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 OR1F1 4992 broad.mit.edu 37 16 3254454 3254454 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:3254454G>A uc010uwu.2 + 0 208 c.208G>A c.(208-210)Gac>Aac p.D70N NM_012360 NP_036492 O43749 OR1F1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA. 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 GTCTTTTGTGGACATCTGCTT 0.527000 59 45 0 0 0.014410 0 0 CACNA1A 773 broad.mit.edu 37 19 13428134 13428134 + Splice_Site SNP A G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:13428134A>G uc002mwy.3 - 11 1582 c.1346_splice c.e11-1 p.G449_splice CACNA1A_uc010dzc.2_Splice_Site|CACNA1A_uc010xnd.2_Splice_Site_p.G449_splice|CACNA1A_uc021ups.1_Splice_Site_p.G449_splice|CACNA1A_uc010xne.2_Splice_Site_p.G449_splice|CACNA1A_uc010dze.2_Splice_Site_p.G449_splice|CACNA1A_uc021upt.1_Splice_Site_p.G450_splice NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 450 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CGAAGGGAGAACCTGCCAGGG 0.502000 10 3 0 0 0.004672 0 0 SEMA6C 10500 broad.mit.edu 37 1 151108200 151108200 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:151108200G>A uc001ewv.3 - 13 1636 c.1300C>T c.(1300-1302)Ccc>Tcc p.P434S SEMA6C_uc001ewu.3_Missense_Mutation_p.P434S|SEMA6C_uc001eww.3_Missense_Mutation_p.P394S NM_001178061 NP_001171532 Q9H3T2 SEM6C_HUMAN Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA. 434 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTACTGTGGGGACCAGCCATG 0.582000 36 16 0 0 0.003163 0 0 FLG 2312 broad.mit.edu 37 1 152282067 152282067 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:152282067G>A uc001ezu.1 - 2 5331 c.5295C>T c.(5293-5295)ttC>ttT p.F1765F NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1765 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.F1765F(2) autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGGTAGAGGAAAGACCCTG 0.612000 Ichthyosis 95 67 0 0 0.014410 0 0 GLI3 2737 broad.mit.edu 37 7 42005316 42005316 + Missense_Mutation SNP C A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:42005316C>A uc011kbh.2 - 14 3446 c.3355G>T c.(3355-3357)Gac>Tac p.D1119Y GLI3_uc011kbg.2_Missense_Mutation_p.D1060Y NM_000168 NP_000159 P10071 GLI3_HUMAN Homo sapiens GLI family zinc finger 3 (GLI3), mRNA. 1119 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 ACTTTGCTGTCGTCCGGGAGG 0.642000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 55 16 8.60227e-14 1.39833e-13 0.004007 1 0 RHOBTB2 23221 broad.mit.edu 37 8 22862018 22862018 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:22862018C>T uc003xcp.2 + 3 420 c.137C>T c.(136-138)gCc>gTc p.A46V RHOBTB2_uc011kzp.1_Missense_Mutation_p.A31V|RHOBTB2_uc003xcq.2_Missense_Mutation_p.A24V NM_001160036 NP_055993 Q9BYZ6 RHBT2_HUMAN Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA. 24 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) GGGGACAACGCCGTGGGTAAG 0.582000 OREG0018628 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 6 0 0 0.006214 0 0 KCNK5 8645 broad.mit.edu 37 6 39159183 39159183 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:39159183C>T uc003oon.3 - 4 1347 c.983G>A c.(982-984)gGg>gAg p.G328E NM_003740 NP_003731 O95279 KCNK5_HUMAN Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA. 328 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GCCTTGAGGCCCCAGCCCTGG 0.632000 33 11 0 0 0.008291 0 0 ZNF568 374900 broad.mit.edu 37 19 37441305 37441305 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:37441305C>T uc002ofc.3 + 6 1768 c.1250C>T c.(1249-1251)cCc>cTc p.P417L ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.P416L|ZNF568_uc002ofd.3_Missense_Mutation_p.P353L|ZNF568_uc010efe.3_Missense_Mutation_p.P353L|ZNF568_uc010eff.2_Intron NM_198539 NP_001191766 Q3ZCX4 ZN568_HUMAN Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA. 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGTGAGAAACCCTATGTATGT 0.388000 27 22 0 0 0.003330 0 0 KRT3 3850 broad.mit.edu 37 12 53189302 53189302 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:53189302G>A uc001say.3 - 0 591 c.525C>T c.(523-525)atC>atT p.I175I NM_057088 NP_476429 P12035 K2C3_HUMAN Homo sapiens keratin 3 (KRT3), mRNA. 175 Head. I -> T (in Ref. 1; CAA28991). epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 GACTCTGGTTGATAGTCACTT 0.582000 5 13 0 0 0.001855 0 0 MRC2 9902 broad.mit.edu 37 17 60767588 60767588 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:60767588C>T uc002jad.3 + 25 4216 c.3814C>T c.(3814-3816)Ccc>Tcc p.P1272S MRC2_uc002jae.3_Missense_Mutation_p.P343S|MRC2_uc002jaf.3_Missense_Mutation_p.P138S NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 1272 endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CGCGTGGATTCCCTTCCGGGA 0.627000 17 11 0 0 0.008291 0 0 CHEK1 1111 broad.mit.edu 37 11 125503111 125503111 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:125503111C>T uc009zbo.3 + 5 1375 c.478C>T c.(478-480)Cgt>Tgt p.R160C CHEK1_uc010sbi.2_Missense_Mutation_p.R160C|CHEK1_uc010sbh.2_Missense_Mutation_p.R176C|CHEK1_uc001qcf.4_Missense_Mutation_p.R160C|CHEK1_uc009zbp.3_Missense_Mutation_p.R160C|CHEK1_uc001qcg.4_Missense_Mutation_p.R160C NM_001114122 NP_001107594 O14757 CHK1_HUMAN Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA. 160 Protein kinase. DNA repair|DNA replication|cellular response to mechanical stimulus|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity p.R160H(1) central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) GTATAATAATCGTGAGCGTTT 0.358000 Other conserved DNA damage response genes 54 18 0 0 0.010504 0 0 SCN3A 6328 broad.mit.edu 37 2 165984373 165984373 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:165984373C>T uc002ucx.3 - 17 3653 c.3161G>A c.(3160-3162)gGa>gAa p.G1054E SCN3A_uc002ucy.3_Missense_Mutation_p.G1005E|SCN3A_uc002ucz.3_Missense_Mutation_p.G1005E|SCN3A_uc002uda.1_Missense_Mutation_p.G874E|SCN3A_uc002udb.1_Missense_Mutation_p.G874E NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA. 1054 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TATTTCAATTCCAGTATTATT 0.373000 46 38 0 0 0.004289 0 0 WDR65 149465 broad.mit.edu 37 1 43649360 43649360 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:43649360C>T uc021omk.1 + 3 719 c.573C>T c.(571-573)agC>agT p.S191S EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Silent_p.S180S|WDR65_uc001ciq.2_Silent_p.S191S|WDR65_uc001cip.2_Silent_p.S191S NM_001195831 NP_001182760 Q96MR6 WDR65_HUMAN Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA. 191 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGCAAACCAGCTTTCAGAGGG 0.488000 62 21 0 0 0.010504 0 0 CXorf61 203413 broad.mit.edu 37 X 115593954 115593954 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:115593954G>A uc004eqj.1 - 0 184 c.64C>T c.(64-66)Cgc>Tgc p.R22C NM_001017978 NP_001017978 Q5H943 KKLC1_HUMAN Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA. 22 integral to membrane|plasma membrane breast(1)|large_intestine(3)|lung(8) 12 TGAAAGCGGCGATATTTCCAG 0.428000 30 34 0 0 0.006999 0 0 STK10 6793 broad.mit.edu 37 5 171481681 171481681 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:171481681C>T uc003mbo.1 - 16 2844 c.2544G>A c.(2542-2544)gaG>gaA p.E848E NM_005990 NP_005981 O94804 STK10_HUMAN Homo sapiens serine/threonine kinase 10 (STK10), mRNA. 848 Gln-rich. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCTGCCTCTTCTCCTCCTGCT 0.642000 62 15 0 0 0.006122 0 0 HIST2H2BE 8349 broad.mit.edu 37 1 149858185 149858185 + Silent SNP A G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:149858185A>G uc001etc.3 - 0 48 c.6T>C c.(4-6)ccT>ccC p.P2P HIST2H2AC_uc001etd.3_5'Flank NM_003528 NP_003519 Q16778 H2B2E_HUMAN Homo sapiens histone cluster 2, H2be (HIST2H2BE), mRNA. 2 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 14 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) TTGCCGGTTCAGGCATGGTAA 0.512000 22 11 0 0 0.008291 0 0 ALDOB 229 broad.mit.edu 37 9 104187776 104187776 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:104187776G>A uc004bbk.2 - 6 840 c.758C>T c.(757-759)aCc>aTc p.T253I NM_000035 NP_000026 P05062 ALDOB_HUMAN Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA. 253 NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) AGCTGTTACGGTGGCCATAGC 0.507000 61 30 0 0 0.012213 0 0 IL7R 3575 broad.mit.edu 37 5 35871189 35871189 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:35871189C>T uc003jjs.3 + 3 500 c.411C>T c.(409-411)gtC>gtT p.V137V IL7R_uc011coo.2_Silent_p.V137V|IL7R_uc011cop.2_Non-coding_Transcript NM_002185 NP_002176 P16871 IL7RA_HUMAN Homo sapiens interleukin 7 receptor (IL7R), mRNA. 137 Fibronectin type-III. immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) ACCTGAGTGTCGTCTATCGGG 0.368000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 93 15 0 0 0.004990 0 0 LILRB3 11025 broad.mit.edu 37 19 54803596 54803596 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:54803596C>T uc002qfd.3 - 2 320 c.228G>A c.(226-228)gaG>gaA p.E76E LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Silent_p.E76E NM_006865 NP_006856 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA. 76 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TCTTCACAAGCTCCTGTGGGA 0.537000 13 20 0 0 0.012319 0 0 STXBP5L 9515 broad.mit.edu 37 3 120976086 120976086 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:120976086C>T uc003eec.4 + 16 1878 c.1738C>T c.(1738-1740)Ctc>Ttc p.L580F STXBP5L_uc011bji.2_Missense_Mutation_p.L580F NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 580 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane p.L580P(1) 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) GTTTCCAGATCTCTCAGCCCA 0.403000 58 40 0 0 0.009718 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52714670 52714670 + Missense_Mutation SNP C T T rs112759633 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:52714670C>T uc002pyp.3 + 3 723 c.428C>T c.(427-429)tCc>tTc p.S143F PPP2R1A_uc010ydk.2_Missense_Mutation_p.S88F|PPP2R1A_uc010epm.1_Missense_Mutation_p.S183F|PPP2R1A_uc002pyq.3_5'UTR NM_014225 NP_055040 P30153 2AAA_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA. 143 PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding. G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TGGTTCACCTCCCGCACCTCG 0.642000 Mis clear cell ovarian carcinoma 31 16 0 0 0.004007 0 0 ATR 545 broad.mit.edu 37 3 142215245 142215245 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:142215245G>A uc003eux.4 - 33 5978 c.5856C>T c.(5854-5856)ctC>ctT p.L1952L NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 1952 FAT. DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 ACAGTTCAGCGAGTCGTGATT 0.443000 Other conserved DNA damage response genes 18 23 0 0 0.009535 0 0 WAC 51322 broad.mit.edu 37 10 28897258 28897258 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:28897258C>T uc001iuf.3 + 7 1151 c.1063C>T c.(1063-1065)Ccc>Tcc p.P355S WAC_uc001iud.3_Missense_Mutation_p.P310S|WAC_uc001iue.3_Missense_Mutation_p.P45S|WAC_uc009xlb.3_Missense_Mutation_p.P310S|WAC_uc001iug.3_Missense_Mutation_p.P252S|WAC_uc001iuh.3_Missense_Mutation_p.P310S NM_016628 NP_057712 Q9BTA9 WAC_HUMAN Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA. 355 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck RNA polymerase II core binding|chromatin binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 GCCAATACCTCCCTTACTTCA 0.468000 8 19 0 0 0.006122 0 0 MYO16 23026 broad.mit.edu 37 13 109817396 109817396 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr13:109817396C>T uc010agk.2 + 32 5934 c.5312C>T c.(5311-5313)tCc>tTc p.S1771F MYO16_uc001vqt.1_Missense_Mutation_p.S1749F NM_001198950 NP_001185879 Q9Y6X6 MYO16_HUMAN Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA. 1749 cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane ATP binding|actin filament binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AATGGAAATTCCATCTCAAAT 0.323000 17 25 0 0 0.005443 0 0 OR4K1 79544 broad.mit.edu 37 14 20404103 20404103 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:20404103C>T uc001vwj.2 + 0 337 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) AAGACTATCTCCTTTGAGGGT 0.403000 118 20 0 0 0.012319 0 0 UBE2U 148581 broad.mit.edu 37 1 64698315 64698315 + Missense_Mutation SNP A G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:64698315A>G uc001dbn.1 + 6 822 c.578A>G c.(577-579)gAa>gGa p.E193G NM_152489 NP_689702 Q5VVX9 UBE2U_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA. 193 ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(3)|lung(2)|skin(1) 6 AAAGCCACAGAATACTACAGA 0.328000 66 18 0 0 0.007413 0 0 GPR97 222487 broad.mit.edu 37 16 57707263 57707263 + Missense_Mutation SNP A C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:57707263A>C uc002emh.3 + 1 192 c.89A>C c.(88-90)aAc>aCc p.N30T GPR97_uc010cdc.3_Missense_Mutation_p.N30T|GPR97_uc010vhv.2_5'UTR|GPR97_uc010cdd.3_Non-coding_Transcript NM_170776 NP_740746 Q86Y34 GPR97_HUMAN Homo sapiens G protein-coupled receptor 97 (GPR97), mRNA. 30 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGGCCAAGAAACACCTGCCTG 0.532000 32 7 0 0 0.001984 0 0 AGAP11 119385 broad.mit.edu 37 10 88769290 88769290 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:88769290G>A uc001kee.2 + 11 2485 c.1281G>A c.(1279-1281)aaG>aaA p.K427K 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. 427 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding GGGAAGAGAAGGAACGGTGGA 0.562000 19 59 0 0 0.014410 0 0 LRRC66 339977 broad.mit.edu 37 4 52861333 52861333 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:52861333C>T uc003gzi.3 - 3 1862 c.1855G>A c.(1855-1857)Gaa>Aaa p.E619K NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA. 619 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 TTAGAAAATTCCATCTGCGAG 0.502000 12 33 0 0 0.003271 0 0 TNFAIP8L1 126282 broad.mit.edu 37 19 4652031 4652031 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:4652031G>A uc002max.3 + 1 268 c.150G>A c.(148-150)acG>acA p.T50T TNFAIP8L1_uc021une.1_Silent_p.T50T|TNFAIP8L1_uc021unf.1_Silent_p.T50T NM_152362 NP_689575 Q8WVP5 TP8L1_HUMAN Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 1 (TNFAIP8L1), transcript variant 2, mRNA. 50 endometrium(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GGGAGTTCACGCGCAGCCGCA 0.637000 15 4 0 0 0.000602 0 0 CENPJ 55835 broad.mit.edu 37 13 25457366 25457366 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr13:25457366C>T uc001upt.4 - 16 4219 c.3966G>A c.(3964-3966)cgG>cgA p.R1322R CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN Homo sapiens centromere protein J (CENPJ), mRNA. 1322 G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TAACTCTTATCCGACCGGATC 0.428000 57 53 0 0 0.014410 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921607 12921607 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:12921607G>A uc001aum.1 + 3 1485 c.1398G>A c.(1396-1398)gaG>gaA p.E466E NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 466 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACCGTCTGAGGAACTGGAGC 0.537000 42 8 0 0 0.007413 0 0 NLRP11 204801 broad.mit.edu 37 19 56297047 56297047 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:56297047G>A uc010ygf.2 - 11 3757 c.3046C>T c.(3046-3048)Ccc>Tcc p.P1016S NLRP11_uc002qlz.3_Missense_Mutation_p.P863S|NLRP11_uc002qmb.3_Missense_Mutation_p.P917S|NLRP11_uc002qmc.3_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 1016 ATP binding 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) GACATTCTGGGAAATTTGAAA 0.373000 56 23 0 0 0.003330 0 0 HDC 3067 broad.mit.edu 37 15 50535348 50535348 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:50535348G>A uc001zxz.3 - 10 1576 c.1234C>T c.(1234-1236)Cgt>Tgt p.R412C HDC_uc001zxy.3_Missense_Mutation_p.R155C|HDC_uc010uff.2_Missense_Mutation_p.R379C NM_002112 NP_002103 P19113 DCHS_HUMAN Homo sapiens histidine decarboxylase (HDC), mRNA. 412 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) ACCTTTAGACGAAAAACCACC 0.478000 12 14 0 0 0.001855 0 0 LARP1 23367 broad.mit.edu 37 5 154193632 154193632 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:154193632G>A uc003lvo.3 + 18 3060 c.3036G>A c.(3034-3036)tcG>tcA p.S1012S LARP1_uc021ygh.1_Silent_p.S884S NM_015315 NP_056130 Q6PKG0 LARP1_HUMAN Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA. 1089 RNA binding|protein binding p.S1089S(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCCAGCACTCGAACACACAGA 0.607000 16 11 0 0 0.008291 0 0 TCRBV5S2 0 broad.mit.edu 37 7 142131574 142131574 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:142131574C>T uc010lnz.1 - 1 225 c.181G>A c.(181-183)Ggg>Agg p.G61R TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRBV5S2_uc022ang.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; AACTGGGGCCCCTGACCCAGG 0.507000 46 14 0 0 0.001855 0 0 FAM221A 340277 broad.mit.edu 37 7 23724254 23724254 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:23724254C>T uc003swo.4 + 1 291 c.202C>T c.(202-204)Ctt>Ttt p.L68F FAM221A_uc003swq.4_Missense_Mutation_p.L68F|FAM221A_uc003swr.4_Intron|FAM221A_uc003swp.4_Non-coding_Transcript|FAM221A_uc010kup.3_Non-coding_Transcript NM_199136 NP_954587 A4D161 CG046_HUMAN Homo sapiens chromosome 7 open reading frame 46 (C7orf46), transcript variant 1, mRNA. 68 GGATTGTAAACTTGTGGGCCC 0.348000 19 25 0 0 0.006320 0 0 ATP2A3 489 broad.mit.edu 37 17 3856722 3856723 + Splice_Site DNP CC TT TT TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:3856722_3856723CC>TT uc002fwy.2 - 3 310 c.137_splice c.e3-1 p.G46_splice ATP2A3_uc002fwz.2_Splice_Site_p.G46_splice|ATP2A3_uc002fxa.2_Splice_Site_p.G46_splice|ATP2A3_uc002fxb.2_Splice_Site_p.G46_splice|ATP2A3_uc002fxc.2_Splice_Site_p.G46_splice|ATP2A3_uc002fxd.2_Splice_Site_p.G46_splice|ATP2A3_uc002fwx.2_Splice_Site_p.G46_splice NM_174953 NP_777613 Q93084 AT2A3_HUMAN Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA. 46 ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 36 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) ACAGGGACTTCCCTGGGAACGG 0.653000 17 5 0 0 0.004672 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884134 228884134 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:228884134G>A uc002vpq.2 - 6 1483 c.1436C>T c.(1435-1437)aCc>aTc p.T479I SPHKAP_uc002vpp.2_Missense_Mutation_p.T479I|SPHKAP_uc010zlx.1_Missense_Mutation_p.T479I NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 479 cytoplasm protein binding 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) GATGCTTGAGGTTTCAACAGA 0.532000 35 13 0 0 0.013537 0 0 NPVF 64111 broad.mit.edu 37 7 25266264 25266264 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:25266264G>A uc003sxo.3 - 1 567 c.520C>T c.(520-522)Ccc>Tcc p.P174S NM_022150 NP_071433 Q9HCQ7 RFRP_HUMAN Homo sapiens neuropeptide VF precursor (NPVF), mRNA. 174 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity p.P174P(1) cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 TTTTGATCGGGATTCTGGATT 0.413000 95 19 0 0 0.012319 0 0 AY455283 0 broad.mit.edu 37 12 8048183 8048183 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:8048183G>A uc001qtp.1 + 1 171 c.91G>A c.(91-93)Gaa>Aaa p.E31K SubName: Full=Uncharacterized protein; CACAAAAAAGGAAGACAAGGT 0.473000 35 12 0 0 0.010729 0 0 IL7 3574 broad.mit.edu 37 8 79710372 79710372 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:79710372C>T uc003ybg.3 - 1 683 c.82G>A c.(82-84)Gat>Aat p.D28N IL7_uc022awh.1_Missense_Mutation_p.D28N|IL7_uc022awi.1_Missense_Mutation_p.D28N|IL7_uc022awj.1_Missense_Mutation_p.D28N|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. 28 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 CCTTCAATATCACAATCAGAT 0.343000 44 16 0 0 0.003163 0 0 PAK7 57144 broad.mit.edu 37 20 9547011 9547011 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:9547011C>T uc002wnl.2 - 5 1556 c.1011G>A c.(1009-1011)caG>caA p.Q337Q PAK7_uc002wnk.2_Silent_p.Q337Q|PAK7_uc002wnj.2_Silent_p.Q337Q|PAK7_uc010gby.1_Silent_p.Q337Q NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 337 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) TGAGGACCATCTGTGCTCGAT 0.532000 55 39 0 0 0.008740 0 0 GRAP 10750 broad.mit.edu 37 17 18925352 18925352 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:18925352C>T uc002guy.3 - 4 671 c.574G>A c.(574-576)Gac>Aac p.D192N NM_006613 NP_006604 Q13588 GRAP_HUMAN Homo sapiens GRB2-related adaptor protein (GRAP), mRNA. 192 SH3 2. Ras protein signal transduction|cell-cell signaling cytoplasm SH3/SH2 adaptor activity large_intestine(1)|urinary_tract(1) 2 all_cancers(12;0.0183) CAGTGGGGGTCTGGGCGCTCC 0.687000 9 3 0 0 0.004672 0 0 MORC1 27136 broad.mit.edu 37 3 108723921 108723921 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:108723921G>A uc003dxl.3 - 18 2096 c.2009C>T c.(2008-2010)tCc>tTc p.S670F MORC1_uc011bhn.2_Missense_Mutation_p.S649F NM_014429 NP_055244 Q86VD1 MORC1_HUMAN Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA. 670 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding p.S670Y(2) 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 TAATACCTGGGATCTCTCAGC 0.338000 68 28 0 0 0.008361 0 0 LRP1B 53353 broad.mit.edu 37 2 141072529 141072529 + Silent SNP T G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:141072529T>G uc002tvj.1 - 82 13752 c.12780A>C c.(12778-12780)ggA>ggC p.G4260G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 4260 EGF-like 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CGCAAGTTCCTCCATTCTGGC 0.363000 TSP Lung(27;0.18) 36 13 0 0 0.002450 0 0 LARP6 55323 broad.mit.edu 37 15 71125175 71125175 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:71125175C>T uc002ass.3 - 2 763 c.692G>A c.(691-693)cGg>cAg p.R231Q NM_018357 NP_060827 Q9BRS8 LARP6_HUMAN Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA. 231 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex RNA binding|nucleotide binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 TTTGAGGATCCGCACTGATGA 0.582000 15 8 0 0 0.003080 0 0 TMC5 79838 broad.mit.edu 37 16 19485494 19485494 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:19485494C>T uc002dgc.4 + 11 2735 c.1986C>T c.(1984-1986)ttC>ttT p.F662F TMC5_uc010vaq.2_Silent_p.F610F|TMC5_uc002dgb.4_Silent_p.F662F|TMC5_uc010var.2_Silent_p.F662F|TMC5_uc002dgd.1_Silent_p.F416F|TMC5_uc002dge.4_Silent_p.F416F|TMC5_uc002dgf.4_Silent_p.F345F|TMC5_uc002dgg.4_Silent_p.F303F NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 662 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TACTGCCTTTCGTTGTGTCCT 0.547000 71 15 0 0 0.003163 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986533 51986533 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:51986533G>A uc002pwv.1 + 4 1119 c.1119G>A c.(1117-1119)agG>agA p.R373R NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA. 373 Ig-like C2-type. integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGGACGTCAGGATCCAGGCCC 0.597000 20 9 0 0 0.004482 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51645918 51645918 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:51645918C>T uc002pvv.1 + 0 361 c.292C>T c.(292-294)Ctt>Ttt p.L98F SIGLEC7_uc002pvw.1_Missense_Mutation_p.L98F|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.L98F NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 98 Ig-like V-type. cell adhesion integral to plasma membrane receptor activity|sugar binding autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ATTCCACCTCCTTGGGGACCC 0.517000 54 20 0 0 0.012319 0 0 MUC5B 727897 broad.mit.edu 37 11 1265002 1265003 + Missense_Mutation DNP CC TT TT TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:1265002_1265003CC>TT uc001lta.3 + 30 6951_6952 c.6892_6893CC>TT c.(6892-6894)ccc>TTc p.P2298F NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 2298 7 X Cys-rich subdomain repeats.|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) GACCCTGCTGCCCAGCAGCCCC 0.683000 42 12 0 0 0.004672 0 0 POP1 10940 broad.mit.edu 37 8 99162864 99162864 + Missense_Mutation SNP A T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:99162864A>T uc003yij.4 + 13 2154 c.2054A>T c.(2053-2055)aAa>aTa p.K685I POP1_uc011lgv.2_Missense_Mutation_p.K685I|POP1_uc003yik.3_Missense_Mutation_p.K685I NM_001145860 NP_055844 Q99575 POP1_HUMAN Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA. 685 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GAAAAGTACAAAAGGTAAGAA 0.413000 24 8 0 0 0.004482 0 0 DNAJB7 150353 broad.mit.edu 37 22 41257784 41257784 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr22:41257784C>T uc003azj.3 - 0 347 c.215G>A c.(214-216)gGa>gAa p.G72E XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank NM_145174 NP_660157 Q7Z6W7 DNJB7_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA. 72 protein folding heat shock protein binding|unfolded protein binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 10 TCCGTTTAATCCTTCTGTGCC 0.358000 38 154 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179402191 179402191 + Missense_Mutation SNP G T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:179402191G>T uc021vsy.1 - 303 92264 c.92039C>A c.(92038-92040)aCt>aAt p.T30680N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T24375N|TTN_uc021vta.1_Missense_Mutation_p.T24308N|TTN_uc021vtb.1_Missense_Mutation_p.T24183N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 31607 Ig-like 138. 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) ATAGTGCTCAGTGTTTTCAAT 0.413000 24 8 0.000274275 0.000439538 0.004482 1 0 DNAJC15 29103 broad.mit.edu 37 13 43652761 43652761 + Missense_Mutation SNP A G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr13:43652761A>G uc001uyy.3 + 3 649 c.248A>G c.(247-249)tAc>tGc p.Y83C NM_013238 NP_037370 Q9Y5T4 DJC15_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 15 (DNAJC15), mRNA. 83 integral to membrane heat shock protein binding endometrium(2)|kidney(1)|urinary_tract(1) 4 Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737) TTTTCATCCTACTATAAAGGA 0.408000 20 5 0 0 0.000602 0 0 SIM1 6492 broad.mit.edu 37 6 100841376 100841376 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:100841376G>A uc003pqj.4 - 9 2024 c.1557C>T c.(1555-1557)gtC>gtT p.V519V SIM1_uc021zdg.1_Silent_p.V519V|SIM1_uc010kcu.3_Silent_p.V519V NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 519 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.V519I(1) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGATCCTGTGGACTGAAGCGA 0.552000 48 11 0 0 0.001855 0 0 HADHA 3030 broad.mit.edu 37 2 26462009 26462009 + Missense_Mutation SNP A C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:26462009A>C uc002rgy.3 - 1 200 c.70T>G c.(70-72)Tat>Gat p.Y24D HADHA_uc010yks.2_5'UTR|HADHA_uc010ykt.1_5'UTR NM_000182 NP_000173 P40939 ECHA_HUMAN Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA. 24 fatty acid beta-oxidation fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1) 30 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) NADH(DB00157) CGGCATATATAACCTGTAAGA 0.274000 114 55 0 0 0.014410 0 0 LRRTM2 26045 broad.mit.edu 37 5 138209934 138209934 + Nonsense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:138209934G>A uc011cyz.1 - 1 773 c.316C>T c.(316-318)Caa>Taa p.Q106* CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Intron|CTNNA1_uc003ldl.3_5'Flank NM_015564 NP_056379 O43300 LRRT2_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA. 106 cell junction|integral to membrane|postsynaptic membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TATAGTCCTTGAAAAGCATCT 0.338000 52 12 0 0 0.010729 0 0 OTOL1 131149 broad.mit.edu 37 3 161214851 161214851 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:161214851C>T uc011bpb.2 + 0 256 c.256C>T c.(256-258)Ccc>Tcc p.P86S NM_001080440 NP_001073909 A6NHN0 OTOL1_HUMAN Homo sapiens otolin 1 (OTOL1), mRNA. 86 collagen central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1) 27 CACTCTCTCTCCCTTTGAAAA 0.463000 40 42 0 0 0.014410 0 0 SPTA1 6708 broad.mit.edu 37 1 158604457 158604457 + Missense_Mutation SNP T G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:158604457T>G uc001fst.1 - 38 5640 c.5441A>C c.(5440-5442)aAg>aCg p.K1814T NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1814 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTCTTCCAACTTAAGTCCTCT 0.463000 43 11 0 0 0.008291 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13928122 13928122 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:13928122C>T uc002mxh.1 + 6 1462 c.1273C>T c.(1273-1275)Ctg>Ttg p.L425L ZSWIM4_uc010xng.1_Silent_p.L348L NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA. 425 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CAGGGCGCTCCTGGAGGCCTG 0.632000 28 20 0 0 0.010504 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43659461 43659461 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:43659461C>T uc001jan.3 + 4 1463 c.1128C>T c.(1126-1128)ttC>ttT p.F376F NM_018590 NP_061060 Q8N6G5 CGAT2_HUMAN Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA. 376 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 CAGCCGAATTCCTTAACAGCT 0.438000 12 34 0 0 0.004289 0 0 COL4A3 1285 broad.mit.edu 37 2 228172560 228172560 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:228172560G>A uc002vom.2 + 47 4549 c.4387G>A c.(4387-4389)Ggg>Agg p.G1463R BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron|COL4A3_uc010fxf.2_5'UTR|COL4A3_uc021vxt.1_5'UTR NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 1463 Collagen IV NC1. 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) ATGTCCAGAGGGGACAGTGCC 0.502000 41 19 0 0 0.010504 0 0 SPATA17 128153 broad.mit.edu 37 1 217947879 217947879 + Splice_Site SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:217947879G>A uc001hlh.1 + 7 749 c.723_splice c.e7+1 p.Q241_splice SPATA17_uc009xdr.1_Splice_Site NM_138796 NP_620151 Q96L03 SPT17_HUMAN Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA. 241 cytoplasm calmodulin binding endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AGCAATGTCAGGTACTAGTTT 0.333000 10 12 0 0 0.010729 0 0 C17orf104 284071 broad.mit.edu 37 17 42745072 42745072 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:42745072G>A uc002iha.3 + 4 2013 c.1793G>A c.(1792-1794)gGg>gAg p.G598E C17orf104_uc002igy.1_Missense_Mutation_p.G432E|C17orf104_uc002igz.3_Missense_Mutation_p.G432E|C17orf104_uc010wja.1_Non-coding_Transcript NM_001145080 NP_001138552 A2RUB1 CQ104_HUMAN Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA. 598 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 CAGAAGTATGGGATAATTGAA 0.358000 6 10 0 0 0.006214 0 0 PKHD1 5314 broad.mit.edu 37 6 51656141 51656141 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:51656141G>A uc003pah.1 - 52 8609 c.8333C>T c.(8332-8334)cCa>cTa p.P2778L PKHD1_uc010jzn.1_Missense_Mutation_p.P761L|PKHD1_uc003pai.3_Missense_Mutation_p.P2778L NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 2778 G8 2. 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) TTTGAAGAATGGAAGATCTGT 0.453000 21 4 0 0 0.009096 0 0 PDE11A 50940 broad.mit.edu 37 2 178936519 178936519 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:178936519G>A uc002ulq.3 - 0 964 c.646C>T c.(646-648)Ctt>Ttt p.L216F PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_001070664 Q9HCR9 PDE11_HUMAN Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA. 216 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) GTGAGGTCAAGGTCATTGGAG 0.502000 Primary Pigmented Nodular Adrenocortical Disease, Familial 58 29 0 0 0.013726 0 0 RPS18 6222 broad.mit.edu 37 6 33243639 33243639 + Silent SNP G A A rs142232404 by1000genomes TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:33243639G>A uc003odp.1 + 2 213 c.168G>A c.(166-168)gcG>gcA p.A56A RPS18_uc010jum.1_Non-coding_Transcript|B3GALT4_uc003odr.3_5'Flank NM_022551 NP_072045 P62269 RS18_HUMAN Homo sapiens ribosomal protein S18 (RPS18), mRNA. 56 endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 9 CCAAGAGGGCGGGAGAACTCA 0.552000 66 12 0 0 0.010729 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68213613 68213613 + Missense_Mutation SNP G A A rs144506580 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:68213613G>A uc003xxo.2 - 2 548 c.158C>T c.(157-159)cCt>cTt p.P53L NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA. 53 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TCCATGAGGAGGACTAAATGA 0.348000 49 17 0 0 0.008871 0 0 CRMP1 1400 broad.mit.edu 37 4 5841406 5841406 + Splice_Site SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:5841406C>T uc003gis.3 - 9 1243 c.1154_splice c.e9-1 p.G385_splice CRMP1_uc003giq.3_Splice_Site_p.G271_splice|CRMP1_uc003gir.3_Splice_Site_p.G266_splice NM_001014809 NP_001014809 Q14194 DPYL1_HUMAN Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA. 271 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) ACTAGGGGCCCTTAGGAGGGG 0.547000 1 6 0 0 0.001168 0 0 TCF20 6942 broad.mit.edu 37 22 42608428 42608428 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr22:42608428G>A uc003bcj.1 - 0 3018 c.2884C>T c.(2884-2886)Cgc>Tgc p.R962C TCF20_uc003bck.1_Missense_Mutation_p.R962C NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA. 962 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCATTGCCGCGGTAAGACTCA 0.522000 26 98 0 0 0.014410 0 0 DNHD1 144132 broad.mit.edu 37 11 6520067 6520067 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:6520067G>A uc001mdw.4 + 2 1186 c.622G>A c.(622-624)Gag>Aag p.E208K DNHD1_uc001mdp.3_Missense_Mutation_p.E208K NM_144666 NP_653267 Q96M86 DNHD1_HUMAN Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA. 208 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGCCCTAGAAGAGGCTGTGTG 0.577000 72 16 0 0 0.006122 0 0 DNM3 26052 broad.mit.edu 37 1 172011255 172011255 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:172011255C>T uc001gie.3 + 7 1275 c.1099C>T c.(1099-1101)Cat>Tat p.H367Y DNM3_uc001gid.4_Missense_Mutation_p.H367Y|DNM3_uc009wwb.2_Missense_Mutation_p.H367Y|DNM3_uc001gif.3_Missense_Mutation_p.H367Y NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA. 367 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TCGTATTTTTCATGAACGCTT 0.358000 39 23 0 0 0.012319 0 0 MUC2 4583 broad.mit.edu 37 11 1090912 1090912 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:1090912C>T uc001lsx.1 + 27 3834 c.3807C>T c.(3805-3807)acC>acT p.T1269T NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 1269 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) ccaccttcaccaccatcaccc 0.617000 5 5 0 0 0.000602 0 0 BAI3 577 broad.mit.edu 37 6 70064197 70064197 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:70064197C>T uc010kak.3 + 25 3808 c.3532C>T c.(3532-3534)Cct>Tct p.P1178S BAI3_uc003pev.4_Missense_Mutation_p.P1178S|BAI3_uc011dxx.2_Missense_Mutation_p.P384S NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1178 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) GAGTTCGTTTCCTAATGGGCA 0.383000 62 19 0 0 0.002780 0 0 LHX1 3975 broad.mit.edu 37 17 35300123 35300123 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:35300123C>T uc002hnh.2 + 4 1639 c.916C>T c.(916-918)Cag>Tag p.Q306* NM_005568 NP_005559 P48742 LHX1_HUMAN Homo sapiens LIM homeobox 1 (LHX1), mRNA. 306 S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(25;0.00607) CTCGCAGGCCCAGACACCAGT 0.716000 2 3 0 0 0.004672 0 0 FAM83B 222584 broad.mit.edu 37 6 54806173 54806173 + Missense_Mutation SNP A G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:54806173A>G uc003pck.3 + 4 2520 c.2404A>G c.(2404-2406)Agt>Ggt p.S802G NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 802 p.C801F(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TAGATTGTGTAGTAGCTCTGA 0.363000 42 5 0 0 0.003080 0 0 ATF7IP 55729 broad.mit.edu 37 12 14578322 14578322 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:14578322C>T uc001rbw.3 + 1 1631 c.1473C>T c.(1471-1473)gcC>gcT p.A491A ATF7IP_uc010shs.1_Silent_p.A491A|ATF7IP_uc001rbu.3_Silent_p.A491A|ATF7IP_uc001rbv.1_Silent_p.A491A|ATF7IP_uc001rbx.3_Silent_p.A491A|ATF7IP_uc010sht.1_Silent_p.A491A|ATF7IP_uc001rby.4_Silent_p.A491A|ATF7IP_uc001rbz.1_Silent_p.A491A|ATF7IP_uc001rca.3_Silent_p.A491A|ATF7IP_uc001rcb.3_Silent_p.A102A NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA. 491 Glu-rich. DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 CAAAAGAAGCCTTTCTGGTCC 0.383000 33 10 0 0 0.006214 0 0 HHATL 57467 broad.mit.edu 37 3 42739839 42739839 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:42739839C>T uc003clw.3 - 6 635 c.488G>A c.(487-489)gGg>gAg p.G163E HHATL_uc003clx.3_Missense_Mutation_p.G163E NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA. 163 negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3) 19 KIRC - Kidney renal clear cell carcinoma(284;0.215) TGTTACAAACCCGCTCTGGAG 0.577000 24 14 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9048458 9048458 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:9048458G>A uc002mkp.3 - 4 33377 c.33173C>T c.(33172-33174)cCa>cTa p.P11058L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11060 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 AATCAGAGTTGGAATACTTGT 0.488000 31 21 0 0 0.012319 0 0 MUC2 4583 broad.mit.edu 37 11 1085744 1085744 + Splice_Site SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:1085744G>A uc001lsx.1 + 21 2692 c.2665_splice c.e21-1 p.D889_splice NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 889 VWFD 3. inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) TGGCCCCCAGGACTACTGCGG 0.637000 13 10 0 0 0.006214 0 0 TRPS1 7227 broad.mit.edu 37 8 116616576 116616576 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:116616576G>A uc003yny.3 - 3 2198 c.1620C>T c.(1618-1620)ttC>ttT p.F540F TRPS1_uc011lhy.2_Silent_p.F531F|TRPS1_uc003ynz.3_Silent_p.F527F|TRPS1_uc010mcy.3_Silent_p.F527F NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA. 527 NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GGAAGTCACAGAACTGACAAT 0.458000 Langer-Giedion syndrome 67 50 0 0 0.014410 0 0 OAS3 4940 broad.mit.edu 37 12 113400697 113400697 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:113400697C>T uc001tug.3 + 8 2161 c.2074C>T c.(2074-2076)Cga>Tga p.R692* NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA. 692 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|RNA binding|nucleotidyltransferase activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 TGGCCAGCTTCGAAAACCCAG 0.567000 108 31 0 0 0.004289 0 0 ZNF470 388566 broad.mit.edu 37 19 57088460 57088460 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:57088460C>T uc002qnl.4 + 5 1339 c.663C>T c.(661-663)gaC>gaT p.D221D ZNF470_uc010etn.3_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN Homo sapiens zinc finger protein 470 (ZNF470), mRNA. 221 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D221G(1) endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) ACAAGCAAGACCGTGGAGAAA 0.308000 29 18 0 0 0.008871 0 0 RYR3 6263 broad.mit.edu 37 15 33842517 33842517 + Splice_Site SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:33842517G>A uc001zhi.3 + 10 1042 c.972_splice c.e10+1 p.K324_splice RYR3_uc010bar.3_Splice_Site_p.K324_splice NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 324 MIR 4. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGGCATCAAAGGTAAGGTGTG 0.468000 10 6 0 0 0.001168 0 0 FAM47C 442444 broad.mit.edu 37 X 37026709 37026709 + Missense_Mutation SNP T A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:37026709T>A uc004ddl.2 + 0 278 c.226T>A c.(226-228)Ttt>Att p.F76I NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 76 p.F76I(2) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCGTGACGAGTTTTTACTCCC 0.527000 15 16 0 0 0.004990 0 0 MMP11 4320 broad.mit.edu 37 22 24122788 24122788 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr22:24122788C>T uc002zxx.3 + 3 524 c.502C>T c.(502-504)Ctg>Ttg p.L168L MMP11_uc002zxy.3_Non-coding_Transcript NM_005940 NP_005931 P24347 MMP11_HUMAN Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA. 168 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) TGGGGACGACCTGCCGTTTGA 0.632000 5 28 0 0 0.009535 0 0 KRT24 192666 broad.mit.edu 37 17 38859788 38859788 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:38859788C>T uc002hvd.3 - 0 215 c.158G>A c.(157-159)aGt>aAt p.S53N NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN Homo sapiens keratin 24 (KRT24), mRNA. 53 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) AGACCCCCCACTCAGGCTGCA 0.637000 18 14 0 0 0.002450 0 0 KIAA0182 23199 broad.mit.edu 37 16 85688528 85688528 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:85688528C>T uc002fix.3 + 4 802 c.728C>T c.(727-729)cCg>cTg p.P243L KIAA0182_uc002fiw.3_Missense_Mutation_p.P139L|KIAA0182_uc002fiy.3_Missense_Mutation_p.P170L NM_014615 NP_055430 Q14687 GSE1_HUMAN Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA. 243 protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 35 GGCCTGGACCCGGCCACTGCT 0.682000 11 5 0 0 0.001168 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503257 140503257 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:140503257C>T uc003lip.1 + 0 1677 c.1677C>T c.(1675-1677)ttC>ttT p.F559F NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 559 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGCCCTTCGTGCTGTACC 0.701000 16 11 0 0 0.007413 0 0 CCDC153 283152 broad.mit.edu 37 11 119063891 119063891 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:119063891C>T uc010rze.2 - 4 533 c.319G>A c.(319-321)Gaa>Aaa p.E107K NM_001145018 NP_001138490 Q494R4 CC153_HUMAN Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA. 107 lung(3)|stomach(1) 4 TTGACTTCTTCCTCCAGCTGC 0.617000 24 23 0 0 0.003330 0 0 SH3GL3 6457 broad.mit.edu 37 15 84245343 84245343 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:84245343G>A uc002bjw.3 + 5 669 c.474G>A c.(472-474)ctG>ctA p.L158L SH3GL3_uc010uot.1_Silent_p.L158L|SH3GL3_uc002bjx.3_Silent_p.L89L|SH3GL3_uc002bju.3_Silent_p.L166L|SH3GL3_uc002bjv.3_Non-coding_Transcript NM_003027 NP_003018 Q99963 SH3G3_HUMAN Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA. 158 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 AGCATCACCTGAAAAAGCTGG 0.388000 21 16 0 0 0.006122 0 0 ZNF578 147660 broad.mit.edu 37 19 53007995 53007995 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:53007995G>A uc002pzp.4 + 4 395 c.151G>A c.(151-153)Gaa>Aaa p.E51K NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TTTGTACAGGGAAGTGATGTT 0.498000 45 40 0 0 0.006999 0 0 WBSCR17 64409 broad.mit.edu 37 7 70853302 70853302 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:70853302C>T uc003tvy.3 + 2 504 c.504C>T c.(502-504)atC>atT p.I168I WBSCR17_uc003tvz.3_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 168 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TGTCGGTGATCCTGCGGTCCG 0.557000 14 20 0 0 0.012319 0 0 GPR137B 7107 broad.mit.edu 37 1 236343179 236343179 + Splice_Site SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:236343179G>A uc001hxq.3 + 4 779 c.688_splice c.e4-1 p.G230_splice NM_003272 NP_003263 O60478 G137B_HUMAN Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA. 230 integral to plasma membrane|membrane fraction endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TCTTTTCCAGGGCTCCTCCGT 0.552000 58 15 0 0 0.006122 0 0 CDH24 64403 broad.mit.edu 37 14 23523812 23523812 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:23523812G>A uc001wil.3 - 4 947 c.687C>T c.(685-687)gcC>gcT p.A229A CDH24_uc010akf.3_Silent_p.A229A|CDH24_uc001win.3_Silent_p.A229A NM_022478 NP_071923 Q86UP0 CAD24_HUMAN Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA. 229 Cadherin 2. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CCATGTCCTTGGCCTGGATCA 0.602000 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 8 0 0 0.004482 0 0 PCLO 27445 broad.mit.edu 37 7 82545849 82545849 + Missense_Mutation SNP T G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:82545849T>G uc003uhx.2 - 6 11742 c.11453A>C c.(11452-11454)aAg>aCg p.K3818T PCLO_uc003uhv.2_Missense_Mutation_p.K3818T|PCLO_uc010lec.3_Missense_Mutation_p.K783T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3749 Gln-rich. 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 TCGTTCTCTCTTTTCTCTCTC 0.453000 37 40 0 0 0.006999 0 0 FGFR4 2264 broad.mit.edu 37 5 176517572 176517572 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:176517572C>T uc003mfl.3 + 2 440 c.273C>T c.(271-273)ttC>ttT p.F91F FGFR4_uc003mfm.3_Silent_p.F91F|FGFR4_uc011dfu.2_Silent_p.F91F|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_Silent_p.F91F|FGFR4_uc011dfw.1_Silent_p.F91F|FGFR4_uc003mfo.3_Silent_p.F91F NM_002011 NP_998812 P22455 FGFR4_HUMAN Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA. 91 Ig-like C2-type 1. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) TTGCCAGCTTCCTACCTGAGG 0.627000 TSP Lung(9;0.080) 15 13 0 0 0.013537 0 0 MYO15A 51168 broad.mit.edu 37 17 18023226 18023226 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:18023226C>T uc021trm.1 + 0 1331 c.1112C>T c.(1111-1113)cCc>cTc p.P371L MYO15A_uc021trl.1_Missense_Mutation_p.P371L NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 371 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TACTTTGATCCCTACGGAGTC 0.592000 37 14 0 0 0.001855 0 0 CREG1 8804 broad.mit.edu 37 1 167515488 167515488 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:167515488G>A uc001gel.3 - 2 587 c.509C>T c.(508-510)tCg>tTg p.S170L NM_003851 NP_003842 O75629 CREG1_HUMAN Homo sapiens cellular repressor of E1A-stimulated genes 1 (CREG1), mRNA. 170 cell proliferation|multicellular organismal development|regulation of growth|regulation of transcription from RNA polymerase II promoter extracellular region FMN binding|transcription corepressor activity AATGAATAACGAATGCTTTGC 0.353000 33 26 0 0 0.005443 0 0 C1orf65 164127 broad.mit.edu 37 1 223568396 223568396 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:223568396G>A uc001hoa.2 + 0 1682 c.1579G>A c.(1579-1581)Gac>Aac p.D527N NM_152610 NP_689823 Q8N715 CA065_HUMAN Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA. 527 breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3) 29 GBM - Glioblastoma multiforme(131;0.0704) GACCACTAGGGACAAGGTGCA 0.542000 33 18 0 0 0.012319 0 0 MARVELD3 91862 broad.mit.edu 37 16 71674823 71674823 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:71674823G>A uc002fau.3 + 2 1189 c.1126G>A c.(1126-1128)Gtg>Atg p.V376M PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR NM_001017967 NP_001017967 Q96A59 MALD3_HUMAN Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA. 379 MARVEL. integral to membrane NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2) 17 Ovarian(137;0.125) CGCCAGCGTGGTGCTGGCCCT 0.597000 12 11 0 0 0.008291 0 0 HYDIN 54768 broad.mit.edu 37 16 70917885 70917885 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:70917885C>T uc002ezr.3 - 58 10065 c.9914G>A c.(9913-9915)cGa>cAa p.R3305Q NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 3306 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) TGCAGGGTCTCGGCCGGAGAT 0.537000 25 5 0 0 0.001168 0 0 GRIK3 2899 broad.mit.edu 37 1 37271706 37271706 + Splice_Site SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:37271706C>T uc001caz.2 - 14 2449 c.2314_splice c.e14+1 p.G772_splice GRIK3_uc001cba.1_Splice_Site_p.G772_splice NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 772 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) CTCGCTCACCCATGGGCGTGC 0.652000 17 12 0 0 0.003163 0 0 GDPD2 54857 broad.mit.edu 37 X 69645640 69645640 + Nonsense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:69645640G>A uc011mpk.2 + 3 598 c.237G>A c.(235-237)tgG>tgA p.W79* GDPD2_uc010nkx.2_Nonsense_Mutation_p.W79*|GDPD2_uc010nky.2_Intron|GDPD2_uc004dyh.3_Nonsense_Mutation_p.W79*|GDPD2_uc011mpl.2_5'UTR|GDPD2_uc011mpm.2_5'UTR NM_001171192 NP_001164663 Q9HCC8 GDPD2_HUMAN Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA. 79 glycerol metabolic process|lipid metabolic process cytoplasm|cytoskeleton|integral to membrane|plasma membrane glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2) 22 Renal(35;0.156) GGGGACACTGGATGGACTGGT 0.617000 13 23 0 0 0.008361 0 0 GFRAL 389400 broad.mit.edu 37 6 55223918 55223918 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:55223918C>T uc003pcm.1 + 5 1020 c.934C>T c.(934-936)Cat>Tat p.H312Y NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 312 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GCACATGCTTCATAGAAAATC 0.338000 25 16 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179462310 179462310 + Missense_Mutation SNP T G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:179462310T>G uc021vsy.1 - 242 50020 c.49795A>C c.(49795-49797)Aat>Cat p.N16599H MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N10294H|TTN_uc021vta.1_Missense_Mutation_p.N10227H|TTN_uc021vtb.1_Missense_Mutation_p.N10102H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 17526 Fibronectin type-III 20. 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) CCGGCTTCATTTTTGGCAAGA 0.383000 34 21 0 0 0.008871 0 0 ADCY8 114 broad.mit.edu 37 8 131916041 131916041 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:131916041C>T uc003ytd.4 - 6 2144 c.1888G>A c.(1888-1890)Gat>Aat p.D630N ADCY8_uc010mds.3_Missense_Mutation_p.D630N NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 630 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ACGATATTATCAAAGGGCAGT 0.507000 HNSCC(32;0.087) 37 18 0 0 0.006122 0 0 OR6X1 390260 broad.mit.edu 37 11 123624405 123624405 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:123624405C>T uc010rzy.2 - 0 822 c.822G>A c.(820-822)gtG>gtA p.V274V NM_001005188 NP_001005188 Q8NH79 OR6X1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA. 274 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TAGTATTTAGCACAGACACCA 0.458000 40 37 0 0 0.003755 0 0 LAMB2 3913 broad.mit.edu 37 3 49159020 49159020 + Silent SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:49159020T>C uc003cwe.3 - 30 5405 c.5106A>G c.(5104-5106)ctA>ctG p.L1702L USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank NM_002292 NP_002283 P55268 LAMB2_HUMAN Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA. 1702 Domain I. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) GAGGACCGCGTAGCAGCTGCA 0.612000 27 4 0 0 0.009096 0 0 EIF2C1 26523 broad.mit.edu 37 1 36383199 36383199 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:36383199C>T uc001bzl.3 + 15 2247 c.2034C>T c.(2032-2034)ctC>ctT p.L678L EIF2C1_uc001bzk.3_Silent_p.L603L|EIF2C1_uc009vuy.3_Non-coding_Transcript NM_012199 NP_036331 Q9UL18 AGO1_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA. 678 Piwi. negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome RNA binding|protein binding biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1) 36 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CCTAGATACTCCACTATGAGC 0.448000 110 37 0 0 0.007835 0 0 SLC25A14 9016 broad.mit.edu 37 X 129474280 129474280 + Missense_Mutation SNP A T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:129474280A>T uc004evr.1 + 0 200 c.28A>T c.(28-30)Att>Ttt p.I10F SLC25A14_uc010nrg.3_Missense_Mutation_p.I10F|SLC25A14_uc011mut.2_Intron|SLC25A14_uc011muu.2_Missense_Mutation_p.I10F|SLC25A14_uc004evp.1_Missense_Mutation_p.I10F|SLC25A14_uc004evq.1_Missense_Mutation_p.I10F NM_022810 NP_073721 O95258 UCP5_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA. 10 aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1) 22 AATAATCCTAATTTTTCTAAG 0.498000 23 27 0 0 0.012213 0 0 RRM2 6241 broad.mit.edu 37 2 10267090 10267090 + Missense_Mutation SNP A C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:10267090A>C uc021vdr.1 + 5 889 c.838A>C c.(838-840)Acc>Ccc p.T280P NM_001034 NP_001159403 P31350 RIR2_HUMAN Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA. 220 DNA replication|deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol ribonucleoside-diphosphate reductase activity|transition metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1) 19 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221) CAAAGAGGCTACCTATGGTAA 0.458000 59 17 0 0 0.006122 0 0 CD79A 973 broad.mit.edu 37 19 42381431 42381431 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:42381431C>T uc002orv.3 + 0 242 c.57C>T c.(55-57)ttC>ttT p.F19F CD79A_uc002oru.3_Silent_p.F19F NM_001783 NP_001774 P11912 CD79A_HUMAN Homo sapiens CD79a molecule, immunoglobulin-associated alpha (CD79A), transcript variant 1, mRNA. 19 B cell differentiation|B cell proliferation|B cell receptor signaling pathway B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body transmembrane receptor activity p.L18L(1) large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 TCCTCCTCTTCCTGCTGTCTG 0.607000 """O, S""" DLBCL 26 22 0 0 0.003954 0 0 PTGFRN 5738 broad.mit.edu 37 1 117487403 117487403 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:117487403C>T uc001egv.1 + 2 658 c.521C>T c.(520-522)gCc>gTc p.A174V NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA. 174 Ig-like C2-type 2. Golgi apparatus|endoplasmic reticulum membrane|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GCCGCCTCCGCCTCGCCGCTG 0.781000 2 3 0 0 0.004672 0 0 HARS 3035 broad.mit.edu 37 5 140062741 140062741 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:140062741G>A uc003lgv.3 - 2 326 c.244C>T c.(244-246)Cgt>Tgt p.R82C HARS_uc003lgu.3_Missense_Mutation_p.R13C|HARS_uc011czm.2_Intron|HARS_uc003lgw.3_Missense_Mutation_p.R82C|HARS_uc011czn.2_Intron|HARS_uc011czo.2_Missense_Mutation_p.R82C|HARS_uc011czp.2_Intron|HARS_uc011czq.2_Missense_Mutation_p.R82C NM_002109 NP_002100 P12081 SYHC_HUMAN Homo sapiens histidyl-tRNA synthetase (HARS), mRNA. 82 histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 19 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) TTGAAGCAACGGATGATTACG 0.483000 48 17 0 0 0.006122 0 0 OR5D13 390142 broad.mit.edu 37 11 55541419 55541419 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:55541419C>T uc010ril.2 + 0 506 c.506C>T c.(505-507)tCg>tTg p.S169L NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) CTTGACTTATCGTTTTGTGAA 0.418000 41 20 0 0 0.007413 0 0 OR2T34 127068 broad.mit.edu 37 1 248737705 248737705 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:248737705G>A uc001iep.1 - 0 354 c.354C>T c.(352-354)ttC>ttT p.F118F NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA. 118 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 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) CAGCCAGGAGGAAAACCTCAG 0.562000 24 20 0 0 0.004656 0 0 SCEL 8796 broad.mit.edu 37 13 78187050 78187050 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr13:78187050C>T uc001vki.3 + 22 1532 c.1362C>T c.(1360-1362)atC>atT p.I454I SCEL_uc010thx.2_Silent_p.I412I|SCEL_uc001vkj.3_Silent_p.I434I NM_144777 NP_659001 O95171 SCEL_HUMAN Homo sapiens sciellin (SCEL), transcript variant 1, mRNA. 454 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) AAAATCTTATCAAAGTGATCC 0.264000 36 21 0 0 0.005443 0 0 PIGA 5277 broad.mit.edu 37 X 15344095 15344095 + Silent SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:15344095T>C uc004cwr.3 - 2 905 c.789A>G c.(787-789)ggA>ggG p.G263G PIGA_uc010neu.3_5'Flank|PIGA_uc010nev.3_Intron|PIGA_uc004cwq.3_5'UTR|PIGA_uc004cws.3_5'UTR|PIGA_uc011miq.2_Silent_p.G29G NM_002641 NP_002632 P37287 PIGA_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class A (PIGA), transcript variant 1, mRNA. 263 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) TTGGTCCCTCTCCTCCAATTA 0.373000 50 36 0 0 0.003271 0 0 ANK2 287 broad.mit.edu 37 4 114294517 114294517 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:114294517C>T uc003ibe.4 + 44 11871 c.11771C>T c.(11770-11772)cCa>cTa p.P3924L ANK2_uc003ibd.4_Missense_Mutation_p.P1830L|ANK2_uc003ibf.4_Missense_Mutation_p.P1839L|ANK2_uc011cgc.2_Missense_Mutation_p.P1015L|ANK2_uc003ibg.4_Missense_Mutation_p.P854L|ANK2_uc003ibh.4_Missense_Mutation_p.P544L|ANK2_uc010ims.3_Missense_Mutation_p.P6L|ANK2_uc010imr.3_Missense_Mutation_p.P6L NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 3891 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CAGGGAATGCCACAGGAACCT 0.433000 23 45 0 0 0.013114 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136159 40136159 + Missense_Mutation SNP G T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:40136159G>T uc021qgf.1 - 0 1684 c.1684C>A c.(1684-1686)Cca>Aca p.P562T LRRC4C_uc001mxc.1_Missense_Mutation_p.P558T|LRRC4C_uc001mxd.1_Missense_Mutation_p.P558T|LRRC4C_uc001mxa.1_Missense_Mutation_p.P562T|LRRC4C_uc001mxb.1_Missense_Mutation_p.P558T NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 562 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GTCCTTGTTGGGGCGTGATGG 0.493000 34 19 9.7654e-05 0.000156939 0.007413 1 0 PRAMEF1 65121 broad.mit.edu 37 1 12856118 12856118 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:12856118G>A uc001auj.2 + 3 1501 c.1398G>A c.(1396-1398)gaG>gaA p.E466E NM_023013 NP_075389 O95521 PRAM1_HUMAN Homo sapiens PRAME family member 1 (PRAMEF1), mRNA. 466 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 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;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CACCGTCTGAGGAACTGGAGC 0.542000 79 10 0 0 0.002450 0 0 IMPG2 50939 broad.mit.edu 37 3 100961721 100961721 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:100961721C>T uc003duq.2 - 13 3036 c.2833G>A c.(2833-2835)Ggg>Agg p.G945R IMPG2_uc011bhe.2_Missense_Mutation_p.G808R NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA. 945 SEA 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity p.T944T(1) NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TTCTGGAACCCCGTGAGATTT 0.408000 37 19 0 0 0.012319 0 0 BMP5 653 broad.mit.edu 37 6 55625290 55625290 + Missense_Mutation SNP C T T rs147691986 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:55625290C>T uc003pcq.3 - 4 1781 c.1069G>A c.(1069-1071)Gaa>Aaa p.E357K BMP5_uc011dxf.2_Missense_Mutation_p.E357K NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 357 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 45 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) ACATAGAGTTCGTGCTTCTTA 0.348000 39 9 0 0 0.008291 0 0 CHODL 140578 broad.mit.edu 37 21 19629025 19629025 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr21:19629025G>A uc002ykv.3 + 1 670 c.279G>A c.(277-279)ggG>ggA p.G93G CHODL_uc002ykr.3_Silent_p.G52G|CHODL_uc002yks.3_Silent_p.G52G|CHODL_uc021whr.1_Silent_p.G52G|CHODL_uc002ykt.3_Silent_p.G52G|CHODL_uc002yku.3_Silent_p.G52G|CHODL_uc021whs.1_Silent_p.G74G NM_024944 NP_001191105 Q9H9P2 CHODL_HUMAN Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA. 93 C-type lectin. muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) CCGGGACAGGGATTTCTGATG 0.488000 55 34 0 0 0.007835 0 0 ANKS1B 56899 broad.mit.edu 37 12 99223026 99223026 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:99223026C>T uc001tge.2 - 18 3409 c.2992G>A c.(2992-2994)Gat>Aat p.D998N ANKS1B_uc001tgf.2_Intron|ANKS1B_uc001tgk.3_Missense_Mutation_p.D295N|ANKS1B_uc010svd.2_Missense_Mutation_p.D4N|ANKS1B_uc001tgd.2_Intron|ANKS1B_uc009ztp.3_Missense_Mutation_p.D4N|ANKS1B_uc010svf.2_Missense_Mutation_p.D4N|ANKS1B_uc010sve.2_Missense_Mutation_p.D4N|ANKS1B_uc001tgh.4_Missense_Mutation_p.D4N|ANKS1B_uc009ztr.3_Intron|ANKS1B_uc001tgj.3_Intron|ANKS1B_uc001tgi.3_Missense_Mutation_p.D224N|ANKS1B_uc009zts.2_Missense_Mutation_p.D224N|ANKS1B_uc001tgg.4_Intron|ANKS1B_uc010svg.2_Intron NM_152788 NP_690001 Q7Z6G8 ANS1B_HUMAN Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA. 998 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) CTCCTTGCATCGCCCTGCATG 0.463000 73 46 0 0 0.014410 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37451602 37451602 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:37451602C>T uc021ppc.1 + 15 1857 c.1758C>T c.(1756-1758)ttC>ttT p.F586F ANKRD30A_uc001iza.1_Silent_p.F586F NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA. 642 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.F586L(2) 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 CATCTGCCTTCGAGGTATTTA 0.328000 34 40 0 0 0.013114 0 0 ROBO4 54538 broad.mit.edu 37 11 124756364 124756364 + Missense_Mutation SNP G T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:124756364G>T uc001qbg.3 - 15 2930 c.2790C>A c.(2788-2790)ttC>ttA p.F930L ROBO4_uc010sas.2_Missense_Mutation_p.F785L|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.3_Missense_Mutation_p.F488L NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA. 930 angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) ACATACCTATGAAGACGCAGT 0.498000 31 19 1.01871e-10 1.64886e-10 0.008871 1 0 RYR3 6263 broad.mit.edu 37 15 33858941 33858941 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:33858941G>A uc001zhi.3 + 11 1279 c.1209G>A c.(1207-1209)gaG>gaA p.E403E RYR3_uc010bar.3_Silent_p.E403E NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 403 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.R402C(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCCAGCGTGAGGAGTCCCAGG 0.517000 35 28 0 0 0.007291 0 0 KIF21B 23046 broad.mit.edu 37 1 200967659 200967659 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:200967659C>T uc001gvs.2 - 13 2247 c.1930G>A c.(1930-1932)Gaa>Aaa p.E644K KIF21B_uc009wzl.2_Missense_Mutation_p.E644K|KIF21B_uc001gvr.2_Missense_Mutation_p.E644K|KIF21B_uc010ppn.2_Missense_Mutation_p.E644K NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 644 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TGCTTGATTTCGATCTCACAA 0.567000 39 30 0 0 0.008361 0 0 DPPA4 55211 broad.mit.edu 37 3 109049504 109049504 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:109049504G>A uc003dxq.4 - 4 601 c.546C>T c.(544-546)tcC>tcT p.S182S DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Silent_p.S182S NM_018189 NP_060659 Q7L190 DPPA4_HUMAN Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA. 182 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 GGAGAGCAGTGGAATTTTCCA 0.557000 52 26 0 0 0.005443 0 0 B2M 567 broad.mit.edu 37 15 45003812 45003812 + Splice_Site SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:45003812G>A uc001zuc.3 + 1 127 c.67_splice c.e1+1 p.R23_splice B2M_uc010uek.1_Splice_Site_p.R23_splice|B2M_uc010bdx.1_Splice_Site_p.R23_splice NM_004048 NP_004039 P61769 B2MG_HUMAN Homo sapiens beta-2-microglobulin (B2M), mRNA. 23 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction Golgi membrane|MHC class I protein complex|early endosome membrane protein binding p.?(1) breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 59 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) GCTATCCAGCGTGAGTCTCTC 0.617000 12 8 0 0 0.004482 0 0 GPBP1L1 60313 broad.mit.edu 37 1 46120229 46120229 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:46120229C>T uc001coq.3 - 5 1824 c.463G>A c.(463-465)Gaa>Aaa p.E155K NM_021639 NP_067652 Q9HC44 GPBL1_HUMAN Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA. 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding GPBP1L1/MAST2_ENST00000361297(2) breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1) 21 Acute lymphoblastic leukemia(166;0.155) TCCTCCTCTTCAAACTGCAAC 0.408000 70 26 0 0 0.007291 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64558776 64558776 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:64558776C>T uc003jtp.3 - 12 2448 c.1634G>A c.(1633-1635)gGa>gAa p.G545E ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.G166E NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 545 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) AACACAATCTCCCTGATAACA 0.512000 13 11 0 0 0.013537 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 28 25 0 0 0.005443 0 0 CLPTM1 1209 broad.mit.edu 37 19 45476417 45476417 + Nonsense_Mutation SNP G T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:45476417G>T uc002pai.3 + 2 313 c.259G>T c.(259-261)Gga>Tga p.G87* CLPTM1_uc010ejv.1_5'UTR|CLPTM1_uc010xxf.2_5'UTR|CLPTM1_uc010xxg.2_Nonsense_Mutation_p.G73* NM_001294 NP_001285 O96005 CLPT1_HUMAN Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA. 87 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) GGGCCCCGGAGGAGCTCCACG 0.632000 96 68 1.4533e-46 2.38291e-46 0.014410 1 0 OR6B2 389090 broad.mit.edu 37 2 240969565 240969565 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:240969565G>A uc010zoc.2 - 0 282 c.282C>T c.(280-282)ttC>ttT p.F94F OR6B2_uc002vyr.3_Silent_p.F94F NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA. 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) TGCACCCGACGAAAGAGATGC 0.572000 21 11 0 0 0.002450 0 0 GNAS 2778 broad.mit.edu 37 20 57428691 57428691 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:57428691C>T uc002xzw.3 + 0 656 c.371C>T c.(370-372)cCc>cTc p.P124L GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 0 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCTGGATTCCCCAGTGGGGTC 0.632000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 28 12 0 0 0.002450 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140174764 140174764 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:140174764G>A uc003lhd.2 + 0 321 c.215G>A c.(214-216)gGg>gAg p.G72E PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.G72E|PCDHAC2_uc011czy.2_Missense_Mutation_p.G72E NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 89 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAAGACACGGGGACCTTCTG 0.622000 48 34 0 0 0.005524 0 0 GALNT8 26290 broad.mit.edu 37 12 4848473 4848473 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:4848473G>A uc001qne.1 + 2 746 c.654G>A c.(652-654)ttG>ttA p.L218L NM_017417 NP_059113 Q9NY28 GALT8_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA. 218 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 AAATCATCTTGGTGGATGATT 0.418000 44 12 0 0 0.013537 0 0 FSD1 79187 broad.mit.edu 37 19 4318404 4318404 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:4318404C>T uc002lzy.2 + 8 1014 c.861C>T c.(859-861)tcC>tcT p.S287S FSD1_uc002maa.2_Silent_p.S100S NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA. 287 B30.2/SPRY. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) ATGATCTCTCCGTGGAGTGGG 0.627000 15 8 0 0 0.004482 0 0 MDFI 4188 broad.mit.edu 37 6 41613945 41613945 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:41613945C>T uc003oqq.4 + 2 365 c.158C>T c.(157-159)tCc>tTc p.S53F MDFI_uc010jxn.3_Missense_Mutation_p.S53F NM_005586 NP_005577 Q99750 MDFI_HUMAN Homo sapiens MyoD family inhibitor (MDFI), mRNA. 53 cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1) 8 Ovarian(28;0.0327)|Colorectal(47;0.121) Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138) GAGGAGGGCTCCCTGGAGGAG 0.627000 19 16 0 0 0.006122 0 0 ADAM10 102 broad.mit.edu 37 15 58902632 58902632 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:58902632G>A uc002afd.1 - 13 2333 c.1889C>T c.(1888-1890)tCc>tTc p.S630F ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.S329F|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.S167F NM_001110 NP_001101 O14672 ADA10_HUMAN Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA. 630 Cys-rich. Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) GTTGCAAGGGGATCCAGGTTG 0.468000 32 17 0 0 0.004990 0 0 SHC1 6464 broad.mit.edu 37 1 154941262 154941262 + Silent SNP C A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:154941262C>A uc001ffv.3 - 2 836 c.615G>T c.(613-615)gcG>gcT p.A205A SHC1_uc001ffw.3_Silent_p.A205A|SHC1_uc001ffx.3_Silent_p.A95A|SHC1_uc001ffy.3_Silent_p.A95A|SHC1_uc001ffz.1_5'Flank NM_183001 NP_001189788 P29353 SHC1_HUMAN Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA. 205 PID. A -> V (in dbSNP:rs8191981). Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth Shc-EGFR complex|cytosol|mitochondrial matrix epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCCTCCTTGTCGCCCCCTTAG 0.637000 42 38 2.01872e-29 3.29568e-29 0.014410 1 0 PCDHB15 56121 broad.mit.edu 37 5 140626131 140626131 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:140626131G>A uc003lje.3 + 0 985 c.985G>A c.(985-987)Gga>Aga p.G329R NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN Homo sapiens protocadherin beta 15 (PCDHB15), mRNA. 329 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGACTTTCTGGAAAATGCTC 0.413000 60 19 0 0 0.008871 0 0 RBKS 64080 broad.mit.edu 37 2 28113191 28113192 + Nonsense_Mutation DNP GG AA AA TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:28113191_28113192GG>AA uc002rlo.1 - 0 32_33 c.21_22CC>TT c.(19-24)ccccag>ccTTag p.Q8* BRE_uc002rlp.1_5'Flank|BRE_uc002rlq.3_5'Flank|BRE_uc002rlr.3_5'Flank|BRE_uc002rls.3_5'Flank|BRE_uc002rlt.3_5'Flank|BRE_uc002rlu.3_5'Flank|RBKS_uc010ezi.1_5'UTR|RBKS_uc010ymg.2_Nonsense_Mutation_p.Q8*|RBKS_uc010ymh.2_Non-coding_Transcript NM_022128 NP_071411 Q9H477 RBSK_HUMAN Homo sapiens ribokinase (RBKS), mRNA. 8 D-ribose metabolic process ATP binding|ribokinase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(172;0.155) CACTGCCTCTGGGGTTCCCCAG 0.649000 13 7 0 0 0.004672 0 0 PTPN21 11099 broad.mit.edu 37 14 88945372 88945372 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:88945372G>A uc001xwv.4 - 12 2734 c.2403C>T c.(2401-2403)ctC>ctT p.L801L PTPN21_uc010twc.2_Silent_p.L597L NM_007039 NP_008970 Q16825 PTN21_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA. 801 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CTGACGTGGTGAGGTCGGACT 0.647000 16 10 0 0 0.008291 0 0 MYH13 8735 broad.mit.edu 37 17 10206725 10206725 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:10206725C>T uc002gmk.1 - 37 5647 c.5557G>A c.(5557-5559)Gag>Aag p.E1853K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1853 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity p.K1852N(1) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TAAGTCATCTCCTTGACTTTG 0.547000 30 36 0 0 0.004289 0 0 ABL2 27 broad.mit.edu 37 1 179095764 179095764 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:179095764C>T uc001gmj.4 - 3 722 c.435G>A c.(433-435)tgG>tgA p.W145* ABL2_uc010pnf.2_Nonsense_Mutation_p.W145*|ABL2_uc010png.2_Nonsense_Mutation_p.W124*|ABL2_uc010pnh.2_Nonsense_Mutation_p.W124*|ABL2_uc009wxe.3_Nonsense_Mutation_p.W124*|ABL2_uc001gmg.4_Nonsense_Mutation_p.W130*|ABL2_uc001gmi.4_Nonsense_Mutation_p.W130*|ABL2_uc010pne.2_Nonsense_Mutation_p.W109*|ABL2_uc001gmk.3_Nonsense_Mutation_p.W109*|ABL2_uc009wxf.2_Nonsense_Mutation_p.W130* NM_007314 NP_009298 P42684 ABL2_HUMAN Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA. 145 SH3. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GAACTTCACTCCACTCACCAT 0.473000 T ETV6 AML 16 26 0 0 0.005443 0 0 TRIM35 23087 broad.mit.edu 37 8 27146715 27146715 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:27146715G>A uc003xfl.1 - 4 950 c.868C>T c.(868-870)Cgc>Tgc p.R290C TRIM35_uc010lup.1_Missense_Mutation_p.P250L NM_171982 NP_741983 Q9UPQ4 TRI35_HUMAN Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA. 290 B30.2/SPRY. apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle cytoplasm|nucleus zinc ion binding breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 14 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141) TTCCAGACGCGGTACTGCAGG 0.572000 7 11 0 0 0.013537 0 0 ENC1 8507 broad.mit.edu 37 5 73931417 73931417 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:73931417G>A uc003kdc.4 - 1 2025 c.894C>T c.(892-894)ttC>ttT p.F298F ENC1_uc011css.2_Silent_p.F225F|ENC1_uc021yao.1_Silent_p.F298F NM_003633 NP_003624 O14682 ENC1_HUMAN Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA. 298 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) CTCCCAGAAGGAAGAGGGCAT 0.507000 20 9 0 0 0.004482 0 0 AMOT 154796 broad.mit.edu 37 X 112058649 112058649 + Silent SNP G A A rs149397566 byFrequency TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:112058649G>A uc004epr.3 - 1 1347 c.1329C>T c.(1327-1329)gaC>gaT p.D443D AMOT_uc004eps.3_Silent_p.D34D|AMOT_uc004ept.1_Silent_p.D443D NM_001113490 NP_573572 Q4VCS5 AMOT_HUMAN Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA. 443 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 TCCGGTTCTCGTCTGAGAGGA 0.522000 56 85 0 0 0.014410 0 0 UROC1 131669 broad.mit.edu 37 3 126226832 126226832 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:126226832C>T uc010hsi.2 - 4 572 c.518G>A c.(517-519)cGg>cAg p.R173Q UROC1_uc003eiz.2_Missense_Mutation_p.R173Q NM_001165974 NP_001159446 Q96N76 HUTU_HUMAN Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA. 173 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GATGACGAGCCGTGGGGCACT 0.592000 29 21 0 0 0.012319 0 0 LRRN3 54674 broad.mit.edu 37 7 110763912 110763912 + Missense_Mutation SNP G A A rs145461505 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:110763912G>A uc003vft.4 + 3 2130 c.1084G>A c.(1084-1086)Gaa>Aaa p.E362K IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.E362K|LRRN3_uc003vfs.4_Missense_Mutation_p.E362K|LRRN3_uc022akc.1_Missense_Mutation_p.E362K NM_001099660 NP_060804 Q9H3W5 LRRN3_HUMAN Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA. 362 integral to membrane p.E362K(4) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) AAACCTCAAGGAAATCAGCAT 0.463000 40 13 0 0 0.001855 0 0 JAM3 83700 broad.mit.edu 37 11 134009758 134009758 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:134009758G>A uc001qhb.2 + 1 248 c.224G>A c.(223-225)gGg>gAg p.G75E JAM3_uc009zcz.2_Missense_Mutation_p.G30E NM_032801 NP_116190 Q9BX67 JAM3_HUMAN Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA. 30 Ig-like V-type. angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1) 10 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) TGCCTGATAGGGGCTGTAAAT 0.453000 OREG0021547 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 12 0 0 0.013537 0 0 PLD1 5337 broad.mit.edu 37 3 171427469 171427470 + Missense_Mutation DNP TC GT GT TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:171427469_171427470TC>GT uc003fhs.3 - 9 1288_1289 c.941_942GA>AC c.(940-942)aga>aAC p.R314N PLD1_uc003fht.3_Missense_Mutation_p.R314N NM_002662 NP_002653 Q13393 PLD1_HUMAN Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA. 314 PH. Ras protein signal transduction|cell communication|chemotaxis Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ACCGAGCATGTCTATAGCTGTT 0.386000 53 24 0 0 0.004672 0 0 SLC12A7 10723 broad.mit.edu 37 5 1053505 1053505 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:1053505T>C uc003jbu.3 - 22 3185 c.3119A>G c.(3118-3120)aAc>aGc p.N1040S NM_006598 NP_006589 Q9Y666 S12A7_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA. 1040 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) ACCTGGCATGTTGAGCAGGAC 0.612000 30 6 0 0 0.001984 0 0 DNAH1 25981 broad.mit.edu 37 3 52356589 52356589 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:52356589G>A uc011bef.2 + 1 392 c.131G>A c.(130-132)gGa>gAa p.G44E DNAH1_uc003ddt.1_Missense_Mutation_p.G44E NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 44 Stem (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) ATTCTTCCAGGATCAGACTAT 0.617000 16 11 0 0 0.013537 0 0 TNXB 7148 broad.mit.edu 37 6 32036905 32036906 + Missense_Mutation DNP CC TT TT TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:32036905_32036906CC>TT uc003nzl.2 - 15 5797_5798 c.5595_5596GG>AA c.(5593-5598)agggaa>agAAaa p.E1866K NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1948 Fibronectin type-III 11. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCCGTTTCTTCCCTGCCGGCTG 0.629000 134 21 0 0 0.004672 0 0 YLPM1 56252 broad.mit.edu 37 14 75302090 75302090 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:75302090C>T uc001xqj.4 + 19 6541 c.6417C>T c.(6415-6417)gcC>gcT p.A2139A YLPM1_uc001xql.4_Non-coding_Transcript NM_019589 NP_062535 P49750 YLPM1_HUMAN Homo sapiens YLP motif containing 1 (YLPM1), mRNA. 1944 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CTGAAAAAGCCCTCAATCGAA 0.413000 36 16 0 0 0.004990 0 0 ABCA4 24 broad.mit.edu 37 1 94502706 94502706 + Missense_Mutation SNP C T T rs61752425 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:94502706C>T uc001dqh.3 - 24 3912 c.3808G>A c.(3808-3810)Gaa>Aaa p.E1270K NM_000350 NP_000341 P78363 ABCA4_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA. 1270 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances p.E1270D(1) NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TTTACCTCTTCCAGGGGAGTG 0.453000 50 57 0 0 0.014410 0 0 BCMO1 53630 broad.mit.edu 37 16 81319193 81319193 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:81319193G>A uc002fgn.1 + 8 1474 c.1256G>A c.(1255-1257)cGa>cAa p.R419Q BCMO1_uc010vnp.1_Missense_Mutation_p.R350Q NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA. 419 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 AAGCAATACCGATATGTCTTT 0.478000 41 14 0 0 0.004007 0 0 CHIC1 53344 broad.mit.edu 37 X 72797281 72797281 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:72797281C>T uc004ebk.4 + 1 472 c.335C>T c.(334-336)tCc>tTc p.S112F CHIC1_uc010nlo.3_Non-coding_Transcript|CHIC1_uc004ebl.4_Missense_Mutation_p.S112F|CHIC1_uc011mql.2_Missense_Mutation_p.S112F NM_001039840 NP_001034929 Q5VXU3 CHIC1_HUMAN Homo sapiens cysteine-rich hydrophobic domain 1 (CHIC1), mRNA. 112 cytoplasmic membrane-bounded vesicle|plasma membrane endometrium(1)|large_intestine(1)|lung(2) 4 Renal(35;0.156) GAATTTCCCTCCGTTCTAACA 0.343000 40 62 0 0 0.014410 0 0 OR10G2 26534 broad.mit.edu 37 14 22102909 22102909 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:22102909G>A uc010tmc.2 - 0 90 c.90C>T c.(88-90)ctC>ctT p.L30L NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA. 30 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) CCAGGAAGAGGAGGCTTCTTA 0.502000 42 28 0 0 0.008361 0 0 CACNA1D 776 broad.mit.edu 37 3 53845310 53845310 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:53845310C>T uc003dgv.4 + 47 6526 c.6363C>T c.(6361-6363)ccC>ccT p.P2121P CACNA1D_uc003dgu.4_Silent_p.P2141P|CACNA1D_uc003dgy.4_Silent_p.P2097P|CACNA1D_uc003dgw.4_Silent_p.P1788P|CACNA1D_uc011bes.2_Non-coding_Transcript NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 2121 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ATGTGGGCCCCCTCTCACACC 0.612000 31 13 0 0 0.001855 0 0 DIO2 1734 broad.mit.edu 37 14 80669401 80669401 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:80669401G>A uc021rxa.1 - 2 614 c.561C>T c.(559-561)tcC>tcT p.S187S DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Silent_p.S151S|DIO2_uc010asy.3_Silent_p.S151S NM_001007023 Q92813 IOD2_HUMAN Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA. 151 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) CAGCCACTGAGGAGAACTCTT 0.562000 OREG0022848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 5 0 0 0.000602 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45457959 45457959 + RNA SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:45457959G>A uc001rol.3 - 0 c.1236C>T Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. TTCTCTTTCAGCTTTTACTGT 0.438000 18 9 0 0 0.010729 0 0 ZNF208 7757 broad.mit.edu 37 19 22156113 22156113 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:22156113G>A uc021urr.1 - 3 1872 c.1723C>T c.(1723-1725)Cat>Tat p.H575Y ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TCTACAGTATGAATTTTCTTA 0.348000 17 11 0 0 0.010729 0 0 PPP2R2B 5521 broad.mit.edu 37 5 145972568 145972568 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:145972568C>T uc011dbv.2 - 9 1455 c.1192G>A c.(1192-1194)Gat>Aat p.D398N PPP2R2B_uc010jgm.3_Missense_Mutation_p.D329N|PPP2R2B_uc003loe.3_Missense_Mutation_p.D340N|PPP2R2B_uc003log.4_Missense_Mutation_p.D340N|PPP2R2B_uc003lof.4_Missense_Mutation_p.D340N|PPP2R2B_uc003loi.4_Missense_Mutation_p.D343N|PPP2R2B_uc003loh.4_Missense_Mutation_p.D340N|PPP2R2B_uc003lok.4_Missense_Mutation_p.D329N|PPP2R2B_uc003loj.4_Missense_Mutation_p.D320N|PPP2R2B_uc011dbu.2_Missense_Mutation_p.D346N NM_181675 NP_858061 Q00005 2ABB_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA. 340 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.V398G(2) endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCAAATTTATCAAAAATGCAG 0.418000 90 64 0 0 0.014410 0 0 BZRAP1 9256 broad.mit.edu 37 17 56403732 56403732 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:56403732C>T uc002ivx.4 - 2 1363 c.492G>A c.(490-492)agG>agA p.R164R BZRAP1_uc010dcs.3_Silent_p.R164R|BZRAP1_uc010wnt.2_Silent_p.R164R|LOC100506779_uc021uan.1_Intron|LOC100506779_uc010dct.2_5'Flank|LOC100506779_uc010dcu.2_5'Flank NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 164 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CGGCGTTCTTCCTCTTCAGCC 0.607000 24 24 0 0 0.004656 0 0 ITGAL 3683 broad.mit.edu 37 16 30522415 30522415 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:30522415C>T uc002dyi.4 + 23 2920 c.2744C>T c.(2743-2745)aCc>aTc p.T915I ITGAL_uc002dyj.4_Missense_Mutation_p.T831I|ITGAL_uc010vev.2_Missense_Mutation_p.T149I NM_002209 NP_002200 P20701 ITAL_HUMAN Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA. 915 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex cell adhesion molecule binding|receptor activity p.T915I(2) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TCAGCCACTACCATCATCCCC 0.567000 35 31 0 0 0.003271 0 0 CLIP2 7461 broad.mit.edu 37 7 73791003 73791003 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:73791003C>T uc003uam.3 + 9 2599 c.2272C>T c.(2272-2274)Ctg>Ttg p.L758L CLIP2_uc003uan.3_Silent_p.L723L|CLIP2_uc003uao.3_Silent_p.L152L NM_003388 NP_003379 Q9UDT6 CLIP2_HUMAN Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA. 758 microtubule associated complex breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3) 30 GCAGATCTCGCTGGCCGAGAA 0.627000 38 12 0 0 0.001855 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561454 11561454 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:11561454G>A uc001ash.4 + 1 543 c.405G>A c.(403-405)cgG>cgA p.R135R PTCHD2_uc001asi.1_Silent_p.R135R NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN Homo sapiens patched domain containing 2 (PTCHD2), mRNA. 135 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CCTGGGGGCGGAACCGGCGCG 0.607000 33 18 0 0 0.006122 0 0 GNAS 2778 broad.mit.edu 37 20 57429123 57429123 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:57429123C>T uc002xzw.3 + 0 1088 c.803C>T c.(802-804)cCc>cTc p.P268L GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 0 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CGCCTCACTCCCGCCGCGAAC 0.692000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 8 4 0 0 0.001168 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115510 15115510 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:15115510C>T uc003bzm.1 - 13 2748 c.2134G>A c.(2134-2136)Gag>Aag p.E712K ZFYVE20_uc010hek.1_Missense_Mutation_p.E712K NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA. 712 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 GTGGGTTCCTCAAAGGGGTTA 0.552000 40 21 0 0 0.010504 0 0 MPRIP 23164 broad.mit.edu 37 17 17049351 17049352 + Missense_Mutation DNP CC TT TT rs139934070 by1000genomes TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:17049351_17049352CC>TT uc002gqv.2 + 9 1240_1241 c.1151_1152CC>TT c.(1150-1152)ccc>cTT p.P384L MPRIP_uc002gqu.2_Missense_Mutation_p.P384L|MPRIP_uc002gqw.2_Missense_Mutation_p.P139L NM_015134 NP_055949 Q6WCQ1 MPRIP_HUMAN Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA. 384 cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CTTTCTCAGCCCGACCTGCTGA 0.545000 13 6 0 0 0.004672 0 0 SLC9C2 284525 broad.mit.edu 37 1 173493180 173493180 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:173493180G>A uc001giz.2 - 20 2991 c.2568C>T c.(2566-2568)ccC>ccT p.P856P SLC9C2_uc009wwe.2_Silent_p.P414P NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 856 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity CAGGAGTTGGGGGTGGGATTG 0.358000 65 30 0 0 0.013726 0 0 X06774 0 broad.mit.edu 37 7 38370059 38370059 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:38370059C>T uc010kxj.1 - 1 375 c.239G>A c.(238-240)gGa>gAa p.G80E X06774_uc010kxk.1_Non-coding_Transcript Homo sapiens cDNA FLJ77147 complete cds, highly similar to Homo sapiens T cell receptor gamma variable 7, mRNA. TCGACTGATTCCTGATTCCAA 0.458000 46 11 0 0 0.013537 0 0 TROAP 10024 broad.mit.edu 37 12 49724243 49724243 + Missense_Mutation SNP C G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:49724243C>G uc009zlh.3 + 12 1782 c.1615C>G c.(1615-1617)Cag>Gag p.Q539E TROAP_uc001rtx.4_Missense_Mutation_p.Q539E NM_005480 NP_005471 Q12815 TROAP_HUMAN Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA. 539 4 X 33 AA approximate tandem repeats.|Cys-rich. cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 GCCCTCCCTCCAGGAACAGCT 0.632000 22 26 0 0 0.004656 0 0 XIRP2 129446 broad.mit.edu 37 2 168100212 168100212 + Silent SNP A C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:168100212A>C uc002udx.3 + 8 2399 c.2310A>C c.(2308-2310)gcA>gcC p.A770A XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.A595A|XIRP2_uc010fpq.3_Silent_p.A548A|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 595 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAAGAACAGCACGGTGGATGT 0.383000 30 21 0 0 0.012319 0 0 GJB3 2707 broad.mit.edu 37 1 35251051 35251051 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:35251051T>C uc001bxz.4 + 0 688 c.688T>C c.(688-690)Tcg>Ccg p.S230P GJB3_uc001bxx.3_Missense_Mutation_p.S230P|GJB3_uc001bxy.3_Missense_Mutation_p.S230P NM_024009 NP_076872 O75712 CXB3_HUMAN Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA. 230 cell communication connexon complex|integral to membrane gap junction channel activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) TTGCAGCCCCTCGTCCTCCGC 0.632000 15 8 0 0 0.003080 0 0 MYH10 4628 broad.mit.edu 37 17 8393840 8393840 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:8393840G>A uc002glm.3 - 34 4798 c.4702C>T c.(4702-4704)Cta>Tta p.L1568L MYH10_uc002gll.3_Silent_p.L1537L|MYH10_uc010cnx.3_Silent_p.L1546L NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 1537 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TGCTGCTCTAGGGCCCGTTTG 0.532000 26 23 0 0 0.003330 0 0 INHBC 3626 broad.mit.edu 37 12 57843234 57843234 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:57843234C>T uc001snv.1 + 1 615 c.488C>T c.(487-489)aCc>aTc p.T163I NM_005538 NP_005529 P55103 INHBC_HUMAN Homo sapiens inhibin, beta C (INHBC), mRNA. 163 growth extracellular region growth factor activity|hormone activity|transforming growth factor beta receptor binding breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1) 16 ACCAACCTCACCTTGGCTACT 0.567000 45 39 0 0 0.007835 0 0 GDF10 2662 broad.mit.edu 37 10 48429087 48429087 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:48429087C>T uc001jfb.3 - 1 1227 c.799G>A c.(799-801)Gac>Aac p.D267N GDF10_uc009xnp.3_Missense_Mutation_p.D266N|GDF10_uc009xnq.2_Missense_Mutation_p.D267N NM_004962 NP_004953 P55107 BMP3B_HUMAN Homo sapiens growth differentiation factor 10 (GDF10), mRNA. 267 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 GGGAAGGGGTCGTATCTCTGC 0.701000 2 6 0 0 0.001168 0 0 POM121L12 285877 broad.mit.edu 37 7 53104126 53104126 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:53104126C>T uc003tpz.3 + 0 778 c.762C>T c.(760-762)tcC>tcT p.S254S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 254 p.S254S(2) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CTTGGCCTTCCGTGCTGGTCC 0.637000 19 26 0 0 0.005443 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85165263 85165263 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:85165263C>T uc002bkr.3 + 2 2063 c.1837C>T c.(1837-1839)Ctt>Ttt p.L613F ZSCAN2_uc010bmz.1_Missense_Mutation_p.L611F|ZSCAN2_uc010bna.3_Missense_Mutation_p.L463F|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron NM_181877 NP_870992 Q7Z7L9 ZSCA2_HUMAN Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA. 613 cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) GAAAGAGAAACTTTATTGAAG 0.493000 24 27 0 0 0.004656 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107450539 107450539 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:107450539C>T uc002tdq.3 - 2 1126 c.1007G>A c.(1006-1008)gGg>gAg p.G336E ST6GAL2_uc002tdr.3_Missense_Mutation_p.G336E|ST6GAL2_uc002tds.3_Missense_Mutation_p.G336E NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 336 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 GGTTTTATTCCCAACATCTTT 0.388000 87 52 0 0 0.014410 0 0 ZNF638 27332 broad.mit.edu 37 2 71591243 71591243 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:71591243C>T uc002shx.3 + 4 1901 c.1578C>T c.(1576-1578)tgC>tgT p.C526C ZNF638_uc010fec.2_Silent_p.C632C|ZNF638_uc010yqw.1_Silent_p.C105C|ZNF638_uc002shw.3_Silent_p.C526C|ZNF638_uc002shz.3_Silent_p.C526C|ZNF638_uc002shy.3_Silent_p.C526C|ZNF638_uc002sia.3_Silent_p.C526C|ZNF638_uc002sib.1_Silent_p.C526C NM_014497 NP_055312 Q14966 ZN638_HUMAN Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA. 526 Arg-rich. RNA splicing cytoplasm|nuclear speck RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 63 CAAGAATTTGCCATCGTTTCA 0.428000 33 22 0 0 0.012319 0 0 KIAA1751 85452 broad.mit.edu 37 1 1900131 1900131 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:1900131C>T uc001aim.1 - 10 1344 c.1188G>A c.(1186-1188)tgG>tgA p.W396* KIAA1751_uc009vkz.1_Nonsense_Mutation_p.W396* NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN Homo sapiens KIAA1751 (KIAA1751), mRNA. 396 breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 32 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-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)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) AAATGTAGTTCCAGGTCTTGT 0.537000 93 77 0 0 0.014410 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70940196 70940196 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:70940196C>T uc001jpe.1 + 0 204 c.149C>T c.(148-150)tCc>tTc p.S50F SUPV3L1_uc010qjd.1_5'UTR NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA. 50 DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACCGCCTCCTCCTCTGCCTCC 0.657000 9 34 0 0 0.004878 0 0 LILRB1 10859 broad.mit.edu 37 19 55144201 55144201 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:55144201C>T uc002qgj.3 + 6 1288 c.948C>T c.(946-948)atC>atT p.I316I LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.I316I|LILRB1_uc002qgk.3_Silent_p.I316I|LILRB1_uc002qgm.3_Silent_p.I316I|LILRB1_uc010erq.3_Silent_p.I316I|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 316 Ig-like C2-type 4. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCCTGGACATCCTGATCGCAG 0.682000 HNSCC(37;0.09) 28 8 0 0 0.008291 0 0 RP1 6101 broad.mit.edu 37 8 55540771 55540771 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:55540771G>A uc003xsd.1 + 3 4477 c.4329G>A c.(4327-4329)cgG>cgA p.R1443R RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1443 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.R1443Q(1)|p.R1443W(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAGAACCACGGACTTCTGAAG 0.343000 22 21 0 0 0.012319 0 0 CCNJL 79616 broad.mit.edu 37 5 159680613 159680613 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:159680613G>A uc003lyb.1 - 6 1332 c.1080C>T c.(1078-1080)tcC>tcT p.S360S CCNJL_uc011dee.1_Silent_p.S312S|CCNJL_uc003lyc.1_Non-coding_Transcript NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN Homo sapiens cyclin J-like (CCNJL), mRNA. 360 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGCCTGCAAGGAGTCCCGAT 0.657000 16 16 0 0 0.004007 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140865237 140865237 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:140865237C>T uc003lky.2 + 0 497 c.497C>T c.(496-498)tCg>tTg p.S166L PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.S166L NM_018928 NP_061751 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA. 166 Cadherin 2. 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) GGGAGCAATTCGATTAGCAGC 0.567000 20 20 0 0 0.012319 0 0 SOS1 6654 broad.mit.edu 37 2 39240630 39240630 + Missense_Mutation SNP C A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:39240630C>A uc002rrk.4 - 12 2179 c.2138G>T c.(2137-2139)cGa>cTa p.R713L SOS1_uc002rrj.4_Missense_Mutation_p.R327L NM_005633 NP_005624 Q07889 SOS1_HUMAN Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA. 713 N-terminal Ras-GEF. Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway cytosol DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) TTCTTCCATTCGTTGCAAAAG 0.333000 Noonan syndrome 93 36 7.61001e-30 1.24418e-29 0.005524 1 0 PROKR2 128674 broad.mit.edu 37 20 5283294 5283294 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:5283294G>A uc010zqw.2 - 1 555 c.547C>T c.(547-549)Ctc>Ttc p.L183F PROKR2_uc010zqx.2_Missense_Mutation_p.L183F|PROKR2_uc010zqy.2_Missense_Mutation_p.L183F NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 183 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 ATGGCAATGAGAATGGACACC 0.512000 HNSCC(71;0.22) 87 39 0 0 0.011902 0 0 C6orf162 57150 broad.mit.edu 37 6 88046794 88046794 + Silent SNP C A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:88046794C>A uc003plp.1 + 2 134 c.45C>A c.(43-45)ccC>ccA p.P15P C6orf162_uc021zck.1_Non-coding_Transcript|C6orf162_uc003plq.1_Silent_p.P15P NM_001042493 NP_065158 Q96KF7 CF162_HUMAN Homo sapiens chromosome 6 open reading frame 162 (C6orf162), transcript variant 1, mRNA. 15 integral to membrane kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05) BRCA - Breast invasive adenocarcinoma(108;0.0164) AGGAACCACCCAAAGAGAAAG 0.383000 24 28 3.1745e-13 5.15287e-13 0.008361 1 0 SIM1 6492 broad.mit.edu 37 6 100841464 100841464 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:100841464C>T uc003pqj.4 - 9 1936 c.1469G>A c.(1468-1470)tGg>tAg p.W490* SIM1_uc021zdg.1_Nonsense_Mutation_p.W490*|SIM1_uc010kcu.3_Nonsense_Mutation_p.W490* NM_005068 NP_005059 P81133 SIM1_HUMAN Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA. 490 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.W490L(2) breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GCGAGAGCCCCACCAGGGCTC 0.607000 17 28 0 0 0.007291 0 0 EFCAB6 64800 broad.mit.edu 37 22 43996104 43996104 + Silent SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr22:43996104T>C uc003bdy.2 - 22 3035 c.2721A>G c.(2719-2721)gaA>gaG p.E907E EFCAB6_uc003bdz.2_Silent_p.E755E|EFCAB6_uc010gzi.2_Silent_p.E755E|EFCAB6_uc010gzj.1_Silent_p.E133E NM_022785 NP_942153 Q5THR3 EFCB6_HUMAN Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA. 907 EF-hand 10. 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) TCTGTAAAAATTCCTGGTAAG 0.428000 158 68 0 0 0.014410 0 0 IL12RB1 3594 broad.mit.edu 37 19 18177379 18177380 + Nonsense_Mutation DNP GG AA AA TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:18177379_18177380GG>AA uc002nhx.1 - 12 1626_1627 c.1575_1576CC>TT c.(1573-1578)tgccga>tgTTga p.R526* IL12RB1_uc002nhw.1_Nonsense_Mutation_p.R486*|IL12RB1_uc010xqb.1_Nonsense_Mutation_p.R486* NM_005535 NP_005526 P42701 I12R1_HUMAN Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA. 486 Fibronectin type-III 5. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 TCTTCATCTCGGCAGCGGACAA 0.564000 32 18 0 0 0.004672 0 0 GJA5 2702 broad.mit.edu 37 1 147230938 147230938 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:147230938C>T uc021ovl.1 - 0 409 c.409G>A c.(409-411)Gag>Aag p.E137K GJA5_uc001eps.1_Missense_Mutation_p.E137K|GJA5_uc001ept.1_Missense_Mutation_p.E137K NM_181703 NP_859054 P36382 CXA5_HUMAN Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA. 137 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) TTCCCTTCCTCCCAGCAGGAC 0.607000 44 16 0 0 0.003163 0 0 NLRP7 199713 broad.mit.edu 37 19 55452870 55452870 + Silent SNP C T T rs111764628 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:55452870C>T uc002qih.4 - 1 286 c.210G>A c.(208-210)gcG>gcA p.A70A NLRP7_uc010esk.3_Silent_p.A70A|NLRP7_uc002qig.4_Silent_p.A70A|NLRP7_uc002qii.4_Silent_p.A70A|NLRP7_uc010esl.3_Silent_p.A98A NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 70 DAPIN. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGTTCACAGTCGCATTCCTTA 0.463000 63 28 0 0 0.007291 0 0 PCK1 5105 broad.mit.edu 37 20 56138761 56138761 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:56138761C>T uc002xyn.4 + 5 1102 c.939C>T c.(937-939)gcC>gcT p.A313A PCK1_uc010zzm.2_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA. 313 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) ATGACATTGCCTGGATGAAGT 0.557000 48 25 0 0 0.004656 0 0 ANKRD36 375248 broad.mit.edu 37 2 97881266 97881266 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:97881266C>T uc010yva.2 + 61 3949 c.3705C>T c.(3703-3705)ttC>ttT p.F1235F ANKRD36_uc002sxr.1_Intron NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA. 1235 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 ATGTAATGTTCGATCAAATAG 0.358000 15 6 0 0 0.004482 0 0 ZPLD1 131368 broad.mit.edu 37 3 102187967 102187967 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:102187967C>T uc003dvt.1 + 7 1069 c.969C>T c.(967-969)ccC>ccT p.P323P ZPLD1_uc003dvs.1_Silent_p.P307P|ZPLD1_uc011bhg.1_Silent_p.P307P NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA. 307 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ATGACTGCCCCTTCCTTATGC 0.383000 43 15 0 0 0.006122 0 0 MYH8 4626 broad.mit.edu 37 17 10304037 10304037 + Silent SNP C T T rs78443907 by1000genomes TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:10304037C>T uc002gmm.2 - 26 3500 c.3405G>A c.(3403-3405)gcG>gcA p.A1135A AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 1135 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 GCTGCTTCTCCGCTTTGGCTC 0.557000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 18 33 0 0 0.003271 0 0 ALMS1 7840 broad.mit.edu 37 2 73784358 73784358 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:73784358C>T uc002sje.1 + 13 10198 c.10087C>T c.(10087-10089)Caa>Taa p.Q3363* ALMS1_uc002sjf.1_Nonsense_Mutation_p.Q3321*|ALMS1_uc002sjg.3_Nonsense_Mutation_p.Q2751*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.Q2751*|ALMS1_uc010fev.1_Nonsense_Mutation_p.Q123* NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA. 3363 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 TGCCTCAGTTCAAGTGCTAAT 0.413000 37 26 0 0 0.004656 0 0 CSMD3 114788 broad.mit.edu 37 8 113702234 113702234 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:113702234C>T uc003ynu.3 - 13 2177 c.2018G>A c.(2017-2019)gGa>gAa p.G673E CSMD3_uc003yns.3_5'UTR|CSMD3_uc003ynt.3_Missense_Mutation_p.G633E|CSMD3_uc011lhx.2_Missense_Mutation_p.G569E NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 673 Sushi 3. 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 TTCTCTAATTCCATATAAGGG 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 145 88 0 0 0.014410 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140167118 140167118 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:140167118C>T uc003lhb.2 + 0 1243 c.1243C>T c.(1243-1245)Cgc>Tgc p.R415C PCDHAC2_uc003lha.2_Missense_Mutation_p.R415C|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R415C NM_018900 NP_061723 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA. 429 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCCCTGGATCGCGAGAGCCT 0.637000 68 28 0 0 0.010818 0 0 PRUNE2 158471 broad.mit.edu 37 9 79267526 79267526 + Silent SNP A T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:79267526A>T uc010mpk.3 - 10 8554 c.8430T>A c.(8428-8430)ctT>ctA p.L2810L PRUNE2_uc011lsk.2_Silent_p.L59L|PRUNE2_uc011lsl.2_Silent_p.L74L|PRUNE2_uc011lsm.2_Silent_p.L74L|PRUNE2_uc004akj.4_Silent_p.L263L|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Silent_p.L263L NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 2810 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GGTCCAGAGAAAGATTGATAT 0.413000 107 57 0 0 0.014410 0 0 SZT2 23334 broad.mit.edu 37 1 43891205 43891205 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:43891205C>T uc001cjk.2 + 18 2790 c.180C>T c.(178-180)ctC>ctT p.L60L SZT2_uc009vws.1_Silent_p.L902L NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 902 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 ACTCAGAGCTCAATCTGGTCA 0.557000 92 27 0 0 0.006320 0 0 GABRE 2564 broad.mit.edu 37 X 151123421 151123421 + Missense_Mutation SNP C T T rs150837963 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:151123421C>T uc004ffi.3 - 8 1327 c.1273G>A c.(1273-1275)Gcc>Acc p.A425T GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript NM_004961 NP_004952 P78334 GBRE_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA. 425 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGCTGCTGGGCTGAGCAAGAC 0.602000 4 7 0 0 0.003080 0 0 OR2H1 26716 broad.mit.edu 37 6 29430399 29430399 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:29430399C>T uc003nmi.3 + 2 1296 c.853C>T c.(853-855)Cct>Tct p.P285S OR2H1_uc003nmj.1_Missense_Mutation_p.P285S|OR2H1_uc010jri.2_Missense_Mutation_p.P207S|OR2H1_uc021ytr.1_Missense_Mutation_p.P285S NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA. 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 TTCACTTAACCCTCTCGTATA 0.502000 22 31 0 0 0.008361 0 0 SULT1E1 6783 broad.mit.edu 37 4 70710024 70710024 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:70710024G>A uc003heo.3 - 6 740 c.627C>T c.(625-627)ttC>ttT p.F209F NM_005420 NP_005411 P49888 ST1E1_HUMAN Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA. 209 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 TCCTTTCCAGGAAATGTATCA 0.353000 24 40 0 0 0.011902 0 0 CDHR3 222256 broad.mit.edu 37 7 105645017 105645017 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:105645017C>T uc003vdl.4 + 7 1044 c.936C>T c.(934-936)tcC>tcT p.S312S CDHR3_uc003vdk.3_5'UTR|CDHR3_uc011kls.1_Non-coding_Transcript|CDHR3_uc003vdm.4_Silent_p.S299S|CDHR3_uc011klt.2_Silent_p.S224S|CDHR3_uc003vdn.3_Silent_p.S29S NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN Homo sapiens cadherin-related family member 3 (CDHR3), mRNA. 312 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CCACCATTTCCCTGGAAGTTC 0.483000 15 14 0 0 0.003163 0 0 NUP210 23225 broad.mit.edu 37 3 13438860 13438860 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:13438860C>T uc003bxv.1 - 2 516 c.433G>A c.(433-435)Gaa>Aaa p.E145K NM_024923 NP_079199 Q8TEM1 PO210_HUMAN Homo sapiens nucleoporin 210kDa (NUP210), mRNA. 145 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TTCTCACCTTCGGAGTCCAGG 0.592000 15 12 0 0 0.003163 0 0 SPRY2 10253 broad.mit.edu 37 13 80911390 80911390 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr13:80911390G>A uc001vli.3 - 1 1429 c.451C>T c.(451-453)Cgg>Tgg p.R151W SPRY2_uc001vlj.3_Missense_Mutation_p.R151W|SPRY2_uc021rkz.1_Missense_Mutation_p.R151W NM_005842 NP_005833 O43597 SPY2_HUMAN Homo sapiens sprouty homolog 2 (Drosophila) (SPRY2), mRNA. 151 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) GGTTGCACCCGGATTATGCCA 0.562000 31 4 0 0 0.000602 0 0 TTC26 79989 broad.mit.edu 37 7 138853101 138853101 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:138853101C>T uc003vus.2 + 10 1077 c.963C>T c.(961-963)ctC>ctT p.L321L TTC26_uc003vur.4_Silent_p.L321L|TTC26_uc011kqn.1_Silent_p.L321L|TTC26_uc011kqo.1_Silent_p.L290L|TTC26_uc011kqp.1_Silent_p.L216L|TTC26_uc003vut.2_Silent_p.L181L|TTC26_uc011kqq.1_Silent_p.L190L NM_024926 NP_079202 A0AVF1 TTC26_HUMAN Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA. 321 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 AGTATATTCTCAAAGGAGTGG 0.363000 31 8 0 0 0.003080 0 0 HRNR 388697 broad.mit.edu 37 1 152185756 152185756 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:152185756G>A uc001ezt.1 - 2 8425 c.8349C>T c.(8347-8349)tcC>tcT p.S2783S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 2783 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCGTAGCTGGAAGACTGCC 0.567000 28 8 0 0 0.001855 0 0 OR13H1 347468 broad.mit.edu 37 X 130678657 130678657 + Missense_Mutation SNP T G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:130678657T>G uc011muw.2 + 0 610 c.610T>G c.(610-612)Ttc>Gtc p.F204V IGSF1_uc004ewf.2_Intron NM_001004486 NP_001004486 Q8NG92 O13H1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA. 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) CACCAGTATCTTCACCCTGCT 0.453000 100 36 0 0 0.006230 0 0 ROS1 6098 broad.mit.edu 37 6 117631415 117631415 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:117631415G>A uc003pxp.1 - 39 6462 c.6263C>T c.(6262-6264)tCc>tTc p.S2088F ROS1_uc011ebi.1_Non-coding_Transcript NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 2088 Protein kinase. 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) GTCTTTCACGGAAACAAGGCA 0.378000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 48 37 0 0 0.006999 0 0 SNRNP40 9410 broad.mit.edu 37 1 31744311 31744311 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:31744311G>A uc010oge.2 - 5 736 c.690C>T c.(688-690)acC>acT p.T230T SNRNP40_uc009vtt.3_5'Flank|SNRNP40_uc001bso.3_Silent_p.T230T NM_004814 NP_004805 Q96DI7 SNR40_HUMAN Homo sapiens small nuclear ribonucleoprotein 40kDa (U5) (SNRNP40), mRNA. 230 U5 snRNP|catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 7 GGCCTCTCATGGTGTAGGTTA 0.438000 45 59 0 0 0.014410 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786624 19786624 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:19786624C>T uc003zoa.2 - 0 394 c.241G>A c.(241-243)Ggt>Agt p.G81S SLC24A2_uc003zob.2_Missense_Mutation_p.G81S NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA. 81 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) TGATGGTAACCCTGTGCTACC 0.448000 42 26 0 0 0.003954 0 0 ZNF408 79797 broad.mit.edu 37 11 46726247 46726247 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:46726247C>T uc001nde.2 + 4 1278 c.997C>T c.(997-999)Cct>Tct p.P333S ZNF408_uc010rgw.2_Missense_Mutation_p.P325S NM_024741 NP_079017 Q9H9D4 ZN408_HUMAN Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA. 333 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTCTGGCTTCCCTACACTCTC 0.632000 16 22 0 0 0.012319 0 0 MYH2 4620 broad.mit.edu 37 17 10429146 10429146 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:10429146G>A uc010coi.3 - 30 4363 c.4235C>T c.(4234-4236)gCt>gTt p.A1412V AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1412V|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. 1412 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 GGCGTTCACAGCTTCTACATG 0.483000 31 25 0 0 0.005443 0 0 ALB 213 broad.mit.edu 37 4 74277741 74277741 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:74277741C>T uc003hgs.4 + 6 815 c.742C>T c.(742-744)Ccc>Tcc p.P248S ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Missense_Mutation_p.P56S|ALB_uc011cbf.2_Missense_Mutation_p.P138S NM_000477 NP_000468 P02768 ALBU_HUMAN Homo sapiens albumin (ALB), mRNA. 248 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) CCAGAGATTTCCCAAAGCTGA 0.413000 25 44 0 0 0.014410 0 0 PTPRT 11122 broad.mit.edu 37 20 40748607 40748607 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:40748607T>C uc002xkg.3 - 19 3036 c.2852A>G c.(2851-2853)tAc>tGc p.Y951C PTPRT_uc010ggj.3_Missense_Mutation_p.Y970C|PTPRT_uc010ggi.3_Missense_Mutation_p.Y154C NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 951 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.R950L(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGGTCGATGGTATCCCTGGAT 0.488000 81 5 0 0 0.001168 0 0 DCLK2 166614 broad.mit.edu 37 4 151114386 151114386 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:151114386C>T uc003ilo.4 + 2 1607 c.853C>T c.(853-855)Cat>Tat p.H285Y DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.H285Y|DCLK2_uc003iln.4_Missense_Mutation_p.H285Y NM_001040261 NP_001035351 Q8N568 DCLK2_HUMAN Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA. 285 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TGTCCTGGATCATAGTGGTAA 0.393000 24 51 0 0 0.014410 0 0 COQ4 51117 broad.mit.edu 37 9 131088065 131088065 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:131088065C>T uc004bur.4 + 3 654 c.307C>T c.(307-309)Ccc>Tcc p.P103S COQ4_uc011max.1_Missense_Mutation_p.P103S|COQ4_uc010mxy.3_Missense_Mutation_p.P79S NM_016035 NP_057119 Q9Y3A0 COQ4_HUMAN Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA. 103 ubiquinone biosynthetic process mitochondrial inner membrane endometrium(4)|large_intestine(1)|lung(4) 9 CAGGGAGCGTCCCCGGATTTC 0.597000 24 7 0 0 0.004482 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140256014 140256014 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:140256014G>A uc003lic.2 + 0 1084 c.957G>A c.(955-957)caG>caA p.Q319Q PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.Q319Q NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 334 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAAATTCAGGTTAACGCCA 0.398000 37 39 0 0 0.006230 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033518 95033518 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:95033518G>A uc010avd.3 + 2 1246 c.972G>A c.(970-972)agG>agA p.R324R SERPINA4_uc001ydk.3_Silent_p.R287R|SERPINA4_uc001ydl.3_Silent_p.R287R NM_006215 NP_006206 P29622 KAIN_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA. 287 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.S324A(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GCAAAATGAGGGAGATTGAAG 0.468000 15 13 0 0 0.013537 0 0 KCNA4 3739 broad.mit.edu 37 11 30032279 30032279 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:30032279C>T uc021qfi.1 - 0 1947 c.1947G>A c.(1945-1947)gtG>gtA p.V649V KCNA4_uc001msk.3_Silent_p.V649V NM_002233 NP_002224 P22459 KCNA4_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA. 649 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CATCAGTCTCCACAGCCTTTG 0.428000 54 11 0 0 0.010729 0 0 GPR158 57512 broad.mit.edu 37 10 25701267 25701267 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:25701267C>T uc001isj.3 + 3 1260 c.1200C>T c.(1198-1200)ccC>ccT p.P400P NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 400 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AGGGCTGCCCCTTCTGTGCTG 0.498000 31 82 0 0 0.014410 0 0 DEFB112 245915 broad.mit.edu 37 6 50016297 50016297 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:50016297G>A uc011dws.2 - 0 68 c.68C>T c.(67-69)tCc>tTc p.S23F NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN Homo sapiens defensin, beta 112 (DEFB112), mRNA. 23 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) AAATATTGTGGAAGATGTATT 0.333000 43 24 0 0 0.006320 0 0 GPR116 221395 broad.mit.edu 37 6 46828470 46828470 + Silent SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:46828470T>C uc003oyo.3 - 15 2650 c.2361A>G c.(2359-2361)gtA>gtG p.V787V GPR116_uc011dwj.1_Silent_p.V342V|GPR116_uc011dwk.1_Silent_p.V216V|GPR116_uc003oyp.3_Silent_p.V645V|GPR116_uc003oyq.3_Silent_p.V787V|GPR116_uc010jzi.1_Silent_p.V459V NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 787 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.Q786*(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TTTCTGAATTTACTTGGGTTG 0.418000 35 10 0 0 0.008291 0 0 AGRP 181 broad.mit.edu 37 16 67516960 67516960 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:67516960C>T uc002etg.1 - 2 484 c.184G>A c.(184-186)Gat>Aat p.D62N ATP6V0D1_uc002ete.1_5'Flank|ATP6V0D1_uc010vjo.1_5'Flank NM_001138 NP_001129 O00253 AGRP_HUMAN Homo sapiens agouti related protein homolog (mouse) (AGRP), mRNA. 62 hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior Golgi lumen|extracellular space neuropeptide hormone activity endometrium(1) 1 Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16) TGCAACAGATCCTCTTCTGCC 0.607000 33 24 0 0 0.006320 0 0 FOLH1 2346 broad.mit.edu 37 11 49196493 49196493 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:49196493C>T uc001ngy.3 - 8 1317 c.1056G>A c.(1054-1056)gtG>gtA p.V352V FOLH1_uc009yly.3_Silent_p.V337V|FOLH1_uc009ylz.3_Silent_p.V337V|FOLH1_uc001ngz.3_Silent_p.V352V|FOLH1_uc009yma.3_Silent_p.V44V NM_004476 NP_001180402 Q04609 FOLH1_HUMAN Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA. 352 NAALADase. 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) AAATTCTTGTCACTTCATTGG 0.338000 24 5 0 0 0.000602 0 0 COL15A1 1306 broad.mit.edu 37 9 101777808 101777808 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:101777808C>T uc004azb.1 + 9 1669 c.1463C>T c.(1462-1464)cCc>cTc p.P488L NM_001855 NP_001846 P39059 COFA1_HUMAN Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA. 488 4 X tandem repeats.|Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) GGCCTGGCTCCCCTCACAGCC 0.562000 12 7 0 0 0.004482 0 0 ZAN 7455 broad.mit.edu 37 7 100348354 100348354 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:100348354C>T uc003uwj.3 + 11 1521 c.1356C>T c.(1354-1356)ttC>ttT p.F452F ZAN_uc003uwk.3_Silent_p.F452F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 452 MAM 3. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCGTGGAGTTCGCATACCACA 0.597000 12 5 0 0 0.001168 0 0 FCRL4 83417 broad.mit.edu 37 1 157556119 157556119 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:157556119C>T uc001fqw.3 - 5 1110 c.974G>A c.(973-975)cGa>cAa p.R325Q FCRL4_uc010phy.2_Non-coding_Transcript NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Homo sapiens Fc receptor-like 4 (FCRL4), mRNA. 325 Ig-like C2-type 4. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CATGTCCTCTCGGTGCCAGGA 0.607000 37 19 0 0 0.007413 0 0 PIK3CD 5293 broad.mit.edu 37 1 9787030 9787030 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:9787030G>A uc001aqe.4 + 22 3341 c.3133G>A c.(3133-3135)Gaa>Aaa p.E1045K PIK3CD_uc001aqb.4_Missense_Mutation_p.E1021K|PIK3CD_uc010oaf.2_Missense_Mutation_p.E1020K|PIK3CD_uc021ogb.1_Missense_Mutation_p.E805K NM_005026 NP_005017 O00329 PK3CD_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA. 1021 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GAAGTTTAACGAAGCCCTCCG 0.567000 19 20 0 0 0.010504 0 0 MIXL1 83881 broad.mit.edu 37 1 226413317 226413317 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:226413317C>T uc010pvm.2 + 1 503 c.503C>T c.(502-504)aCg>aTg p.T168M NM_031944 NP_114150 Q9H2W2 MIXL1_HUMAN Homo sapiens Mix paired-like homeobox (MIXL1), mRNA. 168 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.109) GGAACTGAAACGAAATGTCTG 0.557000 39 14 0 0 0.002450 0 0 CMKLR1 1240 broad.mit.edu 37 12 108686389 108686389 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:108686389G>A uc009zuw.3 - 2 542 c.351C>T c.(349-351)ttC>ttT p.F117F CMKLR1_uc001tmw.3_Silent_p.F117F|CMKLR1_uc001tmv.3_Silent_p.F115F|CMKLR1_uc009zuv.3_Silent_p.F117F|CMKLR1_uc021rdj.1_Silent_p.F115F NM_001142345 NP_004063 Q99788 CML1_HUMAN Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA. 117 chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development integral to plasma membrane chemokine receptor activity p.L117L(1) endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 37 GGATGAGAAGGAAGTTGCTGA 0.532000 34 6 0 0 0.001168 0 0 CHST10 9486 broad.mit.edu 37 2 101010059 101010059 + Missense_Mutation SNP A G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:101010059A>G uc002tam.3 - 6 1117 c.719T>C c.(718-720)tTc>tCc p.F240S NM_004854 NP_004845 O43529 CHSTA_HUMAN Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA. 240 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 GTAGCGCACGAAATCTTCAAA 0.542000 91 49 0 0 0.014410 0 0 NID1 4811 broad.mit.edu 37 1 236154255 236154255 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:236154255C>T uc001hxo.3 - 13 2961 c.2859G>A c.(2857-2859)aaG>aaA p.K953K NID1_uc009xgd.3_Silent_p.K820K|NID1_uc009xgc.3_Silent_p.K39K NM_002508 NP_002499 P14543 NID1_HUMAN Homo sapiens nidogen 1 (NID1), mRNA. 953 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GGCGCTCAATCTTCCCAGTCT 0.572000 17 7 0 0 0.003080 0 0 THSD4 79875 broad.mit.edu 37 15 72037448 72037448 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:72037448C>T uc002atb.1 + 10 1989 c.1910C>T c.(1909-1911)tCg>tTg p.S637L THSD4_uc002ate.2_Missense_Mutation_p.S277L NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA. 637 proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 GTTGCAGGATCGCAGTACCCT 0.547000 116 90 0 0 0.014410 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94881382 94881382 + Missense_Mutation SNP G T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:94881382G>T uc003unp.3 + 10 2821 c.2539G>T c.(2539-2541)Ggg>Tgg p.G847W PPP1R9A_uc010lfj.3_Missense_Mutation_p.G869W|PPP1R9A_uc011kif.2_Missense_Mutation_p.G847W|PPP1R9A_uc003unq.3_Missense_Mutation_p.G847W|PPP1R9A_uc011kig.2_Missense_Mutation_p.G847W NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA. 847 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AGTCTCTAAAGGGGATACCAT 0.408000 HNSCC(28;0.073) 24 23 6.21321e-17 1.01143e-16 0.002780 1 0 NUP160 23279 broad.mit.edu 37 11 47827791 47827791 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:47827791G>A uc001ngm.3 - 19 2605 c.2520C>T c.(2518-2520)ttC>ttT p.F840F NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Silent_p.F840F NM_015231 NP_056046 Q12769 NU160_HUMAN Homo sapiens nucleoporin 160kDa (NUP160), mRNA. 840 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|cytosol nucleocytoplasmic transporter activity|protein binding NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2) 53 TTGGCTGAGAGAAGAGGTGAG 0.353000 44 40 0 0 0.005524 0 0 KRT5 3852 broad.mit.edu 37 12 52913965 52913965 + Missense_Mutation SNP C G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:52913965C>G uc001san.3 - 0 279 c.116G>C c.(115-117)gGg>gCg p.G39A KRT5_uc009zmh.3_Missense_Mutation_p.G39A NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 39 Gly-rich.|Head. 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) ACCGCCACCCCCGGACCGGGA 0.677000 25 3 0 0 0.004672 0 0 ZBED1 9189 broad.mit.edu 37 X 2407161 2407161 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:2407161G>A uc022brx.1 - 0 1600 c.1600C>T c.(1600-1602)Cgg>Tgg p.R534W DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.R534W|ZBED1_uc004cqg.2_Missense_Mutation_p.R534W|ZBED1_uc022brw.1_Missense_Mutation_p.R534W NM_004729 NP_004720 O96006 ZBED1_HUMAN Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA. 534 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTGGATGTCCGCATGAGCTTC 0.652000 6 13 0 0 0.004007 0 0 RGS7BP 401190 broad.mit.edu 37 5 63894231 63894231 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:63894231G>A uc003jtj.3 + 4 651 c.651G>A c.(649-651)agG>agA p.R217R RGS7BP_uc011cqu.2_Silent_p.R84R NM_001029875 NP_001025046 Q6MZT1 R7BP_HUMAN Homo sapiens regulator of G-protein signaling 7 binding protein (RGS7BP), mRNA. 217 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane p.R217M(1) breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) GCAAACTCAGGGAAACTATGC 0.333000 96 67 0 0 0.014410 0 0 KAT2B 8850 broad.mit.edu 37 3 20153274 20153274 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:20153274C>T uc003cbq.3 + 5 1484 c.1038C>T c.(1036-1038)ttC>ttT p.F346F NM_003884 NP_003875 Q92831 KAT2B_HUMAN Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA. 346 N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 40 TCACTCATTTCCCAAAGTAAG 0.423000 21 6 0 0 0.003080 0 0 TRAT1 50852 broad.mit.edu 37 3 108572538 108572538 + Silent SNP G A A rs143422005 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:108572538G>A uc003dxi.1 + 5 519 c.375G>A c.(373-375)agG>agA p.R125R TRAT1_uc010hpx.1_Silent_p.R88R NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA. 125 T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling T cell receptor complex|integral to plasma membrane phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity p.R125R(2) endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 GAAAGCCCAGGAAACAGAATA 0.433000 29 23 0 0 0.014323 0 0 NLRP14 338323 broad.mit.edu 37 11 7064042 7064042 + Missense_Mutation SNP A T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:7064042A>T uc001mfb.1 + 3 1108 c.785A>T c.(784-786)gAt>gTt p.D262V NM_176822 NP_789792 Q86W24 NAL14_HUMAN Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA. 262 NACHT. cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GACAGTTTCGATGAACTGAAC 0.448000 50 7 0 0 0.001984 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870703 51870703 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:51870703G>A uc002xwo.3 + 1 1593 c.706G>A c.(706-708)Gaa>Aaa p.E236K TSHZ2_uc021wex.1_Missense_Mutation_p.E233K NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 236 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) GCACATGAATGAAACGGGCCA 0.532000 23 16 0 0 0.004007 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833006 101833006 + Missense_Mutation SNP A G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:101833006A>G uc001pgm.3 + 5 1510 c.1240A>G c.(1240-1242)Aca>Gca p.T414A KIAA1377_uc001pgn.3_Missense_Mutation_p.T370A|KIAA1377_uc010run.2_Missense_Mutation_p.T215A|KIAA1377_uc009yxa.1_Missense_Mutation_p.T215A NM_020802 NP_065853 Q9P2H0 K1377_HUMAN Homo sapiens KIAA1377 (KIAA1377), mRNA. 414 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TGAGAGCCCAACATTTAAATT 0.373000 24 18 0 0 0.007413 0 0 HCN4 10021 broad.mit.edu 37 15 73622119 73622119 + Missense_Mutation SNP C T T rs146714274 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:73622119C>T uc002avp.3 - 3 2379 c.1385G>A c.(1384-1386)gGg>gAg p.G462E NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA. 462 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GTACTGCTTCCCCCAGGAGTT 0.622000 12 7 0 0 0.003080 0 0 HECTD1 25831 broad.mit.edu 37 14 31598181 31598181 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:31598181G>A uc001wrc.1 - 24 4885 c.4396C>T c.(4396-4398)Cct>Tct p.P1466S HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.P934S NM_015382 NP_056197 Q9ULT8 HECD1_HUMAN Homo sapiens HECT domain containing 1 (HECTD1), mRNA. 1466 Ser-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GAACTATCAGGGCCTAACTTC 0.443000 32 14 0 0 0.004007 0 0 OR4K2 390431 broad.mit.edu 37 14 20345228 20345228 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:20345228G>A uc001vwh.1 + 0 802 c.802G>A c.(802-804)Gac>Aac p.D268N NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA. 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T267R(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTTCTCACAGACAAGATTCT 0.398000 70 15 0 0 0.003163 0 0 KIF6 221458 broad.mit.edu 37 6 39693057 39693057 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:39693057C>T uc003oot.2 - 0 125 c.30G>A c.(28-30)gcG>gcA p.A10A KIF6_uc011dua.1_Silent_p.A10A|KIF6_uc010jxb.1_Silent_p.A10A NM_145027 NP_659464 Q6ZMV9 KIF6_HUMAN Homo sapiens kinesin family member 6 (KIF6), mRNA. 10 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 GCTTCACCCTCGCGAATATCT 0.667000 60 49 0 0 0.014410 0 0 MRC2 9902 broad.mit.edu 37 17 60742014 60742014 + Missense_Mutation SNP A C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:60742014A>C uc002jad.3 + 1 626 c.224A>C c.(223-225)cAg>cCg p.Q75P Y_RNA_uc021ubi.1_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 75 Ricin B-type lectin. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 CTCCCTGCCCAGCGCTGGAAG 0.652000 34 5 0 0 0.000602 0 0 ZNF831 128611 broad.mit.edu 37 20 57829713 57829713 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:57829713G>A uc002yan.3 + 4 4949 c.4949G>A c.(4948-4950)aGt>aAt p.S1650N NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1650 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AAGAAGAGGAGTCTGGAAGGA 0.443000 40 18 0 0 0.007413 0 0 GFRAL 389400 broad.mit.edu 37 6 55216236 55216236 + Silent SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:55216236T>C uc003pcm.1 + 4 642 c.556T>C c.(556-558)Ttg>Ctg p.L186L NM_207410 NP_997293 Q6UXV0 GFRAL_HUMAN Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA. 186 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TGCCCAGATGTTGGCTTTTTG 0.438000 49 38 0 0 0.006999 0 0 PMFBP1 83449 broad.mit.edu 37 16 72164148 72164148 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:72164148C>T uc002fcc.4 - 11 1933 c.1761G>A c.(1759-1761)atG>atA p.M587I PMFBP1_uc002fcd.3_Missense_Mutation_p.M582I|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.M437I|PMFBP1_uc010cgo.1_5'Flank NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 587 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CATTCATTTTCATATCCTGCT 0.463000 65 21 0 0 0.002780 0 0 KRT26 353288 broad.mit.edu 37 17 38923894 38923894 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:38923894G>A uc002hvf.3 - 6 1245 c.1199C>T c.(1198-1200)tCc>tTc p.S400F NM_181539 NP_853517 Q7Z3Y9 K1C26_HUMAN Homo sapiens keratin 26 (KRT26), mRNA. 400 Tail. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) GTAACATGTGGATTTGCTTTT 0.318000 37 25 0 0 0.008361 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058027 152058027 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:152058027C>T uc001ezo.1 - 2 2196 c.2131G>A c.(2131-2133)Gga>Aga p.G711R 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) GTTGCTCTTCCTTTCTCTTCT 0.443000 70 66 0 0 0.014410 0 0 CPN2 1370 broad.mit.edu 37 3 194062986 194062986 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:194062986G>A uc003fts.3 - 1 536 c.446C>T c.(445-447)tCc>tTc p.S149F CPN2_uc021xix.1_Missense_Mutation_p.S149F NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 149 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CAGGTGGAGGGACTCCAGGGC 0.622000 27 18 0 0 0.007413 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6427490 6427490 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:6427490G>A uc001qnr.3 + 10 1327 c.1179G>A c.(1177-1179)ctG>ctA p.L393L PLEKHG6_uc001qns.3_Silent_p.L393L|PLEKHG6_uc010sew.2_Silent_p.L393L|PLEKHG6_uc010sex.2_Silent_p.L361L NM_018173 NP_060643 Q3KR16 PKHG6_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA. 393 regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 TCTCCACCCTGGACCTGACGT 0.652000 15 11 0 0 0.013537 0 0 PFKFB1 5207 broad.mit.edu 37 X 54964045 54964045 + Missense_Mutation SNP A G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:54964045A>G uc004dty.1 - 10 1282 c.1211T>C c.(1210-1212)tTc>tCc p.F404S PFKFB1_uc010nkd.1_Missense_Mutation_p.F212S|PFKFB1_uc011mol.1_Missense_Mutation_p.F339S NM_002625 NP_002616 P16118 F261_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA. 404 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1) 24 TTTATCCAGGAAATAGGCCAG 0.463000 8 10 0 0 0.002450 0 0 ZNF607 84775 broad.mit.edu 37 19 38189123 38189123 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:38189123T>C uc002ohc.2 - 4 2505 c.1909A>G c.(1909-1911)Agc>Ggc p.S637G ZNF607_uc002ohb.2_Missense_Mutation_p.S636G NM_032689 NP_116078 Q96SK3 ZN607_HUMAN Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA. 637 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) GCATGAACGCTTTCATGTCTA 0.368000 54 10 0 0 0.008291 0 0 OR2M1P 388762 broad.mit.edu 37 1 248285594 248285594 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:248285594G>A uc001idy.1 + 0 157 c.157G>A c.(157-159)Gac>Aac p.D53N Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA. TATGTCTTATGACTGCTACAT 0.453000 113 63 0 0 0.014410 0 0 BAIAP2 10458 broad.mit.edu 37 17 79077486 79077486 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:79077486C>T uc002jzg.2 + 7 935 c.827C>T c.(826-828)cCc>cTc p.P276L BAIAP2_uc002jyz.4_Missense_Mutation_p.P276L|BAIAP2_uc002jza.2_Missense_Mutation_p.P276L|BAIAP2_uc002jzc.2_Missense_Mutation_p.P276L|BAIAP2_uc002jzb.2_Missense_Mutation_p.P33L|BAIAP2_uc010wuh.1_Missense_Mutation_p.P198L|BAIAP2_uc002jzd.2_Missense_Mutation_p.P276L|BAIAP2_uc002jzf.2_Missense_Mutation_p.P276L|BAIAP2_uc002jze.2_Missense_Mutation_p.P309L|BAIAP2_uc002jzh.2_Missense_Mutation_p.P277L|BAIAP2_uc010wui.2_Missense_Mutation_p.P139L NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA. 276 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1) 18 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) GGGGCCAAGCCCCTGCCGGTG 0.682000 10 11 0 0 0.002450 0 0 NEIL2 252969 broad.mit.edu 37 8 11640909 11640909 + Splice_Site SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:11640909G>A uc003wug.2 + 4 1363 c.688_splice c.e4+1 p.G230_splice NEIL2_uc003wue.2_Splice_Site_p.G230_splice|NEIL2_uc003wuf.2_Splice_Site_p.G169_splice|NEIL2_uc011kxd.1_Splice_Site_p.G114_splice NM_145043 NP_001129219 Q969S2 NEIL2_HUMAN Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA. 230 base-excision repair|nucleotide-excision repair nucleus DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) TCAGGGCTAGGTATGACTCAT 0.537000 Base excision repair (BER), DNA glycosylases 29 18 0 0 0.008871 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764752 138764752 + Missense_Mutation SNP G A A rs150932310 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:138764752G>A uc003vun.3 - 3 1323 c.935C>T c.(934-936)tCg>tTg p.S312L ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Missense_Mutation_p.S312L NM_020119 NP_064504 Q7Z2W4 ZCCHV_HUMAN Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA. 312 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 AGCCTTGGACGAGCCTGAGGG 0.587000 26 29 0 0 0.005443 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995786 57995786 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:57995786G>A uc010rkd.2 - 0 605 c.562C>T c.(562-564)Ccc>Tcc p.P188S NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA. 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) CGCAGGACGGGAGGCACATCG 0.622000 15 17 0 0 0.012319 0 0 GLYR1 84656 broad.mit.edu 37 16 4867659 4867659 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:4867659G>A uc002cxx.4 - 9 883 c.846C>T c.(844-846)atC>atT p.I282I GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Silent_p.I196I|GLYR1_uc002cya.2_Silent_p.I282I|GLYR1_uc010uxv.1_Silent_p.I201I NM_032569 NP_115958 Q49A26 GLYR1_HUMAN Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA. 282 pentose-phosphate shunt nucleus DNA binding|coenzyme binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 AGTTGGAGACGATTCCACTTC 0.502000 51 20 0 0 0.010504 0 0 SERPINB3 6317 broad.mit.edu 37 18 61322896 61322896 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr18:61322896G>A uc002lji.3 - 7 1312 c.1168C>T c.(1168-1170)Ccg>Tcg p.P390S SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.P338S NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 390 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity p.P390Q(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TGCATCTACGGGGATGAGAAT 0.398000 32 55 0 0 0.014410 0 0 LTF 4057 broad.mit.edu 37 3 46497363 46497363 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:46497363G>A uc003cpq.3 - 3 663 c.422C>T c.(421-423)aCc>aTc p.T141I LTF_uc003fzr.3_Missense_Mutation_p.T97I|LTF_uc010hjh.3_Missense_Mutation_p.T141I|LTF_uc003cpr.3_Missense_Mutation_p.T128I NM_002343 NP_001186078 P02788 TRFL_HUMAN Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. 141 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CCATCCAGCGGTCCTGCGAAG 0.552000 22 13 0 0 0.002450 0 0 SOX30 11063 broad.mit.edu 37 5 157078245 157078245 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:157078245G>A uc003lxb.1 - 0 1184 c.842C>T c.(841-843)tCa>tTa p.S281L SOX30_uc003lxc.1_Missense_Mutation_p.S281L|SOX30_uc011dds.1_Intron NM_178424 NP_848511 O94993 SOX30_HUMAN Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA. 281 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TATCAGCTCTGAAGGCGGAGC 0.562000 40 19 0 0 0.014323 0 0 MLL2 8085 broad.mit.edu 37 19 36218823 36218823 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:36218823C>T uc021usv.1 + 17 4434 c.4434C>T c.(4432-4434)caC>caT p.H1478H MLL2_uc021usu.1_Silent_p.H292H NM_014727 NP_055542 O14686 MLL2_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA. 0 Cys-rich. 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 TCATGCGGCACTCGGAGGAGG 0.627000 """N, F, Mis""" """medulloblastoma, renal""" HNSCC(34;0.089) 11 5 0 0 0.001168 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77369756 77369756 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:77369756G>A uc002ffc.4 - 11 2175 c.1756C>T c.(1756-1758)Cgg>Tgg p.R586W ADAMTS18_uc010chc.1_Missense_Mutation_p.R174W|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R282W NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 586 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 TGGATGGGCCGGGGCCCGAGC 0.587000 74 19 0 0 0.003954 0 0 FGF1 2246 broad.mit.edu 37 5 141993542 141993542 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:141993542C>T uc003lmm.3 - 1 231 c.151G>A c.(151-153)Gac>Aac p.D51N FGF1_uc011dbi.2_Missense_Mutation_p.D51N|FGF1_uc003lmn.4_Missense_Mutation_p.D51N|FGF1_uc003lmp.4_Missense_Mutation_p.D51N|FGF1_uc003lmq.3_Missense_Mutation_p.D51N|FGF1_uc010jgj.3_Missense_Mutation_p.D51N|FGF1_uc003lmr.3_Missense_Mutation_p.D51N|FGF1_uc003lms.4_Missense_Mutation_p.D51N|FGF1_uc021yew.1_Missense_Mutation_p.D51N NM_001144892 NP_001138407 P05230 FGF1_HUMAN Homo sapiens fibroblast growth factor 1 (acidic) (FGF1), transcript variant 4, mRNA. 51 angiogenesis|cellular response to heat|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cell migration|positive regulation of cholesterol biosynthetic process|positive regulation of intracellular protein kinase cascade|positive regulation of transcription from RNA polymerase II promoter cell cortex|cytosol|extracellular space S100 alpha binding|fibroblast growth factor receptor binding|growth factor activity|heparin binding large_intestine(1)|lung(2) 3 all_neural(839;0.0416)|Ovarian(839;0.0955)|all_hematologic(541;0.1)|Prostate(461;0.157)|Lung NSC(810;0.21) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00032) Pentosan Polysulfate(DB00686) TCGCTCCTGTCCCTTGTCCCA 0.542000 14 10 0 0 0.010729 0 0 PREX2 80243 broad.mit.edu 37 8 69046488 69046488 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:69046488C>T uc003xxv.1 + 31 3988 c.3961C>T c.(3961-3963)Cag>Tag p.Q1321* NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1321 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding p.Q1321*(2) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTTTCACTTTCAGTCACTTCT 0.438000 45 19 0 0 0.007413 0 0 NFIX 4784 broad.mit.edu 37 19 13135903 13135903 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:13135903C>T uc010xmx.2 + 1 173 c.120C>T c.(118-120)aaC>aaT p.N40N NFIX_uc002mwd.3_Silent_p.N32N|NFIX_uc002mwe.3_Silent_p.N24N|NFIX_uc002mwf.3_Silent_p.N35N|NFIX_uc002mwg.2_Silent_p.N31N Q14938 NFIX_HUMAN Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA. 32 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) CCTGGTTCAACCTGCAGGCGC 0.632000 10 5 0 0 0.000602 0 0 FAM124B 79843 broad.mit.edu 37 2 225266082 225266082 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:225266082G>A uc002vnx.3 - 0 630 c.404C>T c.(403-405)tCc>tTc p.S135F FAM124B_uc002vnw.3_Missense_Mutation_p.S135F NM_001122779 NP_001116251 Q9H5Z6 F124B_HUMAN Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA. 135 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) CAGGATCTCGGAGCCACAGTG 0.537000 26 20 0 0 0.012319 0 0 SOX6 55553 broad.mit.edu 37 11 16119235 16119235 + Splice_Site SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:16119235C>T uc001mme.3 - 8 971 c.938_splice c.e8-1 p.G313_splice SOX6_uc001mmd.3_Splice_Site_p.G303_splice|SOX6_uc001mmf.3_Splice_Site_p.G300_splice|SOX6_uc001mmg.3_Splice_Site_p.G300_splice NM_001145819 NP_001139291 P35712 SOX6_HUMAN Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA. 300 Poly-Ala. muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 TAGTTATCACCTGTCGGAAAG 0.458000 26 19 0 0 0.010504 0 0 GLP2R 9340 broad.mit.edu 37 17 9783724 9783724 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:9783724C>T uc002gmd.1 + 10 1175 c.1175C>T c.(1174-1176)cCt>cTt p.P392L NM_004246 NP_004237 O95838 GLP2R_HUMAN Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA. 392 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) GTCCTCATTCCTTTATTGGGC 0.413000 71 65 0 0 0.014410 0 0 RGS7 6000 broad.mit.edu 37 1 240975334 240975334 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:240975334C>T uc001hyt.2 - 6 516 c.462G>A c.(460-462)ccG>ccA p.P154P RGS7_uc010pyh.2_Silent_p.P296P|RGS7_uc010pyj.1_Silent_p.P238P|RGS7_uc001hyu.2_Silent_p.P322P|RGS7_uc009xgn.1_Silent_p.P269P|RGS7_uc001hyv.2_Silent_p.P322P|RGS7_uc001hyw.2_Silent_p.P322P NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 322 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TCTGCTGGCTCGGTTCTTTGC 0.393000 38 18 0 0 0.008871 0 0 PCLO 27445 broad.mit.edu 37 7 82583366 82583366 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:82583366C>T uc003uhx.2 - 4 7192 c.6903G>A c.(6901-6903)gtG>gtA p.V2301V PCLO_uc003uhv.2_Silent_p.V2301V|PCLO_uc010lec.3_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 2232 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 TGGCTTTCTTCACTGGGTCCT 0.408000 131 22 0 0 0.002780 0 0 CHST4 10164 broad.mit.edu 37 16 71570949 71570949 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:71570949C>T uc021tkt.1 + 0 369 c.369C>T c.(367-369)ctC>ctT p.L123L CHST4_uc002fan.3_Silent_p.L123L|CHST4_uc002fao.3_Silent_p.L123L NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA. 123 N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 AGTCCAGCCTCTTTCAGTGGG 0.582000 38 6 0 0 0.004482 0 0 PHACTR2 9749 broad.mit.edu 37 6 144081548 144081548 + Missense_Mutation SNP A C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:144081548A>C uc010khi.3 + 4 664 c.465A>C c.(463-465)gaA>gaC p.E155D PHACTR2_uc003qjq.4_Missense_Mutation_p.E144D|PHACTR2_uc010khh.3_Intron|PHACTR2_uc003qjr.4_Intron NM_001100164 NP_001093634 O75167 PHAR2_HUMAN Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA. 144 actin binding|protein phosphatase inhibitor activity NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) AGAACACTGAAAACCACTCTG 0.463000 4 5 0 0 0.000602 0 0 RIMS2 9699 broad.mit.edu 37 8 104898127 104898127 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:104898127C>T uc003yls.3 + 1 875 c.634C>T c.(634-636)Cct>Tct p.P212S RIMS2_uc003ylp.3_Missense_Mutation_p.P434S|RIMS2_uc003ylw.2_Missense_Mutation_p.P242S|RIMS2_uc003ylq.3_Missense_Mutation_p.P242S|RIMS2_uc003ylr.3_Missense_Mutation_p.P242S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA. 465 intracellular protein transport cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) CCATAGTCCTCCTACCCCCAG 0.488000 HNSCC(12;0.0054) 33 25 0 0 0.002780 0 0 ATIC 471 broad.mit.edu 37 2 216213859 216213859 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:216213859C>T uc002vex.4 + 14 1733 c.1546C>T c.(1546-1548)Cct>Tct p.P516S ATIC_uc010zjo.2_Missense_Mutation_p.P457S|ATIC_uc002vey.4_Missense_Mutation_p.P515S NM_004044 NP_004035 P31939 PUR9_HUMAN Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA. 516 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) TGAGGAAGTCCCTGAGTTACT 0.448000 T ALK ALCL 47 43 0 0 0.014410 0 0 FZD1 8321 broad.mit.edu 37 7 90896063 90896063 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:90896063C>T uc003ula.3 + 0 2281 c.1868C>T c.(1867-1869)tCc>tTc p.S623F NM_003505 NP_003496 Q9UP38 FZD1_HUMAN Homo sapiens frizzled family receptor 1 (FZD1), mRNA. 623 G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215) STAD - Stomach adenocarcinoma(171;0.0134) TGGATCTGGTCCGGCAAGACC 0.597000 21 18 0 0 0.007413 0 0 OR7D4 125958 broad.mit.edu 37 19 9325290 9325290 + Missense_Mutation SNP G A A rs5020281 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:9325290G>A uc002mla.2 - 0 258 c.224C>T c.(223-225)tCc>tTc p.S75F NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA. 75 S -> C (in dbSNP:rs5020281). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 GACTGTGGTGGAGATGAAACA 0.502000 34 17 0 0 0.004990 0 0 PSMA2 5683 broad.mit.edu 37 7 42966224 42966224 + Silent SNP G A A rs150444926 byFrequency TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:42966224G>A uc003thy.3 - 2 210 c.162C>T c.(160-162)tcC>tcT p.S54S C7orf25_uc010kxr.3_Intron|PSMA2_uc003thz.1_5'UTR NM_002787 NP_002778 P25787 PSA2_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 2 (PSMA2), mRNA. 54 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2) 10 CATACAGAATGGATTTCTGTT 0.358000 27 11 0 0 0.010729 0 0 OR2B3 442184 broad.mit.edu 37 6 29055016 29055016 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:29055016C>T uc003nlx.3 - 0 75 c.10G>A c.(10-12)Gaa>Aaa p.E4K NM_001005226 NP_001005226 Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA. p.E4*(2) breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 CTCTCATTTTCCCAATTCATG 0.363000 24 4 0 0 0.009096 0 0 CACNA1S 779 broad.mit.edu 37 1 201052399 201052399 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:201052399G>A uc001gvv.3 - 9 1511 c.1284C>T c.(1282-1284)atC>atT p.I428I NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 428 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) TGGACTTCACGATGTCATGGC 0.562000 44 31 0 0 0.013726 0 0 FASLG 356 broad.mit.edu 37 1 172634971 172634971 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:172634971G>A uc001gis.3 + 3 818 c.661G>A c.(661-663)Gat>Aat p.D221N FASLG_uc001git.3_3'UTR NM_000639 NP_000630 P48023 TNFL6_HUMAN Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA. 221 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1) 19 GTATCCCCAGGATCTGGTGAT 0.517000 67 24 0 0 0.007291 0 0 TMEM117 84216 broad.mit.edu 37 12 44781983 44781983 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:44781983C>T uc001rod.3 + 7 1139 c.1073C>T c.(1072-1074)tCc>tTc p.S358F TMEM117_uc001roe.3_Missense_Mutation_p.S254F|TMEM117_uc009zkc.3_3'UTR NM_032256 NP_115632 Q9H0C3 TM117_HUMAN Homo sapiens transmembrane protein 117 (TMEM117), mRNA. 358 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) ACCAAGCTATCCTGGGAATGG 0.413000 34 36 0 0 0.003755 0 0 ZFHX3 463 broad.mit.edu 37 16 72821201 72821201 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:72821201G>A uc002fck.3 - 9 11647 c.10974C>T c.(10972-10974)gaC>gaT p.D3658D AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.D2744D NM_006885 NP_008816 Q15911 ZFHX3_HUMAN Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA. 3658 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CCGAATAGTCGTCTGTTGGCA 0.597000 47 45 0 0 0.010771 0 0 DEFA1 1667 broad.mit.edu 37 8 6873538 6873538 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:6873538C>T uc003wqz.1 - 2 351 c.259G>A c.(259-261)Gga>Aga p.G87R NM_004084 NP_005208 P59665 DEF1_HUMAN Homo sapiens defensin, alpha 1 (DEFA1), mRNA. 87 chemotaxis|defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism|response to virus extracellular space COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118) CAGAGTCTTCCCTGGTAGATG 0.473000 45 23 0 0 0.005443 0 0 OR52D1 390066 broad.mit.edu 37 11 5510551 5510551 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:5510551G>A uc010qzg.2 + 0 637 c.615G>A c.(613-615)gtG>gtA p.V205V HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 205 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T204N(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCTAACTGTGGCTCTGCTGG 0.498000 74 51 0 0 0.014410 0 0 SCG3 29106 broad.mit.edu 37 15 51981460 51981460 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:51981460G>A uc002abh.3 + 5 988 c.585G>A c.(583-585)gaG>gaA p.E195E SCG3_uc010ufz.2_5'UTR NM_013243 NP_001158729 Q8WXD2 SCG3_HUMAN Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA. 195 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) AAGTAGCAGAGGTTTTACAAA 0.373000 17 13 0 0 0.002450 0 0 ZNF573 126231 broad.mit.edu 37 19 38230580 38230580 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:38230580C>T uc002ohe.3 - 4 880 c.811G>A c.(811-813)Gaa>Aaa p.E271K ZNF573_uc010efs.2_Missense_Mutation_p.E184K|ZNF573_uc002ohd.3_Missense_Mutation_p.E269K|ZNF573_uc002ohf.3_Missense_Mutation_p.E213K|ZNF573_uc002ohg.3_Missense_Mutation_p.E183K|ZNF573_uc021utv.1_Missense_Mutation_p.E183K NM_001172690 NP_001166161 Q86YE8 ZN573_HUMAN Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA. 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) TATGGTTTTTCGCCAGTATGA 0.428000 44 27 0 0 0.006320 0 0 GLIPR1 11010 broad.mit.edu 37 12 75874745 75874745 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:75874745G>A uc001sxs.3 + 0 233 c.85G>A c.(85-87)Gaa>Aaa p.E29K GLIPR1_uc009zsb.1_Missense_Mutation_p.E29K NM_006851 NP_006842 P48060 GLIP1_HUMAN Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA. 29 cellular lipid metabolic process extracellular region|integral to membrane p.E29K(2) endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 14 GCCAGATATCGAAAATGAAGA 0.403000 31 13 0 0 0.013537 0 0 MUC16 94025 broad.mit.edu 37 19 9062685 9062685 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:9062685C>T uc002mkp.3 - 2 24965 c.24761G>A c.(24760-24762)tGg>tAg p.W8254* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8256 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 TTGACTAGGCCATAACATATC 0.502000 24 14 0 0 0.003163 0 0 CNTRL 11064 broad.mit.edu 37 9 123904444 123904444 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:123904444C>T uc004bkx.1 + 16 2798 c.2767C>T c.(2767-2769)Cta>Tta p.L923L CNTRL_uc004bky.1_Silent_p.L527L|CNTRL_uc004bla.1_Silent_p.L371L|CNTRL_uc010mvo.1_5'Flank NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN Homo sapiens centriolin (CNTRL), mRNA. 923 G2/M transition of mitotic cell cycle|cell division centrosome|cytosol protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3) 20 GCAAGAAAATCTAAAAAGTAT 0.378000 21 18 0 0 0.007413 0 0 IL20RB 53833 broad.mit.edu 37 3 136701038 136701038 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:136701038C>T uc003eri.2 + 2 501 c.252C>T c.(250-252)atC>atT p.I84I IL20RB_uc003erj.2_Non-coding_Transcript|IL20RB_uc010hud.2_5'UTR NM_144717 NP_653318 Q6UXL0 I20RB_HUMAN Homo sapiens interleukin 20 receptor beta (IL20RB), mRNA. 84 Fibronectin type-III 1. integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 ACATCTGGATCCCCAGCAGCT 0.557000 20 9 0 0 0.001855 0 0 ATP1A3 478 broad.mit.edu 37 19 42485885 42485885 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:42485885G>A uc002osh.3 - 9 1445 c.1291C>T c.(1291-1293)Cct>Tct p.P431S ATP1A3_uc010xwf.2_Missense_Mutation_p.P442S|ATP1A3_uc010xwg.2_Missense_Mutation_p.P401S|ATP1A3_uc002osg.3_Missense_Mutation_p.P431S|ATP1A3_uc010xwh.2_Missense_Mutation_p.P444S P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 431 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity p.P431T(2) NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TTGAGCACAGGGATGTTGTCC 0.592000 21 6 0 0 0.001984 0 0 ARHGAP39 80728 broad.mit.edu 37 8 145770733 145770733 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:145770733G>A uc003zds.1 - 6 2976 c.2421C>T c.(2419-2421)ctC>ctT p.L807L ARHGAP39_uc011llk.1_Silent_p.L807L|ARHGAP39_uc003zdt.1_Silent_p.L807L NM_025251 NP_079527 Q9C0H5 RHG39_HUMAN Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA. 807 MyTH4. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|nucleus GTPase activator activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 AGATGGCCATGAGCTCCCAGC 0.637000 24 15 0 0 0.003163 0 0 PCDH15 65217 broad.mit.edu 37 10 55591165 55591165 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:55591165C>T uc010qhy.1 - 30 4522 c.4127G>A c.(4126-4128)gGa>gAa p.G1376E PCDH15_uc010qhq.2_Missense_Mutation_p.G1376E|PCDH15_uc010qhr.2_Missense_Mutation_p.G1371E|PCDH15_uc021pqv.1_Missense_Mutation_p.G1371E|PCDH15_uc021pqw.1_Missense_Mutation_p.G1383E|PCDH15_uc010qht.2_Missense_Mutation_p.G1378E|PCDH15_uc021pqx.1_Missense_Mutation_p.G1371E|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.G1371E|PCDH15_uc021pqz.1_Missense_Mutation_p.G1349E|PCDH15_uc010qhv.1_Missense_Mutation_p.G1371E|PCDH15_uc010qhw.1_Missense_Mutation_p.G1334E|PCDH15_uc010qhx.1_Missense_Mutation_p.G1300E|PCDH15_uc010qhz.1_Missense_Mutation_p.G1371E|PCDH15_uc010qia.1_Missense_Mutation_p.G1349E|PCDH15_uc001jju.1_Missense_Mutation_p.G1371E|PCDH15_uc010qib.1_Missense_Mutation_p.G1349E NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1371 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTCTGTGTATCCTAGACTTTC 0.483000 HNSCC(58;0.16) 21 44 0 0 0.009718 0 0 GLG1 2734 broad.mit.edu 37 16 74524922 74524922 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:74524922G>A uc002fcx.3 - 7 1476 c.1426C>T c.(1426-1428)Ctt>Ttt p.L476F GLG1_uc002fcw.4_Missense_Mutation_p.L465F|GLG1_uc002fcy.4_Missense_Mutation_p.L476F|GLG1_uc002fcz.4_Intron NM_012201 NP_036333 Q92896 GSLG1_HUMAN Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA. 476 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 TTCATTCCAAGGTTCCCCTTC 0.498000 48 12 0 0 0.002450 0 0 PPP1R1C 151242 broad.mit.edu 37 2 182850861 182850861 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:182850861G>A uc010frm.1 + 0 311 c.24G>A c.(22-24)aaG>aaA p.K8K PPP1R1C_uc002uoo.3_Silent_p.K8K|PPP1R1C_uc002uop.1_Silent_p.K8K|PPP1R1C_uc010frn.1_Non-coding_Transcript NM_001080545 NP_001074014 Q8WVI7 PPR1C_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1C (PPP1R1C), mRNA. 8 signal transduction cytoplasm protein phosphatase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(2) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0628) GTCCCAAAAAGATACAGTTTG 0.448000 68 36 0 0 0.011902 0 0 AGK 55750 broad.mit.edu 37 7 141341053 141341053 + Nonsense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:141341053G>A uc003vwi.2 + 11 903 c.732G>A c.(730-732)tgG>tgA p.W244* AGK_uc011krg.1_Intron NM_018238 NP_060708 Q53H12 AGK_HUMAN Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA. 244 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway mitochondrial membrane ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3) 17 Melanoma(164;0.0171) AAAAGGAGTGGCCTCAGACTC 0.433000 20 29 0 0 0.003755 0 0 MTL5 9633 broad.mit.edu 37 11 68478403 68478403 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:68478403C>T uc001ooc.3 - 8 1413 c.1273G>A c.(1273-1275)Gaa>Aaa p.E425K NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA. 425 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TGGCTGCCTTCCAAACCTCCA 0.418000 19 19 0 0 0.008871 0 0 PDZRN4 29951 broad.mit.edu 37 12 41967660 41967660 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:41967660C>T uc010skn.2 + 9 3087 c.3079C>T c.(3079-3081)Cat>Tat p.H1027Y PDZRN4_uc001rmq.4_Missense_Mutation_p.H769Y|PDZRN4_uc009zjz.3_Missense_Mutation_p.H767Y|PDZRN4_uc001rmr.3_Missense_Mutation_p.H654Y NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 1027 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) CACGAGAGTCCATAATGCCTT 0.443000 36 5 0 0 0.000602 0 0 GPR158 57512 broad.mit.edu 37 10 25886856 25886856 + Silent SNP G C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:25886856G>C uc001isj.3 + 10 2361 c.2301G>C c.(2299-2301)cgG>cgC p.R767R GPR158_uc001isk.3_Silent_p.R142R NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 767 integral to membrane|plasma membrane G-protein coupled receptor activity p.R767L(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CAGTCAGCCGGCAGTGCTCTA 0.572000 15 39 0 0 0.004878 0 0 OR5R1 219479 broad.mit.edu 37 11 56185123 56185123 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:56185123C>T uc010rji.2 - 0 586 c.586G>A c.(586-588)Gaa>Aaa p.E196K OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E196K(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) ATCAGAATTTCCTTCATGTGT 0.433000 23 26 0 0 0.003330 0 0 TOM1L1 10040 broad.mit.edu 37 17 53014064 53014064 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:53014064C>T uc002iud.2 + 8 1084 c.909C>T c.(907-909)gcC>gcT p.A303A TOM1L1_uc002iuc.3_Silent_p.A303A|TOM1L1_uc010dca.1_Silent_p.A303A|TOM1L1_uc010wnb.1_Silent_p.A296A|TOM1L1_uc010wnc.1_Silent_p.A226A|TOM1L1_uc010dbz.2_Silent_p.A226A|TOM1L1_uc010wnd.1_Silent_p.A191A|TOM1L1_uc010dcb.1_Non-coding_Transcript NM_005486 NP_005477 O75674 TM1L1_HUMAN Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA. 303 intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway Golgi stack|cytosol|endosome membrane|lysosome SH3 domain binding|ubiquitin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 15 AGAAGGAAGCCACCAATGTAA 0.303000 37 5 0 0 0.000602 0 0 JAG2 3714 broad.mit.edu 37 14 105609037 105609037 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:105609037C>T uc001yqg.3 - 25 4116 c.3712G>A c.(3712-3714)Gag>Aag p.E1238K JAG2_uc001yqf.3_Missense_Mutation_p.E642K|JAG2_uc001yqh.3_Missense_Mutation_p.E1200K NM_002226 NP_002217 Q9Y219 JAG2_HUMAN Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA. 1238 Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane Notch binding|calcium ion binding|growth factor activity breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CGCCCCTACTCCTTGCCGGCG 0.706000 4 3 0 0 0.009096 0 0 BCKDHA 593 broad.mit.edu 37 19 41925134 41925134 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:41925134C>T uc002oqq.3 + 4 618 c.579C>T c.(577-579)gtC>gtT p.V193V BCKDHA_uc002oqm.4_Silent_p.V227V|BCKDHA_uc002oqp.2_Silent_p.V85V|BCKDHA_uc002oqr.3_Silent_p.V193V|BCKDHA_uc010xvz.2_Silent_p.V171V 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. 193 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 central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 AGATGCCTGTCCACTACGGCT 0.572000 13 10 0 0 0.006214 0 0 BCAM 4059 broad.mit.edu 37 19 45322970 45322970 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:45322970G>A uc002ozu.3 + 12 1794 c.1750G>A c.(1750-1752)Gag>Aag p.E584K BCAM_uc002ozt.1_Missense_Mutation_p.E584K NM_005581 NP_005572 P50895 BCAM_HUMAN Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA. 584 cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CCAGCGGCGGGAGAAGGGGGC 0.632000 46 22 0 0 0.004656 0 0 PHF13 148479 broad.mit.edu 37 1 6680321 6680321 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:6680321C>T uc001aob.4 + 2 971 c.600C>T c.(598-600)atC>atT p.I200I NM_153812 NP_722519 Q86YI8 PHF13_HUMAN Homo sapiens PHD finger protein 13 (PHF13), mRNA. 200 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) AACGGACTATCGTCCGGCAGG 0.537000 31 14 0 0 0.001855 0 0 PTGFR 5737 broad.mit.edu 37 1 78958951 78958951 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:78958951C>T uc001din.3 + 1 789 c.523C>T c.(523-525)Cga>Tga p.R175* PTGFR_uc001dim.3_Nonsense_Mutation_p.R175* NM_000959 NP_000950 P43088 PF2R_HUMAN Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA. 175 parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 33 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CCTTGGACATCGAGACTATAA 0.373000 77 64 0 0 0.014410 0 0 ZAN 7455 broad.mit.edu 37 7 100350705 100350705 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:100350705C>T uc003uwj.3 + 13 3142 c.2977C>T c.(2977-2979)Ccc>Tcc p.P993S ZAN_uc003uwk.3_Missense_Mutation_p.P993S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript NM_003386 NP_003377 Q9Y493 ZAN_HUMAN Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA. 993 66 X heptapeptide repeats (approximate) (mucin-like domain). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCCACCATTCCCACAGAGAA 0.562000 31 38 0 0 0.006230 0 0 CEP250 11190 broad.mit.edu 37 20 34091156 34091156 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:34091156C>T uc021wco.1 + 29 5606 c.4959C>T c.(4957-4959)ctC>ctT p.L1653L CEP250_uc010zve.2_Silent_p.L1021L NM_007186 NP_009117 Q9BV73 CP250_HUMAN Homo sapiens centrosomal protein 250kDa (CEP250), mRNA. 1653 Gln/Glu-rich. G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CTCAGGATCTCGAGAGGAGAG 0.567000 77 41 0 0 0.009718 0 0 UBE3C 9690 broad.mit.edu 37 7 156967649 156967649 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:156967649C>T uc010lqs.3 + 4 691 c.379C>T c.(379-381)Ctg>Ttg p.L127L UBE3C_uc003wnf.2_Silent_p.L84L|UBE3C_uc003wng.2_Silent_p.L127L NM_014671 NP_055486 Q15386 UBE3C_HUMAN Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA. 127 protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity p.L127M(2) central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1) 63 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) ACACAGCTCTCTGTTTGTCAA 0.318000 67 16 0 0 0.004007 0 0 DUSP18 150290 broad.mit.edu 37 22 31059833 31059833 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr22:31059833G>A uc003aiu.3 - 1 659 c.158C>T c.(157-159)tCa>tTa p.S53L SLC35E4_uc003ait.3_Intron|DUSP18_uc010gwa.2_Non-coding_Transcript|DUSP18_uc003aiw.1_Missense_Mutation_p.S53L|DUSP18_uc021wnv.1_Missense_Mutation_p.S53L NM_152511 NP_689724 Q8NEJ0 DUS18_HUMAN Homo sapiens dual specificity phosphatase 18 (DUSP18), mRNA. 53 cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity large_intestine(1)|lung(1)|prostate(1)|skin(1) 4 TACCTCCACTGAGACATTGAT 0.483000 27 105 0 0 0.014410 0 0 BC040576 0 broad.mit.edu 37 22 25679005 25679005 + RNA SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr22:25679005C>T uc003abq.1 - 0 c.57G>A Homo sapiens cDNA clone IMAGE:5267701. GCAAGAGGACCGTCCTGCCCG 0.721000 3 5 0 0 0.001168 0 0 GALNT14 79623 broad.mit.edu 37 2 31178493 31178493 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:31178493C>T uc002rns.3 - 6 1300 c.660G>A c.(658-660)agG>agA p.R220R GALNT14_uc002rnq.3_Silent_p.R195R|GALNT14_uc010ymr.2_Silent_p.R180R|GALNT14_uc002rnr.3_Silent_p.R215R|GALNT14_uc010ezo.2_Silent_p.R182R|GALNT14_uc010ezp.1_Silent_p.R186R NM_001253826 NP_001240755 Q96FL9 GLT14_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA. 215 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) CCTCTTTGACCCTGTGCAACA 0.612000 34 14 0 0 0.004007 0 0 FLG 2312 broad.mit.edu 37 1 152283067 152283067 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:152283067C>T uc001ezu.1 - 2 4331 c.4295G>A c.(4294-4296)gGg>gAg p.G1432E AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1432 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGAGCTTTCCCCTGACTGGCC 0.567000 Ichthyosis 89 66 0 0 0.014410 0 0 AKAP9 10142 broad.mit.edu 37 7 91713966 91713966 + Missense_Mutation SNP C T T rs146689921 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:91713966C>T uc003ulg.3 + 33 8884 c.8659C>T c.(8659-8661)Cct>Tct p.P2887S AKAP9_uc003ulf.3_Missense_Mutation_p.P2879S|AKAP9_uc003uli.3_Missense_Mutation_p.P2510S|AKAP9_uc003ulj.3_Missense_Mutation_p.P657S|AKAP9_uc003ulk.3_Missense_Mutation_p.P162S NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 2899 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding p.V2886V(1) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ATCCTCAATTCCTGAGCTAGC 0.299000 T BRAF papillary thyroid 60 12 0 0 0.013537 0 0 ACAN 176 broad.mit.edu 37 15 89398549 89398549 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:89398549C>T uc010upo.1 + 11 3107 c.2733C>T c.(2731-2733)ggC>ggT p.G911G ACAN_uc010upp.1_Silent_p.G911G|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 911 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGGGCTCAGGCCTGCCTGTGG 0.582000 7 15 0 0 0.002450 0 0 PRAMEF18 391003 broad.mit.edu 37 1 13695858 13695858 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:13695858G>A uc009vny.1 - 2 1154 c.1107C>T c.(1105-1107)atC>atT p.I369I NM_001099850 NP_001093260 Q5VWM3 PRA18_HUMAN Homo sapiens PRAME family member 18 (PRAMEF18), mRNA. 369 lung(2)|ovary(1) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGGCAGGCAGGATGACCCTGA 0.567000 112 100 0 0 0.014410 0 0 PREP 5550 broad.mit.edu 37 6 105730374 105730374 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:105730374G>A uc003prc.3 - 12 1866 c.1633C>T c.(1633-1635)Ccc>Tcc p.P545S NM_002726 NP_002717 P48147 PPCE_HUMAN Homo sapiens prolyl endopeptidase (PREP), mRNA. 545 proteolysis serine-type endopeptidase activity p.P545L(1) breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) AGCCTCTTGGGAGATGTGTAA 0.438000 66 33 0 0 0.013726 0 0 PLB1 151056 broad.mit.edu 37 2 28719005 28719005 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:28719005C>T uc002rmb.2 + 0 68 c.24C>T c.(22-24)ttC>ttT p.F8F PLB1_uc010ezj.2_Silent_p.F8F NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 8 lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CAGGCATTTTCCTCCTGGAGC 0.597000 44 23 0 0 0.005443 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834043 125834043 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:125834043C>T uc001uhe.1 + 1 106 c.98C>T c.(97-99)tCg>tTg p.S33L TMEM132B_uc021rgl.1_5'UTR NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 33 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) AAGTTTTCCTCGCTCCCTGCT 0.463000 80 32 0 0 0.003755 0 0 OR7E24 26648 broad.mit.edu 37 19 9362280 9362280 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:9362280C>T uc002mlb.1 + 0 561 c.561C>T c.(559-561)ttC>ttT p.F187F NM_001079935 NP_001073404 Q6IFN5 O7E24_HUMAN Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA. 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 TCACCTGCTTCAAGGATGTGG 0.408000 27 11 0 0 0.008291 0 0 COL27A1 85301 broad.mit.edu 37 9 116931602 116931602 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:116931602C>T uc011lxl.2 + 2 1767 c.1767C>T c.(1765-1767)gcC>gcT p.A589A COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Silent_p.A439A NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 589 Pro-rich. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CCACCCCGGCCCTGGTATTGG 0.652000 35 15 0 0 0.004990 0 0 TLE1 7088 broad.mit.edu 37 9 84225190 84225190 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:84225190G>A uc004alz.3 - 13 1747 c.1306C>T c.(1306-1308)Cac>Tac p.H436Y TLE1_uc004aly.3_Missense_Mutation_p.H426Y|TLE1_uc011lsr.2_Missense_Mutation_p.H411Y|TLE1_uc004ama.1_Missense_Mutation_p.H425Y NM_005077 NP_005068 Q04724 TLE1_HUMAN Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA. 426 Pro/Ser-rich. Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent transcription factor binding NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 29 ACTCTCATGTGAGGGGGAGGA 0.448000 23 19 0 0 0.008871 0 0 CACNA1A 773 broad.mit.edu 37 19 13340940 13340940 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:13340940C>T uc002mwy.3 - 35 5720 c.5484G>A c.(5482-5484)ctG>ctA p.L1828L CACNA1A_uc002mwx.3_Silent_p.L534L|CACNA1A_uc010dzc.2_Silent_p.L1354L|CACNA1A_uc010xnd.2_Silent_p.L1831L|CACNA1A_uc021ups.1_Silent_p.L1828L|CACNA1A_uc010xne.2_Silent_p.L1831L|CACNA1A_uc010dze.2_Silent_p.L1828L|CACNA1A_uc021upt.1_Silent_p.L1829L|CACNA1A_uc002mwv.3_Silent_p.L345L NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 1829 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CGTACTCATCCAGGTGGTGGG 0.587000 13 11 0 0 0.013537 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 112440 112440 + Splice_Site SNP A C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrGL000209.1:112440A>C uc002qtt.2 + 8 903 c.874_splice c.e8-1 p.D292_splice KIR2DL2_uc021vdc.1_5'Flank|KIR2DL2_uc021vdd.1_5'Flank|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Splice_Site_p.D292_splice|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Splice_Site_p.D292_splice|KIR2DL2_uc002qum.3_5'Flank NM_012313 NP_036445 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 (KIR2DS3), mRNA. 291 regulation of immune response integral to membrane|plasma membrane receptor activity TCTCTCCAGGATTCTGATGAA 0.507000 200 26 0 0 0.010818 0 0 COL27A1 85301 broad.mit.edu 37 9 117072864 117072864 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:117072864C>T uc011lxl.2 + 60 5472 c.5472C>T c.(5470-5472)acC>acT p.T1824T COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Silent_p.T139T NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 1824 Fibrillar collagen NC1. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CACTCTTCACCTTCCGGACCC 0.537000 30 18 0 0 0.006122 0 0 ZBP1 81030 broad.mit.edu 37 20 56185226 56185226 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:56185226C>T uc002xyo.3 - 6 1353 c.1072G>A c.(1072-1074)Ggg>Agg p.G358R ZBP1_uc010gjm.3_Missense_Mutation_p.G357R|ZBP1_uc002xyp.3_Missense_Mutation_p.G283R NM_030776 NP_110403 Q9H171 ZBP1_HUMAN Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA. 358 cytoplasm|nucleus RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 27 Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08) CCTGGCTCCCCCTCTCCAGAC 0.587000 64 19 0 0 0.008871 0 0 DRD2 1813 broad.mit.edu 37 11 113295249 113295249 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:113295249G>A uc001pnz.3 - 0 446 c.125C>T c.(124-126)aCc>aTc p.T42I DRD2_uc010rwv.2_Missense_Mutation_p.T42I|DRD2_uc001poa.4_Missense_Mutation_p.T42I|DRD2_uc001pob.4_Missense_Mutation_p.T42I|DRD2_uc009yyr.1_Missense_Mutation_p.T42I NM_000795 NP_000786 P14416 DRD2_HUMAN Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA. 42 activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GATGAGCAGGGTGAGCAGTGT 0.587000 46 26 0 0 0.004656 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563504 140563504 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:140563504C>T uc003liv.3 + 0 2525 c.1370C>T c.(1369-1371)aCc>aTc p.T457I NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN Homo sapiens protocadherin beta 16 (PCDHB16), mRNA. 457 Cadherin 5. 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) ACCTCCTACACCCTGTTCGTC 0.562000 40 32 0 0 0.003755 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140779095 140779095 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:140779095C>T uc003lkf.2 + 0 1401 c.1401C>T c.(1399-1401)atC>atT p.I467I PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.I467I NM_018925 NP_061748 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA. 473 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCCTCCATCGCGCAAGTCT 0.567000 8 19 0 0 0.012319 0 0 C1GALT1C1 29071 broad.mit.edu 37 X 119760911 119760911 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:119760911G>A uc022cdo.1 - 0 111 c.111C>T c.(109-111)caC>caT p.H37H C1GALT1C1_uc004esy.3_Silent_p.H37H|C1GALT1C1_uc004esz.3_Silent_p.H37H NM_152692 NP_689905 Q96EU7 C1GLC_HUMAN Homo sapiens C1GALT1-specific chaperone 1 (C1GALT1C1), transcript variant 1, mRNA. 37 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 11 GCTCATGGTGGTGCATTCTAT 0.418000 28 53 0 0 0.014410 0 0 CHI3L2 1117 broad.mit.edu 37 1 111783990 111783990 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:111783990G>A uc001eam.3 + 8 1031 c.960G>A c.(958-960)caG>caA p.Q320Q CHI3L2_uc001ean.3_Silent_p.Q310Q|CHI3L2_uc001eao.3_Silent_p.Q241Q NM_004000 NP_001020370 Q15782 CH3L2_HUMAN Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA. 320 chitin catabolic process extracellular space cation binding|chitinase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1) 19 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) CGCGGCTCCAGGATCAACAGG 0.532000 35 34 0 0 0.013726 0 0 TSGA10 80705 broad.mit.edu 37 2 99695239 99695239 + Missense_Mutation SNP T G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:99695239T>G uc002szg.4 - 9 1393 c.765A>C c.(763-765)gaA>gaC p.E255D TSGA10_uc002szh.4_Missense_Mutation_p.E255D|TSGA10_uc002szi.4_Missense_Mutation_p.E255D|TSGA10_uc010fin.1_Missense_Mutation_p.E255D|TSGA10_uc010yvn.1_Missense_Mutation_p.E255D NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA. 255 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 GAATGCTGATTTCTTCTCGCT 0.338000 46 6 0 0 0.001168 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146825806 146825806 + Missense_Mutation SNP T G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:146825806T>G uc003weu.2 + 6 1477 c.961T>G c.(961-963)Ttc>Gtc p.F321V NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 321 Laminin G-like 1. 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) AGGCATCCCTTTCTCTGGCAA 0.393000 HNSCC(39;0.1) 62 16 0 0 0.004007 0 0 PXT1 222659 broad.mit.edu 37 6 36368262 36368263 + Missense_Mutation DNP CC TT TT TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:36368262_36368263CC>TT uc003omd.2 - 3 752_753 c.268_269GG>AA c.(268-270)ggg>AAg p.G90K NM_152990 NP_694535 Q8NFP0 PXT1_HUMAN Homo sapiens peroxisomal, testis specific 1 (PXT1), mRNA. 7 peroxisome AATGTTGTCCCCAATGTGTCTC 0.485000 82 19 0 0 0.004672 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55045004 55045005 + RNA DNP GG AA AA TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:55045004_55045005GG>AA uc010yfa.1 + 2 c.230_231GG>AA KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA. endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) GGTTCCCCTAGGAGGACGTGTG 0.554000 36 9 0 0 0.004672 0 0 FRYL 285527 broad.mit.edu 37 4 48545867 48545867 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:48545867G>A uc003gyh.1 - 43 6154 c.5549C>T c.(5548-5550)tCc>tTc p.S1850F FRYL_uc003gyg.1_Missense_Mutation_p.S546F|FRYL_uc003gyi.1_Missense_Mutation_p.S738F|FRYL_uc003gyj.1_Missense_Mutation_p.S145F NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 1850 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TACAAGTCTGGAGAGAACATC 0.438000 12 28 0 0 0.005524 0 0 DNAH9 1770 broad.mit.edu 37 17 11520784 11520784 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:11520784G>A uc002gne.3 + 4 1029 c.961G>A c.(961-963)Gaa>Aaa p.E321K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 321 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCGCCACCTGGAAGCTCTGGA 0.577000 18 5 0 0 0.000602 0 0 KIF18A 81930 broad.mit.edu 37 11 28112954 28112954 + Splice_Site SNP A T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:28112954A>T uc001msc.2 - 4 770 c.588_splice c.e4+1 p.Q196_splice NM_031217 NP_112494 Q8NI77 KI18A_HUMAN Homo sapiens kinesin family member 18A (KIF18A), mRNA. 196 Kinesin-motor. blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 36 TTATATACATACCTGGTGTAA 0.388000 69 15 0 0 0.006122 0 0 ABCA8 10351 broad.mit.edu 37 17 66938086 66938086 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:66938086G>A uc002jhq.3 - 2 430 c.90C>T c.(88-90)tcC>tcT p.S30S ABCA8_uc002jhp.3_Silent_p.S30S|ABCA8_uc010wqq.2_Silent_p.S30S|ABCA8_uc010wqr.2_Intron|ABCA8_uc002jhr.3_Silent_p.S30S|ABCA8_uc002jhs.3_Silent_p.S30S|ABCA8_uc002jht.3_Silent_p.S30S NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 30 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) ATACCATTAAGGACTCTCTTT 0.378000 47 22 0 0 0.010504 0 0 FSD1 79187 broad.mit.edu 37 19 4317268 4317268 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:4317268G>A uc002lzy.2 + 7 943 c.790G>A c.(790-792)Gag>Aag p.E264K FSD1_uc002maa.2_Missense_Mutation_p.E77K NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA. 264 Fibronectin type-III. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GGTGACTCTGGAGACACCAGG 0.537000 30 23 0 0 0.003330 0 0 LRP1B 53353 broad.mit.edu 37 2 141081480 141081480 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:141081480G>A uc002tvj.1 - 80 13468 c.12496C>T c.(12496-12498)Cgt>Tgt p.R4166C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 4166 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.R4166C(4) 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) TGTTTATAACGATGAGATATC 0.244000 TSP Lung(27;0.18) 68 27 0 0 0.006320 0 0 SPEF2 79925 broad.mit.edu 37 5 35806838 35806838 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:35806838G>A uc003jjo.3 + 34 5151 c.5040G>A c.(5038-5040)gaG>gaA p.E1680E SPEF2_uc003jjp.1_Silent_p.E1166E|SPEF2_uc003jjr.3_Silent_p.E735E NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 1680 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTCCAGCTGAGGAATTTCCTG 0.393000 49 6 0 0 0.001984 0 0 CETN1 1068 broad.mit.edu 37 18 580847 580847 + Missense_Mutation SNP G A A rs143489830 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr18:580847G>A uc002kko.1 + 0 479 c.439G>A c.(439-441)Gac>Aac p.D147N NM_004066 NP_004057 Q12798 CETN1_HUMAN Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA. 147 EF-hand 4. cell division|mitosis spindle pole ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2) 25 GGAGATGATCGACGAAGCTGA 0.537000 19 27 0 0 0.008361 0 0 DSCAM 1826 broad.mit.edu 37 21 41668072 41668072 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr21:41668072C>T uc002yyq.1 - 9 2544 c.2092G>A c.(2092-2094)Gac>Aac p.D698N 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. 698 Ig-like C2-type 8. 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) CCGTCCTGGTCCCGTGGCTGA 0.433000 24 21 0 0 0.010504 0 0 FBLN1 2192 broad.mit.edu 37 22 45959046 45959046 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr22:45959046C>T uc010gzz.3 + 15 2213 c.2066C>T c.(2065-2067)cCc>cTc p.P689L FBLN1_uc003bgh.3_Missense_Mutation_p.P651L|FBLN1_uc003bgi.1_Intron|FBLN1_uc003bgj.1_Intron NM_001996 NP_001987 P23142 FBLN1_HUMAN Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA. 669 interspecies interaction between organisms extracellular space|soluble fraction calcium ion binding|extracellular matrix structural constituent|protein binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 30 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GTCCCCGAGCCCAGGGACTTG 0.612000 12 53 0 0 0.014410 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140182643 140182644 + Missense_Mutation DNP CC TT TT TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:140182643_140182644CC>TT uc003lhf.2 + 0 1861_1862 c.1861_1862CC>TT c.(1861-1863)ccg>TTg p.P621L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.P621L NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 632 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCGCATCCCGTTTCGCGTG 0.668000 25 8 0 0 0.004672 0 0 SMG7 9887 broad.mit.edu 37 1 183502837 183502837 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:183502837T>C uc001gqg.3 + 9 1283 c.1033T>C c.(1033-1035)Tgt>Cgt p.C345R SMG7_uc010pob.2_Missense_Mutation_p.C374R|SMG7_uc021pga.1_Missense_Mutation_p.C303R|SMG7_uc001gqf.3_Missense_Mutation_p.C345R|SMG7_uc001gqh.3_Missense_Mutation_p.C345R|SMG7_uc010poc.2_Missense_Mutation_p.C303R NM_173156 NP_775179 Q92540 SMG7_HUMAN Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA. 345 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding p.C345Y(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 CCTGTGCAAGTGTCCTCTACA 0.413000 41 17 0 0 0.004990 0 0 ZFAT 57623 broad.mit.edu 37 8 135521977 135521977 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:135521977G>A uc003yup.3 - 14 3563 c.3377C>T c.(3376-3378)cCc>cTc p.P1126L ZFAT_uc011ljj.2_Missense_Mutation_p.P245L|ZFAT_uc003yun.3_Missense_Mutation_p.P1114L|ZFAT_uc003yuo.3_Missense_Mutation_p.P1114L|ZFAT_uc010meh.3_Intron|ZFAT_uc010mej.3_Missense_Mutation_p.P1064L|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.P1114L NM_020863 NP_001161055 Q9P243 ZFAT_HUMAN Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA. 1126 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) CACGGCCGTGGGGTCCAGTCG 0.592000 54 24 0 0 0.005443 0 0 RNPEP 6051 broad.mit.edu 37 1 201970811 201970811 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:201970811C>T uc001gxd.3 + 7 1371 c.1342C>T c.(1342-1344)Cga>Tga p.R448* RNPEP_uc001gxe.3_Nonsense_Mutation_p.R149* NM_020216 NP_064601 Q9H4A4 AMPB_HUMAN Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA. 448 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) ATTCAAATTCCGAAGCATCTT 0.493000 81 67 0 0 0.014410 0 0 ODF2 4957 broad.mit.edu 37 9 131260847 131260847 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:131260847G>A uc004bvc.3 + 18 2446 c.2360G>A c.(2359-2361)aGg>aAg p.R787K ODF2_uc004bvb.3_Missense_Mutation_p.R699K|ODF2_uc011mbd.2_Missense_Mutation_p.R723K|ODF2_uc011mbe.2_Missense_Mutation_p.R718K|ODF2_uc004bvd.4_Missense_Mutation_p.R723K|ODF2_uc004bvh.3_Missense_Mutation_p.R129K NM_153435 NP_702913 Q5BJF6 ODFP2_HUMAN Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA. 723 G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 gaagatgcgaggaggcaggtc 0.527000 9 5 0 0 0.000602 0 0 GNA12 2768 broad.mit.edu 37 7 2771124 2771124 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:2771124G>A uc003smu.3 - 3 1001 c.837C>T c.(835-837)acC>acT p.T279T GNA12_uc011jwb.2_Silent_p.T262T|GNA12_uc003smt.3_Silent_p.T220T NM_007353 NP_031379 Q03113 GNA12_HUMAN Homo sapiens guanine nucleotide binding protein (G protein) alpha 12 (GNA12), mRNA. 279 G-protein signaling, coupled to cAMP nucleotide second messenger|Rho protein signal transduction|platelet activation brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) TGTTGACGATGGTCTCGAAGA 0.537000 37 39 0 0 0.004878 0 0 C2orf40 84417 broad.mit.edu 37 2 106694293 106694293 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:106694293C>T uc010fjf.3 + 3 466 c.358C>T c.(358-360)Caa>Taa p.Q120* NM_032411 NP_115787 Q9H1Z8 AUGN_HUMAN Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA. 120 extracellular region|transport vesicle lung(7)|urinary_tract(1) 8 CGATTACTACCAACGTCACTA 0.453000 42 22 0 0 0.014323 0 0 EPPK1 83481 broad.mit.edu 37 8 144945889 144945889 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:144945889C>T uc003zaa.1 - 0 1546 c.1533G>A c.(1531-1533)tgG>tgA p.W511* NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 511 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) AGAGCAGCTCCCAGAGGGACA 0.652000 9 11 0 0 0.010729 0 0 PLS1 5357 broad.mit.edu 37 3 142405183 142405183 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:142405183G>A uc010huv.3 + 8 1105 c.946G>A c.(946-948)Gga>Aga p.G316R PLS1_uc003euz.3_Missense_Mutation_p.G316R|PLS1_uc003eva.3_Missense_Mutation_p.G316R NM_001145319 NP_002661 Q14651 PLSI_HUMAN Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA. 316 Actin-binding 1.|CH 2. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 TGGGGAAGATGGACCTGCCAT 0.338000 30 29 0 0 0.004878 0 0 CACNB4 785 broad.mit.edu 37 2 152711872 152711872 + Missense_Mutation SNP T G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:152711872T>G uc002tya.3 - 10 954 c.886A>C c.(886-888)Att>Ctt p.I296L CACNB4_uc002txy.3_Missense_Mutation_p.I262L|CACNB4_uc002txz.3_Missense_Mutation_p.I278L|CACNB4_uc010fnz.3_Missense_Mutation_p.I296L NM_000726 NP_000717 O00305 CACB4_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 4 subunit (CACNB4), transcript variant 2, mRNA. 296 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) ATTCTTTCAATTTCACTTTGT 0.333000 21 14 0 0 0.001855 0 0 OR4N5 390437 broad.mit.edu 37 14 20612380 20612380 + Silent SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:20612380T>C uc010tla.2 + 0 486 c.486T>C c.(484-486)ctT>ctC p.L162L NM_001004724 NP_001004724 Q8IXE1 OR4N5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA. 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) AAGTAGCCCTTATCCTGCACT 0.478000 52 23 0 0 0.014323 0 0 CRTC2 200186 broad.mit.edu 37 1 153923935 153923935 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:153923935G>A uc021pab.1 - 10 1364 c.1205C>T c.(1204-1206)tCc>tTc p.S402F CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA. 402 Ser-rich. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding p.S402F(2) NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) ggaggaggaggaagaggagga 0.677000 8 7 0 0 0.001984 0 0 ZFP3 124961 broad.mit.edu 37 17 4994885 4994885 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:4994885C>T uc002gaq.3 + 1 211 c.86C>T c.(85-87)cCa>cTa p.P29L ZFP3_uc021tog.1_Missense_Mutation_p.P29L NM_153018 NP_694563 Q96NJ6 ZFP3_HUMAN Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA. 29 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 GAAAAATTTCCAAAAGTGGTT 0.423000 20 29 0 0 0.008361 0 0 TG 7038 broad.mit.edu 37 8 134128868 134128868 + Silent SNP C A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:134128868C>A uc003ytw.3 + 44 7811 c.7770C>A c.(7768-7770)atC>atA p.I2590I TG_uc010mdw.3_Silent_p.I1349I|TG_uc011ljb.2_Silent_p.I959I|TG_uc011ljc.2_Silent_p.I723I NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 2590 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) ACTTTATCATCTGCCCTATAA 0.537000 48 18 3.08376e-08 4.96999e-08 0.003330 1 0 TTC40 54777 broad.mit.edu 37 10 134628402 134628402 + Missense_Mutation SNP C A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:134628402C>A uc021qbc.1 - 50 7235 c.7134G>T c.(7132-7134)aaG>aaT p.K2378N NM_001200049 NP_001186978 Q8IYW2 CJ092_HUMAN Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA. 539 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TTCTTCCCTCCTTTTTCACGC 0.572000 36 78 6.64032e-35 1.08721e-34 0.014410 1 0 OR5W2 390148 broad.mit.edu 37 11 55681218 55681218 + Missense_Mutation SNP C A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:55681218C>A uc010rir.2 - 0 841 c.841G>T c.(841-843)Gtg>Ttg p.V281L NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA. 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 ATGGGAACCACAAGGGTGTAA 0.378000 26 11 6.40141e-05 0.000103023 0.010729 1 0 GRIA4 2893 broad.mit.edu 37 11 105623843 105623843 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:105623843C>T uc001pix.2 + 3 830 c.384C>T c.(382-384)agC>agT p.S128S GRIA4_uc001piu.1_Silent_p.S128S|GRIA4_uc001piw.2_Silent_p.S128S|GRIA4_uc001piv.3_Silent_p.S128S|GRIA4_uc009yxk.1_Silent_p.S128S NM_000829 NP_000820 P48058 GRIA4_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA. 128 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity p.S128R(4) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) AGGGGGAGAGCCAGTTTGTGC 0.473000 17 20 0 0 0.012319 0 0 ACE 1636 broad.mit.edu 37 17 61568744 61568744 + Splice_Site SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:61568744T>C uc002jau.2 + 19 2946 c.2912_splice c.e19+2 p.R971_splice ACE_uc010wpj.2_Splice_Site_p.R397_splice|ACE_uc010ddv.2_Splice_Site_p.R198_splice|ACE_uc002jav.2_Splice_Site_p.R397_splice|ACE_uc002jaw.2_Splice_Site|ACE_uc010wpk.2_Splice_Site_p.R217_splice NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 971 Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGACTTCCGGTACATCCAGCT 0.612000 21 27 0 0 0.008361 0 0 STAT3 6774 broad.mit.edu 37 17 40485919 40485919 + Missense_Mutation SNP A T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:40485919A>T uc002hzl.1 - 8 1186 c.946T>A c.(946-948)Tta>Ata p.L316I STAT3_uc002hzk.1_Missense_Mutation_p.L316I|STAT3_uc002hzm.1_Missense_Mutation_p.L316I|STAT3_uc010wgh.1_Missense_Mutation_p.L218I|STAT3_uc002hzn.1_Missense_Mutation_p.L316I NM_139276 NP_644805 P40763 STAT3_HUMAN Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA. 316 JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) CTTTTCATTAAGTTTCTAAAC 0.468000 Hyperimmunoglobulin E Recurrent Infection Syndrome 14 27 0 0 0.006320 0 0 CARD11 84433 broad.mit.edu 37 7 2949686 2949686 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:2949686G>A uc003smv.3 - 23 3592 c.3258C>T c.(3256-3258)ttC>ttT p.F1086F NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 1086 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 p.P1086T(1) 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) AGCCCTACCTGAACCTCTTGA 0.592000 Mis DLBCL 30 36 0 0 0.006999 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3679968 3679968 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:3679968G>A uc002wja.3 - 6 1667 c.1667C>T c.(1666-1668)cCc>cTc p.P556L SIGLEC1_uc002wiz.4_Missense_Mutation_p.P556L NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 556 Ig-like C2-type 5. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GCTGCTGCCGGGACCCTCGTG 0.677000 6 5 0 0 0.000602 0 0 ODF1 4956 broad.mit.edu 37 8 103573090 103573090 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:103573090C>T uc003ykt.2 + 1 839 c.731C>T c.(730-732)tCc>tTc p.S244F NM_024410 NP_077721 Q14990 ODFP1_HUMAN Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA. 244 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) AGCCGATTTTCCTGTAGGAAG 0.532000 67 30 0 0 0.003755 0 0 HEG1 57493 broad.mit.edu 37 3 124739640 124739640 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:124739640G>A uc011bke.2 - 3 1316 c.1248C>T c.(1246-1248)tcC>tcT p.S416S HEG1_uc003ehs.4_Silent_p.S416S NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA. 385 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 ACTTACTTGGGGAATCATTTT 0.383000 36 21 0 0 0.010504 0 0 ZNF609 23060 broad.mit.edu 37 15 64970588 64970588 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:64970588C>T uc002ann.3 + 4 3676 c.3676C>T c.(3676-3678)Ccc>Tcc p.P1226S NM_015042 NP_055857 O15014 ZN609_HUMAN Homo sapiens zinc finger protein 609 (ZNF609), mRNA. 1226 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GTCCTACATCCCCTACATGCA 0.602000 41 14 0 0 0.006122 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117491 117491 + RNA SNP G C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrGL000205.1:117491G>C uc002kgk.4 + 0 c.869G>C Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GTGCAGGTGGGCAGTGGCTAC 0.582000 17 6 0 0 0.001984 0 0 FBXO40 51725 broad.mit.edu 37 3 121340659 121340659 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:121340659C>T uc003eeg.2 + 2 593 c.383C>T c.(382-384)gCc>gTc p.A128V NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 128 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) TTGGACACAGCCCTGGCCCTG 0.498000 21 17 0 0 0.004007 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6528517 6528517 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:6528517G>A uc001anp.1 - 20 3108 c.2610C>T c.(2608-2610)gcC>gcT p.A870A PLEKHG5_uc001ann.1_Silent_p.A830A|PLEKHG5_uc001ano.1_Silent_p.A849A|PLEKHG5_uc001anq.1_Intron|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Silent_p.A354A|PLEKHG5_uc009vma.1_Silent_p.A633A|PLEKHG5_uc010nzr.1_Silent_p.A862A|PLEKHG5_uc001ank.1_Silent_p.A793A|PLEKHG5_uc009vmb.1_Silent_p.A793A|PLEKHG5_uc001anl.1_Silent_p.A793A|PLEKHG5_uc001anm.1_Silent_p.A793A NM_198681 NP_065682 O94827 PKHG5_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA. 849 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) TGGCAGATGAGGCAGTGGTGC 0.647000 13 10 0 0 0.006214 0 0 MICALCL 84953 broad.mit.edu 37 11 12315214 12315214 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:12315214C>T uc001mkg.1 + 2 527 c.236C>T c.(235-237)cCc>cTc p.P79L NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN Homo sapiens MICAL C-terminal like (MICALCL), mRNA. 79 Interaction with MAPK1 (By similarity). cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) AGGGAAATTCCCCTGTATCTG 0.582000 85 24 0 0 0.004656 0 0 EFHB 151651 broad.mit.edu 37 3 19975432 19975432 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:19975432G>A uc003cbl.4 - 0 275 c.79C>T c.(79-81)Ccc>Tcc p.P27S EFHB_uc003cbm.3_Intron NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN Homo sapiens EF-hand domain family, member B (EFHB), mRNA. 27 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 AACTCCATGGGAAATTTTGTT 0.483000 20 14 0 0 0.001855 0 0 OR2T1 26696 broad.mit.edu 37 1 248569331 248569331 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:248569331C>T uc010pzm.2 + 0 36 c.36C>T c.(34-36)ttC>ttT p.F12F NM_030904 NP_112166 O43869 OR2T1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA. 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 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) ATGTTTTCTTCCCACTTTTAA 0.294000 39 29 0 0 0.008361 0 0 POU2F2 5452 broad.mit.edu 37 19 42603707 42603707 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:42603707G>A uc002osp.3 - 6 535 c.473C>T c.(472-474)tCc>tTc p.S158F POU2F2_uc002osn.3_Missense_Mutation_p.S158F|POU2F2_uc002osq.3_Missense_Mutation_p.S158F|POU2F2_uc002osr.2_Missense_Mutation_p.S158F NM_001207025 NP_001193954 P09086 PO2F2_HUMAN Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA. 158 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) CCGGGGCTGGGAGGTCAGAAG 0.602000 24 9 0 0 0.010729 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323836 79323836 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:79323836C>T uc010mpk.3 - 7 3478 c.3354G>A c.(3352-3354)gtG>gtA p.V1118V PRUNE2_uc022bih.1_Silent_p.V940V NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 1118 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CCTCCAAAATCACTCTGTTCC 0.517000 68 37 0 0 0.007835 0 0 KRT74 121391 broad.mit.edu 37 12 52963665 52963665 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:52963665T>C uc001sap.1 - 5 1160 c.1112A>G c.(1111-1113)gAg>gGg p.E371G NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN Homo sapiens keratin 74 (KRT74), mRNA. 371 Coil 2.|Rod. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) ATTCCCGATCTCACACCGGAT 0.607000 23 17 0 0 0.007413 0 0 NPAS3 64067 broad.mit.edu 37 14 34266709 34266709 + Missense_Mutation SNP C G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:34266709C>G uc001wru.3 + 10 1412 c.1348C>G c.(1348-1350)Cat>Gat p.H450D NPAS3_uc001wrs.3_Missense_Mutation_p.H437D|NPAS3_uc001wrv.3_Missense_Mutation_p.H420D|NPAS3_uc001wrt.3_Missense_Mutation_p.H418D NM_001164749 NP_001158221 Q8IXF0 NPAS3_HUMAN Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA. 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) ACAGCTCCCCCATCTGCCGGA 0.507000 40 13 0 0 0.002450 0 0 TRIM61 391712 broad.mit.edu 37 4 165890999 165890999 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:165890999G>A uc003iqw.3 - 2 767 c.156C>T c.(154-156)ccC>ccT p.P52P NM_001012414 NP_001012414 Q5EBN2 TRI61_HUMAN Homo sapiens tripartite motif containing 61 (TRIM61), mRNA. 52 intracellular zinc ion binding p.P52L(1) NS(1)|kidney(1)|liver(1)|skin(1)|upper_aerodigestive_tract(1) 5 all_hematologic(180;0.221) Prostate(90;0.109) GBM - Glioblastoma multiforme(119;0.155) AAAAGGGGCAGGGGAAACTAT 0.453000 10 22 0 0 0.014323 0 0 NLRP13 126204 broad.mit.edu 37 19 56443625 56443625 + Missense_Mutation SNP A C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:56443625A>C uc010ygg.2 - 0 78 c.53T>G c.(52-54)cTg>cGg p.L18R NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 18 DAPIN. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CAGGTAAGGCAGAAGCCCTTG 0.532000 25 10 0 0 0.013537 0 0 ATP2B2 491 broad.mit.edu 37 3 10391802 10391802 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:10391802C>T uc003bvt.3 - 15 2837 c.2398G>A c.(2398-2400)Gtt>Att p.V800I ATP2B2_uc003bvv.3_Missense_Mutation_p.V755I|ATP2B2_uc003bvw.3_Missense_Mutation_p.V755I|ATP2B2_uc010hdo.3_Missense_Mutation_p.V505I NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA. 800 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TTACCTTTAACCAGGGTATGC 0.597000 21 6 0 0 0.003080 0 0 AGXT 189 broad.mit.edu 37 2 241808652 241808652 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:241808652C>T uc002waa.4 + 1 352 c.231C>T c.(229-231)gtC>gtT p.V77V AGXT_uc010zoi.1_Silent_p.V77V NM_000030 NP_000021 P21549 SPYA_HUMAN Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA. 77 glyoxylate metabolic process|protein targeting to peroxisome mitochondrial matrix|peroxisomal matrix alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity p.L76M(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1) 18 all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15) Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TCACACTGGTCATCTCTGGCT 0.607000 36 20 0 0 0.002780 0 0 CDCA2 157313 broad.mit.edu 37 8 25346122 25346122 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:25346122C>T uc003xep.1 + 12 2065 c.1588C>T c.(1588-1590)Cag>Tag p.Q530* DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Nonsense_Mutation_p.Q530*|CDCA2_uc003xeq.1_Nonsense_Mutation_p.Q515*|CDCA2_uc003xer.1_Nonsense_Mutation_p.Q193* NM_152562 NP_689775 Q69YH5 CDCA2_HUMAN Homo sapiens cell division cycle associated 2 (CDCA2), mRNA. 530 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) TACAGAAGTTCAGCCTTGTAA 0.348000 48 15 0 0 0.004007 0 0 DONSON 29980 broad.mit.edu 37 21 34951847 34951847 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr21:34951847T>C uc002ysk.3 - 8 1692 c.1372A>G c.(1372-1374)Aca>Gca p.T458A DONSON_uc002ysi.1_Missense_Mutation_p.T218A|DONSON_uc002ysj.3_Missense_Mutation_p.T91A|DONSON_uc002ysm.3_Missense_Mutation_p.T458A NM_017613 NP_060083 Q9NYP3 DONS_HUMAN Homo sapiens downstream neighbor of SON (DONSON), mRNA. 458 multicellular organismal development nucleus central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1) 11 AGAGCTTGTGTCTTCACATTC 0.378000 23 15 0 0 0.004007 0 0 DENND4A 10260 broad.mit.edu 37 15 65962215 65962216 + Missense_Mutation DNP GG AA AA TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:65962215_65962216GG>AA uc002api.3 - 26 5070_5071 c.4685_4686CC>TT c.(4684-4686)tcc>tTT p.S1562F DENND4A_uc002aph.3_Missense_Mutation_p.S1519F NM_001144823 NP_001138295 Q7Z401 MYCPP_HUMAN Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA. 1519 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TTGAAATGGAGGATGGAAAGTG 0.386000 19 22 0 0 0.004672 0 0 C19orf55 148137 broad.mit.edu 37 19 36256056 36256056 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:36256056G>A uc021usz.1 + 6 821 c.748G>A c.(748-750)Ggc>Agc p.G250S NM_001039887 NP_001034976 Q2NL68 CS055_HUMAN Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA. 250 cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1) 15 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTCCAGCAAGGGCCTTGGCCC 0.617000 18 12 0 0 0.010729 0 0 CNTN5 53942 broad.mit.edu 37 11 100170080 100170080 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:100170080G>A uc001pga.3 + 19 3076 c.2572G>A c.(2572-2574)Gga>Aga p.G858R CNTN5_uc001pfz.3_Missense_Mutation_p.G858R|CNTN5_uc021qpb.1_Missense_Mutation_p.G858R|CNTN5_uc021qpc.1_Missense_Mutation_p.G784R|CNTN5_uc010ruk.2_Missense_Mutation_p.G129R NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 858 Fibronectin type-III 2. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TAACAATAAAGGAGATGGGCC 0.348000 51 14 0 0 0.004007 0 0 DNAH5 1767 broad.mit.edu 37 5 13891126 13891126 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:13891126C>T uc003jfd.2 - 16 2578 c.2536G>A c.(2536-2538)Gag>Aag p.E846K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 846 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) AGTGGCTCCTCCTGGGGAAGC 0.413000 Kartagener syndrome 99 94 0 0 0.014410 0 0 CYP2C9 1559 broad.mit.edu 37 10 96745846 96745846 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:96745846C>T uc001kka.4 + 7 1231 c.1206C>T c.(1204-1206)ccC>ccT p.P402P CYP2C9_uc009xut.3_Silent_p.P400P NM_000771 NP_000762 P11712 CP2C9_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA. 402 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity p.P402S(1) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) AAGAATTTCCCAACCCAGAGA 0.373000 26 38 0 0 0.006230 0 0 C16orf90 646174 broad.mit.edu 37 16 3545419 3545419 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:3545419C>T uc002cvi.3 - 0 3 c.3G>A c.(1-3)atG>atA p.M1I NM_001080524 NP_001073993 A8MZG2 CP090_HUMAN Homo sapiens chromosome 16 open reading frame 90 (C16orf90), mRNA. 0 large_intestine(1) 1 CCAAGGCTTCCATGGAGGGCC 0.617000 12 4 0 0 0.009096 0 0 ABCA6 23460 broad.mit.edu 37 17 67129904 67129904 + Silent SNP A G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:67129904A>G uc002jhw.1 - 5 844 c.669T>C c.(667-669)ttT>ttC p.F223F NM_080284 NP_525023 Q8N139 ABCA6_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA. 223 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) AGAATAAAATAAACATCTCAT 0.318000 35 10 0 0 0.010729 0 0 GAMT 2593 broad.mit.edu 37 19 1398961 1398961 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:1398961C>T uc002lsj.3 - 4 601 c.524G>A c.(523-525)gGg>gAg p.G175E AK126693_uc002lsi.1_5'Flank|GAMT_uc002lsk.3_Missense_Mutation_p.G175E NM_000156 NP_000147 Q14353 GAMT_HUMAN Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA. 175 creatine biosynthetic process|muscle contraction cytosol guanidinoacetate N-methyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1) 6 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) Creatine(DB00148) CATCAGCTCCCCCCAGGAGGT 0.607000 25 14 0 0 0.003163 0 0 ATG2A 23130 broad.mit.edu 37 11 64677197 64677197 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:64677197G>A uc001obx.3 - 13 2178 c.2063C>T c.(2062-2064)cCc>cTc p.P688L NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA. 688 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 GGGGACTGGGGGACCAGGCCC 0.667000 23 5 0 0 0.001168 0 0 MYH15 22989 broad.mit.edu 37 3 108135721 108135721 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:108135721C>T uc003dxa.1 - 29 4003 c.3946G>A c.(3946-3948)Gaa>Aaa p.E1316K NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 1316 myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity p.R1315M(1) 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 TTGCTCTTTTCCCTGGAAAGT 0.418000 37 21 0 0 0.010504 0 0 DNAH8 1769 broad.mit.edu 37 6 38754570 38754570 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:38754570C>T uc021yzh.1 + 17 2534 c.2425C>T c.(2425-2427)Cca>Tca p.P809S DNAH8_uc003ooe.2_Missense_Mutation_p.P592S NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGTGCGACATCCAGAAACAGG 0.358000 35 7 0 0 0.003080 0 0 CALD1 800 broad.mit.edu 37 7 134625950 134625950 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:134625950C>T uc003vrz.3 + 6 1960 c.1494C>T c.(1492-1494)ttC>ttT p.F498F CALD1_uc003vry.3_Silent_p.F243F|CALD1_uc003vsb.3_Silent_p.F243F|CALD1_uc011kpt.2_Silent_p.F17F|CALD1_uc010lmm.3_Silent_p.F269F|CALD1_uc003vsc.3_Silent_p.F263F|CALD1_uc003vsd.3_Silent_p.F237F|CALD1_uc011kpu.2_Silent_p.F248F|CALD1_uc011kpv.2_Silent_p.F107F|CALD1_uc003vse.3_Silent_p.F362F NM_033138 NP_149129 Q05682 CALD1_HUMAN Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA. 498 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding p.F498L(2) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 ATGGAGAATTCATGACCCACA 0.328000 17 24 0 0 0.003954 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140229697 140229697 + Missense_Mutation SNP C G G rs141845549 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:140229697C>G uc003lhu.2 + 0 2341 c.1617C>G c.(1615-1617)gaC>gaG p.D539E PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.D539E NM_031857 NP_114063 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA. 553 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGCGACGCGGGCGTGC 0.672000 48 44 0 0 0.014410 0 0 NRXN3 9369 broad.mit.edu 37 14 79432697 79432697 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:79432697C>T uc001xun.3 + 8 2097 c.1606C>T c.(1606-1608)Ctc>Ttc p.L536F NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.L661F NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 127 angiogenesis|cell adhesion integral to membrane p.L536I(2) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGGCTTCATTCTCTTCAATAG 0.473000 40 23 0 0 0.014323 0 0 NYNRIN 57523 broad.mit.edu 37 14 24877292 24877293 + Missense_Mutation DNP GG AA AA TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:24877292_24877293GG>AA uc001wpf.4 + 2 734_735 c.416_417GG>AA c.(415-417)ggg>gAA p.G139E NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA. 139 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 GAGCTGGTGGGGCGACTGCGCT 0.683000 9 6 0 0 0.004672 0 0 TMEM61 199964 broad.mit.edu 37 1 55451846 55451846 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:55451846G>A uc001cyd.3 + 1 366 c.92G>A c.(91-93)gGg>gAg p.G31E NM_182532 NP_872338 Q8N0U2 TMM61_HUMAN Homo sapiens transmembrane protein 61 (TMEM61), mRNA. 31 integral to membrane endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 4 CTGGTGGCCGGGACGCTCTGC 0.657000 21 30 0 0 0.009535 0 0 PDE10A 10846 broad.mit.edu 37 6 165832235 165832235 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:165832235G>A uc003qun.3 - 11 1101 c.856C>T c.(856-858)Cgt>Tgt p.R286C PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.R216C|PDE10A_uc003quo.3_Missense_Mutation_p.R296C NM_006661 NP_006652 Q9Y233 PDE10_HUMAN RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A; EC=3.1.4.17; EC=3.1.4.35; 286 Allosteric effector binding.|GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) AGCGCACAACGATCGGCATTC 0.373000 9 14 0 0 0.004007 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105363294 105363294 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:105363294G>A uc010qqu.1 - 11 1493 c.1426C>T c.(1426-1428)Cct>Tct p.P476S SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.P368S|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.P410S|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.P368S|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.P533S NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA. 561 SH3 3. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) CCGAATGCAGGGATGTCATAC 0.677000 10 14 0 0 0.002450 0 0 MUC16 94025 broad.mit.edu 37 19 9066772 9066772 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:9066772C>T uc002mkp.3 - 2 20878 c.20674G>A c.(20674-20676)Gaa>Aaa p.E6892K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6894 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 CTGGTGGTTTCCACATTAGTC 0.488000 100 38 0 0 0.006230 0 0 ALPP 250 broad.mit.edu 37 2 233244608 233244608 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:233244608G>A uc002vsq.3 + 4 784 c.619G>A c.(619-621)Gac>Aac p.D207N NM_001632 NP_001623 P05187 PPB1_HUMAN Homo sapiens alkaline phosphatase, placental (ALPP), mRNA. 207 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GGGGTGCCAGGACATCGCTAC 0.682000 41 17 0 0 0.007413 0 0 SLC6A3 6531 broad.mit.edu 37 5 1422009 1422009 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:1422009G>A uc003jck.3 - 4 900 c.774C>T c.(772-774)ggC>ggT p.G258G NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 258 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body p.G258C(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) AGGTCTTCACGCCCTTCCAGA 0.637000 67 41 0 0 0.011902 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 111766 111766 + Missense_Mutation SNP A C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrGL000209.1:111766A>C uc002qtt.2 + 5 790 c.761A>C c.(760-762)aAa>aCa p.K254T KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc021vdb.1_Missense_Mutation_p.K254T|KIR2DL2_uc010yie.2_Intron|KIR2DL2_uc002qul.2_Missense_Mutation_p.K254T NM_012313 NP_036445 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 (KIR2DS3), mRNA. 254 regulation of immune response integral to membrane|plasma membrane receptor activity TCAGTGGTCAAACTCCCTTTC 0.483000 151 41 0 0 0.010771 0 0 FSIP2 401024 broad.mit.edu 37 2 186670672 186670672 + Missense_Mutation SNP A C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:186670672A>C uc002upl.3 + 16 16906 c.16906A>C c.(16906-16908)Agt>Cgt p.S5636R FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CACTGTGAAAAGTAAAGATAC 0.289000 58 41 0 0 0.007835 0 0 LIMA1 51474 broad.mit.edu 37 12 50615941 50615941 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:50615941G>A uc001rwj.4 - 3 667 c.493C>T c.(493-495)Cta>Tta p.L165L LIMA1_uc001rwh.4_Silent_p.L5L|LIMA1_uc001rwi.4_Silent_p.L5L|LIMA1_uc001rwk.4_Silent_p.L165L|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript NM_016357 NP_001230704 Q9UHB6 LIMA1_HUMAN Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA. 165 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2) 44 GATTCTCCTAGACAATTTTCC 0.418000 64 18 0 0 0.004990 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554534 140554534 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:140554534C>T uc003lit.3 + 0 2292 c.2118C>T c.(2116-2118)ttC>ttT p.F706F PCDHB8_uc011dai.2_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 706 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.F706F(2) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTCCTGTTCGTGGCGGTGC 0.692000 105 48 0 0 0.014410 0 0 CCDC88A 55704 broad.mit.edu 37 2 55566693 55566693 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:55566693G>A uc002ryv.2 - 12 2267 c.1425C>T c.(1423-1425)acC>acT p.T475T CCDC88A_uc010ypa.1_Silent_p.T475T|CCDC88A_uc010yoz.1_Silent_p.T475T|CCDC88A_uc010ypb.1_Silent_p.T377T NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA. 475 DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 GCTCTTCTACGGTTTTTGTCA 0.378000 42 15 0 0 0.002450 0 0 CAPN2 824 broad.mit.edu 37 1 223939704 223939704 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:223939704C>T uc001hob.4 + 7 1129 c.905C>T c.(904-906)cCa>cTa p.P302L CAPN2_uc010puy.2_Missense_Mutation_p.P224L NM_001748 NP_001139540 P17655 CAN2_HUMAN Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA. 302 Calpain catalytic. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) TCCAGCTGCCCAAGCTGGAAC 0.507000 22 16 0 0 0.004007 0 0 GAGE10 643832 broad.mit.edu 37 X 49173756 49173756 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:49173756G>A uc010nir.1 + 3 433 c.317G>A c.(316-318)aGg>aAg p.R106K NM_001098413 NP_001091883 A6NGK3 GAG10_HUMAN Homo sapiens G antigen 10 (GAGE10), mRNA. 106 breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 Ovarian(276;0.236) GAGGTGAAAAGGCCTGAAGAA 0.473000 40 80 0 0 0.014410 0 0 PBX1 5087 broad.mit.edu 37 1 164769100 164769100 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:164769100C>T uc001gct.3 + 3 1138 c.675C>T c.(673-675)atC>atT p.I225I PBX1_uc010pku.2_Silent_p.I225I|PBX1_uc001gcs.3_Silent_p.I225I|PBX1_uc010pkv.2_Silent_p.I142I|PBX1_uc010pkw.1_Silent_p.I115I NM_002585 NP_002576 P40424 PBX1_HUMAN Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA. 225 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 CGGTGATGATCCTGCGTTCCC 0.612000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 23 12 0 0 0.010729 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45499524 45499524 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr21:45499524C>T uc002zea.3 + 11 1718 c.1549C>T c.(1549-1551)Ccc>Tcc p.P517S TRAPPC10_uc010gpo.3_Missense_Mutation_p.P228S NM_003274 NP_003265 P48553 TPC10_HUMAN Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA. 517 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 CTGGGCACTCCCCATCACACA 0.428000 16 8 0 0 0.004482 0 0 TREML1 340205 broad.mit.edu 37 6 41117417 41117417 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:41117417C>T uc011duc.2 - 5 905 c.861G>A c.(859-861)ccG>ccA p.P287P TREML1_uc003opx.3_3'UTR|TREML1_uc011dud.2_Silent_p.P176P NM_178174 NP_835468 Q86YW5 TRML1_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA. 287 calcium-mediated signaling|innate immune response|platelet activation cell surface|integral to membrane|plasma membrane|platelet alpha granule protein binding|receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 13 Ovarian(28;0.0418)|Colorectal(47;0.196) TGTTCCCTCCCGGGAAGATTA 0.537000 34 28 0 0 0.007291 0 0 TNR 7143 broad.mit.edu 37 1 175304902 175304902 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:175304902C>T uc001gkp.1 - 17 3657 c.3576G>A c.(3574-3576)cgG>cgA p.R1192R TNR_uc009wwu.1_Silent_p.R1192R NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 1192 Fibrinogen C-terminal. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CAGCCCATTTCCGGAAAAAAT 0.418000 61 35 0 0 0.004878 0 0 NOS1 4842 broad.mit.edu 37 12 117665423 117665423 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:117665423C>T uc001twn.2 - 23 4242 c.3531G>A c.(3529-3531)tgG>tgA p.W1177* NOS1_uc021ren.1_Nonsense_Mutation_p.W807*|NOS1_uc021reo.1_Nonsense_Mutation_p.W807*|NOS1_uc001twm.2_Nonsense_Mutation_p.W1143* NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 1143 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGCCCCATTTCCATTCCTCGT 0.592000 17 17 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179500945 179500945 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:179500945T>C uc021vsy.1 - 174 33874 c.33649A>G c.(33649-33651)Aca>Gca p.T11217A MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T4912A|TTN_uc021vta.1_Missense_Mutation_p.T4845A|TTN_uc021vtb.1_Missense_Mutation_p.T4720A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 12144 Glu-rich.|Pro-rich. 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) TCTTCCAGTGTTTTTACAAAA 0.373000 11 12 0 0 0.013537 0 0 ZNF33A 7581 broad.mit.edu 37 10 38305931 38305931 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:38305931C>T uc010qev.2 + 1 267 c.163C>T c.(163-165)Ctt>Ttt p.L55F ZNF33A_uc001izg.3_Missense_Mutation_p.L48F|ZNF33A_uc001izh.3_Missense_Mutation_p.L48F|ZNF33A_uc001izi.1_Missense_Mutation_p.L48F|ZNF33A_uc021ppe.1_Missense_Mutation_p.L48F|ZNF33A_uc001izj.3_Non-coding_Transcript NM_006974 NP_008905 Q06730 ZN33A_HUMAN Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA. 48 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2) 46 CTACAGCAACCTTGTCTCAGT 0.438000 18 36 0 0 0.010771 0 0 AGAP11 119385 broad.mit.edu 37 10 88768349 88768350 + Missense_Mutation DNP AC TT TT TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:88768349_88768350AC>TT uc001kee.2 + 11 1544_1545 c.340_341AC>TT c.(340-342)acc>TTc p.T114F 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. 114 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding TCACGCTGACACCATCGGGAGC 0.520000 59 130 0 0 0.004672 0 0 CHERP 10523 broad.mit.edu 37 19 16640618 16640618 + Missense_Mutation SNP A G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:16640618A>G uc002nei.1 - 7 1044 c.970T>C c.(970-972)Ttt>Ctt p.F324L MED26_uc002nee.2_Intron NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA. 324 Gln-rich. RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 CTGGTGACAAACTCCTCGTGC 0.627000 17 8 0 0 0.013537 0 0 SORL1 6653 broad.mit.edu 37 11 121393401 121393401 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:121393401T>C uc001pxx.3 + 9 1640 c.1511T>C c.(1510-1512)aTc>aCc p.I504T NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 504 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) CCAGGCCTCATCATCGCCACT 0.582000 71 17 0 0 0.004990 0 0 DSG1 1828 broad.mit.edu 37 18 28934829 28934829 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr18:28934829G>A uc002kwp.3 + 14 2882 c.2670G>A c.(2668-2670)tcG>tcA p.S890S DSG1_uc010xbp.2_Silent_p.S249S NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 890 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) GAGATGGGTCGAATGTTATAG 0.483000 23 59 0 0 0.014410 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215876 20215876 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:20215876G>A uc010tkt.2 + 0 290 c.290G>A c.(289-291)gGa>gAa p.G97E NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 97 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) TCTTTTTCAGGATGCCTGGCC 0.473000 35 5 0 0 0.000602 0 0 TOX2 84969 broad.mit.edu 37 20 42695394 42695394 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:42695394C>T uc010ggo.3 + 7 1421 c.1381C>T c.(1381-1383)Ccc>Tcc p.P461S TOX2_uc002xle.4_Missense_Mutation_p.P419S|TOX2_uc010ggp.3_Missense_Mutation_p.P419S|TOX2_uc002xlf.4_Missense_Mutation_p.P443S|TOX2_uc010zwk.2_Missense_Mutation_p.P339S NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 443 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) CTCTGAGTTCCCCAGCAGCTC 0.647000 43 24 0 0 0.005443 0 0 RAC1 5879 broad.mit.edu 37 7 6426906 6426906 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:6426906C>T uc003spx.3 + 1 340 c.99C>T c.(97-99)atC>atT p.I33I RAC1_uc003spw.3_Silent_p.I33I|RAC1_uc021zzg.1_5'UTR NM_006908 NP_008839 P63000 RAC1_HUMAN Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA. 33 T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) GAGAATATATCCCTACTGTGT 0.358000 50 49 0 0 0.014410 0 0 EPHB2 2048 broad.mit.edu 37 1 23208887 23208887 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:23208887C>T uc009vqj.1 + 5 1484 c.1339C>T c.(1339-1341)Cgc>Tgc p.R447C EPHB2_uc001bge.3_Missense_Mutation_p.R447C|EPHB2_uc001bgf.3_Missense_Mutation_p.R447C|EPHB2_uc010odu.2_Missense_Mutation_p.R447C NM_017449 NP_059145 P29323 EPHB2_HUMAN Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA. 447 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) TCAGGTGAGCCGCACCGTGGA 0.587000 40 9 0 0 0.006214 0 0 PPP4R4 57718 broad.mit.edu 37 14 94700961 94700961 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:94700961G>A uc001ycs.1 + 6 840 c.686G>A c.(685-687)cGa>cAa p.R229Q NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA. 229 cytoplasm|protein serine/threonine phosphatase complex protein binding p.R229*(1) NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 TATGAAGTTCGATCTTGTATG 0.388000 16 9 0 0 0.010729 0 0 FAM50A 9130 broad.mit.edu 37 X 153678387 153678387 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:153678387C>T uc004fll.4 + 10 950 c.840C>T c.(838-840)ttC>ttT p.F280F NM_004699 NP_004690 Q14320 FA50A_HUMAN Homo sapiens family with sequence similarity 50, member A (FAM50A), mRNA. 280 spermatogenesis nucleus breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GACCACTCTTCAACTTTGATG 0.622000 OREG0003609 type=REGULATORY REGION|Gene=FAM50A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 17 0 0 0.004007 0 0 WWP2 11060 broad.mit.edu 37 16 69965107 69965107 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:69965107C>T uc002exu.1 + 14 1587 c.1498C>T c.(1498-1500)Cac>Tac p.H500Y WWP2_uc002exv.1_Missense_Mutation_p.H500Y|WWP2_uc010vlm.1_Missense_Mutation_p.H384Y|WWP2_uc010vln.1_Missense_Mutation_p.H118Y|WWP2_uc002exw.1_Missense_Mutation_p.H61Y|MIR140_uc002exx.1_5'Flank NM_007014 NP_008945 O00308 WWP2_HUMAN Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA. 500 entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 GTGGAAGTATCACCAGTTCCG 0.507000 46 18 0 0 0.010504 0 0 ADAM28 10863 broad.mit.edu 37 8 24181448 24181448 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:24181448G>A uc003xdy.3 + 8 905 c.822G>A c.(820-822)gaG>gaA p.E274E ADAM28_uc003xdx.3_Silent_p.E274E|ADAM28_uc011kzz.2_Silent_p.E41E|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 274 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding p.E274D(2) central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) TCACCTTGGAGAATTTTTCTA 0.383000 41 22 0 0 0.002780 0 0 SLC35F4 341880 broad.mit.edu 37 14 58048095 58048095 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:58048095C>T uc021rtp.1 - 3 690 c.641G>A c.(640-642)aGa>aAa p.R214K SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_Missense_Mutation_p.R92K NM_001206920 NP_001193849 Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA. breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GGGAGCAGTTCTTTTAAGAAA 0.413000 9 5 0 0 0.003080 0 0 OR7D2 162998 broad.mit.edu 37 19 9296779 9296779 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:9296779C>T uc002mkz.1 + 0 510 c.322C>T c.(322-324)Cct>Tct p.P108S NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA. 108 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 CATGTTTTTTCCTATTCTGGA 0.512000 84 22 0 0 0.004656 0 0 MTHFSD 64779 broad.mit.edu 37 16 86565627 86565627 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:86565627C>T uc002fjn.3 - 7 1193 c.1142G>A c.(1141-1143)aGg>aAg p.R381K MTHFSD_uc002fjm.3_Missense_Mutation_p.R380K|MTHFSD_uc010voo.2_Missense_Mutation_p.R361K|MTHFSD_uc010vop.2_Missense_Mutation_p.R218K|MTHFSD_uc010voq.2_Missense_Mutation_p.R380K|MTHFSD_uc010vor.2_Missense_Mutation_p.R381K|MTHFSD_uc002fjo.3_Missense_Mutation_p.R218K NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA. 381 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding endometrium(1)|large_intestine(3)|lung(6)|skin(1) 11 TCACTTGTCCCTCTGCTGCCT 0.697000 0 5 0 0 0.001168 0 0 NBPF1 55672 broad.mit.edu 37 1 16892226 16892226 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:16892226G>A uc009vos.1 - 26 3854 c.2966C>T c.(2965-2967)cCt>cTt p.P989L AB1_uc001ayw.3_5'Flank NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 989 NBPF 6. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ACAACTGGAAGGAGTTGAATA 0.473000 678 47 0 0 0.014410 0 0 NTHL1 4913 broad.mit.edu 37 16 2097828 2097828 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:2097828G>A uc002col.1 - 0 40 c.21C>T c.(19-21)tcC>tcT p.S7S TCRBV20S1_uc021tak.1_Intron|TSC2_uc010uvu.1_5'Flank|TSC2_uc002con.3_5'Flank|TSC2_uc010bsd.3_5'Flank|TSC2_uc002coo.3_5'Flank|TSC2_uc010uvv.2_5'Flank|TSC2_uc010uvw.2_5'Flank|TSC2_uc002cop.3_5'Flank NM_002528 NP_002519 P78549 NTHL1_HUMAN Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA. 7 depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion nucleoplasm 4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding lung(1) 1 CGGTCATGCCGGACTCCTGCG 0.711000 Base excision repair (BER), DNA glycosylases 3 3 0 0 0.004672 0 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293629 71293629 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:71293629G>A uc001oqu.3 - 0 293 c.255C>T c.(253-255)tcC>tcT p.S85S NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA. 85 6 X 4 AA repeats of C-C-X-P. keratin filament p.S85F(2) endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TACAGCAGTTGGACTGGGAGC 0.622000 43 10 0 0 0.006214 0 0 LTN1 26046 broad.mit.edu 37 21 30316752 30316752 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr21:30316752G>A uc002ymr.2 - 21 4086 c.4073C>T c.(4072-4074)tCc>tTc p.S1358F NM_015565 NP_056380 O94822 LTN1_HUMAN Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA. 1312 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GATGCCTTGGGAAAAAAATTC 0.383000 46 28 0 0 0.009535 0 0 OR10R2 343406 broad.mit.edu 37 1 158450327 158450327 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:158450327C>T uc010pik.2 + 0 660 c.660C>T c.(658-660)ttC>ttT p.F220F AK057554_uc001fso.1_Non-coding_Transcript NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA. 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 41 all_hematologic(112;0.0378) TTGTGATATTCATTTGTGGAG 0.408000 86 42 0 0 0.009718 0 0 PRG3 10394 broad.mit.edu 37 11 57147108 57147108 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:57147108G>A uc001njv.2 - 2 344 c.234C>T c.(232-234)gcC>gcT p.A78A NM_006093 NP_006084 Q9Y2Y8 PRG3_HUMAN Homo sapiens proteoglycan 3 (PRG3), mRNA. 78 basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 13 CCGACTCCATGGCTTCCTCAT 0.552000 58 19 0 0 0.010504 0 0 CSRNP3 80034 broad.mit.edu 37 2 166535361 166535361 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:166535361C>T uc002udf.3 + 6 1232 c.856C>T c.(856-858)Ccc>Tcc p.P286S CSRNP3_uc002udg.3_Missense_Mutation_p.P286S NM_001172173 NP_079245 Q8WYN3 CSRN3_HUMAN Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA. 286 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 GCAGCAAATCCCCACGCTGAA 0.448000 29 26 0 0 0.004656 0 0 HOMER2 9455 broad.mit.edu 37 15 83561583 83561583 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:83561583T>C uc002bjg.3 - 1 205 c.16A>G c.(16-18)Atc>Gtc p.I6V HOMER2_uc002bjh.3_Missense_Mutation_p.I6V NM_199330 NP_955362 Q9NSB8 HOME2_HUMAN Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA. 6 WH1. metabotropic glutamate receptor signaling pathway cell junction|cytoplasm|postsynaptic density|postsynaptic membrane cervix(1)|endometrium(2)|lung(6) 9 GTGGTGAAGATGGGCTGTTCT 0.478000 33 31 0 0 0.003271 0 0 TTN 7273 broad.mit.edu 37 2 179647676 179647676 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:179647676G>A uc021vsy.1 - 17 3182 c.2957C>T c.(2956-2958)tCc>tTc p.S986F TTN_uc021vsz.1_Missense_Mutation_p.S940F|TTN_uc021vta.1_Missense_Mutation_p.S940F|TTN_uc021vtb.1_Missense_Mutation_p.S940F|TTN_uc002unb.2_Missense_Mutation_p.S986F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 986 Ig-like 3. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.V986M(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) GAAGTCAATGGAACTTTCGAT 0.473000 39 23 0 0 0.004656 0 0 NTRK3 4916 broad.mit.edu 37 15 88476251 88476251 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:88476251C>T uc002bme.2 - 15 2187 c.1881G>A c.(1879-1881)aaG>aaA p.K627K NTRK3_uc002bmh.2_Silent_p.K619K|NTRK3_uc002bmf.2_Silent_p.K627K|NTRK3_uc021sua.1_Silent_p.K619K|NTRK3_uc010upl.1_Silent_p.K529K|NTRK3_uc010bnh.1_Silent_p.K619K NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 627 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) ACCTGAGGAACTTATTCAGGT 0.517000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 15 14 0 0 0.004007 0 0 C14orf126 112487 broad.mit.edu 37 14 31926593 31926593 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:31926593C>T uc001wrj.3 - 0 88 c.7G>A c.(7-9)Gag>Aag p.E3K HEATR5A_uc010tpk.1_5'UTR NM_080664 NP_542395 Q96FN9 DTD2_HUMAN Homo sapiens chromosome 14 open reading frame 126 (C14orf126), mRNA. 3 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 8 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0113)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00888) CGGCTACCCTCAGCCATGGCT 0.706000 4 4 0 0 0.009096 0 0 DNAH5 1767 broad.mit.edu 37 5 13737376 13737376 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:13737376C>T uc003jfd.2 - 65 11482 c.11440G>A c.(11440-11442)Gag>Aag p.E3814K DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3814 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R3813Q(1) 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) CTGTATTCCTCCCGGGCTGAG 0.428000 Kartagener syndrome 28 87 0 0 0.014410 0 0 MGAM 8972 broad.mit.edu 37 7 141758058 141758058 + Missense_Mutation SNP G T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:141758058G>T uc003vwy.3 + 30 3803 c.3749G>T c.(3748-3750)cGc>cTc p.R1250L NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1250 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CAGCTGTGTCGCTATGGCTAC 0.483000 185 44 3.39706e-21 5.53793e-21 0.014410 1 0 WBSCR28 135886 broad.mit.edu 37 7 73279336 73279336 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:73279336G>A uc003tzk.2 + 1 122 c.86G>A c.(85-87)cGa>cAa p.R29Q WBSCR28_uc003tzl.2_5'UTR NM_182504 NP_872310 Q6UE05 WBS28_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA. 29 integral to membrane p.R29I(2) breast(2)|kidney(2)|lung(6)|skin(1) 11 Lung NSC(55;0.159) GTTCAGAACCGAGATCACCTC 0.512000 270 63 0 0 0.014410 0 0 C2orf78 388960 broad.mit.edu 37 2 74042413 74042413 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:74042413G>A uc002sjr.1 + 2 1184 c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA. 355 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TCCAAGCCAGGAAAAAAATGA 0.428000 31 17 0 0 0.010504 0 0 OR51A4 401666 broad.mit.edu 37 11 4967515 4967515 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:4967515G>A uc010qys.2 - 0 816 c.816C>T c.(814-816)ctC>ctT p.L272L NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA. 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAACATTAATGAGGGGAGAGA 0.443000 144 31 0 0 0.010818 0 0 SPOCD1 90853 broad.mit.edu 37 1 32265727 32265727 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:32265727G>A uc001bts.1 - 4 1676 c.1618C>T c.(1618-1620)Cct>Tct p.P540S SPOCD1_uc001btu.3_Missense_Mutation_p.P540S|SPOCD1_uc001btv.3_Missense_Mutation_p.P33S|SPOCD1_uc021oks.1_5'Flank|SPOCD1_uc001btw.1_5'Flank NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA. 540 transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCTCCTGAAGGAGAAGGCTGG 0.642000 5 9 0 0 0.004482 0 0 ALDOC 230 broad.mit.edu 37 17 26901211 26901211 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:26901211C>T uc002hbp.3 - 6 818 c.673G>A c.(673-675)Gag>Aag p.E225K PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank NM_005165 NP_005156 P09972 ALDOC_HUMAN Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA. 225 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) AGGGTCCCCTCCAGGTATACA 0.582000 46 54 0 0 0.014410 0 0 NEB 4703 broad.mit.edu 37 2 152496875 152496875 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:152496875C>T uc021vrb.1 - 58 8708 c.8679G>A c.(8677-8679)caG>caA p.Q2893Q NEB_uc002txu.3_Silent_p.Q2893Q|NEB_uc021vrc.1_Silent_p.Q2893Q|NEB_uc010fnx.3_Silent_p.Q2893Q|NEB_uc021vrd.1_Silent_p.Q2893Q NM_004543 NP_004534 P20929 NEBU_HUMAN Homo sapiens nebulin (NEB), transcript variant 3, mRNA. 2893 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development Z disc|actin cytoskeleton|cytosol actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCACATCGCTCTGGAGGTCAT 0.517000 52 20 0 0 0.010504 0 0 ZNF643 65243 broad.mit.edu 37 1 40928144 40928144 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:40928144C>T uc001cfn.2 + 4 785 c.488C>T c.(487-489)tCg>tTg p.S163L ZNF643_uc001cfl.2_Missense_Mutation_p.S61L|ZNF643_uc001cfm.2_Missense_Mutation_p.S29L NM_023070 NP_075558 Q9UJL9 ZN643_HUMAN Homo sapiens zinc finger protein 643 (ZNF643), mRNA. 163 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S61L(2) large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.25e-18) AATGATATTTCGTGGGAAGAA 0.338000 102 103 0 0 0.014410 0 0 RFX4 5992 broad.mit.edu 37 12 107080830 107080830 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:107080830C>T uc001tlt.3 + 5 713 c.573C>T c.(571-573)ccC>ccT p.P191P LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.P182P|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Silent_p.P191P|RFX4_uc001tlv.3_Silent_p.P88P|LOC100505978_uc001tlu.3_5'Flank NM_001206691 NP_001193620 Q33E94 RFX4_HUMAN Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA. 182 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 CAGAATTTCCCAATGTCAAAG 0.502000 47 38 0 0 0.008740 0 0 CNTN2 6900 broad.mit.edu 37 1 205028341 205028341 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:205028341C>T uc001hbr.3 + 5 886 c.617C>T c.(616-618)tCc>tTc p.S206F CNTN2_uc001hbq.1_Missense_Mutation_p.S97F|CNTN2_uc009xbi.3_Missense_Mutation_p.S97F|CNTN2_uc001hbs.3_5'UTR NM_005076 NP_005067 Q02246 CNTN2_HUMAN Homo sapiens contactin 2 (axonal) (CNTN2), mRNA. 206 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) GGCAACTACTCCTGTTTGGCC 0.582000 18 8 0 0 0.004482 0 0 BUD13 84811 broad.mit.edu 37 11 116633303 116633303 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:116633303G>A uc001ppn.3 - 3 1036 c.1002C>T c.(1000-1002)tcC>tcT p.S334S BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Silent_p.S334S NM_032725 NP_116114 Q9BRD0 BUD13_HUMAN Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA. 334 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1) 22 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154) CTCCAAAATGGGATTTTGCTT 0.448000 262 82 0 0 0.014410 0 0 SACS 26278 broad.mit.edu 37 13 23928011 23928011 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr13:23928011G>A uc001uon.2 - 8 2687 c.2098C>T c.(2098-2100)Ctt>Ttt p.L700F SACS_uc001uoo.2_Missense_Mutation_p.L553F|SACS_uc001uop.1_Missense_Mutation_p.L487F|SACS_uc001uoq.1_Missense_Mutation_p.L553F NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA. 700 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTTGGGAAAAGGGACCTGAAA 0.373000 30 22 0 0 0.003330 0 0 NCKAP5 344148 broad.mit.edu 37 2 133486512 133486512 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:133486512G>A uc002ttp.3 - 17 5831 c.5457C>T c.(5455-5457)tcC>tcT p.S1819S NCKAP5_uc002ttq.3_Silent_p.S500S NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1819 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TCTGCTTTTGGGAACTGACTT 0.478000 155 84 0 0 0.014410 0 0 ZNF592 9640 broad.mit.edu 37 15 85326156 85326156 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:85326156G>A uc002bld.3 + 3 586 c.250G>A c.(250-252)Gac>Aac p.D84N ZNF592_uc010upb.2_Non-coding_Transcript NM_014630 NP_055445 Q92610 ZN592_HUMAN Homo sapiens zinc finger protein 592 (ZNF592), mRNA. 84 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGCGGAGAAAGACCACATTAC 0.512000 37 14 0 0 0.002450 0 0 OR4M1 441670 broad.mit.edu 37 14 20248826 20248826 + Silent SNP C T T rs138166254 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:20248826C>T uc010tku.2 + 0 345 c.345C>T c.(343-345)ctC>ctT p.L115L NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA. 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTTCTTGCTCACAGTGATGG 0.488000 151 23 0 0 0.014323 0 0 PCNXL2 80003 broad.mit.edu 37 1 233225830 233225830 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:233225830C>T uc001hvl.2 - 22 4288 c.4053G>A c.(4051-4053)gtG>gtA p.V1351V PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 1351 integral to membrane p.V1351L(1) NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CCCAGAATTTCACTGGCCTGA 0.423000 23 9 0 0 0.010729 0 0 ARHGAP6 395 broad.mit.edu 37 X 11174717 11174717 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:11174717C>T uc004cup.1 - 9 2712 c.1839G>A c.(1837-1839)ctG>ctA p.L613L ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Silent_p.L613L|ARHGAP6_uc004cum.1_Silent_p.L410L|ARHGAP6_uc004cun.1_Silent_p.L433L|ARHGAP6_uc010neb.1_Silent_p.L435L|ARHGAP6_uc011mif.1_Silent_p.L410L NM_013427 NP_038286 O43182 RHG06_HUMAN Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA. 613 Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly actin filament|cytosol Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 ACAGGCTGATCAGCACTTCGT 0.448000 4 20 0 0 0.002780 0 0 AQR 9716 broad.mit.edu 37 15 35202393 35202393 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:35202393G>A uc001ziv.3 - 16 1787 c.1606C>T c.(1606-1608)Cgt>Tgt p.R536C NM_014691 NP_055506 O60306 AQR_HUMAN Homo sapiens aquarius homolog (mouse) (AQR), mRNA. 536 catalytic step 2 spliceosome RNA binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 57 Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08) all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283) ACATCTGCACGAACTCGGGTT 0.448000 74 30 0 0 0.010818 0 0 OR1J4 26219 broad.mit.edu 37 9 125281783 125281783 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:125281783C>T uc011lyw.2 + 0 364 c.364C>T c.(364-366)Cgg>Tgg p.R122W NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122G(2) large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 GGCATACGATCGGTATGTGGC 0.433000 58 34 0 0 0.012213 0 0 ACVR1C 130399 broad.mit.edu 37 2 158412824 158412824 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:158412824G>A uc002tzk.4 - 2 568 c.325C>T c.(325-327)Ctt>Ttt p.L109F ACVR1C_uc002tzl.4_Intron|ACVR1C_uc010fof.3_Intron|ACVR1C_uc010foe.3_Missense_Mutation_p.L59F NM_145259 NP_001104501 Q8NER5 ACV1C_HUMAN Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA. 109 apoptosis|cell differentiation|regulation of apoptosis activin receptor complex ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 42 ATGGGTCCAAGTTTTGGGGCA 0.438000 36 17 0 0 0.008871 0 0 CUL7 9820 broad.mit.edu 37 6 43019484 43019484 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:43019484G>A uc003otq.3 - 2 930 c.598C>T c.(598-600)Ctt>Ttt p.L200F CUL7_uc011dvb.2_Missense_Mutation_p.L284F|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA. 200 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 49 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) AGTGACAGAAGGATCTGAGTC 0.498000 40 40 0 0 0.010771 0 0 UBXN10 127733 broad.mit.edu 37 1 20517366 20517366 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:20517366C>T uc001bdb.3 + 1 396 c.312C>T c.(310-312)ccC>ccT p.P104P UBXN10_uc021oia.1_Silent_p.P104P NM_152376 NP_689589 Q96LJ8 UBX10_HUMAN Homo sapiens UBX domain protein 10 (UBXN10), mRNA. 104 endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2) 14 AGCAAGTACCCACTGGGGCTT 0.522000 39 46 0 0 0.014410 0 0 PSG3 5671 broad.mit.edu 37 19 43237165 43237165 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:43237165C>T uc002oue.3 - 2 612 c.480G>A c.(478-480)gaG>gaA p.E160E PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron NM_021016 NP_066296 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA. 160 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CCTCCATGTCCTCCCTGGGGT 0.542000 97 50 0 0 0.014410 0 0 DNAH2 146754 broad.mit.edu 37 17 7662210 7662210 + Missense_Mutation SNP T G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:7662210T>G uc002giu.1 + 13 2230 c.2216T>G c.(2215-2217)aTg>aGg p.M739R NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 739 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TAGGTGCAGATGATTGTGAAT 0.537000 21 6 0 0 0.001168 0 0 CEACAM20 125931 broad.mit.edu 37 19 45028047 45028047 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:45028047C>T uc010ejn.1 - 2 460 c.444G>A c.(442-444)agG>agA p.R148R CEACAM20_uc010ejo.1_Silent_p.R148R|CEACAM20_uc010ejp.1_Silent_p.R148R|CEACAM20_uc010ejq.1_Silent_p.R148R NM_001102597 NP_001096067 Q6UY09 CEA20_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA. 148 Ig-like C2-type 1. integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) TGGGGTCGCTCCTCTGGCTCA 0.537000 107 79 0 0 0.014410 0 0 PGM5P2 595135 broad.mit.edu 37 9 69127002 69127002 + RNA SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:69127002C>T uc004aff.4 - 1 c.565G>A Homo sapiens phosphoglucomutase 5 pseudogene 2 (PGM5P2), non-coding RNA. CCAAACTCTCCCCCTGGTCCT 0.453000 9 6 0 0 0.004482 0 0 PLOD3 8985 broad.mit.edu 37 7 100856396 100856396 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:100856396G>A uc003uyd.3 - 6 1225 c.769C>T c.(769-771)Ccc>Tcc p.P257S NM_001084 NP_001075 O60568 PLOD3_HUMAN Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA. 257 protein modification process rough endoplasmic reticulum membrane L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding p.G256D(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) ACCTTAGTGGGACCGTTTCCA 0.602000 24 5 0 0 0.001984 0 0 TCR-alpha 0 broad.mit.edu 37 14 22433750 22433750 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:22433750G>A uc021rpm.1 + 0 53 c.15G>A c.(13-15)ttG>ttA p.L5L TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron SubName: Full=V-alpha; Flags: Fragment; TGAAATCCTTGAGAGTTTTAC 0.353000 28 14 0 0 0.003163 0 0 ACOX1 51 broad.mit.edu 37 17 73945838 73945838 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:73945838G>A uc002jqe.3 - 9 1800 c.1439C>T c.(1438-1440)cCc>cTc p.P480L ACOX1_uc010wsq.2_Missense_Mutation_p.P442L|ACOX1_uc010wsr.2_Missense_Mutation_p.P412L|ACOX1_uc002jqf.3_Missense_Mutation_p.P480L NM_004035 NP_001171968 Q15067 ACOX1_HUMAN Homo sapiens acyl-CoA oxidase 1, palmitoyl (ACOX1), transcript variant 1, mRNA. 480 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 TAGGCTTTCGGGGCTGTTGAT 0.567000 40 16 0 0 0.003163 0 0 ASXL1 171023 broad.mit.edu 37 20 31024516 31024516 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:31024516C>T uc021wbw.1 + 12 4433 c.4001C>T c.(4000-4002)cCc>cTc p.P1334L ASXL1_uc002wxs.3_Missense_Mutation_p.P1333L|ASXL1_uc010geb.3_Missense_Mutation_p.P1225L NM_015338 NP_056153 Q8IXJ9 ASXL1_HUMAN Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA. 1334 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.(574_1542)fs*?(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 CCAGTTTTTCCCAGTGGGAAG 0.577000 """F, N, Mis""" """MDS, CMML""" 24 17 0 0 0.004990 0 0 FLG 2312 broad.mit.edu 37 1 152277655 152277655 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:152277655G>A uc001ezu.1 - 2 9743 c.9707C>T c.(9706-9708)tCc>tTc p.S3236F NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 3236 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATGGTTTCTGGAAGCAGACCC 0.597000 Ichthyosis 122 53 0 0 0.014410 0 0 KCNJ8 3764 broad.mit.edu 37 12 21918681 21918682 + Missense_Mutation DNP TC GT GT TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:21918681_21918682TC>GT uc001rff.3 - 2 1588_1589 c.1250_1251GA>AC c.(1249-1251)gga>gAC p.G417D NM_004982 NP_004973 Q15842 IRK8_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA. 417 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) TGTTTTGATTTCCTTCTGGAGT 0.426000 46 37 0 0 0.004672 0 0 STRA6 64220 broad.mit.edu 37 15 74476282 74476283 + Missense_Mutation DNP GG AA AA TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:74476282_74476283GG>AA uc002axj.3 - 13 1691_1692 c.1331_1332CC>TT c.(1330-1332)ccc>cTT p.P444L STRA6_uc002axi.3_Missense_Mutation_p.P214L|STRA6_uc010ulh.2_Missense_Mutation_p.P443L|STRA6_uc002axk.3_Missense_Mutation_p.P405L|STRA6_uc002axl.3_Missense_Mutation_p.P337L|STRA6_uc010bji.3_Missense_Mutation_p.P405L|STRA6_uc021sqg.1_Missense_Mutation_p.P420L|STRA6_uc002axm.3_Missense_Mutation_p.P405L|STRA6_uc002axn.3_Missense_Mutation_p.P396L|STRA6_uc010uli.2_Missense_Mutation_p.P442L|STRA6_uc010bjj.1_Non-coding_Transcript NM_001199042 NP_001185971 Q9BX79 STRA6_HUMAN Homo sapiens stimulated by retinoic acid gene 6 homolog (mouse) (STRA6), transcript variant 8, mRNA. 405 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 TCCGATGCAAGGGACTCAAGTC 0.594000 17 21 0 0 0.004672 0 0 LGR4 55366 broad.mit.edu 37 11 27390105 27390105 + Missense_Mutation SNP G C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:27390105G>C uc001mrj.4 - 17 2650 c.2165C>G c.(2164-2166)gCc>gGc p.A722G LGR4_uc001mrk.4_Missense_Mutation_p.A698G NM_018490 NP_060960 Q9BXB1 LGR4_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA. 722 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 GTAGATAACGGCCATTAATAA 0.398000 45 38 0 0 0.007835 0 0 PRKG2 5593 broad.mit.edu 37 4 82125817 82125817 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:82125817G>A uc003hmh.2 - 0 398 c.385C>T c.(385-387)Cca>Tca p.P129S PRKG2_uc011cch.1_Missense_Mutation_p.P129S NM_006259 NP_006250 Q13237 KGP2_HUMAN Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA. 129 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 CGGGTTGTTGGCTCAGCAGAC 0.507000 58 104 0 0 0.014410 0 0 FANCA 2175 broad.mit.edu 37 16 89813022 89813022 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:89813022C>T uc002fou.1 - 34 3525 c.3483G>A c.(3481-3483)acG>acA p.T1161T FANCA_uc010vpn.1_Silent_p.T1161T|FANCA_uc010vpo.2_Silent_p.T247T NM_000135 NP_000126 O15360 FANCA_HUMAN Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA. 1161 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding p.T1161M(2) breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AGGGGCATTTCGTCTGGCACT 0.562000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 25 5 0 0 0.001168 0 0 IMPG1 3617 broad.mit.edu 37 6 76660521 76660521 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:76660521G>A uc003pik.1 - 12 1712 c.1582C>T c.(1582-1584)Cct>Tct p.P528S NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 528 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) GATGGGGCAGGAGTGTCAGAC 0.483000 13 5 0 0 0.000602 0 0 CHRM3 1131 broad.mit.edu 37 1 240071104 240071104 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:240071104G>A uc021plc.1 + 0 353 c.353G>A c.(352-354)gGg>gAg p.G118E CHRM3_uc001hyp.3_Missense_Mutation_p.G118E NM_000740 NP_000731 P20309 ACM3_HUMAN Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA. 118 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CTGATTATCGGGGTCATTTCA 0.478000 24 18 0 0 0.006122 0 0 LAMB4 22798 broad.mit.edu 37 7 107692596 107692596 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:107692596C>T uc010ljo.1 - 25 3946 c.3862G>A c.(3862-3864)Gac>Aac p.D1288N LAMB4_uc003vey.2_Missense_Mutation_p.D1288N|LAMB4_uc010ljp.1_Missense_Mutation_p.D257N NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN Homo sapiens laminin, beta 4 (LAMB4), mRNA. 1288 Domain II. 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 TCCTGAAGGTCTTCAAGTAAG 0.368000 40 52 0 0 0.014410 0 0 NLRP7 199713 broad.mit.edu 37 19 55447766 55447766 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:55447766C>T uc002qih.4 - 5 2239 c.2163G>A c.(2161-2163)cgG>cgA p.R721R NLRP7_uc010esk.3_Silent_p.R721R|NLRP7_uc002qig.4_Silent_p.R693R|NLRP7_uc002qii.4_Silent_p.R721R|NLRP7_uc010esl.3_Silent_p.R749R NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 721 R -> W (in HYDM). ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GACAGAAGTCCCGGTACGCGG 0.507000 34 39 0 0 0.008740 0 0 SSPN 8082 broad.mit.edu 37 12 26383984 26383984 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:26383984C>T uc001rhe.3 + 2 807 c.707C>T c.(706-708)tCc>tTc p.S236F SSPN_uc001rhd.3_Missense_Mutation_p.S133F|SSPN_uc009zjf.2_Intron|SSPN_uc001rhf.3_Intron NM_005086 NP_001129295 Q14714 SSPN_HUMAN Homo sapiens sarcospan (Kras oncogene-associated gene) (SSPN), transcript variant 1, mRNA. 236 cell adhesion|muscle contraction cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 Colorectal(261;0.0847) CTCACGGCTTCCGAAGGCCCC 0.453000 19 7 0 0 0.003080 0 0 TMC5 79838 broad.mit.edu 37 16 19474639 19474639 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:19474639C>T uc002dgc.4 + 6 1935 c.1186C>T c.(1186-1188)Cgt>Tgt p.R396C TMC5_uc010vaq.2_Missense_Mutation_p.R396C|TMC5_uc002dgb.4_Missense_Mutation_p.R396C|TMC5_uc010var.2_Missense_Mutation_p.R396C|TMC5_uc002dgd.1_Missense_Mutation_p.R150C|TMC5_uc002dge.4_Missense_Mutation_p.R150C|TMC5_uc002dgf.4_Missense_Mutation_p.R79C|TMC5_uc002dgg.4_Missense_Mutation_p.R37C NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 396 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ACAGACCCATCGTATCCTTCA 0.408000 22 24 0 0 0.004656 0 0 FES 2242 broad.mit.edu 37 15 91432627 91432627 + Missense_Mutation SNP C G G rs149847085 by1000genomes TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:91432627C>G uc002bpv.3 + 5 879 c.760C>G c.(760-762)Cgc>Ggc p.R254G FES_uc010uqj.2_Missense_Mutation_p.R196G|FES_uc010uqk.2_Missense_Mutation_p.R236G|FES_uc002bpx.3_Missense_Mutation_p.R254G|FES_uc002bpy.3_Missense_Mutation_p.R196G|FES_uc010bny.3_Missense_Mutation_p.R196G NM_002005 NP_001996 P07332 FES_HUMAN Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA. 254 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) AGCTGCTGCCCGCATCCAGCC 0.632000 98 81 0 0 0.014410 0 0 POM121L12 285877 broad.mit.edu 37 7 53103409 53103409 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:53103409C>T uc003tpz.3 + 0 61 c.45C>T c.(43-45)ttC>ttT p.F15F NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA. 15 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 TCGGGAACTTCTGGAAGGCGG 0.706000 5 4 0 0 0.009096 0 0 TNXB 7148 broad.mit.edu 37 6 32036897 32036897 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:32036897C>T uc003nzl.2 - 15 5806 c.5604G>A c.(5602-5604)acG>acA p.T1868T NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 1950 Fibronectin type-III 11. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding p.T1868T(1)|p.T1955T(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 TCTCAGTTTCCGTTTCTTCCC 0.627000 151 31 0 0 0.011902 0 0 TPTE 7179 broad.mit.edu 37 21 10916473 10916473 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr21:10916473C>T uc002yip.1 - 19 1541 c.1173G>A c.(1171-1173)aaG>aaA p.K391K TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Silent_p.K373K|TPTE_uc002yir.1_Silent_p.K353K|TPTE_uc010gkv.1_Silent_p.K253K NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 391 Phosphatase 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) CAACATATCTCTTCTGAAAAG 0.338000 38 20 0 0 0.010504 0 0 GLI2 2736 broad.mit.edu 37 2 121726354 121726354 + Silent SNP C T T rs142322049 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:121726354C>T uc010flp.3 + 4 738 c.708C>T c.(706-708)tcC>tcT p.S236S GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.P107S|GLI2_uc010flo.1_Silent_p.S111S|GLI2_uc002tmw.1_Silent_p.S236S NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 236 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) TGTCCATCTCCCCACTCTCAG 0.637000 41 26 0 0 0.006320 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209950801 209950801 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:209950801C>T uc001hho.3 + 11 1578 c.1158C>T c.(1156-1158)gaC>gaT p.D386D TRAF3IP3_uc001hhm.2_Intron|TRAF3IP3_uc001hhn.3_Silent_p.D366D|TRAF3IP3_uc009xcr.3_Silent_p.D386D NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA. 386 integral to membrane protein binding breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 OV - Ovarian serous cystadenocarcinoma(81;0.045) GGGACAGAGACCTGTGCAGCT 0.512000 27 10 0 0 0.008291 0 0 CD163 9332 broad.mit.edu 37 12 7635291 7635291 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:7635291G>A uc001qsz.3 - 13 3323 c.3195C>T c.(3193-3195)ttC>ttT p.F1065F CD163_uc001qta.3_Silent_p.F1065F|CD163_uc009zfw.2_Silent_p.F1098F NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 1065 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 ATAATGCGACGAAAATGGCCA 0.423000 58 53 0 0 0.014410 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813339 24813339 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr10:24813339C>T uc001iru.4 + 12 2947 c.2544C>T c.(2542-2544)gtC>gtT p.V848V KIAA1217_uc001irs.3_Silent_p.V768V|KIAA1217_uc001irt.4_Silent_p.V813V|KIAA1217_uc010qcy.2_Silent_p.V813V|KIAA1217_uc010qcz.2_Silent_p.V813V|KIAA1217_uc001irv.1_Silent_p.V663V|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Silent_p.V531V|KIAA1217_uc001irz.3_Silent_p.V531V|KIAA1217_uc001irx.3_Silent_p.V531V|KIAA1217_uc001iry.3_Silent_p.V531V NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 848 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CCGCAGAAGTCCTGAAGAGTC 0.607000 8 31 0 0 0.009535 0 0 SLC9C2 284525 broad.mit.edu 37 1 173567103 173567103 + Missense_Mutation SNP T A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:173567103T>A uc001giz.2 - 3 720 c.297A>T c.(295-297)ttA>ttT p.L99F SLC9C2_uc010pmq.1_Non-coding_Transcript NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA. 99 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TAAATATAATTAAAGGTGAAA 0.303000 69 47 0 0 0.014410 0 0 SAMD12 401474 broad.mit.edu 37 8 119391770 119391770 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:119391770C>T uc003yom.2 - 3 621 c.492G>A c.(490-492)atG>atA p.M164I SAMD12_uc010mda.1_Intron|SAMD12_uc010mdb.1_Intron NM_207506 NP_997389 Q8N8I0 SAM12_HUMAN Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA. 164 endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) TCTCCCCATCCATCCACCCAT 0.423000 32 31 0 0 0.009535 0 0 KLRC2 3822 broad.mit.edu 37 12 10571009 10571009 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:10571009C>T uc001qyi.1 - 3 465 c.420G>A c.(418-420)gaG>gaA p.E140E KLRC2_uc001qyf.3_Silent_p.E140E|KLRC2_uc021qvc.1_Silent_p.E140E|KLRC2_uc001qyh.3_Silent_p.E140E|KLRC2_uc021qvd.1_Silent_p.E140E NM_007333 NP_031359 P26717 NKG2C_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA. 140 C-type lectin. cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 CCTGCAAACTCTCTTCCCAAG 0.353000 89 23 0 0 0.006320 0 0 PLEKHG5 57449 broad.mit.edu 37 1 6527632 6527632 + Splice_Site SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:6527632C>T uc001anp.1 - 22 3741 c.3243_splice c.e22-1 p.S1081_splice PLEKHG5_uc001ann.1_Splice_Site_p.S1041_splice|PLEKHG5_uc001ano.1_Splice_Site_p.S1060_splice|PLEKHG5_uc001anq.1_Splice_Site_p.S850_splice|TNFRSF25_uc001ana.3_5'Flank|TNFRSF25_uc001anb.3_5'Flank|TNFRSF25_uc001anc.3_5'Flank|TNFRSF25_uc001and.3_5'Flank|TNFRSF25_uc009vlz.3_5'Flank|TNFRSF25_uc001ane.3_5'Flank|TNFRSF25_uc001anf.3_5'Flank|TNFRSF25_uc001ang.3_5'Flank|TNFRSF25_uc001anh.3_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Splice_Site_p.S565_splice|PLEKHG5_uc009vma.1_Splice_Site_p.S844_splice|PLEKHG5_uc010nzr.1_Splice_Site_p.S1073_splice|PLEKHG5_uc001ank.1_Splice_Site_p.S1004_splice|PLEKHG5_uc009vmb.1_Splice_Site|PLEKHG5_uc001anl.1_Splice_Site_p.S1004_splice|PLEKHG5_uc001anm.1_Splice_Site_p.S1004_splice NM_198681 NP_065682 O94827 PKHG5_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA. 1060 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CTCAGACCTCCCTACAGGGTG 0.632000 88 22 0 0 0.004656 0 0 FAM135B 51059 broad.mit.edu 37 8 139163712 139163712 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:139163712C>T uc003yuy.3 - 12 3177 c.3006G>A c.(3004-3006)gaG>gaA p.E1002E FAM135B_uc003yux.3_Silent_p.E903E|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.E564E|FAM135B_uc003yvb.3_Silent_p.E564E NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1002 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) CTGCCTTCAGCTCTTGGTTTT 0.507000 HNSCC(54;0.14) 39 15 0 0 0.002450 0 0 EPHA6 285220 broad.mit.edu 37 3 97194224 97194224 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:97194224G>A uc010how.1 + 7 1966 c.1923G>A c.(1921-1923)caG>caA p.Q641Q EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Silent_p.Q7Q|EPHA6_uc003drs.4_Silent_p.Q33Q|EPHA6_uc003drr.4_Silent_p.Q33Q|EPHA6_uc003drt.3_Silent_p.Q33Q|EPHA6_uc010hox.1_Non-coding_Transcript NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA. 546 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity p.E641K(2) NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 AACAAGGACAGATTCTCGTGA 0.413000 12 19 0 0 0.010504 0 0 AKNA 80709 broad.mit.edu 37 9 117099518 117099518 + Missense_Mutation SNP G T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:117099518G>T uc004biq.3 - 20 4271 c.4136C>A c.(4135-4137)cCa>cAa p.P1379Q AKNA_uc004bin.3_Missense_Mutation_p.P626Q|AKNA_uc004bio.3_Missense_Mutation_p.P839Q|AKNA_uc004bip.3_Missense_Mutation_p.P1298Q|AKNA_uc004bir.3_Missense_Mutation_p.P1379Q|AKNA_uc004bis.3_Missense_Mutation_p.P1379Q|AKNA_uc010mve.2_Missense_Mutation_p.P1260Q NM_030767 NP_110394 Q7Z591 AKNA_HUMAN Homo sapiens AT-hook transcription factor (AKNA), mRNA. 1379 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2) 51 CCGGGCTGGTGGGGGAGAGGC 0.657000 27 14 3.51602e-12 5.69907e-12 0.008871 1 0 SNAPC4 6621 broad.mit.edu 37 9 139272358 139272358 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:139272358G>A uc004chh.3 - 20 3930 c.3921C>T c.(3919-3921)gcC>gcT p.A1307A NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA. 1307 SNAPC2-binding. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GGCTGCACAGGGCTGGGGGCT 0.706000 26 12 0 0 0.013537 0 0 GALNT12 79695 broad.mit.edu 37 9 101597641 101597641 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:101597641C>T uc004ayz.3 + 4 1028 c.1028C>T c.(1027-1029)tCc>tTc p.S343F NM_024642 NP_078918 Q8IXK2 GLT12_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA. 343 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(62;0.0559) CTCGAATTTTCCTTTAGGGTA 0.423000 58 27 0 0 0.010818 0 0 C15orf2 23742 broad.mit.edu 37 15 24922388 24922388 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:24922388C>T uc001ywo.3 + 0 1848 c.1374C>T c.(1372-1374)atC>atT p.I458I NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 458 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis p.T457P(1) 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) CATTCACAATCCCTAACTCTC 0.498000 43 24 0 0 0.002780 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68221874 68221874 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:68221874T>C uc001xka.2 - 36 7019 c.6880A>G c.(6880-6882)Aag>Gag p.K2294E ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkb.3_Missense_Mutation_p.K140E NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 2294 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) TCCTTGGCCTTAAGTAGCCAT 0.478000 41 15 0 0 0.003163 0 0 DLGAP1 9229 broad.mit.edu 37 18 3567488 3567488 + Splice_Site SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr18:3567488C>T uc002kmf.3 - 9 2584 c.2057_splice c.e9+1 p.C686_splice DLGAP1_uc010wyz.2_Splice_Site_p.C686_splice|DLGAP1_uc010dkn.3_Splice_Site_p.C394_splice|DLGAP1_uc002kme.2_Splice_Site_p.C384_splice|DLGAP1_uc010wyw.2_Splice_Site_p.C392_splice|DLGAP1_uc010wyx.2_Splice_Site_p.C408_splice|DLGAP1_uc010wyy.2_Splice_Site_p.C370_splice|DLGAP1_uc002kmg.3_Splice_Site_p.C384_splice NM_004746 NP_004737 O14490 DLGP1_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA. 686 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GTGGACTTACCACTTCTCTTC 0.418000 22 61 0 0 0.014410 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138444552 138444552 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:138444552C>T uc003vuf.3 - 6 822 c.584G>A c.(583-585)gGa>gAa p.G195E ATP6V0A4_uc003vug.3_Missense_Mutation_p.G195E|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.G195E NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 195 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTACACGTTTCCTCGGCAGAT 0.527000 21 27 0 0 0.007291 0 0 HPD 3242 broad.mit.edu 37 12 122295687 122295688 + Missense_Mutation DNP GG AA AA TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:122295687_122295688GG>AA uc001ubj.3 - 2 108_109 c.68_69CC>TT c.(67-69)acc>aTT p.T23I HPD_uc001ubk.3_5'UTR NM_002150 NP_001165464 P32754 HPPD_HUMAN Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA. 23 L-phenylalanine catabolic process|tyrosine catabolic process cytosol 4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1) 18 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225) Nitisinone(DB00348) CAACCCAGAAGGTCACAGAGTG 0.599000 13 9 0 0 0.004672 0 0 MAPK3 5595 broad.mit.edu 37 16 30129013 30129013 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:30129013C>T uc002dws.3 - 4 853 c.753G>A c.(751-753)ctG>ctA p.L251L BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Silent_p.L137L|MAPK3_uc002dwv.4_Silent_p.L251L|MAPK3_uc002dwt.3_Silent_p.L251L NM_002746 NP_002737 P27361 MK03_HUMAN Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA. 251 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter cytosol|nucleoplasm ATP binding|MAP kinase activity|phosphatase binding Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605) TGAGCTGATCCAGGTAGTGCT 0.562000 49 12 0 0 0.004007 0 0 ZFPL1 7542 broad.mit.edu 37 11 64855563 64855563 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:64855563C>T uc001ocq.1 + 7 1075 c.910C>T c.(910-912)Cac>Tac p.H304Y NM_006782 NP_006773 O95159 ZFPL1_HUMAN Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA. 304 regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 CATGAACCCTCACATCCGCGT 0.657000 50 15 0 0 0.004007 0 0 OR6S1 341799 broad.mit.edu 37 14 21109567 21109567 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:21109567G>A uc001vxv.1 - 0 284 c.284C>T c.(283-285)tCc>tTc p.S95F NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA. 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S95F(2) kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TGCAGCAAAGGAAATAGTGTG 0.468000 33 18 0 0 0.014323 0 0 COL4A2 1284 broad.mit.edu 37 13 111088659 111088659 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr13:111088659C>T uc001vqx.3 + 12 1059 c.770C>T c.(769-771)aCc>aTc p.T257I NM_001846 NP_001837 P08572 CO4A2_HUMAN Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA. 257 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CCATCAGACACCCTCCACCCC 0.458000 14 17 0 0 0.012319 0 0 APOB 338 broad.mit.edu 37 2 21241968 21241968 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:21241968C>T uc002red.3 - 19 3145 c.3017G>A c.(3016-3018)aGg>aAg p.R1006K NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1006 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCCTGTAGGCCTCAGTTCCAG 0.438000 179 114 0 0 0.014410 0 0 DMXL1 1657 broad.mit.edu 37 5 118576136 118576136 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:118576136C>T uc010jcl.1 + 41 8855 c.8674C>T c.(8674-8676)Ctt>Ttt p.L2892F DMXL1_uc003ksd.2_Missense_Mutation_p.L2871F|DMXL1_uc021ycw.1_Missense_Mutation_p.L2698F|DMXL1_uc010jcm.1_Non-coding_Transcript|DMXL1_uc003kse.1_Missense_Mutation_p.L45F NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Homo sapiens Dmx-like 1 (DMXL1), mRNA. 2871 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GTGGGATACTCTTGTAGCACC 0.289000 43 42 0 0 0.014410 0 0 NAV3 89795 broad.mit.edu 37 12 78513028 78513028 + Missense_Mutation SNP G C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:78513028G>C uc001syp.3 + 14 3225 c.3052G>C c.(3052-3054)Gat>Cat p.D1018H NAV3_uc001syo.3_Missense_Mutation_p.D1018H|NAV3_uc010sub.2_Missense_Mutation_p.D518H|NAV3_uc009zsf.3_Missense_Mutation_p.D26H NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 1018 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity p.D1017N(1) NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GAAAACCGATGATGCCAAAGC 0.388000 HNSCC(70;0.22) 78 12 0 0 0.003163 0 0 BRD4 23476 broad.mit.edu 37 19 15350808 15350809 + Missense_Mutation DNP CG GC GC TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:15350808_15350809CG>GC uc002nar.3 - 14 3416_3417 c.3194_3195CG>GC c.(3193-3195)ccg>cGC p.P1065R NM_058243 NP_490597 O60885 BRD4_HUMAN Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. 1065 interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) GTATCATAAGCGGGGAGGGGGC 0.564000 T C15orf55 lethal midline carcinoma of young people 27 6 0 0 0.004672 0 0 MAP2 4133 broad.mit.edu 37 2 210560314 210560314 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:210560314C>T uc002vde.1 + 6 3668 c.3420C>T c.(3418-3420)ctC>ctT p.L1140L MAP2_uc002vdc.1_Silent_p.L1140L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.L1136L NM_002374 NP_002365 P11137 MAP2_HUMAN Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA. 1140 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) ATGAAAGTCTCACCATGGAGT 0.463000 14 23 0 0 0.003330 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25251757 25251757 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:25251757G>A uc002dod.4 - 6 2691 c.2284C>T c.(2284-2286)Cgt>Tgt p.R762C ZKSCAN2_uc010vcl.2_Missense_Mutation_p.R558C NM_001012981 NP_001012999 Q63HK3 ZKSC2_HUMAN Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA. 762 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) CACATCAGACGAGTGCTCCTT 0.502000 29 12 0 0 0.010729 0 0 CLEC4G 339390 broad.mit.edu 37 19 7796641 7796641 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:7796641C>T uc002mhp.4 - 1 141 c.72G>A c.(70-72)tgG>tgA p.W24* CLEC4G_uc021uny.1_Nonsense_Mutation_p.W12* NM_198492 NP_940894 Q6UXB4 CLC4G_HUMAN Homo sapiens C-type lectin domain family 4, member G (CLEC4G), transcript variant 1, mRNA. 24 integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 TCCAGTGCACCCAGCGTCCCC 0.587000 14 7 0 0 0.001984 0 0 PLAC8L1 153770 broad.mit.edu 37 5 145483828 145483828 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:145483828G>A uc003lnv.3 - 0 119 c.47C>T c.(46-48)tCc>tTc p.S16F PLAC8L1_uc021yfd.1_Non-coding_Transcript|PLAC8L1_uc011dbp.2_Non-coding_Transcript|Mir_584_uc021yfe.1_5'Flank NM_001029869 NP_001025040 A1L4L8 PL8L1_HUMAN Homo sapiens PLAC8-like 1 (PLAC8L1), mRNA. 16 autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2) 10 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTTGAGTAAGGAAAGATCCTC 0.398000 21 8 0 0 0.004482 0 0 OR52K1 390036 broad.mit.edu 37 11 4510907 4510907 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:4510907C>T uc001lza.2 + 0 799 c.777C>T c.(775-777)atC>atT p.I259I NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA. 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I259I(2) 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) CAGTAGTCATCTCTTCAGTCA 0.527000 61 41 0 0 0.014410 0 0 IQCA1 79781 broad.mit.edu 37 2 237276886 237276886 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:237276886G>A uc002vwb.2 - 13 1678 c.1644C>T c.(1642-1644)tcC>tcT p.S548S IQCA1_uc002vvz.1_Silent_p.S540S|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.S499S NM_024726 NP_079002 Q86XH1 IQCA1_HUMAN Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA. 540 ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 CATCCAGGAGGGAGGGCATGG 0.517000 7 4 0 0 0.000602 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526248 176526248 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:176526248T>C uc001gkz.3 + 1 1954 c.790T>C c.(790-792)Tac>Cac p.Y264H PAPPA2_uc001gky.1_Missense_Mutation_p.Y264H|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 264 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 GCCCATCTTATACTTCTCTGG 0.572000 25 12 0 0 0.013537 0 0 HDC 3067 broad.mit.edu 37 15 50535050 50535050 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:50535050G>A uc001zxz.3 - 11 1738 c.1396C>T c.(1396-1398)Ctc>Ttc p.L466F HDC_uc001zxy.3_Missense_Mutation_p.L209F|HDC_uc010uff.2_Missense_Mutation_p.L433F NM_002112 NP_002103 P19113 DCHS_HUMAN Homo sapiens histidine decarboxylase (HDC), mRNA. 466 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) TCTCGAATGAGATTCCAGTCT 0.527000 13 9 0 0 0.006214 0 0 C12orf50 160419 broad.mit.edu 37 12 88381713 88381713 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:88381713G>A uc001tam.1 - 8 899 c.731C>T c.(730-732)tCc>tTc p.S244F C12orf50_uc001tan.3_Intron NM_152589 NP_689802 Q8NA57 CL050_HUMAN Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA. 244 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 GGTAGTTAGGGAATGCTTTGG 0.343000 30 19 0 0 0.002780 0 0 COL22A1 169044 broad.mit.edu 37 8 139626153 139626153 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:139626153C>T uc003yvd.3 - 55 4382 c.3935G>A c.(3934-3936)gGa>gAa p.G1312E COL22A1_uc011ljo.2_Missense_Mutation_p.G592E NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 1312 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCCAGTGGGTCCAGTGTCACC 0.498000 HNSCC(7;0.00092) 66 37 0 0 0.008740 0 0 ROMO1 140823 broad.mit.edu 37 20 34288725 34288725 + Missense_Mutation SNP G T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:34288725G>T uc002xdy.3 + 2 284 c.137G>T c.(136-138)gGa>gTa p.G46V NFS1_uc002xdt.2_5'Flank|NFS1_uc010zvl.2_5'Flank|NFS1_uc010zvk.2_5'Flank|NFS1_uc002xdw.2_5'Flank|NFS1_uc002xdx.3_5'Flank|ROMO1_uc010gfm.3_Missense_Mutation_p.G46V NM_080748 NP_542786 P60602 ROMO1_HUMAN Homo sapiens reactive oxygen species modulator 1 (ROMO1), nuclear gene encoding mitochondrial protein, mRNA. 46 cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging integral to membrane|mitochondrial membrane cervix(1) 1 CTCAGGATCGGAATGCGGGGT 0.483000 56 17 9.16793e-09 1.47967e-08 0.004990 1 0 HCAR2 338442 broad.mit.edu 37 12 123187700 123187700 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:123187700C>T uc001ucx.1 - 0 205 c.131G>A c.(130-132)gGc>gAc p.G44D HCAR1_uc001ucw.1_Intron NM_177551 NP_808219 Q8TDS4 HCAR2_HUMAN Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA. 44 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) AAGGCCATTGCCCAGAAGCCC 0.507000 12 13 0 0 0.002450 0 0 BRF1 2972 broad.mit.edu 37 14 105684023 105684023 + Missense_Mutation SNP G C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:105684023G>C uc001yqp.2 - 14 1993 c.1630C>G c.(1630-1632)Cgg>Ggg p.R544G BRF1_uc010tyo.1_Missense_Mutation_p.R429G|BRF1_uc010typ.1_Missense_Mutation_p.R451G|BRF1_uc001yqk.2_Missense_Mutation_p.R70G|BRF1_uc001yql.2_Missense_Mutation_p.R340G|BRF1_uc001yqo.2_Missense_Mutation_p.R306G|BRF1_uc010axg.1_Missense_Mutation_p.R517G|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_Missense_Mutation_p.R70G NM_001519 NP_663718 Q92994 TF3B_HUMAN Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA. 544 positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) CTGAGGCCCCGGAGCACGCTA 0.637000 3 5 0 0 0.001168 0 0 ZNF205 7755 broad.mit.edu 37 16 3169264 3169264 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:3169264C>T uc002cub.3 + 6 738 c.603C>T c.(601-603)gtC>gtT p.V201V ZNF205_uc002cua.3_Silent_p.V201V NM_001042428 NP_003447 O95201 ZN205_HUMAN Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA. 201 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 CAGGAGCCGTCGAGGTGGGGC 0.617000 36 12 0 0 0.004007 0 0 OR2M3 127062 broad.mit.edu 37 1 248366744 248366744 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:248366744C>T uc010pzg.2 + 0 375 c.375C>T c.(373-375)gcC>gcT p.A125A NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCTACACTGCCATTTGCCACC 0.443000 171 26 0 0 0.004656 0 0 SLC22A6 9356 broad.mit.edu 37 11 62747339 62747339 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:62747339G>A uc001nwk.3 - 6 1452 c.1119C>T c.(1117-1119)atC>atT p.I373I SLC22A6_uc001nwl.3_Silent_p.I373I|SLC22A6_uc001nwj.3_Silent_p.I373I|SLC22A6_uc001nwm.3_Silent_p.I373I NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA. 373 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding p.I373I(2) 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 CAGCACCAAAGATCACCTGGA 0.572000 30 12 0 0 0.010729 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261885 125261885 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:125261885C>T uc010flu.3 + 7 1443 c.1079C>T c.(1078-1080)tCc>tTc p.S360F CNTNAP5_uc002tno.3_Missense_Mutation_p.S359F NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 359 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding p.C360F(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GTCACTTTTTCCTGCTCCGAA 0.463000 48 21 0 0 0.002780 0 0 DISC1 27185 broad.mit.edu 37 1 231954099 231954099 + Missense_Mutation SNP A T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:231954099A>T uc010pxh.2 + 9 1966 c.1913A>T c.(1912-1914)gAc>gTc p.D638V DISC1_uc010pwj.1_Missense_Mutation_p.D595V|DISC1_uc010pwk.1_Missense_Mutation_p.T561S|DISC1_uc010pwg.1_Missense_Mutation_p.D595V|DISC1_uc010pwh.1_Missense_Mutation_p.D561V|DISC1_uc010pwi.1_Missense_Mutation_p.D561V|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwr.1_Missense_Mutation_p.D606V|DISC1_uc010pws.1_Missense_Mutation_p.T572S|DISC1_uc010pwt.1_3'UTR|DISC1_uc010pwu.1_3'UTR|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.D606V|DISC1_uc001huy.3_Missense_Mutation_p.D606V|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.D606V|DISC1_uc010pxc.1_Intron|DISC1_uc010pxe.2_Missense_Mutation_p.D606V|DISC1_uc010pxf.2_Missense_Mutation_p.D606V|DISC1_uc010pxg.2_Intron|DISC1_uc010pxd.2_Missense_Mutation_p.D251V|DISC1_uc009xfr.3_Missense_Mutation_p.D561V|DISC1_uc010pxn.1_Missense_Mutation_p.D251V|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Missense_Mutation_p.D251V|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.D484V|DISC1_uc001huz.3_Missense_Mutation_p.D606V|DISC1_uc001hva.3_Missense_Mutation_p.D606V|DISC2_uc001hvd.3_Non-coding_Transcript NM_001164537 NP_001158009 Q9NRI5 DISC1_HUMAN Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA. 606 Interaction with ATF4 and ATF5.|Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome. Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) ACGGCTAAAGACCTCACCGAG 0.483000 31 30 0 0 0.010818 0 0 TIRAP 114609 broad.mit.edu 37 11 126162942 126162942 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:126162942T>C uc001qdl.1 + 4 1090 c.638T>C c.(637-639)gTc>gCc p.V213A TIRAP_uc009zcb.1_Missense_Mutation_p.V213A|TIRAP_uc001qdm.1_Missense_Mutation_p.V213A|TIRAP_uc001qdn.1_Missense_Mutation_p.V213A|TIRAP_uc001qdo.1_Missense_Mutation_p.V213A NM_148910 NP_683708 P58753 TIRAP_HUMAN Homo sapiens toll-interleukin 1 receptor (TIR) domain containing adaptor protein (TIRAP), transcript variant 2, mRNA. 213 TIR. 3'-UTR-mediated mRNA stabilization|MyD88-dependent toll-like receptor signaling pathway|TIRAP-dependent toll-like receptor 4 signaling pathway|Toll signaling pathway|cellular response to bacterial lipopeptide|cellular response to lipoteichoic acid|defense response to Gram-positive bacterium|inflammatory response|innate immune response|myeloid cell differentiation|negative regulation of growth of symbiont in host|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine (C-X-C motif) ligand 1 production|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of interleukin-12 production|positive regulation of interleukin-15 production|positive regulation of interleukin-6 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of neutrophil chemotaxis|positive regulation of protein homodimerization activity|positive regulation of toll-like receptor 2 signaling pathway|positive regulation of toll-like receptor 3 signaling pathway|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|regulation of interferon-beta production|response to lipopolysaccharide|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway endocytic vesicle|intrinsic to membrane|ruffle membrane Toll-like receptor 2 binding|Toll-like receptor 4 binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|protein heterodimerization activity|protein homodimerization activity|protein kinase C delta binding|transmembrane receptor activity breast(1)|endometrium(1)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 6 all_hematologic(175;0.145) Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0739) AAAGAAGCTGTCATGCGTTGT 0.527000 8 14 0 0 0.003163 0 0 WDR67 93594 broad.mit.edu 37 8 124117616 124117616 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:124117616G>A uc003ypp.2 + 7 1211 c.1121G>A c.(1120-1122)aGa>aAa p.R374K WDR67_uc011lig.2_Missense_Mutation_p.R374K|WDR67_uc011lih.2_Missense_Mutation_p.R264K|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_Missense_Mutation_p.R87K NM_145647 NP_663622 Q96DN5 WDR67_HUMAN Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA. 374 centrosome Rab GTPase activator activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) ACATCAGGGAGAGTACAGCAG 0.358000 19 14 0 0 0.002450 0 0 DSG3 1830 broad.mit.edu 37 18 29040811 29040811 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr18:29040811C>T uc002kws.3 + 6 809 c.700C>T c.(700-702)Cgt>Tgt p.R234C NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 234 Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TAGCAGCTATCGTCTGGTTGT 0.338000 6 19 0 0 0.012319 0 0 LRRK1 79705 broad.mit.edu 37 15 101593484 101593484 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:101593484C>T uc002bwr.3 + 25 4232 c.3913C>T c.(3913-3915)Cgg>Tgg p.R1305W LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA. 1305 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTCCGAGTTCCGGCAGGAGGC 0.662000 15 8 0 0 0.003080 0 0 TMEM67 91147 broad.mit.edu 37 8 94828667 94828667 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:94828667G>A uc011lgk.2 + 27 3046 c.2975G>A c.(2974-2976)aGa>aAa p.R992K TMEM67_uc003yga.4_Missense_Mutation_p.R911K|TMEM67_uc011lgl.2_Missense_Mutation_p.R391K NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA. 992 ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GTGGATCAAAGATTTTTGATT 0.274000 62 37 0 0 0.006999 0 0 SEZ6L 23544 broad.mit.edu 37 22 26743711 26743711 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr22:26743711G>A uc003acb.3 + 10 2435 c.2239G>A c.(2239-2241)Gat>Aat p.D747N SEZ6L_uc003acd.3_Missense_Mutation_p.D747N|SEZ6L_uc011akd.2_Missense_Mutation_p.D747N|SEZ6L_uc003ace.3_Missense_Mutation_p.D747N|SEZ6L_uc011akc.2_Missense_Mutation_p.D747N|SEZ6L_uc003acc.3_Missense_Mutation_p.D747N|SEZ6L_uc003acf.1_Missense_Mutation_p.D520N|SEZ6L_uc010gvc.1_Missense_Mutation_p.D520N|SEZ6L_uc011ake.2_Non-coding_Transcript NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA. 747 Sushi 3. endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CTCCTGCTCGGATTTACCCGA 0.512000 8 46 0 0 0.014410 0 0 SETDB1 9869 broad.mit.edu 37 1 150921900 150921900 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:150921900C>T uc001evu.2 + 11 1669 c.1479C>T c.(1477-1479)tcC>tcT p.S493S SETDB1_uc009wmf.2_Silent_p.S494S|SETDB1_uc001evv.2_Silent_p.S493S|SETDB1_uc009wmg.2_Silent_p.S493S NM_001145415 NP_001138887 Q15047 SETB1_HUMAN Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA. 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|chromosome|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) AGAGCACGTCCTTTCGACCAG 0.498000 79 41 0 0 0.011902 0 0 TMEM120B 144404 broad.mit.edu 37 12 122209433 122209433 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:122209433C>T uc001ubc.4 + 7 801 c.657C>T c.(655-657)ttC>ttT p.F219F TMEM120B_uc009zxh.3_Silent_p.F219F NM_001080825 NP_001074294 A0PK00 T120B_HUMAN Homo sapiens transmembrane protein 120B (TMEM120B), mRNA. 219 integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) GCAACCAGTTCTTAGCATTTT 0.483000 26 28 0 0 0.008361 0 0 DNAJC6 9829 broad.mit.edu 37 1 65860679 65860679 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:65860679C>T uc001dce.1 + 12 2203 c.2002C>T c.(2002-2004)Ctc>Ttc p.L668F DNAJC6_uc001dcd.1_Missense_Mutation_p.L611F|DNAJC6_uc010opc.1_Missense_Mutation_p.L598F NM_014787 NP_055602 O75061 AUXI_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA. 611 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 TGACCCCTTTCTCCAGCCAAC 0.443000 105 33 0 0 0.003755 0 0 KIAA1958 158405 broad.mit.edu 37 9 115422088 115422088 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:115422088C>T uc011lwx.1 + 4 2149 c.1974C>T c.(1972-1974)taC>taT p.Y658Y KIAA1958_uc004bgf.1_Silent_p.Y630Y NM_133465 NP_597722 Q8N8K9 K1958_HUMAN Homo sapiens KIAA1958 (KIAA1958), mRNA. 630 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 AGTGCCCTTACTGCCTCCTCT 0.597000 7 7 0 0 0.001984 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881545 228881545 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:228881545G>A uc002vpq.2 - 6 4072 c.4025C>T c.(4024-4026)tCg>tTg p.S1342L SPHKAP_uc002vpp.2_Missense_Mutation_p.S1342L|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1342L NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1342 cytoplasm protein binding p.P1341R(1) 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) CTCTGCTTGCGAGGGAGAGCC 0.522000 31 16 0 0 0.003163 0 0 CSMD2 114784 broad.mit.edu 37 1 34189828 34189828 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:34189828G>A uc001bxm.1 - 18 3147 c.2970C>T c.(2968-2970)tgC>tgT p.C990C CSMD2_uc001bxn.1_Silent_p.C950C NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 950 CUB 6. integral to membrane|plasma membrane protein binding 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) TAATCCAGGTGCAGTTCAAGT 0.527000 68 10 0 0 0.010729 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444330 5444330 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:5444330G>A uc010qzd.2 + 0 990 c.900G>A c.(898-900)caG>caA p.Q300Q HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA. 300 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGAACAAGCAGATCCAATGGG 0.423000 27 19 0 0 0.007413 0 0 HBG1 3047 broad.mit.edu 37 11 5275617 5275617 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:5275617C>T uc001mai.1 - 1 657 c.220G>A c.(220-222)Gat>Aat p.D74N HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.D74N NM_000559 NP_000550 P69891 HBG1_HUMAN Homo sapiens hemoglobin, gamma A (HBG1), mRNA. 74 D -> H (in Xin-su).|D -> N (in Forest Park; associated with T-76). blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding large_intestine(1)|lung(3)|skin(1) 5 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTTATGGCATCTCCCAAGGAA 0.527000 103 47 0 0 0.014410 0 0 NLRP9 338321 broad.mit.edu 37 19 56244857 56244857 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:56244857C>T uc002qly.3 - 1 368 c.340G>A c.(340-342)Gaa>Aaa p.E114K NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 114 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AGACAGGTTTCCTTCTCCCAT 0.378000 63 29 0 0 0.003755 0 0 CD163L1 283316 broad.mit.edu 37 12 7510023 7510023 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:7510023G>A uc010sge.2 - 18 4395 c.4369C>T c.(4369-4371)Cct>Tct p.P1457S CD163L1_uc001qsy.3_Missense_Mutation_p.P1447S NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 1447 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TCAGAGGCAGGAAGAACTCCC 0.413000 53 18 0 0 0.012319 0 0 DNAH5 1767 broad.mit.edu 37 5 13763005 13763005 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:13763005G>A uc003jfd.2 - 59 10149 c.10107C>T c.(10105-10107)ttC>ttT p.F3369F DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3369 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.F3369L(2) 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) TGTCTTTTGGGAATTGCTATG 0.368000 Kartagener syndrome 8 51 0 0 0.014410 0 0 MUC15 143662 broad.mit.edu 37 11 26586936 26586936 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:26586936G>A uc001mqw.3 - 2 824 c.551C>T c.(550-552)aCc>aTc p.T184I ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.T157I|MUC15_uc001mqy.3_Missense_Mutation_p.T184I NM_001135091 NP_663625 Q8N387 MUC15_HUMAN Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA. 157 I -> T (in dbSNP:rs2292290). extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 AGTTTTCACGGTGTCATTGAC 0.458000 37 15 0 0 0.003163 0 0 CD1B 910 broad.mit.edu 37 1 158300748 158300748 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:158300748G>A uc001frx.3 - 1 274 c.166C>T c.(166-168)Cat>Tat p.H56Y CD1B_uc001frw.3_Missense_Mutation_p.H56Y|CD1B_uc010pic.1_Missense_Mutation_p.H56Y NM_001764 NP_001755 P29016 CD1B_HUMAN Homo sapiens CD1b molecule (CD1B), mRNA. 56 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) TCCCAGCCATGAATCTGCAAA 0.493000 200 102 0 0 0.014410 0 0 FAM47B 170062 broad.mit.edu 37 X 34961290 34961290 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:34961290G>A uc004ddi.2 + 0 378 c.342G>A c.(340-342)cgG>cgA p.R114R NM_152631 NP_689844 Q8NA70 FA47B_HUMAN Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA. 114 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AGCCAGCACGGAAGGCGTTCG 0.532000 26 31 0 0 0.010818 0 0 EPPK1 83481 broad.mit.edu 37 8 144945562 144945562 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:144945562G>A uc003zaa.1 - 0 1873 c.1860C>T c.(1858-1860)tcC>tcT p.S620S NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 620 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) GGCGTTCCTGGGAGCCAGGGA 0.647000 8 9 0 0 0.004482 0 0 KLHL22 84861 broad.mit.edu 37 22 20796379 20796379 + Missense_Mutation SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr22:20796379T>C uc002zsl.2 - 6 2043 c.1886A>G c.(1885-1887)gAc>gGc p.D629G KLHL22_uc011ahr.2_Missense_Mutation_p.D486G NM_032775 NP_116164 Q53GT1 KLH22_HUMAN Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA. 629 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) ACTGGAGTTGTCAAACTCCTC 0.642000 28 5 0 0 0.001168 0 0 IL28RA 163702 broad.mit.edu 37 1 24484058 24484058 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:24484058G>A uc001bis.3 - 6 1152 c.1125C>T c.(1123-1125)gtC>gtT p.V375V IL28RA_uc001bir.3_Silent_p.V346V|IL28RA_uc001bit.3_3'UTR|IL28RA_uc001biu.3_Silent_p.V291V NM_170743 NP_734464 Q8IU57 I28RA_HUMAN Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA. 375 cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host interleukin-28 receptor complex protein binding|receptor activity autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4) 16 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185) CTTCGCTTGGGACCAGAGGAG 0.622000 15 18 0 0 0.004990 0 0 LILRB2 10288 broad.mit.edu 37 19 54782706 54782706 + Missense_Mutation SNP A C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:54782706A>C uc002qfb.3 - 5 1182 c.916T>G c.(916-918)Tgc>Ggc p.C306G LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.C306G|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.C306G|LILRB2_uc010yet.2_Missense_Mutation_p.C190G|LILRB2_uc010yeu.1_Non-coding_Transcript NM_005874 NP_005865 Q8N423 LIRB2_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA. 306 Ig-like C2-type 3. C -> W (in dbSNP:rs7247451). cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGGCCGAGCACTCAGAGGAG 0.662000 15 10 0 0 0.010729 0 0 OR2Y1 134083 broad.mit.edu 37 5 180166145 180166145 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:180166145C>T uc003mmf.1 - 0 914 c.914G>A c.(913-915)tGg>tAg p.W305* NM_001001657 NP_001001657 Q8NGV0 OR2Y1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA. 305 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114) all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTGCCCCTCCATAGTACTTT 0.423000 59 48 0 0 0.014410 0 0 OR2T2 401992 broad.mit.edu 37 1 248616389 248616389 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:248616389C>T uc001iek.1 + 0 291 c.291C>T c.(289-291)ggC>ggT p.G97G NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA. 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L96L(2) cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 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) CCTTCCTGGGCTGTGCAGTTC 0.532000 176 51 0 0 0.014410 0 0 C1orf198 84886 broad.mit.edu 37 1 230979419 230979419 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:230979419G>A uc001hub.3 - 2 652 c.608C>T c.(607-609)cCt>cTt p.P203L C1orf198_uc009xfh.2_Missense_Mutation_p.P73L|C1orf198_uc001huc.2_5'UTR|C1orf198_uc001hud.2_Missense_Mutation_p.P165L NM_032800 NP_001129967 Q9H425 CA198_HUMAN Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA. 203 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 17 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) CTCGGCCTCAGGCCCCTCCCC 0.642000 22 25 0 0 0.003954 0 0 UNC13C 440279 broad.mit.edu 37 15 54586225 54586225 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:54586225G>A uc021smr.1 + 8 3945 c.3945G>A c.(3943-3945)agG>agA p.R1315R UNC13C_uc021sms.1_Silent_p.R1317R|UNC13C_uc002acl.3_Silent_p.R147R NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1317 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) TAGAAGTGAGGACCTTGAGTG 0.363000 53 32 0 0 0.006999 0 0 PLIN4 729359 broad.mit.edu 37 19 4510976 4510976 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:4510976C>T uc002mar.1 - 2 2954 c.2954G>A c.(2953-2955)aGt>aAt p.S985N PLIN4_uc010dub.1_Missense_Mutation_p.S9N NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN Homo sapiens perilipin 4 (PLIN4), mRNA. 985 27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2) 41 GGTAACCCCACTGAAGACAGT 0.617000 19 5 0 0 0.000602 0 0 FCGBP 8857 broad.mit.edu 37 19 40408029 40408029 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr19:40408029C>T uc002omp.4 - 8 4700 c.4692G>A c.(4690-4692)gaG>gaA p.E1564E NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1564 Cys-rich.|TIL 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACTGGCAGCCCTCAGCACACC 0.602000 31 10 0 0 0.006214 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125367418 125367418 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:125367418G>A uc010flu.3 + 11 2161 c.1797G>A c.(1795-1797)ggG>ggA p.G599G CNTNAP5_uc002tno.3_Silent_p.G598G NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 598 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) GGCACCAGGGGAATACAGCCG 0.537000 32 16 0 0 0.003163 0 0 MUC3A 4584 broad.mit.edu 37 7 100608884 100608884 + Missense_Mutation SNP G A A rs73163797 by1000genomes TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:100608884G>A uc003uxl.1 + 6 2763 c.1963G>A c.(1963-1965)Gcg>Acg p.A655T AK096803_uc003uxm.1_Non-coding_Transcript|AK096803_uc003uxn.1_Intron|MUC3A_uc010lhn.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; p.A755T(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 GAGCGGTCCCGCGTGTCGGTA 0.667000 11 5 0 0 0.010729 0 0 TRPM2 7226 broad.mit.edu 37 21 45786783 45786783 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr21:45786783C>T uc010gpt.1 + 3 670 c.570C>T c.(568-570)ttC>ttT p.F190F TRPM2_uc002zet.1_Silent_p.F190F|TRPM2_uc002zeu.1_Silent_p.F190F|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.F190F|TRPM2_uc002zex.1_5'Flank NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 190 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 AGAGCATTTTCCGCAGAGGCC 0.642000 7 11 0 0 0.010729 0 0 PTPRT 11122 broad.mit.edu 37 20 40733337 40733337 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:40733337C>T uc002xkg.3 - 24 3596 c.3412G>A c.(3412-3414)Gat>Aat p.D1138N PTPRT_uc010ggj.3_Missense_Mutation_p.D1157N|PTPRT_uc010ggi.3_Missense_Mutation_p.D341N NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1138 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.C1137Y(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGGATGGCATCGTGCACAAAC 0.512000 27 17 0 0 0.004990 0 0 THSD7B 80731 broad.mit.edu 37 2 137988738 137988738 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:137988738C>T uc002tva.1 + 6 1755 c.1755C>T c.(1753-1755)tcC>tcT p.S585S THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.S475S 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) GTTCCCAGTCCTGTTCAAATA 0.507000 14 14 0 0 0.002450 0 0 TREM1 54210 broad.mit.edu 37 6 41250298 41250298 + Nonsense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:41250298G>A uc003oqf.2 - 1 305 c.241C>T c.(241-243)Caa>Taa p.Q81* TREM1_uc003oqg.2_Nonsense_Mutation_p.Q81*|TREM1_uc021yzj.1_Nonsense_Mutation_p.Q81* NM_018643 NP_061113 Q9NP99 TREM1_HUMAN Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA. 81 Ig-like V-type. blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) CTCCCCACTTGGACTGGATGG 0.498000 21 40 0 0 0.009718 0 0 CEP170P1 645455 broad.mit.edu 37 4 119472291 119472291 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:119472291C>T uc003icb.3 + 5 588 c.504C>T c.(502-504)gcC>gcT p.A168A Homo sapiens centrosomal protein 170kDa pseudogene 1 (CEP170P1), non-coding RNA. AATTAAGAGCCGAAAGTGAAG 0.274000 9 16 0 0 0.008871 0 0 DSCAM 1826 broad.mit.edu 37 21 41725663 41725663 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr21:41725663C>T uc002yyq.1 - 4 1115 c.663G>A c.(661-663)gcG>gcA p.A221A 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. 221 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 p.A221A(2) 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) GGGCTGAGTTCGCTGGGTCTG 0.498000 7 6 0 0 0.001168 0 0 RHBDL3 162494 broad.mit.edu 37 17 30648009 30648009 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:30648009C>T uc010csx.1 + 7 889 c.875C>T c.(874-876)cCg>cTg p.P292L RHBDL3_uc002hhe.1_Missense_Mutation_p.R326C|RHBDL3_uc010csw.1_Missense_Mutation_p.R318C|RHBDL3_uc010csy.1_Missense_Mutation_p.R228C|RHBDL3_uc002hhf.1_Missense_Mutation_p.R228C P58872 RHBL3_HUMAN Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA. 0 proteolysis integral to membrane calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Breast(31;0.116)|Ovarian(249;0.182) CGTGTGGCTCCGCTTCCACCC 0.662000 28 13 0 0 0.013537 0 0 PRSS1 5644 broad.mit.edu 37 7 142460761 142460761 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:142460761G>A uc003wak.2 + 4 651 c.634G>A c.(634-636)Gga>Aga p.G212R 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_uc003wam.2_Missense_Mutation_p.G152R NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 212 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) ACAGCTCCAAGGAGTTGTCTC 0.502000 20 44 0 0 0.011902 0 0 MUC17 140453 broad.mit.edu 37 7 100677263 100677263 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:100677263C>T uc003uxp.1 + 2 2619 c.2566C>T c.(2566-2568)Cca>Tca p.P856S MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 856 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCTCAAC 0.488000 274 14 0 0 0.004990 0 0 BTBD8 284697 broad.mit.edu 37 1 92554331 92554331 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:92554331C>T uc001doo.3 + 1 493 c.226C>T c.(226-228)Ctt>Ttt p.L76F BTBD8_uc010otc.2_Non-coding_Transcript NM_183242 NP_899065 Q5XKL5 BTBD8_HUMAN Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA. 76 BTB 1. nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1) 16 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) CAAAGCAGTCCTTTTAGCAAG 0.368000 77 29 0 0 0.008361 0 0 TRIM58 25893 broad.mit.edu 37 1 248028016 248028016 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:248028016G>A uc001ido.3 + 2 574 c.526G>A c.(526-528)Gaa>Aaa p.E176K NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 176 intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGAGAAAGTGGAAATGCAGAG 0.582000 23 10 0 0 0.008291 0 0 RPL5 6125 broad.mit.edu 37 1 93298955 93298955 + Nonsense_Mutation SNP A T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:93298955A>T uc001doz.3 + 1 91 c.13A>T c.(13-15)Aaa>Taa p.K5* FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN Homo sapiens ribosomal protein L5 (RPL5), mRNA. 5 endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) GGGGTTTGTTAAAGTTGTTAA 0.299000 42 48 0 0 0.014410 0 0 CEP128 145508 broad.mit.edu 37 14 81251619 81251619 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:81251619G>A uc001xux.2 - 13 2002 c.1831C>T c.(1831-1833)Cac>Tac p.H611Y CEP128_uc010asz.2_Non-coding_Transcript NM_152446 NP_689659 Q6ZU80 CE128_HUMAN Homo sapiens centrosomal protein 128kDa (CEP128), mRNA. 611 centriole|spindle pole NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 51 TCCTCCAAGTGAGCTTTCTCA 0.453000 58 29 0 0 0.007291 0 0 OTOF 9381 broad.mit.edu 37 2 26705273 26705274 + Splice_Site DNP CC TT TT TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr2:26705273_26705274CC>TT uc002rhk.3 - 14 1706 c.1579_splice c.e14+1 p.G527_splice NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 527 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCTGCTGACCTTTGTCTCCG 0.574000 22 12 0 0 0.004672 0 0 abParts 0 broad.mit.edu 37 14 107013315 107013315 + RNA SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:107013315C>T uc021ser.1 - 218 c.8561G>A Parts of antibodies, mostly variable regions. CACTCATGTCCCCTCACACTC 0.468000 23 19 0 0 0.006122 0 0 RHCG 51458 broad.mit.edu 37 15 90021107 90021107 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:90021107G>A uc002bnz.2 - 5 960 c.936C>T c.(934-936)gtC>gtT p.V312V RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_Silent_p.V196V NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Homo sapiens Rh family, C glycoprotein (RHCG), mRNA. 312 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) TGATGCCGCAGACGAAGCCGA 0.587000 16 14 0 0 0.003163 0 0 MYH4 4622 broad.mit.edu 37 17 10361017 10361017 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:10361017C>T uc002gmn.3 - 15 1728 c.1617G>A c.(1615-1617)gaG>gaA p.E539E AK097500_uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA. 539 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 ACATGCACTCCTCTTCTAGGA 0.438000 64 21 0 0 0.014323 0 0 C9 735 broad.mit.edu 37 5 39308393 39308393 + Silent SNP T C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:39308393T>C uc003jlv.4 - 7 1268 c.1179A>G c.(1177-1179)gaA>gaG p.E393E NM_001737 NP_001728 P02748 CO9_HUMAN Homo sapiens complement component 9 (C9), mRNA. 393 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CAACAGAGATTTCAGAGAAAG 0.358000 86 13 0 0 0.013537 0 0 ZNF619 285267 broad.mit.edu 37 3 40523445 40523445 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:40523445C>T uc011azb.2 + 2 423 c.116C>T c.(115-117)cCt>cTt p.P39L ZNF619_uc011aza.2_5'UTR|ZNF619_uc011azc.2_Missense_Mutation_p.P39L|ZNF619_uc011azd.2_Intron|ZNF619_uc003ckj.3_Silent_p.P6P|ZNF619_uc021wwh.1_Silent_p.P6P NM_001145082 NP_001138554 E9PCD9 E9PCD9_HUMAN Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA. 39 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) AGCCTGCACCCTACGCAGAGG 0.527000 60 38 0 0 0.010771 0 0 LGR5 8549 broad.mit.edu 37 12 71898435 71898435 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:71898435C>T uc001swl.3 + 1 302 c.254C>T c.(253-255)cCc>cTc p.P85L LGR5_uc001swm.3_Missense_Mutation_p.P85L|LGR5_uc021rar.1_Missense_Mutation_p.P85L|LGR5_uc001swn.1_Non-coding_Transcript NM_003667 NP_003658 O75473 LGR5_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA. 85 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 CTCCCGAATCCCCTGCCCAGT 0.507000 100 34 0 0 0.004289 0 0 TAF1L 138474 broad.mit.edu 37 9 32631964 32631964 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:32631964C>T uc003zrg.1 - 0 3704 c.3614G>A c.(3613-3615)cGa>cAa p.R1205Q AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1205 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AGCTGGTTTTCGGACTGTCTC 0.423000 57 37 0 0 0.009718 0 0 SLC38A4 55089 broad.mit.edu 37 12 47170762 47170762 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:47170762C>T uc001rpi.2 - 12 1498 c.1099G>A c.(1099-1101)Gtg>Atg p.V367M SLC38A4_uc001rpj.2_Missense_Mutation_p.V367M NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 367 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity p.T366T(1) 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) ATATTTGACACCGTTTGCATT 0.383000 50 12 0 0 0.010729 0 0 GPR151 134391 broad.mit.edu 37 5 145894714 145894714 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:145894714C>T uc003lod.1 - 0 963 c.963G>A c.(961-963)tgG>tgA p.W321* NM_194251 NP_919227 Q8TDV0 GP151_HUMAN Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA. 321 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2) 14 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCATCCATTTCCATACACCTT 0.448000 29 14 0 0 0.001855 0 0 KIAA1755 85449 broad.mit.edu 37 20 36867950 36867950 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr20:36867950G>A uc002xhy.1 - 3 1999 c.1727C>T c.(1726-1728)tCc>tTc p.S576F KIAA1755_uc002xhz.1_Missense_Mutation_p.S576F NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN Homo sapiens KIAA1755 (KIAA1755), mRNA. 576 p.S576P(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TGCTATCCTGGAGCGGAAAAC 0.637000 25 11 0 0 0.001855 0 0 RPL9 6133 broad.mit.edu 37 4 39456226 39456226 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:39456226G>A uc003gub.3 - 5 664 c.516C>T c.(514-516)atC>atT p.I172I RPL9_uc003guc.3_Silent_p.I172I|RPL9_uc011byk.2_Non-coding_Transcript NM_001024921 NP_001020092 P32969 RL9_HUMAN Homo sapiens ribosomal protein L9 (RPL9), transcript variant 2, mRNA. 172 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|nucleolus|ribosome rRNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1) 8 AAAATTTCCTGATATCCTTGT 0.353000 7 17 0 0 0.006122 0 0 CLDN10 9071 broad.mit.edu 37 13 96230203 96230203 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr13:96230203C>T uc001vmh.2 + 4 683 c.622C>T c.(622-624)Cat>Tat p.H208Y CLDN10_uc001vmg.2_Missense_Mutation_p.H206Y|CLDN10_uc010tii.1_Missense_Mutation_p.H187Y NM_006984 NP_008915 P78369 CLD10_HUMAN Homo sapiens claudin 10 (CLDN10), transcript variant b, mRNA. 208 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) GACAAAGTATCATGGTGGAGA 0.388000 27 18 0 0 0.010504 0 0 GALNT10 55568 broad.mit.edu 37 5 153755896 153755896 + Nonsense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr5:153755896C>T uc003lvh.3 + 4 760 c.628C>T c.(628-630)Cga>Tga p.R210* GALNT10_uc003lvg.1_Nonsense_Mutation_p.R210*|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Intron NM_198321 NP_938080 Q86SR1 GLT10_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA. 210 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R210*(2)|p.L209L(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 32 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21) Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577) GAGGATTCTTCGAACCAAGAA 0.502000 48 23 0 0 0.014323 0 0 DNAH1 25981 broad.mit.edu 37 3 52431002 52431002 + Missense_Mutation SNP A C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:52431002A>C uc011bef.2 + 72 11990 c.11729A>C c.(11728-11730)gAg>gCg p.E3910A DNAH1_uc003ddv.3_Missense_Mutation_p.E768A NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 3975 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) CTCTCCCCTGAGCACAGCTAC 0.617000 3 3 0 0 0.004672 0 0 FAM5B 57795 broad.mit.edu 37 1 177250484 177250484 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:177250484G>A uc001glf.3 + 7 2484 c.2172G>A c.(2170-2172)agG>agA p.R724R FAM5B_uc001glg.3_Silent_p.R619R NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 724 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 TTGAGCTCAGGGACCGGGTGA 0.537000 47 27 0 0 0.005443 0 0 CCR4 1233 broad.mit.edu 37 3 32995941 32995941 + Missense_Mutation SNP C A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:32995941C>A uc003cfg.1 + 1 1195 c.1027C>A c.(1027-1029)Ccc>Acc p.P343T CCR4_uc021wuw.1_Missense_Mutation_p.P343T NM_005508 NP_005499 P51679 CCR4_HUMAN Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA. 343 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane p.P343L(1) NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TGCTGACACCCCCAGCTCATC 0.453000 33 5 0.00116845 0.00186984 0.001168 1 0 C11orf63 79864 broad.mit.edu 37 11 122774974 122774974 + Missense_Mutation SNP T G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:122774974T>G uc001pym.3 + 2 983 c.686T>G c.(685-687)gTg>gGg p.V229G C11orf63_uc001pyl.1_Missense_Mutation_p.V229G NM_024806 NP_079082 Q6NUN7 CK063_HUMAN Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA. 229 breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 47 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) TCTCCGTACGTGAAGAGCTCA 0.512000 57 16 0 0 0.004990 0 0 ARSG 22901 broad.mit.edu 37 17 66339772 66339772 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:66339772C>T uc002jhc.2 + 2 1042 c.246C>T c.(244-246)tcC>tcT p.S82S NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Homo sapiens arylsulfatase G (ARSG), mRNA. 82 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CAGCTGCCTCCACCTGCTCAC 0.592000 24 7 0 0 0.004482 0 0 OMA1 115209 broad.mit.edu 37 1 58946724 58946724 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:58946724C>T uc001cyy.3 - 8 1576 c.1488G>A c.(1486-1488)acG>acA p.T496T DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Intron NM_145243 NP_660286 Q96E52 OMA1_HUMAN Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA. 496 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) TCTGTTTCTTCGTGATATTTA 0.353000 56 58 0 0 0.014410 0 0 NUDT4 11163 broad.mit.edu 37 12 93793087 93793087 + Missense_Mutation SNP C A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr12:93793087C>A uc010sup.2 + 4 876 c.478C>A c.(478-480)Ctt>Att p.L160I NUDT4_uc001tcm.3_Missense_Mutation_p.L159I|NUDT4_uc001tcn.3_Missense_Mutation_p.L107I|NUDT4_uc010suq.2_Missense_Mutation_p.L108I|NUDT4_uc001tco.3_Missense_Mutation_p.L107I NM_199040 NP_950241 Q9NZJ9 NUDT4_HUMAN Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA. 159 calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding endometrium(2)|kidney(1)|lung(2) 5 AGTCCCTTCCCTTCCGGATAA 0.473000 151 19 4.35082e-09 7.03206e-09 0.010504 1 0 ARID3B 10620 broad.mit.edu 37 15 74836479 74836479 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:74836479C>T uc002aye.3 + 1 403 c.202C>T c.(202-204)Ccc>Tcc p.P68S ARID3B_uc002ayc.3_Missense_Mutation_p.P68S|ARID3B_uc002ayd.3_Missense_Mutation_p.P68S NM_006465 NP_006456 Q8IVW6 ARI3B_HUMAN Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA. 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 TCCCTTAGGTCCCTTAGCCAG 0.562000 12 12 0 0 0.001855 0 0 HIVEP3 59269 broad.mit.edu 37 1 42047905 42047905 + Missense_Mutation SNP A G G TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:42047905A>G uc001cgz.4 - 3 3777 c.2564T>C c.(2563-2565)gTt>gCt p.V855A HIVEP3_uc001cha.4_Missense_Mutation_p.V855A|HIVEP3_uc001cgy.3_Non-coding_Transcript NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA. 855 Glu/Pro-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GATCTCAGGAACCTGAATGTT 0.612000 93 30 0 0 0.012213 0 0 SLC29A4 222962 broad.mit.edu 37 7 5331406 5331406 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:5331406C>T uc003sod.3 + 4 659 c.498C>T c.(496-498)taC>taT p.Y166Y SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Silent_p.Y166Y|SLC29A4_uc003soe.3_Missense_Mutation_p.T154M NM_153247 NP_694979 Q7RTT9 S29A4_HUMAN Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA. 166 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|integral to membrane nucleoside transmembrane transporter activity p.A165V(1) breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1) 20 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15) ACCAGGCCTACGCCATCAACC 0.637000 20 31 0 0 0.006230 0 0 CLVS1 157807 broad.mit.edu 37 8 62212784 62212784 + Missense_Mutation SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr8:62212784G>A uc003xuh.3 + 1 722 c.398G>A c.(397-399)cGa>cAa p.R133Q CLVS1_uc003xug.2_Missense_Mutation_p.R133Q|CLVS1_uc003xui.3_Intron NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 133 CRAL-TRIO. 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 CTGGAAAACCGAGACCATTAC 0.458000 32 14 0 0 0.004007 0 0 TMEM234 56063 broad.mit.edu 37 1 32682831 32682831 + Silent SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:32682831C>T uc009vub.1 - 3 360 c.357G>A c.(355-357)acG>acA p.T119T TMEM234_uc001buo.3_Intron|TMEM234_uc001bup.3_Intron|TMEM234_uc010oha.2_Intron|TMEM234_uc001buq.4_Intron Q8WY98 TM234_HUMAN Homo sapiens transmembrane protein 234 (TMEM234), mRNA. 0 integral to membrane kidney(2)|lung(3) 5 CACAGAGCTGCGTCCCGCACT 0.517000 26 9 0 0 0.006214 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303261 151303261 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:151303261C>T uc022cgz.1 - 0 832 c.832G>A c.(832-834)Gaa>Aaa p.E278K MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.E278K|MAGEA10_uc004ffm.2_Missense_Mutation_p.E278K|MAGEA10_uc004ffl.3_Missense_Mutation_p.E278K NM_021048 NP_066386 P43363 MAGAA_HUMAN Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA. 278 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) AGGTAGTTTTCCTGCACCCAA 0.532000 27 36 0 0 0.004289 0 0 CD19 930 broad.mit.edu 37 16 28944319 28944319 + Missense_Mutation SNP C T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr16:28944319C>T uc010byo.2 + 2 505 c.443C>T c.(442-444)tCc>tTc p.S148F NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.S148F NM_001178098 NP_001171569 P15391 CD19_HUMAN Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA. 148 cellular defense response external side of plasma membrane|integral to plasma membrane protein binding|receptor signaling protein activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1) 29 AGCTCCCCTTCCGGGAAGCTC 0.632000 7 4 0 0 0.001168 0 0 FOXRED2 80020 broad.mit.edu 37 22 36892219 36892219 + Silent SNP G A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr22:36892219G>A uc003apn.4 - 5 1527 c.1419C>T c.(1417-1419)ccC>ccT p.P473P FOXRED2_uc003apm.4_Silent_p.P25P|FOXRED2_uc003apo.4_Silent_p.P473P|FOXRED2_uc003app.4_Silent_p.P473P NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA. 473 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 GCATCTGTATGGGGAACTCCT 0.597000 12 51 0 0 0.014410 0 0 CAPN2 824 broad.mit.edu 37 1 223900573 223900573 + Frame_Shift_Del DEL C - - TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr1:223900573delC uc001hob.4 + 0 455 c.231delC c.(229-231)cgcfs p.R77fs CAPN2_uc010puy.2_Intron NM_001748 NP_001139540 P17655 CAN2_HUMAN Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA. 77 Calpain catalytic. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) AGTGGAAGCGCCCCACGGTAG 0.766 --- 4 --- --- 2 --- MCF2L2 23101 broad.mit.edu 37 3 182925526 182925547 + Frame_Shift_Del DEL TCCTTCATTTTATAACGATCCT - - rs142012093 by1000genomes TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr3:182925526_182925547delTCCTTCATTTTATAACGATCCT uc003fli.1 - 22 2651_2672 c.2561_2582delAGGATCGTTATAAAATGAAGGA c.(2560-2583)aaggatcgttataaaatgaaggatfs p.K854fs NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA. 854 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TCGAATCAAATCCTTCATTTTATAACGATCCTTGTGAATTGT 0.428 --- 69 --- --- 10 --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA - - TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:1019055_1019056delCA uc003gce.3 + 6 1596_1597 c.1435_1436delCA c.(1435-1437)cacfs p.H479fs FGFRL1_uc003gcf.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.3_Frame_Shift_Del_p.H479fs NM_021923 NP_068742 Q8N441 FGRL1_HUMAN Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA. 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 --- 6 --- --- 3 --- KDR 3791 broad.mit.edu 37 4 55955941 55955941 + Frame_Shift_Del DEL G - - TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr4:55955941delG uc003has.3 - 23 3523 c.3221delC c.(3220-3222)ccafs p.P1074fs KDR_uc003hat.1_Frame_Shift_Del_p.P1074fs NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 1074 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) AATTGTTTCTGGGGCCATCCA 0.408 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) --- 38 --- --- 47 --- BTN2A3P 54718 broad.mit.edu 37 6 26428209 26428210 + Frame_Shift_Ins INS - A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:26428209_26428210insA uc011dkl.1 + 3 847_848 c.817_818insA c.(817-819)gaafs p.E273fs BTN2A3P_uc011dkm.2_Non-coding_Transcript Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA. TCTCCAAAAGGAAAAAAAAGAT 0.416 --- 46 --- --- 7 --- SLC35F1 222553 broad.mit.edu 37 6 118475765 118475765 + Frame_Shift_Del DEL A - - TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr6:118475765delA uc003pxx.4 + 1 532 c.331delA c.(331-333)acafs p.T111fs NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA. 111 transport integral to membrane breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(226;0.217) CTATACCACCACACTAGCCGT 0.413 --- 104 --- --- 22 --- NUP205 23165 broad.mit.edu 37 7 135262632 135262633 + Frame_Shift_Del DEL CT - - TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr7:135262632_135262633delCT uc003vsw.3 + 5 768_769 c.737_738delCT c.(736-738)actfs p.T246fs NUP205_uc011kqa.1_Non-coding_Transcript NM_015135 NP_055950 Q92621 NU205_HUMAN Homo sapiens nucleoporin 205kDa (NUP205), mRNA. 246 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 AAAGAAGACACTCTCCTCCTCA 0.450 --- 41 --- --- 9 --- LRSAM1 90678 broad.mit.edu 37 9 130248022 130248024 + In_Frame_Del DEL GCA - - TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:130248022_130248024delGCA uc004brb.2 + 16 1539_1541 c.1167_1169delGCA c.(1165-1170)atgcag>atg p.Q391del LRSAM1_uc010mxk.2_In_Frame_Del_p.Q391del|LRSAM1_uc004brc.2_In_Frame_Del_p.Q391del|LRSAM1_uc004brd.2_In_Frame_Del_p.Q391del|LRSAM1_uc004bre.2_5'UTR NM_001005373 NP_612370 Q6UWE0 LRSM1_HUMAN Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA. 391 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2) 16 CAGCCGCCATGCAGCAGATGCTG 0.591 --- 35 --- --- 21 --- RALGDS 5900 broad.mit.edu 37 9 136029060 136029061 + Frame_Shift_Del DEL GG - - TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr9:136029060_136029061delGG uc004ccw.3 - 6 1228_1229 c.947_948delCC c.(946-948)cccfs p.P316fs RALGDS_uc011mcw.2_Intron|RALGDS_uc010nab.3_3'UTR|RALGDS_uc011mcx.2_Frame_Shift_Del_p.P299fs|RALGDS_uc010nac.1_Frame_Shift_Del_p.P180fs|RALGDS_uc004ccy.1_3'UTR NM_021996 NP_068836 Q12967 GNDS_HUMAN Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1), mRNA. 0 Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity p.P316P(1) endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) AGAGGTACTCGGGGGACAGCAC 0.589 T CIITA """PMBL, Hodgkin Lymphona, """ --- 97 --- --- 24 --- MICALCL 84953 broad.mit.edu 37 11 12316384 12316389 + In_Frame_Del DEL CTCCTA - - rs3812754 byFrequency TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:12316384_12316389delCTCCTA uc001mkg.1 + 2 1697_1702 c.1406_1411delCTCCTA c.(1405-1413)cctcctaca>cca p.PT470del NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN Homo sapiens MICAL C-terminal like (MICALCL), mRNA. 470 Poly-Pro. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding p.T471delT(4) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) cctcctcctcctcctACAGCGGGAGG 0.573 --- 2 --- --- 4 --- OR5D13 390142 broad.mit.edu 37 11 55541445 55541445 + Frame_Shift_Del DEL A - - TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr11:55541445delA uc010ril.2 + 0 532 c.532delA c.(532-534)aatfs p.N178fs NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) CTTCATAAATAATTTTATCTG 0.408 --- 48 --- --- 16 --- SLITRK5 26050 broad.mit.edu 37 13 88330160 88330161 + Frame_Shift_Ins INS - C C TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr13:88330160_88330161insC uc001vln.3 + 1 2736_2737 c.2517_2518insC c.(2515-2520)gagcccfs p.E839fs SLITRK5_uc010tic.1_Frame_Shift_Ins_p.E598fs|SLITRK5_uc021rlc.1_Frame_Shift_Ins_p.E839fs NM_015567 NP_056382 O94991 SLIK5_HUMAN Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA. 839 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) GCACCATCGAGCCCCGGGAGGA 0.673 --- 4 --- --- 11 --- TSHR 7253 broad.mit.edu 37 14 81609513 81609513 + Frame_Shift_Del DEL A - - TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr14:81609513delA uc001xvd.1 + 9 1267 c.1111delA c.(1111-1113)aaafs p.K371fs NM_000369 NP_000360 P16473 TSHR_HUMAN Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA. 371 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) CCAGGAGCTCAAAAACCCCCA 0.448 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism --- 47 --- --- 13 --- HMGN2P46 283651 broad.mit.edu 37 15 45848231 45848231 + RNA DEL T - - TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr15:45848231delT uc001zvn.1 + 3 c.985delT HMGN2P46_uc010beg.1_Non-coding_Transcript|HMGN2P46_uc010beh.1_Non-coding_Transcript|HMGN2P46_uc010bei.1_Non-coding_Transcript|HMGN2P46_uc010bej.1_Non-coding_Transcript|HMGN2P46_uc001zvm.1_Non-coding_Transcript Homo sapiens high mobility group nucleosomal binding domain 2 pseudogene 46 (HMGN2P46), non-coding RNA. TTTGTTTAGCTTTTTTTTTTT 0.323 --- 7 --- --- 5 --- BRCA1 672 broad.mit.edu 37 17 41244539 41244540 + Frame_Shift_Del DEL AA - - rs80357617 TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:41244539_41244540delAA uc002icq.3 - 9 3240_3241 c.3008_3009delTT c.(3007-3009)tttfs p.F1003fs BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Frame_Shift_Del_p.F932fs|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Frame_Shift_Del_p.F956fs|BRCA1_uc002ict.3_Frame_Shift_Del_p.F1003fs|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Frame_Shift_Del_p.F1003fs|BRCA1_uc002ide.1_Frame_Shift_Del_p.F834fs|BRCA1_uc010cyy.1_Frame_Shift_Del_p.F1003fs|BRCA1_uc010whs.1_Frame_Shift_Del_p.F1003fs|BRCA1_uc010cyz.2_Frame_Shift_Del_p.F956fs|BRCA1_uc010cza.2_Frame_Shift_Del_p.F977fs|BRCA1_uc010wht.1_Frame_Shift_Del_p.F707fs NM_007294 NP_009228 P38398 BRCA1_HUMAN Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA. 1003 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) AATGTTCCTCAAAGTTTTCCTC 0.332 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) --- 89 --- --- 24 --- ANKFN1 162282 broad.mit.edu 37 17 54428180 54428181 + Frame_Shift_Ins INS - A A TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chr17:54428180_54428181insA uc002iun.1 + 3 286_287 c.251_252insA c.(250-252)tcafs p.S84fs NM_153228 NP_694960 Q8N957 ANKF1_HUMAN Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA. 84 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 CTCTGTCAGTCAAAAAAACATA 0.426 --- 31 --- --- 17 --- TTC3P1 286495 broad.mit.edu 37 X 74962044 74962045 + Frame_Shift_Ins INS - T T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 264eec6c-54a4-47f3-923e-83c31f5cd8d9 78cf4c7a-0349-4b30-9e1c-b4ad6ab9c07e g.chrX:74962044_74962045insT uc022bzf.1 - 0 870_871 c.319_320insA c.(319-321)acafs p.T107fs Homo sapiens tetratricopeptide repeat domain 3 pseudogene 1 (TTC3P1), non-coding RNA. lung(13)|upper_aerodigestive_tract(2) 15 TGATTTTAGTGTTTTTTGGATT 0.292 --- 8 --- --- 6 ---