1 0 0 AGTR2 186 broad.mit.edu 37 X 115304477 115304477 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:115304477C>T uc022cdd.1 + 0 944 c.944C>T c.(943-945)cCg>cTg p.P315L AGTR2_uc004eqh.4_Missense_Mutation_p.P315L NM_000686 NP_000677 P50052 AGTR2_HUMAN Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA. 315 G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TGCGTTAATCCGTTTCTGTAT 0.463000 62 77 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2946352 2946353 + Missense_Mutation DNP CT TC TC TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:2946352_2946353CT>TC uc003smv.3 - 24 3718_3719 c.3384_3385AG>GA c.(3382-3387)gtagag>gtGAag p.E1129K NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 1129 Guanylate kinase-like. T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) AGCAGCTCCTCTACGCTGCCCC 0.663000 Mis DLBCL 65 23 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73718592 73718592 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:73718592C>T uc002sje.1 + 9 9614 c.9503C>T c.(9502-9504)tCc>tTc p.S3168F ALMS1_uc002sjf.1_Missense_Mutation_p.S3126F|ALMS1_uc002sjg.3_Missense_Mutation_p.S2556F|ALMS1_uc002sjh.1_Missense_Mutation_p.S2556F NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 3168 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 GAAGGACATTCCAATCCAGAG 0.403000 49 27 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101735415 101735415 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:101735415C>T uc003knn.3 - 9 1830 c.1658G>A c.(1657-1659)gGa>gAa p.G553E SLCO6A1_uc003kno.3_Missense_Mutation_p.G300E|SLCO6A1_uc003knp.3_Missense_Mutation_p.G553E|SLCO6A1_uc003knq.3_Missense_Mutation_p.G491E NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA. 553 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AGTTATTAATCCTTCTTTAAT 0.323000 62 30 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216091 20216091 + Missense_Mutation SNP T G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:20216091T>G uc010tkt.2 + 0 505 c.505T>G c.(505-507)Ttc>Gtc p.F169V NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P168S(1) NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCAGCTGCCTTTCTGTGGGCC 0.512000 111 9 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080470 194080470 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:194080470G>A uc003ftt.3 - 2 1446 c.1321C>T c.(1321-1323)Cgc>Tgc p.R441C LRRC15_uc003ftu.3_Missense_Mutation_p.R435C|LRRC15_uc021xiy.1_Missense_Mutation_p.R435C NM_001135057 NP_570843 Q8TF66 LRC15_HUMAN Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA. 435 LRRCT. integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 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;4.94e-05) AGCCAGTTGCGGAGCGGAAGG 0.562000 28 11 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453137 + Missense_Mutation DNP AC TT TT rs121913377 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:140453136_140453137AC>TT uc003vwc.4 - 14 1859_1860 c.1798_1799GT>AA c.(1798-1800)gtg>AAg p.V600K 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.V600M(43)|p.V600D(40)|p.V600L(37)|p.V600_K601>E(30)|p.V600A(24)|p.V600G(22)|p.T599_V600insT(9)|p.A598_T599insV(7)|p.T599I(5)|p.V600Q(4)|p.T599_V600>IAL(4)|p.T599_R603>I(4)|p.T599_V600insTT(4)|p.T599_V600insDFGLAT(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) TCGAGATTTCACTGTAGCTAGA 0.366000 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)|V600M(IGR1_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 90 71 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166897748 166897748 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:166897748C>T uc002udo.4 - 14 2635 c.2408G>A c.(2407-2409)gGa>gAa p.G803E SCN1A_uc010fpk.3_Missense_Mutation_p.G775E|SCN1A_uc021vsb.1_Missense_Mutation_p.G792E NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 803 voltage-gated sodium channel complex voltage-gated sodium channel activity 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) TACCAAGTTTCCTACTGTAAG 0.363000 68 13 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49227424 49227424 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:49227424C>T uc010zyt.2 - 5 643 c.392G>A c.(391-393)aGg>aAg p.R131K FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.R127K|FAM65C_uc002xvn.1_Missense_Mutation_p.R127K NM_080829 NP_543019 Q96MK2 FA65C_HUMAN Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA. 127 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 CCGAATGTGCCTTTCCACACA 0.597000 99 6 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13830235 13830235 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:13830235G>A uc003jfd.2 - 36 6191 c.6149C>T c.(6148-6150)tCc>tTc p.S2050F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2050 AAA 1 (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) CAGAATAATGGAAATTTGCTG 0.398000 Kartagener syndrome 71 19 0 0 1 0 0 TPST2 8459 broad.mit.edu 37 22 26937530 26937530 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:26937530G>A uc003acw.3 - 2 408 c.67C>T c.(67-69)Cag>Tag p.Q23* TPST2_uc003acx.3_Nonsense_Mutation_p.Q23*|TPST2_uc011akf.1_Nonsense_Mutation_p.Q23* NM_001008566 NP_003586 O60704 TPST2_HUMAN Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA. 23 peptidyl-tyrosine sulfation Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1)|large_intestine(1)|lung(5) 7 TGTCCCAGCTGAACCGCCAGC 0.741000 22 4 0 0 1 0 0 MAU2 23383 broad.mit.edu 37 19 19456163 19456163 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:19456163C>T uc002nmk.4 + 11 1245 c.1206C>T c.(1204-1206)ttC>ttT p.F402F MAU2_uc002nml.4_Silent_p.F8F|MAU2_uc010ecd.3_Silent_p.F8F|MAU2_uc010ece.3_5'Flank NM_015329 NP_056144 Q9Y6X3 SCC4_HUMAN Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA. 402 cell division|maintenance of mitotic sister chromatid cohesion SMC loading complex|chromatin|nucleoplasm protein N-terminus binding NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 18 AAGCCCAGTTCACCACGGCCC 0.642000 79 27 0 0 1 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665209 6665209 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:6665209C>T uc002mfk.2 - 4 833 c.451G>A c.(451-453)Ggt>Agt p.G151S TNFSF14_uc002mfj.2_Missense_Mutation_p.G115S NM_003807 NP_003798 O43557 TNF14_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA. 151 T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding p.G150G(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 CAGCCCACACCGCCCAGCTGC 0.657000 45 15 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100417783 100417783 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:100417783G>A uc003uwn.1 - 4 1435 c.944C>T c.(943-945)cCc>cTc p.P315L EPHB4_uc003uwm.1_Missense_Mutation_p.P222L|EPHB4_uc010lhj.1_Missense_Mutation_p.P315L|EPHB4_uc011kkf.1_Missense_Mutation_p.P315L|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.P315L NM_004444 NP_004435 P54760 EPHB4_HUMAN Homo sapiens EPH receptor B4 (EPHB4), mRNA. 315 Cys-rich. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TGCACCCCGGGGGTCTGTGCG 0.642000 66 26 0 0 1 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33409113 33409113 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:33409113C>T uc011dri.2 + 11 2272 c.2077C>T c.(2077-2079)Cat>Tat p.H693Y SYNGAP1_uc010juy.3_Missense_Mutation_p.H678Y|SYNGAP1_uc010juz.3_Missense_Mutation_p.H405Y NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA. 693 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 CTCCACACTGCATGCCCTACT 0.552000 76 6 0 0 1 0 0 XRCC1 7515 broad.mit.edu 37 19 44056249 44056249 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:44056249G>A uc002owt.2 - 8 1122 c.1002C>T c.(1000-1002)ttC>ttT p.F334F XRCC1_uc010xwp.1_Silent_p.F303F NM_006297 NP_006288 P18887 XRCC1_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA. 334 BRCT 1. base-excision repair|single strand break repair nucleoplasm damaged DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Prostate(69;0.0153) GCTCGGAGCGGAAGGGGTTCT 0.647000 Other BER factors 60 11 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74637424 74637424 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:74637424C>T uc002axt.2 - 2 741 c.586G>A c.(586-588)Ggg>Agg p.G196R CYP11A1_uc002axs.2_Missense_Mutation_p.G38R|CYP11A1_uc010bjm.1_Missense_Mutation_p.G38R|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.3_Missense_Mutation_p.G196R NM_000781 NP_001093243 P05108 CP11A_HUMAN Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 196 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CTGATGTCCCCCGAGTAATTT 0.582000 57 15 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32379123 32379123 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:32379123C>T uc002wzy.3 + 14 2385 c.2365C>T c.(2365-2367)Ccc>Tcc p.P789S ZNF341_uc002wzx.3_Missense_Mutation_p.P782S|ZNF341_uc010geq.3_Missense_Mutation_p.P699S|ZNF341_uc010ger.3_Non-coding_Transcript|ZNF341_uc002wzz.3_Missense_Mutation_p.P216S NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN Homo sapiens zinc finger protein 341 (ZNF341), mRNA. 789 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CGAGGCTGTCCCCGGCAAGCC 0.692000 36 9 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679259 176679259 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:176679259G>A uc001gkz.3 + 10 4762 c.3598G>A c.(3598-3600)Gaa>Aaa p.E1200K PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1200 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CTCCTCTCATGAAGACAAGAA 0.443000 79 46 0 0 1 0 0 AMPD1 270 broad.mit.edu 37 1 115218614 115218614 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:115218614G>A uc001efe.2 - 10 1546 c.1498C>T c.(1498-1500)Cgt>Tgt p.R500C AMPD1_uc001eff.2_Missense_Mutation_p.R496C NM_000036 NP_000027 P23109 AMPD1_HUMAN Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA. 467 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 45 all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) Adenosine monophosphate(DB00131) TTCTTGGAACGGAACACATCA 0.428000 86 41 0 0 1 0 0 USP26 83844 broad.mit.edu 37 X 132160102 132160102 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:132160102G>A uc011mvf.2 - 0 2199 c.2147C>T c.(2146-2148)cCt>cTt p.P716L USP26_uc010nrm.1_Missense_Mutation_p.P716L NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 716 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) ATCTTTAGTAGGATTGATAAT 0.348000 29 34 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133099306 133099306 + Nonsense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:133099306C>T uc003epi.3 + 3 1021 c.751C>T c.(751-753)Cag>Tag p.Q251* TMEM108_uc003eph.3_Nonsense_Mutation_p.Q251*|TMEM108_uc003epj.1_Nonsense_Mutation_p.Q251*|TMEM108_uc003epk.3_Intron NM_001136469 NP_076432 Q6UXF1 TM108_HUMAN Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA. 251 integral to membrane p.Q251H(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ACCACAGCCCCAGACAGTGGC 0.627000 33 9 0 0 1 0 0 USP2 9099 broad.mit.edu 37 11 119244171 119244171 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:119244171G>A uc001pwm.4 - 1 315 c.20C>T c.(19-21)aCc>aTc p.T7I USP2_uc001pwn.4_Intron NM_004205 NP_004196 O75604 UBP2_HUMAN Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA. 7 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) GCGCTTCAGGGTGGAGGAGAG 0.602000 19 4 0 0 1 0 0 BCAS1 8537 broad.mit.edu 37 20 52570057 52570057 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr20:52570057C>T uc002xws.2 - 10 1932 c.1594G>A c.(1594-1596)Gac>Aac p.D532N BCAS1_uc010zza.1_Missense_Mutation_p.D198N|BCAS1_uc010zzb.1_Missense_Mutation_p.D458N|BCAS1_uc010gim.2_Missense_Mutation_p.D388N|BCAS1_uc002xwt.2_Missense_Mutation_p.D518N|BCAS1_uc010gil.1_Missense_Mutation_p.D454N NM_003657 NP_003648 O75363 BCAS1_HUMAN Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA. 532 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GAGTTCGTGTCCACCGTGGCC 0.542000 102 32 0 0 1 0 0 OR6C3 254786 broad.mit.edu 37 12 55725800 55725800 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:55725800G>A uc010spj.2 + 0 316 c.316G>A c.(316-318)Gtg>Atg p.V106M NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA. 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 CTTCATGGGGGTGACTGAATT 0.433000 134 59 0 0 1 0 0 ANP32AP1 723972 broad.mit.edu 37 15 35530034 35530034 + RNA SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:35530034G>A uc001ziy.3 + 0 c.508G>A Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA. CCTggaggaggaggaggagga 0.577000 33 12 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155102325 155102325 + Splice_Site SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:155102325G>A uc002tyt.4 + 5 791 c.687_splice c.e5-1 p.R229_splice GALNT13_uc002tyr.4_Splice_Site_p.R229_splice|GALNT13_uc010foc.1_Splice_Site_p.R48_splice|GALNT13_uc010fod.3_Splice_Site NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 229 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 TTCTCTGCAGGAAAACGGTTG 0.318000 87 17 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 121126303 121126303 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:121126303C>T uc003eec.4 + 23 3013 c.2873C>T c.(2872-2874)gCc>gTc p.A958V STXBP5L_uc011bji.2_Missense_Mutation_p.A934V NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 958 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GAAAAACAAGCCAAAGTCTTC 0.388000 124 56 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73046564 73046564 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:73046564C>T uc001jro.3 + 4 1122 c.671C>T c.(670-672)aCc>aTc p.T224I UNC5B_uc001jrp.3_Missense_Mutation_p.T224I NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA. 224 Ig-like C2-type. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GCCAACTATACCTGCGTGGCC 0.627000 107 74 0 0 1 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169104 50169104 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:50169104C>T uc002ppa.3 + 0 706 c.24C>T c.(22-24)ttC>ttT p.F8F IRF3_uc002poy.2_5'UTR|IRF3_uc021uxp.1_5'UTR|IRF3_uc021uxq.1_5'UTR|IRF3_uc002pot.2_5'UTR|IRF3_uc021uxr.1_5'UTR|IRF3_uc021uxs.1_5'UTR|IRF3_uc002pow.3_5'UTR|IRF3_uc021uxo.1_5'UTR|IRF3_uc002pou.3_5'UTR|IRF3_uc010end.2_5'UTR|IRF3_uc002poz.1_5'UTR|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Silent_p.F8F NM_138639 NP_619580 Q9HB09 B2L12_HUMAN Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA. 8 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) CTGGGCTGTTCCCGCCCCTAT 0.542000 48 25 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138030126 138030126 + Nonsense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:138030126C>T uc002tva.1 + 9 2197 c.2197C>T c.(2197-2199)Cga>Tga p.R733* THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Nonsense_Mutation_p.R623* NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AAAACAGTCTCGATACAGAAT 0.398000 26 11 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31604561 31604561 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:31604561G>A uc002rnv.1 - 11 1149 c.1070C>T c.(1069-1071)cCc>cTc p.P357L NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 357 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GTCGGAGATGGGGCTGGCAGT 0.582000 17 5 0 0 1 0 0 GJD2 57369 broad.mit.edu 37 15 35044942 35044942 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:35044942G>A uc001zis.1 - 1 703 c.703C>T c.(703-705)Ccc>Tcc p.P235S AK092087_uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA. 235 synaptic transmission connexon complex|integral to membrane gap junction channel activity p.P235P(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) TTGATGCAGGGGTAGCGGTTA 0.478000 47 18 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169336585 169336585 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:169336585G>A uc021xuh.1 - 20 3063 c.2953C>T c.(2953-2955)Ccc>Tcc p.P985S DDX60L_uc003irq.4_Missense_Mutation_p.P985S|DDX60L_uc003irr.1_Missense_Mutation_p.P985S|DDX60L_uc003irs.1_Missense_Mutation_p.P680S NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA. 985 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) GCAGCACAGGGATGAAAATGA 0.348000 22 10 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7808948 7808948 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:7808948A>G uc002gjd.2 + 26 4327 c.4325A>G c.(4324-4326)cAg>cGg p.Q1442R CHD3_uc002gje.2_Missense_Mutation_p.Q1383R|CHD3_uc002gjf.2_Missense_Mutation_p.Q1383R|CHD3_uc002gjh.2_5'UTR|SCARNA21_uc002gji.1_5'Flank NM_001005271 NP_001005271 Q12873 CHD3_HUMAN Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA. 1383 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GGGCGTAGACAGTCAAAGAGG 0.567000 8 6 0 0 1 0 0 SSTR3 6753 broad.mit.edu 37 22 37603308 37603308 + Missense_Mutation SNP C T T rs149879896 byFrequency TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr22:37603308C>T uc003ara.3 - 1 597 c.535G>A c.(535-537)Gtg>Atg p.V179M SSTR3_uc003arb.3_Missense_Mutation_p.V179M|SSTR3_uc021wos.1_Missense_Mutation_p.V179M NM_001051 NP_001042 P32745 SSR3_HUMAN Homo sapiens somatostatin receptor 3 (SSTR3), mRNA. 179 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 GAGAAGACCACCACGGGCAGC 0.731000 27 7 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765601 77765601 + Silent SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:77765601T>C uc003yau.2 + 9 6831 c.6444T>C c.(6442-6444)ttT>ttC p.F2148F ZFHX4_uc003yaw.1_Silent_p.F2103F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2103 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GGGCTTATTTTGACATTAATA 0.398000 HNSCC(33;0.089) 66 19 0 0 1 0 0 ANKK1 255239 broad.mit.edu 37 11 113270413 113270413 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:113270413G>A uc001pny.3 + 7 1816 c.1722G>A c.(1720-1722)ctG>ctA p.L574L NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA. 574 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GCAAATACCTGATCTGCAAGA 0.627000 5 3 0 0 1 0 0 THSD1 55901 broad.mit.edu 37 13 52960200 52960200 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:52960200G>A uc001vgo.3 - 3 1688 c.1143C>T c.(1141-1143)tcC>tcT p.S381S THSD1_uc001vgp.3_Intron|THSD1_uc010tgz.2_Silent_p.S2S NM_018676 NP_061146 Q9NS62 THSD1_HUMAN Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA. 381 TSP type-1. extracellular region|integral to membrane|intracellular membrane-bounded organelle breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.8e-08) AGGCCTCCAAGGACATTCCAG 0.557000 40 12 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70486792 70486792 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:70486792G>A uc001dep.3 + 13 1441 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K LRRC7_uc009wbg.3_Silent_p.T2T NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 471 centrosome|focal adhesion|nucleolus protein binding p.D470N(1) breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 AGAAGATGACGAAAATGCTGG 0.388000 71 21 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228433355 228433355 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:228433355G>A uc009xez.1 + 11 3767 c.3723G>A c.(3721-3723)ggG>ggA p.G1241G OBSCN_uc001hsn.3_Silent_p.G1241G NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 1241 Ig-like 12. 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) GCGAGGCTGGGGGCCAGAGAG 0.512000 107 37 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40315719 40315719 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:40315719G>A uc002hzb.2 - 12 2715 c.2382C>T c.(2380-2382)tcC>tcT p.S794S NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA. 794 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGCCGTGAGGGGAGGCACTGT 0.657000 8 3 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9060381 9060381 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9060381A>G uc002mkp.3 - 2 27269 c.27065T>C c.(27064-27066)gTt>gCt p.V9022A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9024 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 CTTGTAAGGAACAGTGCTTGG 0.517000 90 13 0 0 1 0 0 SERPINA10 51156 broad.mit.edu 37 14 94756559 94756559 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:94756559G>A uc001yct.3 - 1 838 c.372C>T c.(370-372)atC>atT p.I124I SERPINA10_uc001ycu.4_Silent_p.I124I 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. 124 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) GCCCTCTCTTGATCTGGGTTT 0.597000 56 22 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82581636 82581636 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:82581636C>T uc003uhx.2 - 4 8922 c.8633G>A c.(8632-8634)gGt>gAt p.G2878D PCLO_uc003uhv.2_Missense_Mutation_p.G2878D|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2809 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 ATTTGTGACACCAACAGGAGG 0.463000 87 29 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84526599 84526599 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:84526599G>A uc004eeq.3 + 9 3075 c.2189G>A c.(2188-2190)gGa>gAa p.G730E ZNF711_uc004eep.3_Missense_Mutation_p.G684E|ZNF711_uc004eeo.3_Missense_Mutation_p.G684E|ZNF711_uc011mqy.1_Missense_Mutation_p.G283E NM_021998 NP_068838 Q9Y462 ZN711_HUMAN Homo sapiens zinc finger protein 711 (ZNF711), mRNA. 684 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TGCAAGAGAGGATTCAGACAA 0.363000 37 53 0 0 1 0 0 SP3 6670 broad.mit.edu 37 2 174820388 174820388 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:174820388C>T uc002uig.3 - 3 1383 c.852G>A c.(850-852)caG>caA p.Q284Q SP3_uc002uie.3_Silent_p.Q216Q|SP3_uc002uif.3_Silent_p.Q231Q|SP3_uc010zel.2_Silent_p.Q281Q NM_003111 NP_003102 Q02447 SP3_HUMAN Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA. 284 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent PML body protein binding|zinc ion binding EWSR1/SP3(3) NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(117;0.185) CAGTCATTGTCTGAGAACTGC 0.443000 148 31 0 0 1 0 0 SENP1 29843 broad.mit.edu 37 12 48482738 48482738 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:48482738G>A uc001rqx.3 - 4 672 c.226C>T c.(226-228)Cct>Tct p.P76S SENP1_uc001rqw.3_Missense_Mutation_p.P76S|SENP1_uc001rqy.3_5'UTR|SENP1_uc001rqz.3_5'UTR|SENP1_uc009zkx.3_Missense_Mutation_p.P76S NM_014554 NP_055369 Q9P0U3 SENP1_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA. 76 Ser-rich. activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus SUMO-specific protease activity|endopeptidase activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TCTGAGGAAGGATTATCTAAA 0.378000 9 6 0 0 1 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19413025 19413025 + RNA SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:19413025A>G uc010tcj.1 - 0 c.33085T>C Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. AATAACCTGCACATCCATGCA 0.299000 33 4 0 0 1 0 0 SMPD3 55512 broad.mit.edu 37 16 68406070 68406070 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:68406070C>T uc002ewa.3 - 2 437 c.15G>A c.(13-15)acG>acA p.T5T SMPD3_uc010cfe.3_Silent_p.T5T|SMPD3_uc010vlh.2_Silent_p.T5T NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA. 5 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) GAAAGGGGGTCGTGTACAAAA 0.627000 17 4 0 0 1 0 0 C10orf47 254427 broad.mit.edu 37 10 11894099 11894099 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:11894099C>T uc001ikx.3 + 1 177 c.23C>T c.(22-24)tCa>tTa p.S8L LOC219731_uc001iky.2_Intron NM_153256 NP_694988 Q86WR7 CJ047_HUMAN Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA. 8 Ser-rich. central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 7 CACCGGAAATCAGACGCATCT 0.622000 19 7 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129739650 129739650 + Silent SNP G A A rs2229652 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:129739650G>A uc001qfg.3 - 21 3466 c.3345C>T c.(3343-3345)atC>atT p.I1115I NFRKB_uc001qfi.3_Silent_p.I1090I|NFRKB_uc001qfh.3_Silent_p.I1113I|NFRKB_uc010sbw.1_Silent_p.I1100I|NFRKB_uc009zcr.3_Silent_p.I376I NM_006165 NP_006156 Q6P4R8 NFRKB_HUMAN Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA. 1090 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GTCCCTGCACGATGCGGATCG 0.592000 88 24 0 0 1 0 0 PCYT1B 9468 broad.mit.edu 37 X 24608226 24608226 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:24608226C>T uc004dbi.3 - 3 633 c.400G>A c.(400-402)Gaa>Aaa p.E134K PCYT1B_uc004dbk.4_Missense_Mutation_p.E134K|PCYT1B_uc004dbj.3_Missense_Mutation_p.E116K NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA. 134 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 17 Choline(DB00122) CTGAGAGCTTCGTATCTCTCG 0.443000 37 4 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67075647 67075647 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:67075647C>T uc001okj.3 + 8 1066 c.888C>T c.(886-888)atC>atT p.I296I SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.I150I NM_017857 NP_060327 Q8TE77 SSH3_HUMAN Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA. 296 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCCTGCAGATCCGCCAGGCTC 0.652000 56 10 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072508 9072508 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9072508G>A uc002mkp.3 - 2 15142 c.14938C>T c.(14938-14940)Cct>Tct p.P4980S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4982 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 GCCCCATGAGGACCTGTTTGG 0.473000 67 40 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171510756 171510756 + Missense_Mutation SNP T G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:171510756T>G uc010pmg.2 + 15 4411 c.4145T>G c.(4144-4146)gTt>gGt p.V1382G PRRC2C_uc010pmh.2_Missense_Mutation_p.V359G NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA. 1382 Arg-rich. protein C-terminus binding CAGTCAGAAGTTCCTAAACCA 0.498000 23 15 0 0 1 0 0 FAM167A 83648 broad.mit.edu 37 8 11301671 11301671 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:11301671G>A uc010lry.1 - 1 870 c.250C>T c.(250-252)Ccc>Tcc p.P84S FAM167A_uc003wtw.2_Missense_Mutation_p.P84S NM_053279 NP_444509 Q96KS9 F167A_HUMAN Homo sapiens family with sequence similarity 167, member A (FAM167A), mRNA. 84 breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1) 9 TCTCTCAGGGGGAGCAAGGGC 0.687000 61 14 0 0 1 0 0 PCDH7 5099 broad.mit.edu 37 4 31144244 31144244 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:31144244G>A uc021xnd.1 + 2 4549 c.3541G>A c.(3541-3543)Gat>Aat p.D1181N PCDH7_uc011bxx.2_Missense_Mutation_p.D1173N NM_001173523 NP_001166994 O60245 PCDH7_HUMAN Homo sapiens protocadherin 7 (PCDH7), transcript variant d, mRNA. 0 homophilic cell adhesion integral to plasma membrane calcium ion binding p.D1126Y(1) NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CATGCCTGTTGATGAACGAGG 0.537000 135 23 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42839288 42839288 + Silent SNP C G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:42839288C>G uc002otl.4 + 3 1295 c.660C>G c.(658-660)gcC>gcG p.A220A MEGF8_uc002otm.4_5'Flank NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA. 220 integral to membrane calcium ion binding|structural molecule activity p.A220D(1) breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) ACGTGAGTGCCAGGGACCCTG 0.652000 25 6 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228539042 228539042 + Missense_Mutation SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:228539042T>C uc009xez.1 + 77 18484 c.18440T>C c.(18439-18441)cTg>cCg p.L6147P OBSCN_uc001hsn.3_Missense_Mutation_p.L6147P|OBSCN_uc001hsr.1_Missense_Mutation_p.L776P|OBSCN_uc009xfa.3_5'Flank NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 6147 Ig-like 53. 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) GACGGGGCCCTGCTGACCACT 0.642000 6 3 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 GL000192.1 222841 222841 + RNA SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrGL000192.1:222841C>T uc010yij.1 - 17 c.3082G>A NM_017558 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA. 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) TCAGGCCCCTCCCACCATTTA 0.463000 29 9 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51367609 51367609 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:51367609C>T uc011bds.2 + 32 3466 c.3443C>T c.(3442-3444)tCa>tTa p.S1148L NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 1148 DHR-2. cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AGCATGGTGTCAGAAGGGAAA 0.532000 8 4 0 0 1 0 0 KLK12 43849 broad.mit.edu 37 19 51535239 51535239 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:51535239G>A uc002pvh.1 - 3 467 c.350C>T c.(349-351)cCc>cTc p.P117L KLK12_uc002pvg.1_Missense_Mutation_p.P117L|KLK12_uc010ycp.1_Non-coding_Transcript|KLK12_uc010ycq.1_Intron|KLK12_uc010ycr.1_Intron|KLK12_uc010ycs.1_Intron|KLK12_uc002pvi.1_Missense_Mutation_p.P117L|KLK12_uc002pvj.1_Intron NM_019598 NP_062544 Q9UKR0 KLK12_HUMAN Homo sapiens kallikrein-related peptidase 12 (KLK12), transcript variant 1, mRNA. 117 Peptidase S1. proteolysis extracellular region|soluble fraction serine-type endopeptidase activity endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 12 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399) TACGCGGACGGGCAGGCGCAG 0.677000 36 12 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122831503 122831503 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:122831503C>T uc003ieg.2 - 5 1672 c.1598G>A c.(1597-1599)gGa>gAa p.G533E TRPC3_uc010inr.2_Missense_Mutation_p.G405E|TRPC3_uc003ief.2_Missense_Mutation_p.G460E|TRPC3_uc011cgl.1_Missense_Mutation_p.G197E NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA. 448 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 TTCCCTAGGTCCTTCCAGCCA 0.458000 100 39 0 0 1 0 0 CHRND 1144 broad.mit.edu 37 2 233394675 233394675 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:233394675C>T uc002vsw.3 + 6 650 c.646C>T c.(646-648)Cgg>Tgg p.R216W CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.R201W|CHRND_uc010zmh.2_Intron NM_000751 NP_000742 Q07001 ACHD_HUMAN Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA. 216 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) GATAGTCCACCGGCCGGCCAG 0.647000 72 13 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138414689 138414689 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:138414689G>A uc002tva.1 + 22 4244 c.4244G>A c.(4243-4245)cGa>cAa p.R1415Q THSD7B_uc010zbj.1_Non-coding_Transcript NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AATAACGAACGAACTGTATGG 0.413000 45 9 0 0 1 0 0 SNRPN 6638 broad.mit.edu 37 15 25438295 25438295 + RNA SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:25438295G>A uc001yzf.1 + 2 c.173G>A SNRPN_uc001yzh.2_5'Flank|SNORD115-14_uc001yzj.1_5'Flank P63162 RSMN_HUMAN Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex RNA binding|identical protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) GAGCCTGGAGGAAGACTTGAA 0.592000 Prader-Willi syndrome 21 6 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30938609 30938609 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:30938609A>G uc003xio.4 + 8 1854 c.1066A>G c.(1066-1068)Aaa>Gaa p.K356E WRN_uc011lbd.1_Missense_Mutation_p.K59E|WRN_uc011lbe.1_5'Flank NM_000553 NP_000544 Q14191 WRN_HUMAN Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA. 356 DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TCATTTAGCTAAACATGATGG 0.353000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 94 69 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2326779 2326779 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:2326779C>T uc002cpy.1 - 32 5723 c.5011G>A c.(5011-5013)Gaa>Aaa p.E1671K ABCA3_uc010bsk.1_Missense_Mutation_p.E1613K NM_001089 NP_001080 Q99758 ABCA3_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA. 1671 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CCGTACTTTTCCTTGGCTTTC 0.602000 53 17 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179590734 179590734 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:179590734G>A uc021vsy.1 - 66 16808 c.16583C>T c.(16582-16584)aCc>aTc p.T5528I TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2189I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 6455 Ig-like 36. 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) ATTTTTAAGGGTTTCTACTAT 0.403000 45 8 0 0 1 0 0 OTOL1 131149 broad.mit.edu 37 3 161214630 161214630 + Missense_Mutation SNP T A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:161214630T>A uc011bpb.2 + 0 35 c.35T>A c.(34-36)aTt>aAt p.I12N NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN Homo sapiens otolin 1 (OTOL1), mRNA. 12 collagen p.L11*(1) central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 GCTATTTTAATTATTTTGGCT 0.338000 27 7 0 0 1 0 0 G6PC 2538 broad.mit.edu 37 17 41052951 41052951 + Nonsense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:41052951C>T uc002icb.1 + 0 137 c.58C>T c.(58-60)Cag>Tag p.Q20* LOC388387_uc002ibz.2_5'Flank|LOC388387_uc002iby.2_5'Flank|LOC388387_uc002ica.2_5'Flank|LOC388387_uc010whe.1_5'Flank|G6PC_uc010whf.1_Nonsense_Mutation_p.Q22* NM_000151 NP_000142 P35575 G6PC_HUMAN Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA. 20 Q -> R (in GSD1A). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding p.Q20*(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) ACATTACCTCCAGGTGAATTA 0.502000 74 42 0 0 1 0 0 LRRC16B 90668 broad.mit.edu 37 14 24525909 24525909 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:24525909C>T uc001wlj.2 + 11 1101 c.944C>T c.(943-945)tCc>tTc p.S315F NM_138360 NP_612369 Q8ND23 LR16B_HUMAN Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA. 315 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) ACTGCCATTTCCCCTCGAGGT 0.592000 27 17 0 0 1 0 0 TMEM196 256130 broad.mit.edu 37 7 19765341 19765341 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:19765341C>T uc011jyg.2 - 2 340 c.255G>A c.(253-255)ctG>ctA p.L85L TMEM196_uc003sur.3_Non-coding_Transcript NM_152774 NP_689987 Q5HYL7 TM196_HUMAN Homo sapiens transmembrane protein 196 (TMEM196), mRNA. 91 integral to membrane breast(1)|large_intestine(1)|lung(4) 6 ACTGAAAATTCAGGATGCCCC 0.493000 70 23 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132433955 132433955 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:132433955G>A uc003epe.2 - 4 1035 c.931C>T c.(931-933)Cag>Tag p.Q311* NPHP3_uc003epf.2_Nonsense_Mutation_p.Q66* NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA. 311 Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ATCTCAGGCTGGGTTTCATCT 0.323000 124 42 0 0 1 0 0 LPPR5 163404 broad.mit.edu 37 1 99380403 99380403 + Missense_Mutation SNP T A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:99380403T>A uc001dsb.3 - 4 1094 c.872A>T c.(871-873)cAg>cTg p.Q291L LPPR5_uc001dsc.3_Missense_Mutation_p.Q291L NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA. 291 integral to membrane hydrolase activity CATTGGCATCTGTGCCAGATT 0.358000 136 60 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43860573 43860573 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:43860573G>A uc010skx.2 - 8 1249 c.1249C>T c.(1249-1251)Cct>Tct p.P417S NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 417 Peptidase M12B. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTACATCTAGGATTATCATCA 0.318000 64 24 0 0 1 0 0 C3P1 388503 broad.mit.edu 37 19 10166414 10166414 + RNA SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:10166414C>T uc010dwx.2 + 15 c.2007C>T Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA. endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 GGAGAAGGGCCCTGTGGTCAT 0.562000 39 17 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203024701 203024701 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:203024701C>T uc009xaj.3 + 20 2346 c.2346C>T c.(2344-2346)tcC>tcT p.S782S PPFIA4_uc010pqf.2_Silent_p.S364S|PPFIA4_uc001gyz.3_Silent_p.S151S|PPFIA4_uc001gza.3_Silent_p.S151S|PPFIA4_uc001gzb.1_5'Flank O75335 LIPA4_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA. 151 cell communication cell surface|cytoplasm protein binding p.L781M(1) NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 CGGCCCTGTCCCTGGCCAGCG 0.642000 42 27 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36875201 36875201 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:36875201C>T uc003cgj.3 - 20 5989 c.5741G>A c.(5740-5742)aGg>aAg p.R1914K NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 1914 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 CCTACCTTCCCTGTTCAGCAG 0.542000 68 25 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3216752 3216752 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:3216752G>A uc022aqr.1 - 20 3616 c.3226C>T c.(3226-3228)Cgt>Tgt p.R1076C CSMD1_uc011kwj.2_Missense_Mutation_p.R469C|CSMD1_uc003wqe.3_Missense_Mutation_p.R233C NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1077 Sushi 6. 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) CCTTCTAAACGATATCCCAGG 0.557000 75 30 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107012978 107012978 + RNA SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:107012978C>T uc021ser.1 - 218 c.8898G>A Parts of antibodies, mostly variable regions. GGTTTTCAGGCTGTTCATTTG 0.507000 134 52 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195501064 195501064 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:195501064G>A uc021xjp.1 - 3 13212 c.13056C>T c.(13054-13056)tcC>tcT p.S4352S MUC4_uc003fuz.3_Missense_Mutation_p.P32L|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Silent_p.S93S|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Silent_p.S93S|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Silent_p.S116S|MUC4_uc003fvp.3_Silent_p.S65S NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 1109 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CACGGAGAGAGGAGCCAAGGG 0.662000 25 7 0 0 1 0 0 OPN1LW 5956 broad.mit.edu 37 X 153416195 153416195 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrX:153416195G>A uc004fjz.4 + 1 213 c.180G>A c.(178-180)atG>atA p.M60I NM_020061 NP_064445 P04000 OPSR_HUMAN Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA. 60 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 15 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTGTCTGGATGATCTTTGTGG 0.577000 36 35 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9088815 9088815 + Missense_Mutation SNP T A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:9088815T>A uc002mkp.3 - 0 3204 c.3000A>T c.(2998-3000)aaA>aaT p.K1000N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1000 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 GAGAAGTGAATTTAGAGACCA 0.483000 212 38 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99378639 99378639 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:99378639G>A uc001vno.3 - 2 163 c.86C>T c.(85-87)tCc>tTc p.S29F SLC15A1_uc001vnp.1_5'UTR NM_005073 NP_005064 P46059 S15A1_HUMAN Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA. 29 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity p.S29F(2)|p.S29S(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) TCCATAGTAGGAAAATCTTTC 0.443000 37 10 0 0 1 0 0 FAM151B 167555 broad.mit.edu 37 5 79837609 79837609 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:79837609C>T uc003kgv.2 + 5 932 c.789C>T c.(787-789)aaC>aaT p.N263N FAM151B_uc010jal.2_Non-coding_Transcript NM_205548 NP_991111 Q6UXP7 F151B_HUMAN Homo sapiens family with sequence similarity 151, member B (FAM151B), mRNA. 263 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 7 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) AACCACAAAACCATGAATTTA 0.318000 34 9 0 0 1 0 0 MFSD9 84804 broad.mit.edu 37 2 103347521 103347521 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:103347521G>A uc002tcb.2 - 2 328 c.260C>T c.(259-261)tCc>tTc p.S87F MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.S26F NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA. 87 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 AATGCCATAGGAGGAGCCTGT 0.338000 59 27 0 0 1 0 0 AP1M1 8907 broad.mit.edu 37 19 16338446 16338446 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:16338446C>T uc002ndv.2 + 7 970 c.797C>T c.(796-798)tCc>tTc p.S266F AP1M1_uc002ndu.2_Missense_Mutation_p.S254F|AP1M1_uc010xpd.1_Missense_Mutation_p.S254F NM_001130524 NP_001123996 Q9BXS5 AP1M1_HUMAN Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA. 254 MHD. cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 CGCACCATCTCCTTCATCCCA 0.617000 132 62 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17892264 17892264 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:17892264C>T uc002nhg.3 + 21 2023 c.1744C>T c.(1744-1746)Cgt>Tgt p.R582C FCHO1_uc010ebb.2_Missense_Mutation_p.R582C|FCHO1_uc002nhh.2_Missense_Mutation_p.R582C|FCHO1_uc010xpw.1_Missense_Mutation_p.R532C NM_001161357 NP_001154829 O14526 FCHO1_HUMAN Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA. 582 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 CTTCCAGTCTCGTTCCCTGAG 0.637000 50 19 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12885347 12885347 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:12885347G>A uc001auk.2 - 3 960 c.764C>T c.(763-765)tCg>tTg p.S255L NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 255 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GACCTTTAACGAGGTCTTCAG 0.493000 294 121 0 0 1 0 0 OCM 654231 broad.mit.edu 37 7 5922155 5922155 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:5922155C>T uc003spe.4 + 1 185 c.93C>T c.(91-93)ttC>ttT p.F31F NM_001097622 NP_001091091 P0CE72 ONCO_HUMAN Homo sapiens oncomodulin (OCM), mRNA. 31 calcium ion binding endometrium(1)|large_intestine(3)|lung(2) 6 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14) AAAAATTCTTCCAGACATCAG 0.458000 215 84 0 0 1 0 0 CD2AP 23607 broad.mit.edu 37 6 47541893 47541893 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:47541893G>A uc003oyw.3 + 5 1091 c.635G>A c.(634-636)cGa>cAa p.R212Q NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN Homo sapiens CD2-associated protein (CD2AP), mRNA. 212 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) AAGAAAATTCGAGGAATTGGA 0.408000 110 41 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110771024 110771024 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:110771024A>G uc001tqk.4 + 9 1786 c.1223A>G c.(1222-1224)gAt>gGt p.D408G ATP2A2_uc001tql.4_Missense_Mutation_p.D408G|ATP2A2_uc021rdt.1_Missense_Mutation_p.D256G NM_170665 NP_733765 P16615 AT2A2_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA. 408 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CACCAGTATGATGGTCTGGTA 0.418000 175 80 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5841918 5841918 + Missense_Mutation SNP T C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:5841918T>C uc010qzp.2 + 0 353 c.353T>C c.(352-354)aTg>aCg p.M118T TRIM5_uc001mbq.1_Intron NM_001005174 NP_001005174 Q8NGI0 O52N2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA. 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGGTGCTCATGCTCATGGCC 0.537000 92 18 0 0 1 0 0 C12orf36 283422 broad.mit.edu 37 12 13529218 13529218 + Missense_Mutation SNP C T T rs149562504 byFrequency TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:13529218C>T uc001rbs.2 - 1 374 c.122G>A c.(121-123)cGa>cAa p.R41Q Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA. lung(3)|skin(3) 6 BRCA - Breast invasive adenocarcinoma(232;0.198) gtcagcccttcgtttcagagg 0.522000 45 9 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15555736 15555736 + Silent SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:15555736A>G uc002rcc.1 - 24 2897 c.2871T>C c.(2869-2871)taT>taC p.Y957Y NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Non-coding_Transcript NM_015909 NP_056993 A2RRP1 NBAS_HUMAN Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA. 957 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 AAGTTACTAAATATTCTTTTA 0.378000 75 42 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126137312 126137312 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:126137312G>A uc010hsg.1 + 4 492 c.433G>A c.(433-435)Gag>Aag p.E145K CCDC37_uc003eiu.1_Missense_Mutation_p.E144K NM_182628 NP_872434 Q494V2 CCD37_HUMAN Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA. 144 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) AAAGAATGTGGAGCCTGAGAA 0.607000 36 18 0 0 1 0 0 ZNF676 163223 broad.mit.edu 37 19 22363780 22363780 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:22363780G>A uc002nqs.1 - 2 1057 c.739C>T c.(739-741)Cat>Tat p.H247Y NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 247 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) TCTCCAGTATGAATTATCTTA 0.368000 156 31 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102054402 102054402 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:102054402A>G uc001kqx.1 - 8 1932 c.1549T>C c.(1549-1551)Ttc>Ctc p.F517L PKD2L1_uc009xwm.1_Missense_Mutation_p.F470L NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA. 517 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) ATTATCCGGAACTGAGTGAAA 0.512000 100 7 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190593448 190593448 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:190593448G>A uc002uqw.2 + 14 3182 c.3094G>A c.(3094-3096)Ggg>Agg p.G1032R ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Missense_Mutation_p.G128R NM_144708 NP_653309 Q7Z5J8 ANKAR_HUMAN Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA. 1032 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) AATATGTGAAGGGAATGGAAT 0.413000 91 11 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68241765 68241765 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:68241765G>A uc001xka.2 - 26 5427 c.5288C>T c.(5287-5289)cCa>cTa p.P1763L ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P1763L NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 1763 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTCTGCTGATGGTGATCTAGG 0.443000 17 3 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53044632 53044632 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:53044632G>A uc003xqz.2 - 16 2708 c.2552C>T c.(2551-2553)cCt>cTt p.P851L ST18_uc011ldq.1_Missense_Mutation_p.P498L|ST18_uc011ldr.1_Missense_Mutation_p.P816L|ST18_uc011lds.1_Missense_Mutation_p.P756L|ST18_uc003xra.2_Missense_Mutation_p.P851L NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 851 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCCATTGAGAGGATTCTCCTT 0.498000 65 31 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61611589 61611589 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:61611589C>T uc002jay.3 + 4 1098 c.1018C>T c.(1018-1020)Cac>Tac p.H340Y KCNH6_uc002jax.1_Missense_Mutation_p.H340Y|KCNH6_uc010wpl.2_Missense_Mutation_p.H217Y|KCNH6_uc010wpm.2_Missense_Mutation_p.H340Y|KCNH6_uc002jaz.1_Missense_Mutation_p.H340Y NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 340 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CATCGCCGTCCACTACTTCAA 0.587000 57 35 0 0 1 0 0 TAS2R14 50840 broad.mit.edu 37 12 11091687 11091687 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:11091687C>T uc010shi.2 - 0 120 c.120G>A c.(118-120)aaG>aaA p.K40K PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron NM_023922 NP_076411 Q9NYV8 T2R14_HUMAN Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA. 40 detection of chemical stimulus involved in sensory perception of bitter taste bitter taste receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 8 CCGAAGAGATCTTTCTTCCCT 0.393000 54 23 0 0 1 0 0 DTX2P1-UPK3BP1-PMS2P11 441263 broad.mit.edu 37 7 76681226 76681226 + RNA SNP G C C TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:76681226G>C uc003ufy.2 + 4 c.1203G>C Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) pseudogene (LOC100132832), non-coding RNA. TGTCACACTTGAAGGAGGCAG 0.453000 6 3 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65253191 65253191 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr14:65253191G>A uc001xht.3 - 14 3543 c.3492C>T c.(3490-3492)ctC>ctT p.L1164L SPTB_uc001xhr.3_Silent_p.L1164L|SPTB_uc001xhs.3_Silent_p.L1164L|SPTB_uc001xhu.3_Silent_p.L1164L NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 1164 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) GGCACTGAGCGAGGGTGTGGC 0.622000 43 10 0 0 1 0 0 C15orf2 23742 broad.mit.edu 37 15 24924439 24924439 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:24924439G>A uc001ywo.3 + 0 3899 c.3425G>A c.(3424-3426)gGa>gAa p.G1142E NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 1142 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CACTACTATGGACAAGAAACA 0.453000 140 37 0 0 1 0 0 LRRC3B 116135 broad.mit.edu 37 3 26751770 26751770 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:26751770G>A uc003cdp.3 + 1 1196 c.607G>A c.(607-609)Gat>Aat p.D203N LRRC3B_uc003cdq.3_Missense_Mutation_p.D203N|LRRC3B_uc021wuj.1_Missense_Mutation_p.D203N NM_052953 NP_443185 Q96PB8 LRC3B_HUMAN Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA. 203 integral to membrane p.D203E(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 21 AAAAACTACCGATTATGCCAT 0.473000 30 14 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36979536 36979536 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr6:36979536G>A uc010jwp.1 + 3 604 c.433G>A c.(433-435)Gat>Aat p.D145N FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 145 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 CTTCCCAGAGGATGTGGTCAG 0.582000 78 32 0 0 1 0 0 EVI2A 2123 broad.mit.edu 37 17 29645707 29645707 + Missense_Mutation SNP T A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:29645707T>A uc002hgl.3 - 2 731 c.394A>T c.(394-396)Agc>Tgc p.S132C NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2A_uc002hgm.3_Missense_Mutation_p.S109C|EVI2A_uc021tul.1_Missense_Mutation_p.S109C NM_001003927 NP_055025 P22794 EVI2A_HUMAN Homo sapiens ecotropic viral integration site 2A (EVI2A), transcript variant 1, mRNA. 109 integral to membrane transmembrane receptor activity p.0?(8)|p.?(3) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18) TTTTCAATGCTCTGTACTGTT 0.363000 143 54 0 0 1 0 0 CDS1 1040 broad.mit.edu 37 4 85562048 85562048 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:85562048G>A uc011ccv.2 + 9 1435 c.937G>A c.(937-939)Gat>Aat p.D313N CDS1_uc010ike.1_Missense_Mutation_p.D117N NM_001263 NP_001254 Q92903 CDS1_HUMAN Homo sapiens CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 (CDS1), mRNA. 313 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1) 20 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.00101) ATACCGAAGTGATGTAAACTC 0.403000 158 65 0 0 1 0 0 F10 2159 broad.mit.edu 37 13 113798367 113798367 + Silent SNP C T T rs137995645 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr13:113798367C>T uc001vsx.3 + 5 762 c.705C>T c.(703-705)atC>atT p.I235I F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Silent_p.I235I NM_000504 NP_000495 P00742 FA10_HUMAN Homo sapiens coagulation factor X (F10), mRNA. 235 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|extracellular region calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) TCACCAGGATCGTGGGAGGCC 0.622000 65 11 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972487 92972487 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:92972487C>T uc022axs.1 - 11 2162 c.1975G>A c.(1975-1977)Gag>Aag p.E659K RUNX1T1_uc003yfc.2_Missense_Mutation_p.E573K|RUNX1T1_uc010mam.3_Missense_Mutation_p.E573K|RUNX1T1_uc003yfe.2_Missense_Mutation_p.E563K|RUNX1T1_uc003yfd.3_Missense_Mutation_p.E600K|RUNX1T1_uc022axo.1_Missense_Mutation_p.E600K|RUNX1T1_uc010mao.3_Missense_Mutation_p.E573K|RUNX1T1_uc011lgi.2_Missense_Mutation_p.E611K|RUNX1T1_uc022axp.1_Missense_Mutation_p.E600K|RUNX1T1_uc022axq.1_Missense_Mutation_p.E600K|RUNX1T1_uc022axr.1_Missense_Mutation_p.E600K|RUNX1T1_uc022axt.1_Missense_Mutation_p.E600K|RUNX1T1_uc022axu.1_Missense_Mutation_p.E580K|RUNX1T1_uc022axv.1_Missense_Mutation_p.E600K|RUNX1T1_uc010man.2_Missense_Mutation_p.E225K|RUNX1T1_uc003yfb.2_Missense_Mutation_p.E563K NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 600 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GGGGTTGTCTCTATGGTGGAA 0.567000 11 5 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140562818 140562818 + Silent SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr5:140562818C>T uc003liv.3 + 0 1839 c.684C>T c.(682-684)gtC>gtT p.V228V NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 228 Cadherin 2. 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) CTGCTCAGGTCCGTATTGAAG 0.522000 78 32 0 0 1 0 0 KRT5 3852 broad.mit.edu 37 12 52910459 52910459 + Silent SNP G A A rs60062350 TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr12:52910459G>A uc001san.3 - 6 1564 c.1401C>T c.(1399-1401)atC>atT p.I467I KRT5_uc009zmh.3_Silent_p.I467I NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 467 Coil 2.|Rod. I -> T (in DM-EBS). epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) GGTAAGTGGCGATCTCCACGT 0.587000 139 61 0 0 1 0 0 OPTC 26254 broad.mit.edu 37 1 203465214 203465214 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:203465214G>A uc001gzu.1 + 1 197 c.81G>A c.(79-81)agG>agA p.R27R NM_014359 NP_055174 Q9UBM4 OPT_HUMAN Homo sapiens opticin (OPTC), mRNA. 27 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding p.R27M(1) breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1) 20 BRCA - Breast invasive adenocarcinoma(75;0.109) GGAAGGAGAGGAAGAGGAGAG 0.552000 41 9 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31434439 31434439 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:31434439G>A uc010cap.1 + 23 2837 c.2788G>A c.(2788-2790)Gaa>Aaa p.E930K ITGAD_uc002ebv.1_Missense_Mutation_p.E929K NM_005353 NP_005344 Q13349 ITAD_HUMAN Homo sapiens integrin, alpha D (ITGAD), mRNA. 929 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CTCCAGGCAGGAAGAATCCAC 0.517000 58 9 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7768994 7768994 + Nonsense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:7768994C>T uc001ijs.3 + 9 1228 c.1066C>T c.(1066-1068)Cga>Tga p.R356* NM_002216 NP_002207 P19823 ITIH2_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA. 356 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CCAGAACATTCGAACTTGGAG 0.398000 60 37 0 0 1 0 0 SULT1C2 6819 broad.mit.edu 37 2 108910774 108910775 + Missense_Mutation DNP CC TT TT TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:108910774_108910775CC>TT uc002tdy.3 + 2 694_695 c.241_242CC>TT c.(241-243)cct>TTt p.P81F SULT1C2_uc010ywp.1_Missense_Mutation_p.L17F|SULT1C2_uc010ywq.2_Missense_Mutation_p.P81F|SULT1C2_uc002tdx.3_Missense_Mutation_p.P81F NM_001056 NP_001047 O00338 ST1C2_HUMAN Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA. 81 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 ACACCGCCATCCTTTCATTGAG 0.530000 111 20 0 0 1 0 0 CDH7 1005 broad.mit.edu 37 18 63491888 63491888 + Nonsense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr18:63491888C>T uc002lkb.3 + 5 1228 c.802C>T c.(802-804)Caa>Taa p.Q268* CDH7_uc002ljz.3_Nonsense_Mutation_p.Q268*|CDH7_uc002lka.3_Nonsense_Mutation_p.Q268* NM_004361 NP_387450 Q9ULB5 CADH7_HUMAN Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA. 268 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) AGGGTCTTATCAATATAACGT 0.368000 83 29 0 0 1 0 0 CCDC136 64753 broad.mit.edu 37 7 128445894 128445894 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr7:128445894G>A uc003vnv.2 + 6 1444 c.1028G>A c.(1027-1029)aGg>aAg p.R343K CCDC136_uc003vnu.2_Missense_Mutation_p.R381K|CCDC136_uc003vnx.2_Missense_Mutation_p.R159K|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank NM_022742 NP_073579 Q96JN2 CC136_HUMAN Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA. 343 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 CGGCTGCAGAGGGAGCTCAAG 0.567000 32 18 0 0 1 0 0 CYP11B1 1584 broad.mit.edu 37 8 143960822 143960822 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:143960822C>T uc010mey.3 - 1 321 c.314G>A c.(313-315)aGg>aAg p.R105K 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. 80 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) GCACCATCCCCTGCCCTGGCA 0.607000 Familial Hyperaldosteronism type I 37 9 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49168403 49168403 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr11:49168403C>T uc001ngy.3 - 18 2419 c.2158G>A c.(2158-2160)Gac>Aac p.D720N FOLH1_uc001ngx.3_Nonsense_Mutation_p.W119*|FOLH1_uc009yly.3_Missense_Mutation_p.D705N|FOLH1_uc009ylz.3_Missense_Mutation_p.D674N|FOLH1_uc001ngz.3_Missense_Mutation_p.D689N|FOLH1_uc009yma.3_Missense_Mutation_p.D412N NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 720 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TTGGAAGGGTCCACTTTGCTT 0.478000 96 31 0 0 1 0 0 ZXDC 79364 broad.mit.edu 37 3 126181039 126181039 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:126181039G>A uc003eiv.3 - 5 1520 c.1466C>T c.(1465-1467)cCg>cTg p.P489L ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.P489L NM_025112 NP_079388 Q2QGD7 ZXDC_HUMAN Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA. 489 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1) 17 GBM - Glioblastoma multiforme(114;0.155) AAGAGAACTCGGAGCTTCTAG 0.448000 110 30 0 0 1 0 0 IL29 282618 broad.mit.edu 37 19 39788664 39788664 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:39788664G>A uc002okv.3 + 2 407 c.310G>A c.(310-312)Gcc>Acc p.A104T NM_172140 NP_742152 Q8IU54 IL29_HUMAN Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA. 104 defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein extracellular space|interleukin-28 receptor complex cytokine activity|interleukin-28 receptor binding endometrium(2)|lung(2) 4 all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335) GGTCCTGGAGGCCGCTGCTGG 0.662000 56 10 0 0 1 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100537693 100537693 + Missense_Mutation SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr15:100537693A>G uc002bvv.1 - 18 2772 c.2693T>C c.(2692-2694)gTc>gCc p.V898A NM_139057 NP_620688 Q8TE56 ATS17_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA. 898 TSP type-1 3. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CCGCGTAGCGACGTGTGTGCC 0.687000 36 4 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27332407 27332407 + Silent SNP A G G TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:27332407A>G uc009xku.1 - 19 2281 c.2109T>C c.(2107-2109)tcT>tcC p.S703S ANKRD26_uc001itg.2_Silent_p.S389S|ANKRD26_uc001ith.2_Silent_p.S702S NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA. 702 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TCTTGTAACTAGAGTGGGGTA 0.363000 19 14 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155526125 155526125 + Missense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr4:155526125G>A uc003ioj.3 - 8 1364 c.1223C>T c.(1222-1224)aCc>aTc p.T408I FGG_uc003iog.3_Missense_Mutation_p.T408I NM_021870 NP_068656 P02679 FIBG_HUMAN Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA. 408 Fibrinogen C-terminal.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CTTCATAGTGGTTTTCTTCAT 0.463000 87 49 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12626297 12626297 + Silent SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:12626297G>A uc002gno.2 + 4 686 c.387G>A c.(385-387)gtG>gtA p.V129V MYOCD_uc002gnn.2_Silent_p.V129V|MYOCD_uc002gnp.1_Silent_p.V33V NM_001146312 NP_001139784 Q8IZQ8 MYCD_HUMAN Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA. 129 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding p.P128H(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TTCTTCCTGTGGATTCTGCTG 0.478000 133 50 0 0 1 0 0 SDHAP2 727956 broad.mit.edu 37 3 195400728 195400728 + Silent SNP A G G rs12107841 by1000genomes TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr3:195400728A>G uc003fuw.3 + 8 1218 c.24A>G c.(22-24)ccA>ccG p.P8P SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA. GATTGTGCCCAGCCTGTACGC 0.587000 50 4 0 0 1 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4967264 4967264 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chrY:4967264C>T uc004fqo.3 + 1 2379 c.1645C>T c.(1645-1647)Cgt>Tgt p.R549C PCDH11Y_uc010nwg.1_Missense_Mutation_p.R538C|PCDH11Y_uc004fql.1_Missense_Mutation_p.R538C|PCDH11Y_uc004fqm.1_Missense_Mutation_p.R538C|PCDH11Y_uc004fqn.1_Missense_Mutation_p.R549C|PCDH11Y_uc004fqp.1_Missense_Mutation_p.R320C NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA. 549 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R538C(1) autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 CAGCCTGGATCGTCGTACAGG 0.443000 20 3 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371251 48371251 + Nonsense_Mutation SNP G A A TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr10:48371251G>A uc001jex.3 + 1 881 c.719G>A c.(718-720)tGg>tAg p.W240* ZNF488_uc021ppx.1_Nonsense_Mutation_p.W240* NM_153034 NP_694579 Q96MN9 ZN488_HUMAN Homo sapiens zinc finger protein 488 (ZNF488), mRNA. 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 CCTACACTGTGGCTGGAGCAT 0.582000 44 27 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162661100 162661100 + Missense_Mutation SNP C T T TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr2:162661100C>T uc002ubx.4 + 2 456 c.272C>T c.(271-273)tCt>tTt p.S91F SLC4A10_uc010fpa.1_Missense_Mutation_p.S103F|SLC4A10_uc010zcr.1_Non-coding_Transcript|SLC4A10_uc010zcs.2_Missense_Mutation_p.S102F|SLC4A10_uc002uby.4_Missense_Mutation_p.S91F NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 91 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GAGTCACCTTCTTTTGGTAAG 0.348000 17 7 0 0 1 0 0 DDX11L9 100288486 broad.mit.edu 37 1 13417 13418 + Frame_Shift_Ins INS - GAGA GAGA TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr1:13417_13418insGAGA uc010nxq.1 + 2 496_497 c.180_181insGAGA c.(178-183)cccgagfs p.P60fs DDX11L9_uc001aaa.3_Non-coding_Transcript|DDX11L9_uc010nxr.1_Non-coding_Transcript SubName: Full=DEAD/H box polypeptide 11 like 9; TCCACCACCCCGAGATCACATT 0.559 --- 36 --- --- 8 --- CSMD3 114788 broad.mit.edu 37 8 113569025 113569025 + Frame_Shift_Del DEL T - - TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr8:113569025delT uc003ynu.3 - 24 4360 c.4201delA c.(4201-4203)aggfs p.R1401fs CSMD3_uc003yns.3_Frame_Shift_Del_p.R673fs|CSMD3_uc003ynt.3_Frame_Shift_Del_p.R1361fs|CSMD3_uc011lhx.2_Frame_Shift_Del_p.R1297fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1401 Sushi 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCCCATGCCCTTCTCTCCCCT 0.428 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) --- 82 --- --- 57 --- LOC100132247 100132247 broad.mit.edu 37 16 22545540 22545558 + Frame_Shift_Del DEL CGAGCGTCTGCGGGGGCCG - - TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG uc010bxg.3 + 8 1418_1436 c.1236_1254delCGAGCGTCTGCGGGGGCCG c.(1234-1254)gccgagcgtctgcgggggccgfs p.A412fs LOC100132247_uc010vbv.2_Frame_Shift_Del_p.A412fs|LOC100132247_uc021tew.1_Frame_Shift_Del_p.A412fs|LOC100132247_uc010bxi.3_Frame_Shift_Del_p.A393fs|LOC100132247_uc010bxk.3_Frame_Shift_Del_p.A229fs NM_001135865 NP_001129337 Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA. AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT 0.562 --- 9 --- --- 5 --- CDC27 996 broad.mit.edu 37 17 45219612 45219612 + Frame_Shift_Del DEL A - - TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr17:45219612delA uc002ile.4 - 10 1506 c.1379delT c.(1378-1380)ctafs p.L460fs CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron NM_001114091 NP_001107563 P30260 CDC27_HUMAN Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA. 454 Missing (in Ref. 1; AAA60471). anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TGCTTTTTGTAGATTAAAGGC 0.308 --- 65 --- --- 9 --- SLC8A2 6543 broad.mit.edu 37 19 47935681 47935683 + In_Frame_Del DEL TCC - - TCGA-EB-A3XB-01A-11D-A23B-08 TCGA-EB-A3XB-10B-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx c1d1d007-672a-40da-9430-95814cf2b48b 9f4ffc2f-d006-4d86-b3b1-b25020481893 g.chr19:47935681_47935683delTCC uc010ele.3 - 7 2146_2148 c.2130_2132delGGA c.(2128-2133)gaggac>gac p.E710del SLC8A2_uc002pgx.3_In_Frame_Del_p.E710del|SLC8A2_uc010xyq.2_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.2_In_Frame_Del_p.E173del Q9UPR5 NAC2_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA. 710 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCGGGACCCGTCCTCCTCCTCCT 0.616 --- 112 --- --- 14 ---