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 G2E3 55632 broad.mit.edu 37 14 31058628 31058628 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:31058628G>A uc001wqk.2 + 3 329 c.175G>A c.(175-177)Gaa>Aaa p.E59K G2E3_uc010tpe.1_Missense_Mutation_p.E13K|G2E3_uc010tpf.1_Missense_Mutation_p.E13K NM_017769 NP_060239 Q7L622 G2E3_HUMAN Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA. 59 apoptosis|multicellular organismal development|protein modification process Golgi apparatus|nucleolus acid-amino acid ligase activity|protein binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 CAAAGAAGAAGAAGGAGTTTA 0.289000 80 48 0 0 0.139131 0 0 ABCG4 64137 broad.mit.edu 37 11 119024977 119024977 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:119024977G>A uc001pvs.3 + 3 700 c.364G>A c.(364-366)Gga>Aga p.G122R ABCG4_uc009zar.3_Missense_Mutation_p.G122R NM_022169 NP_071452 Q9H172 ABCG4_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA. 122 ABC transporter. cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1) 44 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CAGGGAGTCTGGAATGAAGGG 0.547000 37 12 0 0 0.080935 0 0 WRN 7486 broad.mit.edu 37 8 30969276 30969276 + Missense_Mutation SNP A G G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:30969276A>G uc003xio.4 + 18 3022 c.2234A>G c.(2233-2235)aAt>aGt p.N745S WRN_uc010lvk.3_Missense_Mutation_p.N212S NM_000553 NP_000544 Q14191 WRN_HUMAN Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA. 745 DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AAAACAGGGAATATCCTTCAG 0.348000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 24 26 0 0 0.125774 0 0 FLRT1 23769 broad.mit.edu 37 11 63884758 63884759 + Missense_Mutation DNP GG AA AA TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:63884758_63884759GG>AA uc021qks.1 + 0 1019_1020 c.1019_1020GG>AA c.(1018-1020)cgg>cAA p.R340Q MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.R340Q NM_013280 NP_037412 Q9NZU1 FLRT1_HUMAN Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA. 312 LRRCT. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity p.R340W(1) breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 ATGTGGCTGCGGGACTGGGTGA 0.658000 33 14 0 0 0.115264 0 0 CLSTN2 64084 broad.mit.edu 37 3 140265476 140265476 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:140265476G>A uc003etn.3 + 9 1817 c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K CLSTN2_uc003etm.2_Missense_Mutation_p.E543K NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 543 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 GGCCTGCAAGGAAGGGCTGGA 0.522000 HNSCC(16;0.037) 27 16 0 0 0.033300 0 0 DMC1 11144 broad.mit.edu 37 22 38934376 38934377 + Missense_Mutation DNP GA AT AT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:38934376_38934377GA>AT uc003avz.1 - 10 873_874 c.698_699TC>AT c.(697-699)ttc>tAT p.F233Y DMC1_uc011anv.1_Missense_Mutation_p.F178Y NM_007068 NP_008999 Q14565 DMC1_HUMAN Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA. 233 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 Melanoma(58;0.0286) CACGGCCACTGAAATCCACTCG 0.376000 Homologous recombination 33 32 0 0 0.115264 0 0 MFSD10 10227 broad.mit.edu 37 4 2933366 2933366 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:2933366G>A uc003gfw.3 - 7 1253 c.939C>T c.(937-939)ttC>ttT p.F313F MFSD10_uc021xks.1_Silent_p.F237F|MFSD10_uc003gfz.3_Silent_p.F313F NM_001120 NP_001139541 Q14728 MFS10_HUMAN Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA. 313 apoptosis integral to membrane tetracycline transporter activity breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GGCCGATGAGGAAAAACATCT 0.682000 9 10 0 0 0.058154 0 0 FAM181A 90050 broad.mit.edu 37 14 94394732 94394732 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:94394732C>T uc001ybz.2 + 2 612 c.287C>T c.(286-288)tCc>tTc p.S96F FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Missense_Mutation_p.S34F|FAM181A_uc021saz.1_Missense_Mutation_p.S34F|FAM181A_uc010aus.2_Missense_Mutation_p.S34F|FAM181A_uc001yca.2_Missense_Mutation_p.S34F NM_138344 NP_001194003 Q8N9Y4 F181A_HUMAN Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA. 96 cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2) 18 TGCCGCCGCTCCGTGGACCAT 0.612000 22 19 0 0 0.049695 0 0 DCDC5 100506627 broad.mit.edu 37 11 30902757 30902757 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:30902757C>T uc009yjk.1 - 24 3585 c.3516G>A c.(3514-3516)gaG>gaA p.E1172E DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.E831E|DCDC5_uc009yjj.2_Non-coding_Transcript NM_020869 NP_065920 Q6ZRR9 DCDC5_HUMAN Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA. 74 intracellular signal transduction NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1) 31 CCATATCTCGCTCTATGTCGT 0.468000 38 25 0 0 0.099896 0 0 TRPC6 7225 broad.mit.edu 37 11 101375367 101375367 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:101375367G>A uc001pgk.4 - 1 758 c.333C>T c.(331-333)atC>atT p.I111I TRPC6_uc009ywy.3_Silent_p.I111I|TRPC6_uc009ywz.1_Silent_p.I111I NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 111 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GCACCACTGGGATGTTACCAT 0.478000 42 49 0 0 0.139131 0 0 OR4A15 81328 broad.mit.edu 37 11 55136058 55136058 + Silent SNP G A A rs141225150 byFrequency TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:55136058G>A uc010rif.2 + 0 699 c.699G>A c.(697-699)gcG>gcA p.A233A NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A233A(2) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ATGGAGGAGCGATTTGTGCTG 0.413000 48 50 0 0 0.139131 0 0 WRNIP1 56897 broad.mit.edu 37 6 2783732 2783732 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:2783732G>A uc003mtz.3 + 4 1770 c.1579G>A c.(1579-1581)Gag>Aag p.E527K WRNIP1_uc003mua.3_Missense_Mutation_p.E502K NM_020135 NP_064520 Q96S55 WRIP1_HUMAN Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA. 527 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) TCGCATGCTCGAGGGAGGAGA 0.602000 41 16 0 0 0.038395 0 0 HK2 3099 broad.mit.edu 37 2 75108959 75108959 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:75108959G>A uc002snd.3 + 10 3618 c.1692G>A c.(1690-1692)caG>caA p.Q564Q NM_000189 NP_000180 P52789 HXK2_HUMAN Homo sapiens hexokinase 2 (HK2), mRNA. 564 Catalytic. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 43 CCATCCCGCAGGAGGTCATGC 0.617000 22 14 0 0 0.105934 0 0 CTNNB1 1499 broad.mit.edu 37 3 41277853 41277853 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:41277853C>T uc010hia.1 + 12 1973 c.1817C>T c.(1816-1818)cCc>cTc p.P606L CTNNB1_uc003ckq.2_Missense_Mutation_p.P606L|CTNNB1_uc003ckp.2_Missense_Mutation_p.P606L|CTNNB1_uc003ckr.2_Missense_Mutation_p.P606L|CTNNB1_uc011azf.1_Missense_Mutation_p.P599L|CTNNB1_uc011azg.1_Missense_Mutation_p.P534L|CTNNB1_uc003cks.3_3'UTR|CTNNB1_uc003ckt.1_Missense_Mutation_p.P41L NM_001904 NP_001895 P35222 CTNB1_HUMAN Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA. 606 Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CTTTATTCTCCCATTGAAAAC 0.453000 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 88 65 0 0 0.139131 0 0 MARCH9 92979 broad.mit.edu 37 12 58152034 58152034 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:58152034C>T uc001spx.2 + 2 1088 c.657C>T c.(655-657)ctC>ctT p.L219L MARCH9_uc001spy.3_Silent_p.L106L NM_138396 NP_612405 Q86YJ5 MARH9_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA. 219 Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network ligase activity|zinc ion binding autonomic_ganglia(1)|large_intestine(2)|lung(1) 4 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) AGGATCTGCTCTTTCAGATCT 0.537000 29 16 0 0 0.146539 0 0 HSD3B2 3284 broad.mit.edu 37 1 119965160 119965160 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:119965160G>A uc001ehs.3 + 2 1809 c.1036G>A c.(1036-1038)Gag>Aag p.E346K HSD3B2_uc021ost.1_Missense_Mutation_p.E346K|HSD3B2_uc001eht.3_Missense_Mutation_p.E346K|HSD3B2_uc001ehu.3_Intron NM_001166120 NP_001159592 P26439 3BHS2_HUMAN Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA. 346 androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity p.W345L(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1) 27 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CTACAGCTGGGAGGAAGCCAA 0.507000 31 32 0 0 0.045705 0 0 THSD7B 80731 broad.mit.edu 37 2 137814319 137814319 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:137814319G>A uc002tva.1 + 1 376 c.376G>A c.(376-378)Gaa>Aaa p.E126K THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E16K 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) GGTTGCAAATGAAATATGCGA 0.522000 97 37 0 0 0.069456 0 0 C8orf34 116328 broad.mit.edu 37 8 69445342 69445342 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:69445342G>A uc010lyz.3 + 6 1354 c.1063G>A c.(1063-1065)Gaa>Aaa p.E355K C8orf34_uc010lyy.2_Missense_Mutation_p.E355K|C8orf34_uc003xyb.3_Missense_Mutation_p.E244K NM_052958 NP_443190 Q49A92 CH034_HUMAN Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA. 269 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) ATCTGTAACAGAAGAAGATAT 0.358000 40 27 0 0 0.116897 0 0 CER1 9350 broad.mit.edu 37 9 14722326 14722326 + Silent SNP C T T rs138557355 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr9:14722326C>T uc003zlj.3 - 0 390 c.345G>A c.(343-345)ccG>ccA p.P115P NM_005454 NP_005445 O95813 CER1_HUMAN Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA. 115 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) TTCCATCTATCGGCTGGATGA 0.507000 74 48 0 0 0.139131 0 0 ADPRHL2 54936 broad.mit.edu 37 1 36557548 36557548 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:36557548C>T uc001bzt.3 + 3 607 c.554C>T c.(553-555)tCc>tTc p.S185F NM_017825 NP_060295 Q9NX46 ARHL2_HUMAN Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA. 185 cytoplasm|nucleus metal ion binding|poly(ADP-ribose) glycohydrolase activity cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1) 8 Myeloproliferative disorder(586;0.0393) CACGCCTCCTCCCTGGGTTAC 0.637000 39 21 0 0 0.076483 0 0 FAT4 79633 broad.mit.edu 37 4 126389861 126389861 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:126389861G>A uc003ifj.4 + 10 12094 c.12094G>A c.(12094-12096)Gaa>Aaa p.E4032K FAT4_uc011cgp.2_Missense_Mutation_p.E2295K|FAT4_uc003ifi.1_Missense_Mutation_p.E1510K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 4032 Laminin G-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGAAATTGCCGAAGAAAGACT 0.413000 30 32 0 0 0.144211 0 0 SNCAIP 9627 broad.mit.edu 37 5 121787008 121787008 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:121787008G>A uc003ksw.1 + 9 2672 c.2466G>A c.(2464-2466)gtG>gtA p.V822V SNCAIP_uc011cwl.1_Silent_p.V380V|SNCAIP_uc003ksy.1_Silent_p.V456V|SNCAIP_uc003ksx.1_Silent_p.V869V|SNCAIP_uc003ksz.1_Silent_p.V456V|SNCAIP_uc010jcu.2_Silent_p.V418V|SNCAIP_uc011cwm.1_Silent_p.V456V|SNCAIP_uc003kta.1_Silent_p.V454V|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.V516V|SNCAIP_uc010jcx.1_Silent_p.V762V|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.V338V NM_005460 NP_005451 Q9Y6H5 SNCAP_HUMAN Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA. 822 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AGGAGCCTGTGGTGCAGATGG 0.498000 41 25 0 0 0.091800 0 0 USP10 9100 broad.mit.edu 37 16 84767063 84767063 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:84767063C>T uc010voe.2 + 2 307 c.56C>T c.(55-57)cCt>cTt p.P19L USP10_uc002fii.3_Missense_Mutation_p.P15L|USP10_uc010vof.2_5'UTR|USP10_uc002fij.3_5'UTR NM_005153 NP_005144 Q14694 UBP10_HUMAN Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA. 15 Interaction with p53/TP53. DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 GATTTTAGCCCTGATGAATTC 0.289000 69 28 0 0 0.050027 0 0 GPR113 165082 broad.mit.edu 37 2 26534719 26534719 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:26534719G>A uc002rhe.4 - 10 1877 c.1877C>T c.(1876-1878)tCc>tTc p.S626F GPR113_uc010yky.1_Missense_Mutation_p.S557F|GPR113_uc002rhb.1_Missense_Mutation_p.S229F|GPR113_uc010eyk.1_Missense_Mutation_p.S427F|GPR113_uc002rhc.1_Missense_Mutation_p.S229F|GPR113_uc002rhd.1_Non-coding_Transcript NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA. 626 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTAGGGAAGGAGATGCTGTA 0.567000 15 17 0 0 0.146539 0 0 TTC14 151613 broad.mit.edu 37 3 180322733 180322733 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:180322733C>T uc003fkk.3 + 5 927 c.795C>T c.(793-795)ttC>ttT p.F265F TTC14_uc003fkl.3_Silent_p.F265F|TTC14_uc003fkm.2_Silent_p.F265F NM_133462 NP_597719 Q96N46 TTC14_HUMAN Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA. 265 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TAGTTGAATTCCTTCTAGAAA 0.368000 16 10 0 0 0.069234 0 0 MYH1 4619 broad.mit.edu 37 17 10419519 10419519 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:10419519G>A uc002gmo.3 - 3 439 c.345C>T c.(343-345)atC>atT p.I115I AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 115 Myosin head-like. muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AACTCACGTAGATCATCCAGG 0.438000 74 52 0 0 0.139131 0 0 CSMD1 64478 broad.mit.edu 37 8 3443700 3443700 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:3443700C>T uc022aqr.1 - 8 1570 c.1180G>A c.(1180-1182)Gag>Aag p.E394K NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 395 Sushi 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCGAGCGTCTCTGTAACTCTC 0.478000 6 25 0 0 0.083992 0 0 POU6F2 11281 broad.mit.edu 37 7 39247072 39247072 + Missense_Mutation SNP C T T rs150551730 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:39247072C>T uc003thb.2 + 4 507 c.364C>T c.(364-366)Ctc>Ttc p.L122F POU6F2_uc022acb.1_Missense_Mutation_p.L122F|POU6F2_uc010kxo.3_Missense_Mutation_p.L114F NM_007252 NP_009183 P78424 PO6F2_HUMAN Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. 122 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CCAGCCAATCCTCATTCCCTT 0.592000 254 62 0 0 0.139131 0 0 UGGT1 56886 broad.mit.edu 37 2 128938530 128938530 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:128938530C>T uc002tps.3 + 35 4145 c.3967C>T c.(3967-3969)Cgg>Tgg p.R1323W UGGT1_uc002tpr.3_Missense_Mutation_p.R1299W NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA. 1323 Glucosyltransferase (By similarity). 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine ER-Golgi intermediate compartment|endoplasmic reticulum lumen UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CAAATGGCCCCGGTGGCTTCA 0.388000 48 31 0 0 0.144211 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76461454 76461454 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:76461454G>A uc002fex.1 + 2 644 c.505G>A c.(505-507)Ggc>Agc p.G169S CNTNAP4_uc002feu.1_Missense_Mutation_p.G165S|CNTNAP4_uc002fev.1_Missense_Mutation_p.G78S|CNTNAP4_uc010chb.1_Missense_Mutation_p.G141S|CNTNAP4_uc002few.2_Missense_Mutation_p.G141S NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA. 166 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding p.L168P(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 GAACCCCAAGGGCAGAATTGG 0.408000 56 43 0 0 0.098360 0 0 NRG3 10718 broad.mit.edu 37 10 84733611 84733611 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:84733611C>T uc021pvc.1 + 6 1379 c.1352C>T c.(1351-1353)cCc>cTc p.P451L NRG3_uc010qlz.1_Missense_Mutation_p.P450L|NRG3_uc021pvb.1_Non-coding_Transcript|NRG3_uc001kco.2_Missense_Mutation_p.P451L|NRG3_uc001kcp.2_Missense_Mutation_p.P230L|NRG3_uc001kcq.2_Missense_Mutation_p.P101L|NRG3_uc021pvd.1_Missense_Mutation_p.P230L|NRG3_uc021pve.1_Missense_Mutation_p.P255L|NRG3_uc021pvf.1_Missense_Mutation_p.P101L|NRG3_uc021pvg.1_Missense_Mutation_p.P255L|NRG3_uc021pvh.1_Missense_Mutation_p.P39L|NRG3_uc021pvi.1_Missense_Mutation_p.P281L|NRG3_uc021pvk.1_5'UTR|NRG3_uc001kcr.2_Missense_Mutation_p.P101L|NRG3_uc021pvl.1_Missense_Mutation_p.P101L NM_001010848 NP_001010848 P56975 NRG3_HUMAN Homo sapiens neuregulin 3 (NRG3), transcript variant 1, mRNA. 451 regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity p.P451P(1) breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TTTGTCGGCCCCCAGTCATTC 0.502000 33 24 0 0 0.091800 0 0 APOL5 80831 broad.mit.edu 37 22 36113929 36113929 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:36113929G>A uc003aof.3 + 0 11 c.11G>A c.(10-12)gGc>gAc p.G4D NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN Homo sapiens apolipoprotein L, 5 (APOL5), mRNA. 4 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 ATGCCATGTGGCAAACAAGGA 0.373000 12 14 0 0 0.038395 0 0 TMEM151A 256472 broad.mit.edu 37 11 66061887 66061887 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:66061887C>T uc001ohl.3 + 1 282 c.170C>T c.(169-171)gCc>gTc p.A57V NM_153266 NP_694998 Q8N4L1 T151A_HUMAN Homo sapiens transmembrane protein 151A (TMEM151A), mRNA. 57 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 GCCTGCGGGGCCGTGGTGGCC 0.741000 20 23 0 0 0.076483 0 0 DUSP27 92235 broad.mit.edu 37 1 167097626 167097626 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:167097626G>A uc001geb.1 + 4 3274 c.3258G>A c.(3256-3258)agG>agA p.R1086R NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA. 1086 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GAGCCAAGAGGAAGTTCACCC 0.522000 17 12 0 0 0.093190 0 0 SLC6A4 6532 broad.mit.edu 37 17 28544223 28544223 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:28544223G>A uc002hey.4 - 5 1342 c.798C>T c.(796-798)atC>atT p.I266I NM_001045 NP_001036 P31645 SC6A4_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA. 266 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) TGCTGAAGTAGATAACAGTGA 0.612000 58 41 0 0 0.104719 0 0 SLC35E2 9906 broad.mit.edu 37 1 1670360 1670360 + Splice_Site SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:1670360C>T uc001aia.2 - 3 881 c.458_splice c.e3+1 p.R153_splice SLC35E2B_uc001ahh.4_Intron|SLC35E2_uc001ahy.3_Splice_Site_p.R153_splice NM_182838 NP_878258 P0CK97 S35E2_HUMAN Homo sapiens solute carrier family 35, member E2 (SLC35E2), transcript variant 1, mRNA. 153 integral to membrane endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGATTCTTTACCTCATCAGAC 0.468000 15 5 0 0 0.069234 0 0 VPS13D 55187 broad.mit.edu 37 1 12337851 12337851 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:12337851G>A uc001atv.3 + 18 4347 c.4206G>A c.(4204-4206)ttG>ttA p.L1402L VPS13D_uc001atw.3_Silent_p.L1402L|VPS13D_uc001atx.3_Silent_p.L590L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 1402 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TGGGACACTTGGGACAGATAT 0.428000 40 29 0 0 0.054565 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049047 36049047 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:36049047G>A uc003jjz.2 - 3 919 c.787C>T c.(787-789)Ccc>Tcc p.P263S UGT3A2_uc011cos.2_Missense_Mutation_p.P229S|UGT3A2_uc011cot.2_Intron NM_174914 NP_777574 Q3SY77 UD3A2_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA. 263 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ACAGTGTTGGGAAGCAGAGGT 0.448000 31 26 0 0 0.099896 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348016 140348016 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:140348016G>A uc003lii.3 + 0 2270 c.1665G>A c.(1663-1665)ggG>ggA p.G555G PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.G555G NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 555 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) AGGACAAGGGGAGCCCACCAC 0.512000 42 28 0 0 0.144211 0 0 FAT3 120114 broad.mit.edu 37 11 92534326 92534326 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:92534326C>T uc001pdj.4 + 8 8164 c.8147C>T c.(8146-8148)aCc>aTc p.T2716I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 2716 Cadherin 25. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TATTCCTTTACCATTGCAGAA 0.502000 TCGA Ovarian(4;0.039) 399 281 0 0 0.139131 0 0 ZNF248 57209 broad.mit.edu 37 10 38121734 38121734 + Silent SNP G A A rs145831910 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:38121734G>A uc001izd.1 - 5 1048 c.549C>T c.(547-549)atC>atT p.I183I ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Silent_p.I183I NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN Homo sapiens zinc finger protein 248 (ZNF248), mRNA. 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 CTCCAATAGGGATTTTCTCAT 0.343000 25 21 0 0 0.055883 0 0 PRPF8 10594 broad.mit.edu 37 17 1564924 1564924 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:1564924C>T uc002fte.3 - 25 4297 c.4183G>A c.(4183-4185)Gag>Aag p.E1395K NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 1395 U5 snRNP|catalytic step 2 spliceosome|nuclear speck RNA binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GCAATGGCCTCTTGCCTCTTG 0.577000 26 19 0 0 0.055883 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140723813 140723813 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:140723813G>A uc003ljm.2 + 0 213 c.213G>A c.(211-213)agG>agA p.R71R PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.R71R NM_018916 NP_061739 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA. 71 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGAGGTAGGACGCAGCTTT 0.607000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 54 0 0 0.139131 0 0 KLHL21 9903 broad.mit.edu 37 1 6659204 6659204 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:6659204C>T uc001aoa.3 - 1 1382 c.1330G>A c.(1330-1332)Gac>Aac p.D444N KLHL21_uc001anz.1_Missense_Mutation_p.D444N|KLHL21_uc009vme.3_Missense_Mutation_p.D77N NM_014851 NP_055666 Q9UJP4 KLH21_HUMAN Homo sapiens kelch-like 21 (Drosophila) (KLHL21), mRNA. 444 anaphase|cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2) 8 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644) AGGTCGGTGTCCGGGTCGTAG 0.637000 14 13 0 0 0.093190 0 0 ZMIZ1 57178 broad.mit.edu 37 10 80968157 80968157 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:80968157C>T uc001kaf.2 + 5 697 c.125C>T c.(124-126)cCa>cTa p.P42L ZMIZ1_uc001kae.3_Missense_Mutation_p.P42L NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA. 42 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) TGCGGAGACCCACGGGCCTTC 0.617000 19 13 0 0 0.146539 0 0 TRPV2 51393 broad.mit.edu 37 17 16340149 16340149 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:16340149G>A uc002gpy.3 + 14 2640 c.2241G>A c.(2239-2241)gaG>gaA p.E747E TRPV2_uc002gpz.3_Silent_p.E317E|C17orf76-AS1_uc021tqt.1_5'Flank|C17orf76-AS1_uc021tqu.1_5'Flank|C17orf76-AS1_uc010vwf.2_5'Flank|C17orf76-AS1_uc021tqv.1_5'Flank|C17orf76-AS1_uc021tqw.1_5'Flank|C17orf76-AS1_uc002gqb.4_5'Flank|C17orf76-AS1_uc010vwk.2_5'Flank|C17orf76-AS1_uc010vwh.2_5'Flank|C17orf76-AS1_uc021tqx.1_5'Flank|C17orf76-AS1_uc010vwi.2_5'Flank|C17orf76-AS1_uc010cpd.3_5'Flank|C17orf76-AS1_uc021tqy.1_5'Flank|C17orf76-AS1_uc002gqc.3_5'Flank|C17orf76-AS1_uc021tqz.1_5'Flank|C17orf76-AS1_uc010vwg.2_5'Flank|C17orf76-AS1_uc010vwj.2_5'Flank|C17orf76-AS1_uc002gqa.4_5'Flank|C17orf76-AS1_uc010vwo.1_5'Flank|C17orf76-AS1_uc010vwp.1_5'Flank|C17orf76-AS1_uc010vwl.1_5'Flank|C17orf76-AS1_uc010vwm.1_5'Flank|C17orf76-AS1_uc010vwn.1_5'Flank|C17orf76-AS1_uc021tra.1_5'Flank|C17orf76-AS1_uc021trb.1_5'Flank|C17orf76-AS1_uc021trc.1_5'Flank|C17orf76-AS1_uc010cpe.2_5'Flank|SNORD49B_uc010cpf.3_5'Flank NM_016113 NP_057197 Q9Y5S1 TRPV2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA. 747 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AGGAGGATGAGGATGGTGCCT 0.557000 69 30 0 0 0.064281 0 0 SLC2A10 81031 broad.mit.edu 37 20 45353909 45353909 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr20:45353909C>T uc002xsl.3 + 1 331 c.234C>T c.(232-234)atC>atT p.I78I NM_030777 NP_110404 O95528 GTR10_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA. 78 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) AGCAAGCCATCCTCGGGAGCA 0.662000 43 22 0 0 0.099896 0 0 GOLGA8IP 283796 broad.mit.edu 37 15 23261104 23261104 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr15:23261104C>T uc001yvh.1 + 8 1078 c.536C>T c.(535-537)tCg>tTg p.S179L DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA. endometrium(1)|lung(2)|prostate(1) 4 AGAAAAATGTCGCAGGAGGTG 0.468000 48 35 0 0 0.139131 0 0 LEPREL4 10609 broad.mit.edu 37 17 39967158 39967158 + Silent SNP G T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:39967158G>T uc002hxu.3 - 3 1211 c.1017C>A c.(1015-1017)gcC>gcA p.A339A FKBP10_uc002hxv.2_5'Flank|LEPREL4_uc002hxt.3_Silent_p.A248A NM_006455 NP_006446 Q92791 SC65_HUMAN Homo sapiens leprecan-like 4 (LEPREL4), mRNA. 248 synaptonemal complex assembly nucleolus|synaptonemal complex binding p.H339R(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1) 8 CCTGCTCATGGGCCCCTTCAC 0.642000 18 18 8.34094e-07 9.21409e-07 0.049695 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102483220 102483220 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:102483220G>A uc001yks.2 + 37 7896 c.7732G>A c.(7732-7734)Gaa>Aaa p.E2578K DYNC1H1_uc001ykt.1_Missense_Mutation_p.E69K NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 2578 AAA 3 (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 AGTCCGCCACGAAGCCCTCTT 0.622000 22 23 0 0 0.099896 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64766754 64766754 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:64766754C>T uc003jtp.3 - 2 1127 c.313G>A c.(313-315)Gat>Aat p.D105N ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 105 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) GACACAAAATCTGTGTTGAGA 0.378000 38 28 0 0 0.108266 0 0 ELSPBP1 64100 broad.mit.edu 37 19 48517439 48517439 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:48517439G>A uc002pht.3 + 2 260 c.82G>A c.(82-84)Gaa>Aaa p.E28K NM_022142 NP_071425 Q96BH3 ESPB1_HUMAN Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA. 28 Fibronectin type-II 1. single fertilization extracellular region NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6) 10 all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606) GATGCATGAGGAATGTGTCTT 0.463000 112 62 0 0 0.139131 0 0 MAP6 4135 broad.mit.edu 37 11 75299108 75299108 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:75299108C>T uc001owu.3 - 3 1503 c.1438G>A c.(1438-1440)Gag>Aag p.E480K NM_033063 NP_149052 Q96JE9 MAP6_HUMAN Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA. 480 Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) TTCAGAGGCTCTTGCACCATA 0.517000 87 73 0 0 0.139131 0 0 CAMK4 814 broad.mit.edu 37 5 110710562 110710562 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:110710562C>T uc003kpf.3 + 2 490 c.255C>T c.(253-255)atC>atT p.I85I CAMK4_uc010jbv.3_Intron NM_001744 NP_001735 Q16566 KCC4_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA. 85 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ACAAAAAAATCGTAAGAACTG 0.378000 24 17 0 0 0.033300 0 0 IQGAP2 10788 broad.mit.edu 37 5 75993836 75993836 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:75993836C>T uc003kek.3 + 32 4453 c.4231C>T c.(4231-4233)Cgt>Tgt p.R1411C IQGAP2_uc011csv.2_Missense_Mutation_p.R907C|IQGAP2_uc003kel.3_Missense_Mutation_p.R907C|IQGAP2_uc010izw.1_Missense_Mutation_p.R112C NM_006633 NP_006624 Q13576 IQGA2_HUMAN Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA. 1411 small GTPase mediated signal transduction actin cytoskeleton GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding p.R1411C(2) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AAGAATCTATCGTAAGCTTCG 0.353000 16 9 0 0 0.069234 0 0 ELP4 26610 broad.mit.edu 37 11 31671743 31671743 + Missense_Mutation SNP T A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:31671743T>A uc001mtc.3 + 8 1152 c.1117T>A c.(1117-1119)Tta>Ata p.L373I ELP4_uc001mtb.3_Missense_Mutation_p.L373I|ELP4_uc010rdz.2_Missense_Mutation_p.L374I Q96EB1 ELP4_HUMAN Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA. 373 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|cytoplasm|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) AGCTTTTAAATTAAAAAGGAA 0.269000 10 20 0 0 0.049695 0 0 CELA2A 63036 broad.mit.edu 37 1 15789319 15789319 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:15789319G>A uc001awk.3 + 3 345 c.319G>A c.(319-321)Gtg>Atg p.V107M NM_033440 NP_254275 P08217 CEL2A_HUMAN Homo sapiens chymotrypsin-like elastase family, member 2A (CELA2A), mRNA. 107 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 TAAGATTGTGGTGCACAAGGA 0.587000 85 55 0 0 0.139131 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161022309 161022309 + Silent SNP C T T rs140126629 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:161022309C>T uc001fxl.3 - 7 1207 c.861G>A c.(859-861)agG>agA p.R287R ARHGAP30_uc001fxk.3_Silent_p.R287R|ARHGAP30_uc001fxm.3_Silent_p.R133R|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Silent_p.R133R NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 287 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.V286V(1) breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) ACCTCCACTTCCTGACCTTCA 0.552000 109 67 0 0 0.139131 0 0 PRSS42 339906 broad.mit.edu 37 3 46874578 46874578 + Nonsense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:46874578G>A uc011bap.2 - 2 490 c.490C>T c.(490-492)Cga>Tga p.R164* PRSS42_uc003cqj.3_Nonsense_Mutation_p.R60* NM_182702 NP_874361 Q7Z5A4 PRS42_HUMAN Homo sapiens protease, serine, 42 (PRSS42), mRNA. 164 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 8 AGGTCATTTCGAATGGTTGTA 0.458000 43 30 0 0 0.134883 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370413 86370413 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr13:86370413C>T uc001vll.1 - 1 690 c.231G>A c.(229-231)acG>acA p.T77T SLITRK6_uc021rla.1_Silent_p.T77T NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 77 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGTGAAGCATCGTCAAGCCGT 0.368000 119 54 0 0 0.139131 0 0 PEX12 5193 broad.mit.edu 37 17 33904984 33904985 + Missense_Mutation DNP GG AA AA TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:33904984_33904985GG>AA uc002hjp.3 - 0 672_673 c.56_57CC>TT c.(55-57)tcc>tTT p.S19F NM_000286 NP_000277 O00623 PEX12_HUMAN Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA. 19 protein import into peroxisome matrix integral to peroxisomal membrane protein C-terminus binding|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8) 18 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCTCAAAGATGGATGGCTGGTC 0.495000 40 31 0 0 0.115264 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501962 140501962 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:140501962C>T uc003lip.1 + 0 382 c.382C>T c.(382-384)Cac>Tac p.H128Y NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 128 Cadherin 1. 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) CATAAATGATCACTCTCCAAT 0.418000 36 17 0 0 0.038395 0 0 SDSL 113675 broad.mit.edu 37 12 113873216 113873216 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:113873216G>A uc001tvi.3 + 6 733 c.526G>A c.(526-528)Ggg>Agg p.G176R SDSL_uc009zwh.3_Missense_Mutation_p.G176R NM_138432 NP_612441 Q96GA7 SDSL_HUMAN Homo sapiens serine dehydratase-like (SDSL), mRNA. 176 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) AGTTGGGGGTGGGGGTCTCCT 0.667000 16 8 0 0 0.038147 0 0 GJA8 2703 broad.mit.edu 37 1 147380904 147380904 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:147380904C>T uc021ovm.1 + 0 822 c.822C>T c.(820-822)atC>atT p.I274I GJA8_uc001epu.2_Silent_p.I274I NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 274 cell communication|visual perception connexon complex|integral to plasma membrane channel activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1) 37 all_hematologic(923;0.0276) AAGAGAAAATCGTTTCCCACT 0.537000 39 19 0 0 0.038395 0 0 ANK3 288 broad.mit.edu 37 10 61844949 61844949 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:61844949C>T uc001jky.3 - 30 4149 c.3811G>A c.(3811-3813)Gat>Aat p.D1271N ANK3_uc001jkw.3_Missense_Mutation_p.D405N|ANK3_uc009xpa.3_Missense_Mutation_p.D405N|ANK3_uc001jkx.3_Missense_Mutation_p.D449N|ANK3_uc010qih.2_Missense_Mutation_p.D1272N|ANK3_uc001jkz.4_Missense_Mutation_p.D1265N|ANK3_uc001jla.1_Missense_Mutation_p.D337N|ANK3_uc001jlb.1_Missense_Mutation_p.D789N|ANK3_uc001jkv.3_5'Flank NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1271 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GAGACACAATCTTTTATAAAC 0.388000 19 16 0 0 0.146539 0 0 BZRAP1 9256 broad.mit.edu 37 17 56385969 56385969 + Missense_Mutation SNP C A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:56385969C>A uc002ivx.4 - 21 5535 c.4664G>T c.(4663-4665)tGg>tTg p.W1555L BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Missense_Mutation_p.W1495L|BZRAP1_uc010wnt.2_Missense_Mutation_p.W1555L NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1555 mitochondrion benzodiazepine receptor binding p.W1555*(1) 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) CCCTTTCTCCCAGGCTGGGAG 0.697000 29 24 8.24728e-16 9.26376e-16 0.099896 1 0 FCHO1 23149 broad.mit.edu 37 19 17892342 17892342 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:17892342G>A uc002nhg.3 + 21 2101 c.1822G>A c.(1822-1824)Gga>Aga p.G608R FCHO1_uc010ebb.2_Missense_Mutation_p.G608R|FCHO1_uc002nhh.2_Missense_Mutation_p.G608R|FCHO1_uc010xpw.1_Missense_Mutation_p.G558R NM_001161357 NP_001154829 O14526 FCHO1_HUMAN Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA. 608 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 ATCCCAGACAGGACACGGTAT 0.612000 33 24 0 0 0.083992 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11846620 11846620 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:11846620G>A uc002dbk.3 - 20 2829 c.2631C>T c.(2629-2631)tcC>tcT p.S877S ZC3H7A_uc002dbh.3_Silent_p.S17S|ZC3H7A_uc002dbi.3_Silent_p.S65S|ZC3H7A_uc002dbj.3_Non-coding_Transcript|ZC3H7A_uc002dbl.3_Silent_p.S877S NM_014153 NP_054872 Q8IWR0 Z3H7A_HUMAN Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA. 877 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 GCTTCTCGGAGGAGATGTGGC 0.502000 42 32 0 0 0.144211 0 0 PECR 55825 broad.mit.edu 37 2 216904055 216904055 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:216904055C>T uc002vft.3 - 7 930 c.855G>A c.(853-855)ggG>ggA p.G285G PECR_uc010zjq.2_Non-coding_Transcript NM_018441 NP_060911 Q9BY49 PECR_HUMAN Homo sapiens peroxisomal trans-2-enoyl-CoA reductase (PECR), mRNA. 285 fatty acid biosynthetic process|regulation of apoptosis peroxisome binding|trans-2-enoyl-CoA reductase (NADPH) activity endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1) 14 Renal(323;0.0327) Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Adenine(DB00173) CAGAAAGGTCCCCTGCTCCCT 0.483000 102 51 0 0 0.139131 0 0 CTNND2 1501 broad.mit.edu 37 5 11022887 11022887 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:11022887C>T uc003jfa.1 - 16 3138 c.2993G>A c.(2992-2994)gGa>gAa p.G998E CTNND2_uc010itt.2_Missense_Mutation_p.G907E|CTNND2_uc011cmy.1_Missense_Mutation_p.G661E|CTNND2_uc011cmz.1_Missense_Mutation_p.G565E|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G590E NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA. 998 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTACTTATCTCCTTTGCTTTT 0.483000 29 30 0 0 0.050027 0 0 TRPC6 7225 broad.mit.edu 37 11 101375175 101375175 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:101375175C>T uc001pgk.4 - 1 950 c.525G>A c.(523-525)cgG>cgA p.R175R TRPC6_uc009ywy.3_Silent_p.R175R|TRPC6_uc009ywz.1_Silent_p.R175R NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 175 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding p.R175Q(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CTTCCACAATCCGAACATAAC 0.438000 16 24 0 0 0.076483 0 0 TKTL2 84076 broad.mit.edu 37 4 164394716 164394716 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:164394716C>T uc003iqp.4 - 0 332 c.171G>A c.(169-171)atG>atA p.M57I NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 57 cytoplasm metal ion binding|transketolase activity p.T56T(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GTTTATACTTCATCGTGTGGA 0.577000 17 20 0 0 0.043863 0 0 TIGD2 166815 broad.mit.edu 37 4 90034207 90034207 + Missense_Mutation SNP T C C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:90034207T>C uc003hsk.3 + 0 240 c.82T>C c.(82-84)Ttc>Ctc p.F28L FAM13A_uc003hsh.1_5'Flank NM_145715 NP_663761 Q4W5G0 TIGD2_HUMAN Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA. 28 HTH psq-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) AGGCATCTCTTTCAAAAAACT 0.353000 45 22 0 0 0.055883 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110432830 110432830 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:110432830G>A uc003yne.3 + 22 2712 c.2608G>A c.(2608-2610)Ggg>Agg p.G870R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 870 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CAAAACAAATGGGCCAACTAT 0.373000 HNSCC(38;0.096) 36 26 0 0 0.083992 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 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 36 64 0 0 0.139131 0 0 SYN1 6853 broad.mit.edu 37 X 47466364 47466364 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:47466364C>T uc004die.3 - 2 636 c.507G>A c.(505-507)cgG>cgA p.R169R SYN1_uc004did.3_Silent_p.R169R NM_006950 NP_008881 P17600 SYN1_HUMAN Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA. 169 C; actin-binding and synaptic-vesicle binding. Golgi apparatus|cell junction ATP binding|actin binding|ligase activity|transporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1) 21 TCACCCCATTCCGAAGAACTT 0.488000 1 14 0 0 0.119110 0 0 IL33 90865 broad.mit.edu 37 9 6250538 6250538 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr9:6250538G>A uc003zjt.3 + 2 234 c.156G>A c.(154-156)atG>atA p.M52I IL33_uc011lmg.2_Missense_Mutation_p.M52I|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Missense_Mutation_p.M52I NM_033439 NP_254274 O95760 IL33_HUMAN Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA. 52 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) CTGGCCTTATGATAAAAAAGG 0.418000 37 35 0 0 0.054565 0 0 NIPBL 25836 broad.mit.edu 37 5 37049280 37049280 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:37049280C>T uc003jkl.4 + 39 7330 c.6831C>T c.(6829-6831)tcC>tcT p.S2277S NIPBL_uc003jkk.4_Silent_p.S2277S|NIPBL_uc003jkn.3_5'Flank NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. 2277 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGAGTAGTTCCATCATGCAGC 0.403000 67 45 0 0 0.131918 0 0 PPP1R18 170954 broad.mit.edu 37 6 30652790 30652790 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:30652790G>A uc003nra.3 - 1 1237 c.1006C>T c.(1006-1008)Ctg>Ttg p.L336L PPP1R18_uc003nrb.4_Silent_p.L336L NM_001134870 NP_597728 Q6NYC8 PHTNS_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA. 336 cytoplasm|cytoskeleton actin binding CCGGAGTTCAGGGTCCATTTC 0.572000 80 124 0 0 0.139131 0 0 MUC16 94025 broad.mit.edu 37 19 9084874 9084874 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:9084874C>T uc002mkp.3 - 0 7145 c.6941G>A c.(6940-6942)gGa>gAa p.G2314E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 2314 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 CCTTCTCTCTCCCAGTGTAAT 0.483000 13 15 0 0 0.119110 0 0 ACSM2B 348158 broad.mit.edu 37 16 20559726 20559726 + Missense_Mutation SNP C T T rs138313532 byFrequency TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:20559726C>T uc002dhj.4 - 7 1174 c.964G>A c.(964-966)Gat>Aat p.D322N ACSM2B_uc002dhk.4_Missense_Mutation_p.D322N|ACSM2B_uc010bwf.1_Missense_Mutation_p.D322N NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 322 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CTGGAAAGATCCTGCTGTAGC 0.493000 70 32 0 0 0.111260 0 0 WWC3 55841 broad.mit.edu 37 X 10085462 10085462 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:10085462C>T uc004csx.4 + 10 1561 c.1363C>T c.(1363-1365)Cgc>Tgc p.R455C WWC3_uc010nds.3_Missense_Mutation_p.R119C|WWC3_uc010ndt.3_Non-coding_Transcript NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN Homo sapiens WWC family member 3 (WWC3), mRNA. 455 Ser-rich. p.R455H(1) NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 GCTGTCCTCCCGCTCCTCGCT 0.711000 1 14 0 0 0.033300 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G A A rs121913499 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:209113113G>A uc002vcs.3 - 3 640 c.394C>T c.(394-396)Cgt>Tgt p.R132C IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C NM_005896 NP_005887 O75874 IDHC_HUMAN Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA. 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle cytosol|peroxisomal matrix NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 47 33 0 0 0.064281 0 0 COL7A1 1294 broad.mit.edu 37 3 48613849 48613849 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:48613849C>T uc003ctz.2 - 68 5757 c.5756G>A c.(5755-5757)gGa>gAa p.G1919E NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 1919 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCCTTTGGATCCAGTCTCCCC 0.612000 13 13 0 0 0.105934 0 0 MYO18B 84700 broad.mit.edu 37 22 26423254 26423254 + Missense_Mutation SNP A C C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:26423254A>C uc003abz.1 + 42 7564 c.7314A>C c.(7312-7314)aaA>aaC p.K2438N MYO18B_uc003aca.1_Missense_Mutation_p.K2319N|MYO18B_uc010guy.1_Missense_Mutation_p.K2320N|MYO18B_uc010guz.1_Missense_Mutation_p.K2318N|MYO18B_uc011aka.1_Missense_Mutation_p.K1592N|MYO18B_uc011akb.1_Missense_Mutation_p.K1951N|MYO18B_uc010gva.1_Missense_Mutation_p.K421N|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2438 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GCAAGACCAAAGTGGACTTCG 0.552000 62 35 0 0 0.086207 0 0 abParts 0 broad.mit.edu 37 14 106405797 106405797 + RNA SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:106405797G>A uc021ser.1 - 3033 c.49995C>T Parts of antibodies, mostly variable regions. GGGACTGCCTGATCCAGTTCC 0.527000 61 38 0 0 0.104719 0 0 TTN 7273 broad.mit.edu 37 2 179600389 179600389 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:179600389G>A uc021vsy.1 - 46 11277 c.11052C>T c.(11050-11052)ctC>ctT p.L3684L TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L345L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4611 Ig-like 22. 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) TCCCTGGGGGGAGTTTTTGCC 0.428000 23 36 0 0 0.080422 0 0 MUC17 140453 broad.mit.edu 37 7 100686262 100686262 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:100686262C>T uc003uxp.1 + 2 11618 c.11565C>T c.(11563-11565)ttC>ttT p.F3855F MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 3855 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) CCGGTTCATTCTCCATACCTG 0.473000 46 105 0 0 0.139131 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147023718 147023718 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:147023718G>A uc010jgo.1 - 5 1275 c.1127C>T c.(1126-1128)tCt>tTt p.S376F JAKMIP2_uc003loq.1_Missense_Mutation_p.S376F|JAKMIP2_uc011dbx.1_Missense_Mutation_p.S334F|JAKMIP2_uc003lor.1_Missense_Mutation_p.S376F|LOC153469_uc003lop.1_Intron NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 376 Golgi apparatus p.S376Y(2) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCATTCAGAGATTTTAATTT 0.373000 25 21 0 0 0.062417 0 0 NFAM1 150372 broad.mit.edu 37 22 42793927 42793927 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:42793927C>T uc003bcn.4 - 3 638 c.600G>A c.(598-600)agG>agA p.R200R NM_145912 NP_666017 Q8NET5 NFAM1_HUMAN Homo sapiens NFAT activating protein with ITAM motif 1 (NFAM1), mRNA. 200 B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity integral to membrane|intracellular|plasma membrane transmembrane receptor activity large_intestine(1)|lung(3) 4 CTGGGCACTTCCTGGTGGGGT 0.627000 48 32 0 0 0.054565 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136411 40136411 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:40136411G>A uc021qgf.1 - 0 1432 c.1432C>T c.(1432-1434)Ccc>Tcc p.P478S LRRC4C_uc001mxc.1_Missense_Mutation_p.P474S|LRRC4C_uc001mxd.1_Missense_Mutation_p.P474S|LRRC4C_uc001mxa.1_Missense_Mutation_p.P478S|LRRC4C_uc001mxb.1_Missense_Mutation_p.P474S NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 478 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) ACTGGAGTGGGACCCACATTG 0.517000 29 27 0 0 0.099896 0 0 PCDH15 65217 broad.mit.edu 37 10 55782888 55782888 + Missense_Mutation SNP G A A rs34553661 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:55782888G>A uc010qhy.1 - 19 2700 c.2305C>T c.(2305-2307)Cgt>Tgt p.R769C PCDH15_uc010qhq.2_Missense_Mutation_p.R769C|PCDH15_uc010qhr.2_Missense_Mutation_p.R764C|PCDH15_uc021pqv.1_Missense_Mutation_p.R764C|PCDH15_uc021pqw.1_Missense_Mutation_p.R776C|PCDH15_uc010qht.2_Missense_Mutation_p.R771C|PCDH15_uc021pqx.1_Missense_Mutation_p.R764C|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R764C|PCDH15_uc021pqz.1_Missense_Mutation_p.R742C|PCDH15_uc010qhv.1_Missense_Mutation_p.R764C|PCDH15_uc010qhw.1_Missense_Mutation_p.R727C|PCDH15_uc010qhx.1_Missense_Mutation_p.R693C|PCDH15_uc010qhz.1_Missense_Mutation_p.R764C|PCDH15_uc010qia.1_Missense_Mutation_p.R742C|PCDH15_uc001jju.1_Missense_Mutation_p.R764C|PCDH15_uc010qib.1_Missense_Mutation_p.R742C|PCDH15_uc001jjw.3_Missense_Mutation_p.R764C NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 764 Cadherin 7. 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) GATGTGATACGAAAAAGATTA 0.368000 HNSCC(58;0.16) 33 31 0 0 0.144211 0 0 BMP5 653 broad.mit.edu 37 6 55623891 55623891 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:55623891C>T uc003pcq.3 - 5 1839 c.1127G>A c.(1126-1128)gGa>gAa p.G376E BMP5_uc011dxf.2_Intron NM_021073 NP_066551 P22003 BMP5_HUMAN Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA. 376 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) TGCAGCGTATCCTTCTGGTGC 0.343000 37 14 0 0 0.119110 0 0 NBPF10 100132406 broad.mit.edu 37 1 145360584 145360584 + Missense_Mutation SNP G A A rs78186669 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:145360584G>A uc021oul.1 + 73 9244 c.9209G>A c.(9208-9210)gGg>gAg p.G3070E NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3070 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GATGAGAAAGGGCCTGAAGTC 0.483000 16 5 0 0 0.029380 0 0 NDUFV1 4723 broad.mit.edu 37 11 67379699 67379699 + Missense_Mutation SNP T G G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:67379699T>G uc001omj.2 + 8 1424 c.1271T>G c.(1270-1272)aTt>aGt p.I424S NDUFV1_uc010rpv.1_Missense_Mutation_p.I323S|NDUFV1_uc001omk.4_Missense_Mutation_p.I415S|NDUFV1_uc001oml.2_Missense_Mutation_p.I417S|NDUFV1_uc010rpw.1_Missense_Mutation_p.I133S NM_007103 NP_009034 P49821 NDUV1_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 424 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) GGCCATACGATTTGTGCTCTG 0.622000 145 5 0 0 0.038147 0 0 ATP8A1 10396 broad.mit.edu 37 4 42602500 42602500 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:42602500C>T uc003gwr.2 - 5 677 c.445G>A c.(445-447)Gaa>Aaa p.E149K ATP8A1_uc003gws.2_Missense_Mutation_p.E149K|ATP8A1_uc011byz.1_Missense_Mutation_p.E149K NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 149 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CATACCTTTTCCCAGTGGACA 0.328000 37 28 0 0 0.059317 0 0 EPG5 57724 broad.mit.edu 37 18 43432602 43432602 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr18:43432602G>A uc002lbm.3 - 43 7670 c.7570C>T c.(7570-7572)Ctt>Ttt p.L2524F NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA. 2524 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ATGGATTCAAGAGCATTCAGA 0.443000 27 14 0 0 0.132662 0 0 GAD2 2572 broad.mit.edu 37 10 26534872 26534872 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:26534872G>A uc001isp.2 + 7 1366 c.863G>A c.(862-864)gGa>gAa p.G288E GAD2_uc001isq.2_Missense_Mutation_p.G288E NM_001134366 NP_001127838 Q05329 DCE2_HUMAN Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA. 288 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CTCAAGAAGGGAGCTGCAGCC 0.388000 15 5 0 0 0.021553 0 0 GRHL3 57822 broad.mit.edu 37 1 24669432 24669432 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:24669432C>T uc021oiw.1 + 10 1566 c.1336C>T c.(1336-1338)Ctt>Ttt p.L446F GRHL3_uc001bix.3_Missense_Mutation_p.L446F|GRHL3_uc021oix.1_Missense_Mutation_p.L400F|GRHL3_uc001biy.3_Missense_Mutation_p.L451F|GRHL3_uc001biz.3_Missense_Mutation_p.L353F NM_198174 NP_937817 Q8TE85 GRHL3_HUMAN Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA. 446 regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143) GACGACCTACCTTCGGCCAGA 0.637000 101 78 0 0 0.139131 0 0 ZNF646 9726 broad.mit.edu 37 16 31087996 31087996 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:31087996C>T uc002eap.3 + 1 640 c.351C>T c.(349-351)ctC>ctT p.L117L ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Silent_p.L117L NM_014699 NP_055514 O15015 ZN646_HUMAN Homo sapiens zinc finger protein 646 (ZNF646), mRNA. 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CTCCACACCTCCAGGGTGAGA 0.587000 31 21 0 0 0.049695 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A G G rs146714035 by1000genomes TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:145367739A>G uc021oul.1 + 82 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3445 p.K3445K(8) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 79 3 0 0 0.115264 0 0 EPS15 2060 broad.mit.edu 37 1 51869204 51869204 + Splice_Site SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:51869204C>T uc001csq.1 - 17 1770 c.1678_splice c.e17-1 p.A560_splice EPS15_uc009vyz.1_Splice_Site_p.A426_splice|EPS15_uc001csp.3_Splice_Site_p.A246_splice NM_001981 NP_001972 P42566 EPS15_HUMAN Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA. 560 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane SH3 domain binding|calcium ion binding p.0?(2) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 CTACTTCTTGCCTACAAAATA 0.323000 T MLL ALL 38 17 0 0 0.038395 0 0 RNF182 221687 broad.mit.edu 37 6 13977475 13977476 + Missense_Mutation DNP GG AA AA TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:13977475_13977476GG>AA uc021ylw.1 + 2 618_619 c.125_126GG>AA c.(124-126)agg>aAA p.R42K RNF182_uc021ylx.1_Missense_Mutation_p.R42K|RNF182_uc003nbe.3_Missense_Mutation_p.R42K|RNF182_uc003nbf.3_Missense_Mutation_p.R42K|RNF182_uc003nbg.3_Missense_Mutation_p.R42K|RNF182_uc021yly.1_Missense_Mutation_p.R42K NM_001165034 NP_689950 Q8N6D2 RN182_HUMAN Homo sapiens ring finger protein 182 (RNF182), transcript variant 4, mRNA. 42 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) TGTTGTCATAGGGTTTGTGCCA 0.485000 124 48 0 0 0.115264 0 0 ARL16 339231 broad.mit.edu 37 17 79650840 79650840 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:79650840C>T uc002kbf.3 - 0 115 c.16G>A c.(16-18)Ggg>Agg p.G6R ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_5'Flank|HGS_uc002kbg.3_5'Flank NM_001040025 NP_001035114 Q0P5N6 ARL16_HUMAN Homo sapiens ADP-ribosylation factor-like 16 (ARL16), mRNA. 6 GTP binding p.G6R(2) central_nervous_system(1)|endometrium(1)|lung(4)|skin(1) 7 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AAGGCCCGCCCACCGGCCACT 0.637000 13 10 0 0 0.093190 0 0 TSPAN2 10100 broad.mit.edu 37 1 115604836 115604836 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:115604836C>T uc001eft.3 - 2 258 c.190G>A c.(190-192)Gga>Aga p.G64R TSPAN2_uc021osc.1_Missense_Mutation_p.G64R NM_005725 NP_005716 O60636 TSN2_HUMAN Homo sapiens tetraspanin 2 (TSPAN2), mRNA. 64 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) GCCCCGGCTCCAACCAGAACA 0.612000 5 3 0 0 0.009096 0 0 CACNA1C 775 broad.mit.edu 37 12 2788894 2788894 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:2788894G>A uc009zdu.1 + 43 5833 c.5520G>A c.(5518-5520)gaG>gaA p.E1840E CACNA1C_uc001qkc.2_Silent_p.E1811E|CACNA1C_uc001qjz.2_Silent_p.E1792E|CACNA1C_uc001qkd.2_Silent_p.E1811E|CACNA1C_uc001qke.2_Silent_p.E1781E|CACNA1C_uc001qkf.2_Silent_p.E1800E|CACNA1C_uc009zdw.1_Silent_p.E1833E|CACNA1C_uc001qkg.2_Silent_p.E1798E|CACNA1C_uc001qkh.2_Silent_p.E1800E|CACNA1C_uc001qkl.2_Silent_p.E1840E|CACNA1C_uc001qkj.2_Silent_p.E1792E|CACNA1C_uc001qkk.2_Silent_p.E1792E|CACNA1C_uc001qkn.2_Silent_p.E1792E|CACNA1C_uc001qkm.2_Silent_p.E1781E|CACNA1C_uc001qko.2_Silent_p.E1812E|CACNA1C_uc001qkp.2_Silent_p.E1792E|CACNA1C_uc001qkq.2_Silent_p.E1820E|CACNA1C_uc001qku.2_Silent_p.E1792E|CACNA1C_uc001qkr.2_Silent_p.E1809E|CACNA1C_uc001qks.2_Silent_p.E1792E|CACNA1C_uc001qkt.2_Silent_p.E1811E|CACNA1C_uc009zdv.1_Silent_p.E1789E|CACNA1C_uc001qkb.2_Silent_p.E1792E|CACNA1C_uc001qki.1_Silent_p.E1528E|CACNA1C_uc010sea.1_Silent_p.E483E|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.E110E NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 1840 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCACTGTGGAGGGCCACGGGC 0.697000 7 7 0 0 0.029380 0 0 IP6K3 117283 broad.mit.edu 37 6 33690685 33690685 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:33690685G>A uc010jvf.2 - 6 1581 c.1045C>T c.(1045-1047)Ccc>Tcc p.P349S IP6K3_uc003ofb.2_Missense_Mutation_p.P349S NM_001142883 NP_473452 Q96PC2 IP6K3_HUMAN Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA. 349 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 GCTGCCTGGGGAGCCTCGTGA 0.557000 108 37 0 0 0.092188 0 0 GLI1 2735 broad.mit.edu 37 12 57865615 57865615 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:57865615G>A uc001snx.3 + 11 3186 c.3092G>A c.(3091-3093)gGa>gAa p.G1031E GLI1_uc021qzi.1_Missense_Mutation_p.G990E|GLI1_uc009zpq.3_Missense_Mutation_p.G903E NM_005269 NP_001153517 P08151 GLI1_HUMAN Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA. 1031 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CCTCCCGAAGGACAGGTATGT 0.582000 88 57 0 0 0.139131 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A G G rs9424867 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:145302714A>G uc021oul.1 + 7 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 384 p.L384L(6)|p.L113L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 71 6 0 0 0.021553 0 0 TRANK1 9881 broad.mit.edu 37 3 36893786 36893786 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:36893786G>A uc003cgj.3 - 12 4716 c.4468C>T c.(4468-4470)Cca>Tca p.P1490S NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 1490 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AAAGATTCTGGGAAATAGAAC 0.433000 7 8 0 0 0.047766 0 0 GBF1 8729 broad.mit.edu 37 10 104122406 104122406 + Nonsense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:104122406C>T uc001kux.2 + 14 2152 c.1858C>T c.(1858-1860)Cga>Tga p.R620* GBF1_uc001kuy.2_Nonsense_Mutation_p.R620*|GBF1_uc001kuz.2_Nonsense_Mutation_p.R621* NM_004193 NP_004184 Q92538 GBF1_HUMAN Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA. 620 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) AGATGGCACCCGAGAAGCTAG 0.502000 40 22 0 0 0.076483 0 0 CHRNA7 1139 broad.mit.edu 37 15 32460294 32460294 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr15:32460294G>A uc021sic.1 + 9 1338 c.1231G>A c.(1231-1233)Ggg>Agg p.G411R DKFZp434L187_uc001zfv.1_Intron|CHRNA7_uc001zft.3_Missense_Mutation_p.G382R|CHRNA7_uc010baf.3_Missense_Mutation_p.G201R|CHRNA7_uc010bak.3_Missense_Mutation_p.G297R NM_001190455 NP_683709 P36544 ACHA7_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA. 382 RMACS -> AWPAP (in Ref. 9; CAA80672). activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding endometrium(3)|large_intestine(1)|lung(6)|ovary(2) 12 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) CGCCAGCAACGGGAACCTGCT 0.721000 18 5 0 0 0.093190 0 0 NRG2 9542 broad.mit.edu 37 5 139231313 139231313 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:139231313G>A uc003lev.2 - 9 1902 c.1672C>T c.(1672-1674)Cca>Tca p.P558S NRG2_uc003lew.2_Missense_Mutation_p.P552S|NRG2_uc003lex.2_Missense_Mutation_p.P550S|NRG2_uc003ley.2_Missense_Mutation_p.P544S|NRG2_uc021yed.1_Missense_Mutation_p.P484S NM_013982 NP_053585 O14511 NRG2_HUMAN Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA. 550 embryo development extracellular region|integral to membrane|plasma membrane growth factor activity breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACATGCTGGGCTGTTGCAT 0.627000 30 23 0 0 0.091800 0 0 ZBBX 79740 broad.mit.edu 37 3 167023494 167023494 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:167023494C>T uc011bpc.2 - 16 1999 c.1662G>A c.(1660-1662)ttG>ttA p.L554L ZBBX_uc003feq.3_Silent_p.L525L|ZBBX_uc003fep.3_Silent_p.L554L NM_001199201 NP_001186130 A8MT70 ZBBX_HUMAN Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA. 554 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TGCTCAATTCCAAGGATTCTT 0.323000 27 18 0 0 0.055883 0 0 KIAA1328 57536 broad.mit.edu 37 18 34415210 34415210 + Silent SNP A G G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr18:34415210A>G uc002kzz.3 + 2 130 c.108A>G c.(106-108)gaA>gaG p.E36E KIAA1328_uc021uiw.1_Silent_p.E36E NM_020776 NP_065827 Q86T90 K1328_HUMAN Homo sapiens KIAA1328 (KIAA1328), mRNA. 36 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) TTTCTGCTGAAGGAAATGTCA 0.388000 38 55 0 0 0.139131 0 0 FOXR1 283150 broad.mit.edu 37 11 118849898 118849899 + Missense_Mutation DNP CC TT TT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:118849898_118849899CC>TT uc001pui.3 + 2 593_594 c.368_369CC>TT c.(367-369)tcc>tTT p.S123F FOXR1_uc001puj.3_Non-coding_Transcript|FOXR1_uc001puk.3_Missense_Mutation_p.P30F NM_181721 NP_859072 Q6PIV2 FOXR1_HUMAN Homo sapiens forkhead box R1 (FOXR1), mRNA. 123 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) TTTGCCTTTTCCCCCAGCACCT 0.599000 28 24 0 0 0.115264 0 0 TOM1L2 146691 broad.mit.edu 37 17 17797059 17797059 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:17797059G>A uc002grz.4 - 3 439 c.282C>T c.(280-282)ttC>ttT p.F94F TOM1L2_uc002gry.4_Intron|TOM1L2_uc010vwy.2_Silent_p.F94F|TOM1L2_uc010cpr.3_Silent_p.F94F|TOM1L2_uc010vwz.2_Intron|TOM1L2_uc010vxa.2_Silent_p.F94F|TOM1L2_uc010vxb.2_Intron NM_001082968 NP_001076437 Q6ZVM7 TM1L2_HUMAN Homo sapiens target of myb1-like 2 (chicken) (TOM1L2), transcript variant 3, mRNA. 94 VHS. intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) CACTGTCGATGAAATCTCGGT 0.517000 38 29 0 0 0.125774 0 0 MRPL40 64976 broad.mit.edu 37 22 19420819 19420819 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:19420819G>A uc002zpg.3 + 1 127 c.85G>A c.(85-87)Gag>Aag p.E29K HIRA_uc002zpf.1_5'Flank|HIRA_uc011agx.1_5'Flank|HIRA_uc010grn.1_5'Flank|HIRA_uc010gro.2_Intron|HIRA_uc010grp.3_Intron NM_003776 NP_003767 Q9NQ50 RM40_HUMAN Homo sapiens mitochondrial ribosomal protein L40 (MRPL40), nuclear gene encoding mitochondrial protein, mRNA. 29 anatomical structure morphogenesis mitochondrial ribosome|nucleus endometrium(1)|upper_aerodigestive_tract(1) 2 Colorectal(54;0.0993) GCAGCTTAGAGAGACTCACCA 0.493000 21 17 0 0 0.055883 0 0 CNTLN 54875 broad.mit.edu 37 9 17135129 17135129 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr9:17135129C>T uc003zmz.2 + 0 92 c.66C>T c.(64-66)tcC>tcT p.S22S CNTLN_uc003zmx.4_Silent_p.S22S|CNTLN_uc003zmy.3_Silent_p.S22S|CNTLN_uc003zmw.2_Silent_p.S22S NM_017738 NP_060208 Q9NXG0 CNTLN_HUMAN Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA. 22 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) GCCCCAGGTCCCCACGTGTTG 0.677000 29 22 0 0 0.083992 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146547 70146547 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:70146547C>T uc003hej.3 + 0 331 c.329C>T c.(328-330)tCa>tTa p.S110L UGT2B28_uc010ihr.3_Missense_Mutation_p.S110L NM_053039 NP_444267 Q9BY64 UDB28_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA. 110 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TTATATTTTTCACAAGAACAA 0.294000 75 45 0 0 0.139131 0 0 MUC2 4583 broad.mit.edu 37 11 1085976 1085976 + Missense_Mutation SNP T A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:1085976T>A uc001lsx.1 + 21 2843 c.2816T>A c.(2815-2817)aTc>aAc p.I939N NM_002457 NP_002448 Q02817 MUC2_HUMAN Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA. 939 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) CGTGTGGTGATCCAGCGTGAT 0.642000 35 16 0 0 0.038395 0 0 GTPBP1 9567 broad.mit.edu 37 22 39122010 39122010 + Splice_Site SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:39122010G>A uc003awg.3 + 7 1228 c.1074_splice c.e7-1 p.R358_splice NM_004286 NP_004277 O00178 GTPB1_HUMAN Homo sapiens GTP binding protein 1 (GTPBP1), mRNA. 358 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) CCTCTGCTTAGGATGTGCCCG 0.567000 108 63 0 0 0.139131 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:16918653C>T uc009vos.1 - 6 853 c.-35_splice c.e6+1 NBPF1_uc010oce.1_Intron NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 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) TCTTAACTTACTGTTGTGAAA 0.418000 70 4 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9063944 9063944 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:9063944C>T uc002mkp.3 - 2 23706 c.23502G>A c.(23500-23502)agG>agA p.R7834R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7836 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 CGCTGGACTCCCTCAATCCAG 0.547000 41 31 0 0 0.125774 0 0 GGT6 124975 broad.mit.edu 37 17 4461952 4461952 + Silent SNP T C C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:4461952T>C uc010vsc.2 - 3 918 c.858A>G c.(856-858)ggA>ggG p.G286G GGT6_uc010vsb.2_Silent_p.G132G|GGT6_uc002fyd.4_Silent_p.G280G|GGT6_uc002fyc.4_Silent_p.G248G NM_001122890 NP_001116362 Q6P531 GGT6_HUMAN Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA. 280 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 CCCCCAGGTCTCCCGCCAGTA 0.657000 13 3 0 0 0.029380 0 0 OR4M2 390538 broad.mit.edu 37 15 22369004 22369004 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr15:22369004C>T uc010tzu.2 + 0 527 c.429C>T c.(427-429)atC>atT p.I143I abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTGCTGTATCCTGGTGGCTC 0.507000 339 49 0 0 0.139131 0 0 RNF31 55072 broad.mit.edu 37 14 24620799 24620799 + Nonsense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:24620799C>T uc001wmn.1 + 9 2092 c.1843C>T c.(1843-1845)Caa>Taa p.Q615* RNF31_uc001wml.1_Nonsense_Mutation_p.Q464*|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Nonsense_Mutation_p.Q374*|RNF31_uc001wmo.1_Nonsense_Mutation_p.Q82*|RNF31_uc001wmp.3_Non-coding_Transcript NM_017999 NP_060469 Q96EP0 RNF31_HUMAN Homo sapiens ring finger protein 31 (RNF31), mRNA. 615 Interaction with RBCK1.|UBA. CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination CD40 receptor complex|LUBAC complex|internal side of plasma membrane ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) GCTACAGCGCCAACGCCTAGA 0.642000 36 18 0 0 0.038395 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969002 47969002 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:47969002G>A uc010ele.3 - 0 675 c.659C>T c.(658-660)tCc>tTc p.S220F SLC8A2_uc002pgx.3_Missense_Mutation_p.S220F|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron Q9UPR5 NAC2_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA. 220 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CACACCGGGGGAAAAAACAGC 0.507000 9 12 0 0 0.105934 0 0 CNOT1 23019 broad.mit.edu 37 16 58612679 58612679 + Missense_Mutation SNP A C C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:58612679A>C uc002env.3 - 12 1801 c.1508T>G c.(1507-1509)aTc>aGc p.I503S CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.I503S|CNOT1_uc002enx.3_Missense_Mutation_p.I503S|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA. 503 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 87 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CAGAGTGGAGATAAGTTCATG 0.448000 38 31 0 0 0.144211 0 0 PMS2 5395 broad.mit.edu 37 7 6042088 6042088 + Missense_Mutation SNP T C C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:6042088T>C uc003spl.3 - 4 620 c.533A>G c.(532-534)aAg>aGg p.K178R PMS2_uc003spj.3_Missense_Mutation_p.K72R|PMS2_uc003spk.3_Missense_Mutation_p.K43R|PMS2_uc011jwl.2_Missense_Mutation_p.K43R|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.K178R|PMS2_uc010ktf.2_Missense_Mutation_p.K178R NM_000535 NP_000526 P54278 PMS2_HUMAN Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA. 178 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) CTGTACCTTCTTAATATTCCT 0.418000 """Mis, N, F""" """colorectal, endometrial, ovarian, medulloblastoma, glioma""" Direct reversal of damage;Mismatch excision repair (MMR) Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 64 129 0 0 0.139131 0 0 IL12RB1 3594 broad.mit.edu 37 19 18193075 18193075 + Splice_Site SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:18193075C>T uc002nhx.1 - 4 296 c.245_splice c.e4-1 p.G82_splice IL12RB1_uc002nhw.1_Splice_Site_p.G42_splice|IL12RB1_uc010xqb.1_Splice_Site_p.G42_splice|IL12RB1_uc002nhy.3_Splice_Site_p.G42_splice NM_005535 NP_005526 P42701 I12R1_HUMAN Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA. 42 Fibronectin type-III 1. 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 GAGGCCGAGCCTGGAAGAGAT 0.552000 12 7 0 0 0.038147 0 0 abParts 0 broad.mit.edu 37 2 90199118 90199118 + RNA SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:90199118C>T uc010yts.2 + 35 c.4512C>T Parts of antibodies, mostly variable regions. GGACAGATTTCACTCTCACTA 0.488000 379 116 0 0 0.139131 0 0 MGAT4B 11282 broad.mit.edu 37 5 179225962 179225963 + Missense_Mutation DNP GG AA AA TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:179225962_179225963GG>AA uc003mkr.3 - 9 2117_2118 c.1353_1354CC>TT c.(1351-1356)atccgc>atTTgc p.R452C MGAT4B_uc003mkp.3_Missense_Mutation_p.R291C|MGAT4B_uc003mkq.3_Missense_Mutation_p.P212L|MGAT4B_uc003mks.3_Missense_Mutation_p.R437C|MIR1229_uc021yjg.1_5'Flank NM_054013 NP_463459 Q9UQ53 MGT4B_HUMAN Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B (MGAT4B), transcript variant 2, mRNA. 437 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding p.R452H(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 13 all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGCGGAAGCGGATGAAGTCCC 0.629000 54 20 0 0 0.115264 0 0 LDHB 3945 broad.mit.edu 37 12 21797036 21797036 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:21797036G>A uc001rfd.3 - 3 587 c.254C>T c.(253-255)tCt>tTt p.S85F LDHB_uc001rfe.3_Missense_Mutation_p.S85F NM_001174097 NP_002291 P07195 LDHB_HUMAN Homo sapiens lactate dehydrogenase B (LDHB), transcript variant 2, mRNA. 85 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 26 NADH(DB00157) GGCAGTCACAGAATAATCTTT 0.373000 17 13 0 0 0.105934 0 0 PSG3 5671 broad.mit.edu 37 19 43383679 43383679 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:43383679G>A uc002ovd.1 - 0 193 c.55C>T c.(55-57)Ctg>Ttg p.L19L PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.L19L|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.L19L|PSG3_uc002ova.2_Silent_p.L19L|PSG3_uc002ouz.2_Silent_p.L19L|PSG3_uc002ovb.3_Silent_p.L19L NM_006905 NP_008836 Q16557 PSG3_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA. 19 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) CCTGTGAGCAGGAGCCCCTTC 0.552000 70 47 0 0 0.139131 0 0 CFI 3426 broad.mit.edu 37 4 110662237 110662237 + Nonsense_Mutation SNP T A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:110662237T>A uc011cft.2 - 13 1796 c.1588A>T c.(1588-1590)Aaa>Taa p.K530* CFI_uc003hzq.3_Nonsense_Mutation_p.K319*|CFI_uc003hzr.4_Nonsense_Mutation_p.K522* NM_000204 NP_000195 P05156 CFAI_HUMAN Homo sapiens complement factor I (CFI), mRNA. 522 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) GAGTCCCCTTTACAGGCATCG 0.453000 113 75 0 0 0.139131 0 0 IGH 0 broad.mit.edu 37 16 33020700 33020700 + RNA SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:33020700C>T uc021thd.1 + 0 c.48C>T Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h. p.S36S(1) CTGGGGGGTCCCTGAGACTGT 0.582000 101 55 0 0 0.139131 0 0 MUC16 94025 broad.mit.edu 37 19 9070509 9070509 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:9070509G>A uc002mkp.3 - 2 17141 c.16937C>T c.(16936-16938)tCc>tTc p.S5646F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5648 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 TGATGTGGAGGAAACAGGAGA 0.517000 23 16 0 0 0.038395 0 0 USP6 9098 broad.mit.edu 37 17 5049436 5049436 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:5049436C>T uc002gau.1 + 27 4516 c.2286C>T c.(2284-2286)atC>atT p.I762I USP6_uc002gav.1_Silent_p.I762I|USP6_uc010ckz.1_Silent_p.I445I NM_004505 NP_004496 P35125 UBP6_HUMAN Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA. 762 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CAGAACAAATCCTACTAGCAG 0.348000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 75 40 0 0 0.117977 0 0 NPY2R 4887 broad.mit.edu 37 4 156136099 156136099 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:156136099C>T uc003ioq.3 + 1 1497 c.1008C>T c.(1006-1008)ttC>ttT p.F336F NPY2R_uc003ior.3_Silent_p.F336F|NPY2R_uc021xtm.1_Silent_p.F336F NM_000910 NP_000901 P49146 NPY2R_HUMAN Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA. 336 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) GAAAGGCTTTCCTCTCGGCCT 0.498000 61 32 0 0 0.054565 0 0 PITX1 5307 broad.mit.edu 37 5 134364509 134364509 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:134364509C>T uc010jea.3 - 2 1298 c.905G>A c.(904-906)gGc>gAc p.G302D NM_002653 NP_002644 P78337 PITX1_HUMAN Homo sapiens paired-like homeodomain 1 (PITX1), mRNA. 302 nucleolus sequence-specific DNA binding central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) READ - Rectum adenocarcinoma(2;0.0607) CGAGGCCGGGCCCTGCAGGCC 0.731000 14 5 0 0 0.014758 0 0 SCN9A 6335 broad.mit.edu 37 2 167168163 167168163 + Missense_Mutation SNP G T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:167168163G>T uc010fpl.3 - 1 445 c.104C>A c.(103-105)cCc>cAc p.P35H NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 35 voltage-gated sodium channel complex voltage-gated sodium channel activity p.E34Q(2) NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TTCTTCTTTGGGTTCCTTTGA 0.473000 81 32 1.62565e-12 1.82091e-12 0.050027 1 0 MPP6 51678 broad.mit.edu 37 7 24703239 24703240 + Missense_Mutation DNP CC TT TT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:24703239_24703240CC>TT uc003swx.3 + 6 981_982 c.682_683CC>TT c.(682-684)cca>TTa p.P228L MPP6_uc003swy.3_Missense_Mutation_p.P228L NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA. 228 SH3. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TGATTATAATCCATACAATGAC 0.327000 60 7 0 0 0.115264 0 0 KIT 3815 broad.mit.edu 37 4 55564559 55564559 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:55564559G>A uc010igr.3 + 2 534 c.447G>A c.(445-447)aaG>aaA p.K149K KIT_uc010igs.3_Silent_p.K149K NM_000222 NP_000213 P10721 KIT_HUMAN Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA. 149 Ig-like C2-type 2. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) ATTCCCTCAAGGGGTGCCAGG 0.532000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 24 19 0 0 0.055883 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140307888 140307888 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:140307888G>A uc003lih.2 + 0 1587 c.1411G>A c.(1411-1413)Gac>Aac p.D471N PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.D471N NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 495 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) GTTTGCCCAGGACCCCGACCT 0.522000 64 52 0 0 0.139131 0 0 OMP 4975 broad.mit.edu 37 11 76814343 76814343 + Missense_Mutation SNP A T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:76814343A>T uc010rsk.2 + 0 458 c.458A>T c.(457-459)aAc>aTc p.N153I CAPN5_uc001oxx.3_Intron|CAPN5_uc009yup.3_Intron|CAPN5_uc009yuq.3_Intron|CAPN5_uc001oxy.3_Intron NM_006189 NP_006180 P47874 OMP_HUMAN Homo sapiens olfactory marker protein (OMP), mRNA. 153 sensory perception of smell|synaptic transmission endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 GAGCCCGCCAACCTCAAGGCC 0.632000 57 39 0 0 0.104719 0 0 OVCH1 341350 broad.mit.edu 37 12 29640654 29640654 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:29640654C>T uc001rix.1 - 6 864 c.864G>A c.(862-864)atG>atA p.M288I NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN Homo sapiens ovochymase 1 (OVCH1), mRNA. 288 CUB 1.|Peptidase S1 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) tgataaaatccatcaactcag 0.423000 6 5 0 0 0.014758 0 0 DBI 1622 broad.mit.edu 37 2 120125788 120125788 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:120125788G>A uc002tlv.3 + 1 158 c.34G>A c.(34-36)Gag>Aag p.E12K C2orf76_uc010flf.1_5'Flank|C2orf76_uc002tls.2_5'Flank|C2orf76_uc010yyg.1_5'Flank|C2orf76_uc002tlt.2_5'Flank|C2orf76_uc002tlu.2_5'Flank|DBI_uc010yyj.2_Non-coding_Transcript|DBI_uc010yyi.2_Missense_Mutation_p.E29K|DBI_uc010yyk.2_Missense_Mutation_p.E54K|DBI_uc010yyh.2_Missense_Mutation_p.E29K|DBI_uc010yyl.2_Missense_Mutation_p.E29K|DBI_uc010yym.2_Missense_Mutation_p.E22K|DBI_uc010yyn.2_Missense_Mutation_p.E29K|DBI_uc002tlw.3_Missense_Mutation_p.E29K|DBI_uc010yyo.2_Non-coding_Transcript|DBI_uc021vnj.1_Missense_Mutation_p.E73K|DBI_uc002tlx.3_Missense_Mutation_p.E13K|DBI_uc010yyp.1_5'Flank NM_001079862 NP_001073331 P07108 ACBP_HUMAN Homo sapiens diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein) (DBI), transcript variant 3, mRNA. 12 ACB. transport benzodiazepine receptor binding|fatty-acyl-CoA binding p.A11S(1) kidney(1)|lung(4)|skin(1) 6 AGCTGCAGAGGAGGTTAGGCA 0.507000 48 63 0 0 0.139131 0 0 PTPRK 5796 broad.mit.edu 37 6 128304508 128304508 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:128304508C>T uc003qbk.3 - 22 3630 c.3263G>A c.(3262-3264)cGa>cAa p.R1088Q PTPRK_uc010kfc.3_Missense_Mutation_p.R1095Q|PTPRK_uc003qbj.3_Missense_Mutation_p.R1089Q|PTPRK_uc011ebu.2_Missense_Mutation_p.R1111Q NM_002844 NP_002835 Q15262 PTPRK_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA. 1088 Substrate binding (By similarity).|Tyrosine-protein phosphatase 1. cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GCAGCCAGTTCGTCCAGCACC 0.383000 3 14 0 0 0.146539 0 0 DAB2 1601 broad.mit.edu 37 5 39383036 39383036 + Missense_Mutation SNP T A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:39383036T>A uc003jlx.3 - 9 1556 c.1025A>T c.(1024-1026)tAc>tTc p.Y342F DAB2_uc003jlw.3_Missense_Mutation_p.Y321F NM_001343 NP_001334 P98082 DAB2_HUMAN Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA. 342 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) CTGACCAAAGTAGTCAACATC 0.493000 40 28 0 0 0.125774 0 0 DET1 55070 broad.mit.edu 37 15 89073889 89073890 + Missense_Mutation DNP CC TA TA TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr15:89073889_89073890CC>TA uc002bmq.2 - 2 1269_1270 c.1080_1081GG>TA c.(1078-1083)gaggat>gaTAat p.360_361ED>DN DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.349_350ED>DN|DET1_uc010bnk.2_Non-coding_Transcript NM_017996 NP_001137546 Q7L5Y6 DET1_HUMAN Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA. 349 nucleus endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Lung NSC(78;0.105)|all_lung(78;0.182) BRCA - Breast invasive adenocarcinoma(143;0.188) GTTACTACATCCTCACTAGTGT 0.455000 38 12 0 0 0.115264 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21015417 21015417 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:21015417G>A uc010sil.2 + 4 618 c.553G>A c.(553-555)Gaa>Aaa p.E185K SLCO1B3_uc001rek.3_Missense_Mutation_p.E185K|SLCO1B3_uc001rel.3_Missense_Mutation_p.E185K|SLCO1B3_uc010sim.2_Intron Q9NPD5 SO1B3_HUMAN Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA. 185 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) TGGCATAGGGGAAACCCCCAT 0.373000 38 27 0 0 0.134883 0 0 SEMA3A 10371 broad.mit.edu 37 7 83606496 83606496 + Missense_Mutation SNP C G G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:83606496C>G uc003uhz.3 - 14 1984 c.1669G>C c.(1669-1671)Gat>Cat p.D557H NM_006080 NP_006071 Q14563 SEM3A_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA. 557 axon guidance extracellular region|membrane receptor activity breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 TTTCTTATATCTTGTCGTCTT 0.348000 36 73 0 0 0.139131 0 0 COL4A1 1282 broad.mit.edu 37 13 110850940 110850940 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr13:110850940G>A uc001vqw.4 - 20 1281 c.1159C>T c.(1159-1161)Cct>Tct p.P387S NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 387 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CTTTCACCAGGGAAGCCAGGG 0.572000 87 35 0 0 0.092188 0 0 GIMAP6 474344 broad.mit.edu 37 7 150325586 150325586 + Nonsense_Mutation SNP C A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:150325586C>A uc022apv.1 - 2 790 c.310G>T c.(310-312)Gaa>Taa p.E104* GIMAP6_uc003whn.3_Nonsense_Mutation_p.E34*|GIMAP6_uc003whm.3_Intron NM_001244072 NP_001231001 Q6P9H5 GIMA6_HUMAN Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA. 34 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GTCTTCTGTTCTTTCTCCCTT 0.527000 433 72 3.89499e-28 4.42462e-28 0.139131 1 0 CELSR1 9620 broad.mit.edu 37 22 46859638 46859638 + Silent SNP G A A rs142490459 byFrequency TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:46859638G>A uc003bhw.1 - 1 4149 c.4149C>T c.(4147-4149)ggC>ggT p.G1383G NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 1383 EGF-like 2; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) AGGTGTAGCCGCCCTCGCGGC 0.682000 15 9 0 0 0.058154 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724523 38724523 + Nonsense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:38724523C>T uc001wum.1 - 0 1052 c.705G>A c.(703-705)tgG>tgA p.W235* NM_175060 NP_778230 Q86T13 CLC14_HUMAN Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA. 235 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) AGAGTTTGTCCCAGCGAGCGC 0.622000 106 77 0 0 0.139131 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175539 143175539 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:143175539C>T uc003wdc.1 + 0 574 c.574C>T c.(574-576)Cct>Tct p.P192S LOC285965_uc003wda.3_Intron NM_176883 NP_795364 P59536 T2R41_HUMAN Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA. 192 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CTGGTCAATTCCTTTTTCTGT 0.403000 71 28 0 0 0.116897 0 0 EXTL3 2137 broad.mit.edu 37 8 28574773 28574773 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:28574773C>T uc003xgz.1 + 2 1790 c.1197C>T c.(1195-1197)acC>acT p.T399T NM_001440 NP_001431 O43909 EXTL3_HUMAN Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA. 399 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TGGAATTCACCTGCAAAAACC 0.602000 21 19 0 0 0.043863 0 0 ZMYM1 79830 broad.mit.edu 37 1 35580024 35580024 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:35580024C>T uc001bym.3 + 9 2739 c.2593C>T c.(2593-2595)Ctg>Ttg p.L865L ZMYM1_uc001byn.3_Silent_p.L865L|ZMYM1_uc010ohu.2_Silent_p.L846L|ZMYM1_uc001byo.3_Silent_p.L505L|ZMYM1_uc009vut.3_Silent_p.L790L NM_024772 NP_079048 Q5SVZ6 ZMYM1_HUMAN Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA. 865 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TTTGAAATTCCTGTATCGAGT 0.328000 20 15 0 0 0.119110 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24892958 24892958 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr13:24892958G>A uc001upj.3 + 2 230 c.169G>A c.(169-171)Gaa>Aaa p.E57K SPATA13_uc001upe.3_Non-coding_Transcript NM_178540 NP_848635 P0C862 C1T9A_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA. 57 Collagen-like 1. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) CCACCTAGGAGAACCAGGACG 0.498000 55 73 0 0 0.139131 0 0 POLR2A 5430 broad.mit.edu 37 17 7400322 7400322 + Silent SNP C T T rs142508418 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:7400322C>T uc002ghf.4 + 4 1163 c.777C>T c.(775-777)tcC>tcT p.S259S POLR2A_uc002ghe.3_Silent_p.S259S NM_000937 NP_000928 P24928 RPB1_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA. 259 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) CCCCGCTCTCCGTGCGGCCTG 0.607000 8 13 0 0 0.146539 0 0 KCNA10 3744 broad.mit.edu 37 1 111060906 111060906 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:111060906G>A uc001dzt.1 - 0 892 c.504C>T c.(502-504)ttC>ttT p.F168F NM_005549 NP_005540 Q16322 KCA10_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA. 168 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) CCAGCTCATAGAAGGAGATTT 0.483000 30 30 0 0 0.125774 0 0 FSHR 2492 broad.mit.edu 37 2 49191042 49191042 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:49191042C>T uc002rww.3 - 9 1028 c.918G>A c.(916-918)caG>caA p.Q306Q FSHR_uc010fbn.3_Silent_p.Q280Q|FSHR_uc002rwx.3_Silent_p.Q244Q NM_000145 NP_000136 P23945 FSHR_HUMAN Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA. 306 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) GACCCCTAGCCTGAGTCATAT 0.388000 Gonadal Dysgenesis, 46 XX 130 47 0 0 0.139131 0 0 AMZ2P1 201283 broad.mit.edu 37 17 62968690 62968690 + RNA SNP A G G rs138671696 by1000genomes TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:62968690A>G uc002jez.3 - 3 c.641T>C AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA. AAAATTCCACAAGTCTCTTGG 0.373000 88 4 0 0 0.009096 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86542394 86542394 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:86542394G>A uc011kha.2 - 13 2043 c.1858C>T c.(1858-1860)Ccc>Tcc p.P620S KIAA1324L_uc003uie.3_Missense_Mutation_p.P453S|KIAA1324L_uc011kgz.2_Missense_Mutation_p.P506S|KIAA1324L_uc003uif.2_Missense_Mutation_p.P372S NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA. 620 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GGAGGGCAGGGGACACACGAT 0.527000 28 64 0 0 0.139131 0 0 ZNF219 51222 broad.mit.edu 37 14 21560062 21560062 + Missense_Mutation SNP G C C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:21560062G>C uc001vzr.2 - 2 1815 c.1394C>G c.(1393-1395)tCt>tGt p.S465C ZNF219_uc001vzs.2_Missense_Mutation_p.S465C|ZNF219_uc010aik.1_Missense_Mutation_p.S465C NM_016423 NP_057507 Q9P2Y4 ZN219_HUMAN Homo sapiens zinc finger protein 219 (ZNF219), transcript variant 1, mRNA. 465 negative regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2) 8 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08) GBM - Glioblastoma multiforme(265;0.0191) CCCAGCAGCAGAGGCAGAGTG 0.706000 20 3 0 0 0.115264 0 0 ZNF212 7988 broad.mit.edu 37 7 148947803 148947803 + Missense_Mutation SNP G C C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:148947803G>C uc003wfp.3 + 2 574 c.446G>C c.(445-447)tGt>tCt p.C149S NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN Homo sapiens zinc finger protein 212 (ZNF212), mRNA. 149 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GATGGCGTCTGTTTCACCGAG 0.502000 184 19 0 0 0.055883 0 0 CDH22 64405 broad.mit.edu 37 20 44869728 44869728 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr20:44869728G>A uc002xrm.2 - 1 823 c.424C>T c.(424-426)Cgc>Tgc p.R142C CDH22_uc010ghk.1_Missense_Mutation_p.R142C NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN Homo sapiens cadherin 22, type 2 (CDH22), mRNA. 142 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R142S(2) endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TTGGTGGCGCGATCCCGAGCC 0.607000 38 66 0 0 0.139131 0 0 LIFR 3977 broad.mit.edu 37 5 38523673 38523673 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:38523673C>T uc010ive.1 - 4 741 c.409G>A c.(409-411)Gat>Aat p.D137N LIFR_uc003jli.2_Missense_Mutation_p.D137N NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 137 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) TCTGGAGTATCTGGAATTAAG 0.338000 T PLAG1 salivary adenoma 53 34 0 0 0.080422 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917466 48917466 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:48917466G>A uc002isv.4 + 1 1511 c.817G>A c.(817-819)Gtc>Atc p.V273I WFIKKN2_uc010dbu.3_Missense_Mutation_p.V180I NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA. 273 Ig-like C2-type. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) TGCCCAGCTGGTCATCTATAA 0.602000 24 34 0 0 0.054565 0 0 OR52L1 338751 broad.mit.edu 37 11 6007636 6007636 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:6007636G>A uc001mcd.2 - 0 580 c.525C>T c.(523-525)atC>atT p.I175I NM_001005173 NP_001005173 Q8NGH7 O52L1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA. 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGGAAGGGGATAAGGAGTA 0.498000 53 37 0 0 0.064281 0 0 ZNF777 27153 broad.mit.edu 37 7 149152756 149152757 + Missense_Mutation DNP GG AA AA TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:149152756_149152757GG>AA uc003wfv.3 - 1 520_521 c.357_358CC>TT c.(355-360)tcccac>tcTTac p.H120Y NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN Homo sapiens zinc finger protein 777 (ZNF777), mRNA. 120 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TGGGGGGAGTGGGAGAGAAGGG 0.609000 291 38 0 0 0.115264 0 0 C7 730 broad.mit.edu 37 5 40947800 40947800 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:40947800G>A uc003jmh.3 + 7 949 c.835G>A c.(835-837)Gag>Aag p.E279K C7_uc011cpn.1_Intron NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 279 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) ATTCTGGAAGGAGCTTTCCCA 0.453000 27 22 0 0 0.076483 0 0 GLI2 2736 broad.mit.edu 37 2 121745822 121745822 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:121745822G>A uc010flp.3 + 12 2362 c.2332G>A c.(2332-2334)Ggg>Agg p.G778R GLI2_uc002tmq.1_Missense_Mutation_p.G450R|GLI2_uc002tmr.1_Missense_Mutation_p.G433R|GLI2_uc002tmt.4_Missense_Mutation_p.G450R|GLI2_uc002tmu.4_Missense_Mutation_p.G433R NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 778 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 p.G777G(1) 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) Tgggggcggcgggcccgcggg 0.697000 9 14 0 0 0.132662 0 0 MMP15 4324 broad.mit.edu 37 16 58073885 58073885 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:58073885C>T uc002ena.3 + 3 1520 c.547C>T c.(547-549)Ccc>Tcc p.P183S NM_002428 NP_002419 P51511 MMP15_HUMAN Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA. 183 protein modification process|proteolysis extracellular matrix|integral to plasma membrane calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 18 CCAGGAGGTGCCCTATGAGGA 0.642000 42 22 0 0 0.069288 0 0 KDM6B 23135 broad.mit.edu 37 17 7752119 7752119 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:7752119C>T uc002gix.3 + 0 1256 c.419C>T c.(418-420)tCc>tTc p.S140F KDM6B_uc002giw.1_Missense_Mutation_p.S838F NM_001080424 NP_001073893 O15054 KDM6B_HUMAN Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA. 838 inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5) 37 ACTCAGTATTCCCCTGGCCCC 0.647000 59 45 0 0 0.139131 0 0 OR10J3 441911 broad.mit.edu 37 1 159284004 159284004 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:159284004G>A uc010piu.2 - 0 446 c.446C>T c.(445-447)tCa>tTa p.S149L NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA. 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) AATCCCCAGTGATCCAGAGGC 0.512000 29 23 0 0 0.083992 0 0 NPY5R 4889 broad.mit.edu 37 4 164271957 164271957 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:164271957C>T uc003iqn.3 + 3 714 c.532C>T c.(532-534)Cac>Tac p.H178Y NPY5R_uc021xtw.1_Missense_Mutation_p.H178Y NM_006174 NP_006165 Q15761 NPY5R_HUMAN Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA. 178 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TCCAGTGTTTCACAGTCTTGT 0.413000 101 92 0 0 0.139131 0 0 ITGA4 3676 broad.mit.edu 37 2 182339762 182339762 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:182339762C>T uc002unu.3 + 2 1158 c.395C>T c.(394-396)tCc>tTc p.S132F ITGA4_uc010zfl.1_Missense_Mutation_p.S132F NM_000885 NP_000876 P13612 ITA4_HUMAN Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA. 132 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GTCACACTTTCCAGACAGCCA 0.443000 34 12 0 0 0.119110 0 0 BCL11A 53335 broad.mit.edu 37 2 60688589 60688589 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:60688589C>T uc002sae.1 - 3 1686 c.1458G>A c.(1456-1458)gaG>gaA p.E486E BCL11A_uc002sab.3_Silent_p.E486E|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.E155E|BCL11A_uc010ypj.2_Silent_p.E452E|BCL11A_uc002sad.1_Silent_p.E334E|BCL11A_uc002saf.1_Silent_p.E452E NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 486 Glu-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) cctcctcttcctcctcgtccc 0.637000 T IGH@ B-CLL 81 99 0 0 0.139131 0 0 HYDIN 54768 broad.mit.edu 37 16 70896141 70896141 + Nonsense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:70896141G>A uc002ezr.3 - 68 11735 c.11584C>T c.(11584-11586)Cag>Tag p.Q3862* HYDIN_uc010cfy.3_Non-coding_Transcript NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 3863 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) TGACTAAGCTGATCTTTTTGA 0.577000 15 13 0 0 0.119110 0 0 CARD14 79092 broad.mit.edu 37 17 78178894 78178894 + Missense_Mutation SNP G C C rs147954634 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:78178894G>C uc002jxw.1 + 17 2653 c.2459G>C c.(2458-2460)cGg>cCg p.R820P CARD14_uc002jxt.1_Non-coding_Transcript NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA. 820 Guanylate kinase-like. R -> W (in dbSNP:rs11652075). activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) ACCCTGGTGCGGCCCCATCGA 0.667000 16 8 0 0 0.047766 0 0 PKDCC 91461 broad.mit.edu 37 2 42281233 42281233 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:42281233G>A uc002rsg.3 + 2 999 c.820G>A c.(820-822)Gtc>Atc p.V274I NM_138370 NP_612379 Q504Y2 PKDCC_HUMAN Homo sapiens protein kinase domain containing, cytoplasmic homolog (mouse) (PKDCC), mRNA. 274 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(2)|kidney(1)|lung(5) 8 ACTGGGCTCCGTCACTCTGCT 0.632000 55 11 0 0 0.080935 0 0 USP45 85015 broad.mit.edu 37 6 99893858 99893858 + Missense_Mutation SNP G C C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:99893858G>C uc003ppx.2 - 13 2323 c.1790C>G c.(1789-1791)tCt>tGt p.S597C USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Missense_Mutation_p.S277C NM_001080481 NP_001073950 Q70EL2 UBP45_HUMAN Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA. 597 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 22 all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133) BRCA - Breast invasive adenocarcinoma(108;0.0718) GGGACTATAAGACCTCAAATG 0.353000 5 18 0 0 0.033300 0 0 FAM123C 205147 broad.mit.edu 37 2 131519903 131519903 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:131519903C>T uc021voy.1 + 0 258 c.258C>T c.(256-258)ttC>ttT p.F86F FAM123C_uc002trw.2_Silent_p.F86F|FAM123C_uc010fmv.2_Silent_p.F86F|FAM123C_uc010fms.1_Silent_p.F86F|FAM123C_uc010fmt.1_Silent_p.F86F|FAM123C_uc010fmu.1_Silent_p.F86F NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 86 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GAGCCACCTTCAAACCGGTGC 0.652000 10 12 0 0 0.093190 0 0 PRDM9 56979 broad.mit.edu 37 5 23523410 23523410 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:23523410G>A uc003jgo.3 + 8 1075 c.893G>A c.(892-894)gGg>gAg p.G298E NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 298 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.K297*(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ATCACCAAGGGGAGAAACTGC 0.438000 HNSCC(3;0.000094) 51 37 0 0 0.098360 0 0 MARK3 4140 broad.mit.edu 37 14 103871440 103871440 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:103871440G>A uc001ymz.4 + 1 745 c.79G>A c.(79-81)Gaa>Aaa p.E27K MARK3_uc001ymx.4_Missense_Mutation_p.E27K|MARK3_uc001ymw.4_Missense_Mutation_p.E27K|MARK3_uc001yna.4_Missense_Mutation_p.E27K|MARK3_uc001ymy.4_Missense_Mutation_p.E27K|MARK3_uc010awp.3_Missense_Mutation_p.E27K NM_001128918 NP_001122390 P27448 MARK3_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA. 27 ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) TGGGCGTCAAGAAGTTACCTC 0.463000 27 19 0 0 0.043863 0 0 MPP7 143098 broad.mit.edu 37 10 28347511 28347511 + Nonsense_Mutation SNP A T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:28347511A>T uc001iua.1 - 16 1724 c.1320T>A c.(1318-1320)taT>taA p.Y440* MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Nonsense_Mutation_p.Y440*|MPP7_uc009xla.2_Nonsense_Mutation_p.Y440*|MPP7_uc010qdv.1_Non-coding_Transcript NM_173496 NP_775767 Q5T2T1 MPP7_HUMAN Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA. 440 Guanylate kinase-like. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 AGTTGTTTTTATATTCTCCAT 0.303000 91 51 0 0 0.139131 0 0 GTPBP4 23560 broad.mit.edu 37 10 1041878 1041878 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:1041878C>T uc001ift.3 + 2 300 c.229C>T c.(229-231)Ccg>Tcg p.P77S GTPBP4_uc010qac.1_Intron|GTPBP4_uc010qad.2_Intron|GTPBP4_uc010qae.2_Missense_Mutation_p.P30S NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN Homo sapiens GTP binding protein 4 (GTPBP4), mRNA. 77 negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding p.P77L(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GGATATTCATCCGTTCTATGC 0.413000 11 15 0 0 0.146539 0 0 RB1CC1 9821 broad.mit.edu 37 8 53596543 53596543 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:53596543G>A uc003xre.4 - 3 660 c.102C>T c.(100-102)agC>agT p.S34S RB1CC1_uc003xrf.4_Silent_p.S34S NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA. 34 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TCTTGTATTTGCTTTGAATGG 0.403000 39 4 0 0 0.009096 0 0 ATP2A1 487 broad.mit.edu 37 16 28913196 28913196 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:28913196G>A uc002dro.1 + 15 2297 c.2113G>A c.(2113-2115)Gtc>Atc p.V705I NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V705I|ATP2A1_uc002drp.1_Missense_Mutation_p.V580I NM_173201 NP_775293 O14983 AT2A1_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA. 705 ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity p.G704C(1)|p.G704G(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 38 AGGTGATGGCGTCAATGACGC 0.537000 9 13 0 0 0.093190 0 0 PHKA2 5256 broad.mit.edu 37 X 18944674 18944674 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:18944674C>T uc004cyv.4 - 13 1786 c.1356G>A c.(1354-1356)aaG>aaA p.K452K PHKA2_uc010nfg.1_Non-coding_Transcript NM_000292 NP_000283 P46019 KPB2_HUMAN Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. 452 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TCAATAAGTCCTTAATGTGAT 0.453000 7 25 0 0 0.099896 0 0 MYH1 4619 broad.mit.edu 37 17 10399635 10399635 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:10399635C>T uc002gmo.3 - 33 4982 c.4888G>A c.(4888-4890)Gaa>Aaa p.E1630K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1630 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AGCTGGATTTCCATTTCATTG 0.498000 60 67 0 0 0.139131 0 0 SLC6A5 9152 broad.mit.edu 37 11 20676362 20676363 + Missense_Mutation DNP CC TT TT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:20676362_20676363CC>TT uc001mqd.3 + 15 2615_2616 c.2342_2343CC>TT c.(2341-2343)tcc>tTT p.S781F SLC6A5_uc009yic.3_Missense_Mutation_p.S546F NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA. 781 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 63 Glycine(DB00145) GGAACCTCTTCCTTGGGACTCA 0.554000 63 54 0 0 0.115264 0 0 PPP2R5A 5525 broad.mit.edu 37 1 212515562 212515562 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:212515562G>A uc001hjb.3 + 3 1087 c.513G>A c.(511-513)gaG>gaA p.E171E PPP2R5A_uc010ptd.2_Silent_p.E114E NM_006243 NP_006234 Q15172 2A5A_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA. 171 negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex kinase binding|protein phosphatase type 2A regulator activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1) 16 OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155) GATTTTTGGAGAGCCCTGATT 0.343000 46 29 0 0 0.144211 0 0 SSH1 54434 broad.mit.edu 37 12 109186226 109186226 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:109186226G>A uc001tnm.3 - 13 1816 c.1729C>T c.(1729-1731)Ccc>Tcc p.P577S SSH1_uc001tnl.3_Missense_Mutation_p.P265S|SSH1_uc010sxg.2_Missense_Mutation_p.P588S|SSH1_uc001tnn.4_Missense_Mutation_p.P577S NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA. 577 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CGACCTTTGGGACTCCCAAAC 0.617000 49 42 0 0 0.086207 0 0 CNTN5 53942 broad.mit.edu 37 11 99786873 99786873 + Missense_Mutation SNP A C C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:99786873A>C uc001pga.3 + 6 1169 c.665A>C c.(664-666)cAt>cCt p.H222P CNTN5_uc009ywv.2_Missense_Mutation_p.H222P|CNTN5_uc001pfz.3_Missense_Mutation_p.H222P|CNTN5_uc021qpb.1_Missense_Mutation_p.H222P|CNTN5_uc021qpc.1_Missense_Mutation_p.H148P NM_014361 NP_055176 O94779 CNTN5_HUMAN Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA. 222 Ig-like C2-type 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) CCTCCGCCACATTCACCAGGT 0.458000 21 3 0 0 0.115264 0 0 GRHL2 79977 broad.mit.edu 37 8 102631910 102631910 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:102631910G>A uc010mbu.3 + 8 1572 c.1242G>A c.(1240-1242)aaG>aaA p.K414K NM_024915 NP_079191 Q6ISB3 GRHL2_HUMAN Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA. 414 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) GCCAGATCAAGGTCTTCTGTG 0.333000 36 24 0 0 0.091800 0 0 PDE8B 8622 broad.mit.edu 37 5 76646915 76646915 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:76646915G>A uc003kfa.3 + 8 1088 c.1043G>A c.(1042-1044)aGa>aAa p.R348K PDE8B_uc003kfd.3_Missense_Mutation_p.R301K|PDE8B_uc003kfe.3_Intron|PDE8B_uc003kfb.3_Missense_Mutation_p.R328K|PDE8B_uc003kfc.3_Missense_Mutation_p.R348K NM_003719 NP_003710 O95263 PDE8B_HUMAN Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA. 348 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) TACTATGCCAGACGGAAATCC 0.507000 218 142 0 0 0.139131 0 0 RFX6 222546 broad.mit.edu 37 6 117241473 117241473 + Splice_Site SNP A G G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:117241473A>G uc003pxm.3 + 12 1246 c.1183_splice c.e12-1 p.I395_splice NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 395 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CTCTATGCAGATTGCCAGACC 0.358000 14 29 0 0 0.050027 0 0 GLG1 2734 broad.mit.edu 37 16 74496465 74496465 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:74496465C>T uc002fcx.3 - 20 2905 c.2855G>A c.(2854-2856)gGt>gAt p.G952D GLG1_uc002fcw.4_Missense_Mutation_p.G941D|GLG1_uc002fcy.4_Missense_Mutation_p.G952D|GLG1_uc002fcz.4_Missense_Mutation_p.G369D NM_012201 NP_036333 Q92896 GSLG1_HUMAN Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA. 952 Golgi membrane|integral to membrane receptor binding p.G952C(1) breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 AGTCAGGATACCGTGACAGAA 0.443000 35 18 0 0 0.033300 0 0 DSCAM 1826 broad.mit.edu 37 21 41516578 41516578 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr21:41516578G>A uc002yyq.1 - 16 3551 c.3099C>T c.(3097-3099)ttC>ttT p.F1033F 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. 1033 Fibronectin type-III 2. 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) TGTTGAATTGGAAGTTACCCC 0.483000 36 57 0 0 0.139131 0 0 INTS5 80789 broad.mit.edu 37 11 62415320 62415321 + Missense_Mutation DNP CC GT GT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:62415320_62415321CC>GT uc001nud.3 - 1 2284_2285 c.2231_2232GG>AC c.(2230-2232)ggg>gAC p.G744D GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank NM_030628 NP_085131 Q6P9B9 INT5_HUMAN Homo sapiens integrator complex subunit 5 (INTS5), mRNA. 744 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CTGACCAAATCCCTCCAGGACC 0.525000 28 21 0 0 0.115264 0 0 SATB2 23314 broad.mit.edu 37 2 200213622 200213622 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:200213622C>T uc002uuy.2 - 6 1792 c.975G>A c.(973-975)cgG>cgA p.R325R SATB2_uc010fsq.2_Silent_p.R207R|SATB2_uc002uva.2_Silent_p.R325R|SATB2_uc002uuz.2_Silent_p.R325R|SATB2_uc002uvb.1_Silent_p.R68R NM_001172509 NP_056080 Q9UPW6 SATB2_HUMAN Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA. 325 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GAGCCAGGAGCCGGCTAACGG 0.532000 112 20 0 0 0.069288 0 0 PTPRH 5794 broad.mit.edu 37 19 55707890 55707890 + Splice_Site SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:55707890C>T uc002qjq.3 - 10 2330 c.2257_splice c.e10+1 p.G753_splice PTPRH_uc010esv.3_Splice_Site_p.G575_splice|PTPRH_uc002qjs.2_Splice_Site_p.G760_splice NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA. 753 apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 67 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) CTCCGCTCACCTGCACTCTCG 0.592000 44 21 0 0 0.083992 0 0 ARID1A 8289 broad.mit.edu 37 1 27099360 27099361 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:27099360_27099361CC>TT uc001bmv.1 + 13 3970_3971 c.3597_3598CC>TT c.(3595-3600)ttccag>ttTTag p.Q1200* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1199*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1200*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q817*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q46*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1200 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ACTCCACATTCCAGAAGCGGAA 0.455000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 28 24 0 0 0.115264 0 0 GABRG1 2565 broad.mit.edu 37 4 46066470 46066470 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:46066470C>T uc003gxb.3 - 4 765 c.613G>A c.(613-615)Gaa>Aaa p.E205K NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA. 205 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CTTGAAAATTCCAGTGGACAG 0.274000 50 42 0 0 0.139131 0 0 ZNF48 197407 broad.mit.edu 37 16 30410306 30410306 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:30410306G>A uc002dya.2 + 1 2111 c.1735G>A c.(1735-1737)Ggt>Agt p.G579S ZNF48_uc021tgi.1_Missense_Mutation_p.G579S|ZNF48_uc021tgj.1_Missense_Mutation_p.G456S|ZNF48_uc021tgk.1_Missense_Mutation_p.G579S NM_152652 NP_001201836 Q96MX3 ZNF48_HUMAN Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA. 579 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1) 21 GTGTGGCAAGGGTTTTGGTGA 0.592000 60 40 0 0 0.086207 0 0 CUEDC2 79004 broad.mit.edu 37 10 104184490 104184490 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:104184490G>A uc001kvn.2 - 2 285 c.134C>T c.(133-135)tCg>tTg p.S45L CUEDC2_uc001kvm.2_5'Flank NM_024040 NP_076945 Q9H467 CUED2_HUMAN Homo sapiens CUE domain containing 2 (CUEDC2), mRNA. 45 cytoplasm|nucleus protein binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.122) Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TGATGGGCCCGAGGGGCCCAG 0.587000 59 24 0 0 0.108266 0 0 MUC3A 4584 broad.mit.edu 37 7 100606203 100606204 + Missense_Mutation DNP GG AA AA TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:100606203_100606204GG>AA uc003uxl.1 + 2 2219_2220 c.1419_1420GG>AA c.(1417-1422)gtggag>gtAAag p.E474K MUC3A_uc003uxk.1_Intron|MUC3A_uc010lhn.1_5'Flank SubName: Full=Intestinal mucin; Flags: Fragment; p.E574K(2) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CAGATGTAGTGGAGACCGAGGT 0.550000 14 5 0 0 0.115264 0 0 SLC15A4 121260 broad.mit.edu 37 12 129294521 129294521 + Missense_Mutation SNP C G G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:129294521C>G uc001uhu.2 - 2 1031 c.978G>C c.(976-978)ttG>ttC p.L326F SLC15A4_uc001uhv.2_Intron NM_145648 NP_663623 Q8N697 S15A4_HUMAN Homo sapiens solute carrier family 15, member 4 (SLC15A4), mRNA. 326 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1) 22 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05) GTATCAAAGCCAAGAAAACAG 0.393000 33 25 0 0 0.116897 0 0 MUC3A 4584 broad.mit.edu 37 7 100552614 100552614 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:100552614C>T uc003uxl.1 + 0 1865 c.1065C>T c.(1063-1065)atC>atT p.I355I MUC3A_uc003uxk.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCCCGACCATCCTGAGGACTT 0.567000 193 165 0 0 0.139131 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117544 117544 + RNA SNP G C C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrGL000205.1:117544G>C uc002kgk.4 + 0 c.922G>C Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. CGAAATTGCTGTGTGCAGCAT 0.592000 21 4 0 0 0.009096 0 0 TPTE 7179 broad.mit.edu 37 21 10920164 10920164 + Splice_Site SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr21:10920164C>T uc002yip.1 - 19 1458 c.1090_splice c.e19-1 p.E364_splice TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.E346_splice|TPTE_uc002yir.1_Splice_Site_p.E326_splice|TPTE_uc010gkv.1_Splice_Site_p.E226_splice NM_199261 NP_954870 P56180 TPTE_HUMAN Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA. 364 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) TACAGGCTTTCCTACAAAAAA 0.378000 110 6 0 0 0.038147 0 0 RRP1 8568 broad.mit.edu 37 21 45213219 45213219 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr21:45213219C>T uc002zds.2 + 3 387 c.294C>T c.(292-294)gcC>gcT p.A98A RRP1_uc011aez.1_Silent_p.A98A|RRP1_uc010gpl.1_5'UTR NM_003683 NP_003674 P56182 RRP1_HUMAN Homo sapiens ribosomal RNA processing 1 homolog (S. cerevisiae) (RRP1), mRNA. 98 rRNA processing nucleolus|preribosome, small subunit precursor central_nervous_system(1)|kidney(1)|lung(4)|stomach(2) 8 COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171) TCCTTCAGGCCTTCTGGCAGA 0.597000 125 47 0 0 0.139131 0 0 NPY1R 4886 broad.mit.edu 37 4 164247100 164247100 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:164247100G>A uc003iqm.2 - 1 1072 c.607C>T c.(607-609)Cca>Tca p.P203S NPY1R_uc021xtv.1_Missense_Mutation_p.P203S|NPY1R_uc011cjj.2_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA. 203 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GAGTCCGATGGAAATTGATCA 0.383000 15 10 0 0 0.069234 0 0 OR4K1 79544 broad.mit.edu 37 14 20404445 20404445 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:20404445C>T uc001vwj.2 + 0 679 c.620C>T c.(619-621)tCa>tTa p.S207L NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA. 207 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) GGCCTGATATCATTGAGCTGT 0.433000 39 27 0 0 0.091800 0 0 UGT2A1 10941 broad.mit.edu 37 4 70512848 70512848 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:70512848C>T uc011caq.2 - 1 631 c.515G>A c.(514-516)aGg>aAg p.R172K UGT2A1_uc010ihu.3_Missense_Mutation_p.R172K|UGT2A1_uc003hem.4_Missense_Mutation_p.R172K|UGT2A1_uc010iht.3_Missense_Mutation_p.R172K NM_001252274 NP_001239203 Q9Y4X1 UD2A1_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA. 172 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TGGAGAAAACCTCAAGGAGTA 0.423000 20 22 0 0 0.062417 0 0 GALNTL5 168391 broad.mit.edu 37 7 151699958 151699958 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:151699958G>A uc003wkp.3 + 5 1088 c.818G>A c.(817-819)aGg>aAg p.R273K GALNTL5_uc010lqf.3_Missense_Mutation_p.R162K|GALNTL5_uc003wkq.3_Missense_Mutation_p.R24K|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA. 273 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) CCTCTTGTAAGGGGAACTTTT 0.438000 170 60 0 0 0.139131 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69093746 69093746 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:69093746G>A uc003hdw.4 - 9 1270 c.1134C>T c.(1132-1134)atC>atT p.I378I NM_182502 NP_872308 Q86T26 TM11B_HUMAN Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA. 378 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 CAAGATGCCAGATATTTCTGG 0.368000 16 21 0 0 0.055883 0 0 FMN1 342184 broad.mit.edu 37 15 33359296 33359296 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr15:33359296C>T uc001zhf.4 - 0 790 c.790G>A c.(790-792)Gaa>Aaa p.E264K FMN1_uc001zhg.2_Missense_Mutation_p.E264K NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN Homo sapiens formin 1 (FMN1), mRNA. 389 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CCAGAGACTTCTTTTTTAGAA 0.512000 57 45 0 0 0.139131 0 0 SLC8A3 6547 broad.mit.edu 37 14 70527578 70527578 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:70527578C>T uc001xly.3 - 2 2617 c.1863G>A c.(1861-1863)ccG>ccA p.P621P SLC8A3_uc001xlv.3_5'UTR|SLC8A3_uc001xlu.3_Intron|SLC8A3_uc001xlw.3_Silent_p.P621P|SLC8A3_uc001xlx.3_Intron|SLC8A3_uc001xlz.3_Silent_p.P621P|SLC8A3_uc010ara.3_Intron|SLC8A3_uc001xma.2_Intron NM_183002 NP_892114 P57103 NAC3_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA. 621 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CCATCCATTTCGGTTCACCAA 0.343000 37 23 0 0 0.091800 0 0 MLLT10 8028 broad.mit.edu 37 10 21962686 21962686 + Nonsense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:21962686C>T uc021pny.1 + 9 1459 c.1459C>T c.(1459-1461)Caa>Taa p.Q487* MLLT10_uc001iqs.3_Nonsense_Mutation_p.Q487*|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Nonsense_Mutation_p.Q487*|MLLT10_uc001ira.3_5'UTR|MLLT10_uc001irb.3_Non-coding_Transcript NM_001195626 NP_001182555 P55197 AF10_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA. 487 DNA-binding. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 AAACAAAAATCAAGAGAATGT 0.403000 T """MLL, PICALM, CDK6""" AL 43 32 0 0 0.144211 0 0 ASB4 51666 broad.mit.edu 37 7 95115312 95115312 + Missense_Mutation SNP A T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:95115312A>T uc011kij.2 + 0 100 c.29A>T c.(28-30)aAa>aTa p.K10I ASB4_uc003unx.3_Missense_Mutation_p.K10I NM_016116 NP_057200 Q9Y574 ASB4_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA. 10 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CCTGTCACTAAATCTGGAGCT 0.468000 23 43 0 0 0.117977 0 0 OR14J1 442191 broad.mit.edu 37 6 29274491 29274491 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:29274491G>A uc011dln.2 + 0 25 c.25G>A c.(25-27)Gga>Aga p.G9R NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA. 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 TTCAATGAGTGGATTCCTTCT 0.418000 115 44 0 0 0.139131 0 0 TRPC6 7225 broad.mit.edu 37 11 101342100 101342100 + Missense_Mutation SNP C G G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:101342100C>G uc001pgk.4 - 8 2648 c.2223G>C c.(2221-2223)gaG>gaC p.E741D TRPC6_uc009ywy.3_Missense_Mutation_p.E625D|TRPC6_uc009ywz.1_Missense_Mutation_p.E686D NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 741 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CAAATTTCCACTCCACATCAG 0.438000 51 13 0 0 0.105934 0 0 C8orf80 389643 broad.mit.edu 37 8 27880870 27880870 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:27880870G>A uc003xgm.4 - 18 2498 c.2355C>T c.(2353-2355)tcC>tcT p.S785S NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA. 785 nucleus GTP binding|GTPase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1) 35 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) CCTTGCTGGGGGATGCCCTTA 0.537000 14 10 0 0 0.069234 0 0 CYP2B7P1 1556 broad.mit.edu 37 19 41442409 41442409 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:41442409G>A uc010ehg.1 + 2 455 c.447G>A c.(445-447)gaG>gaA p.E149E CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Silent_p.E149E|CYP2B7P1_uc002opq.3_Non-coding_Transcript Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA. NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 TTCAGGACGAGGCTCAGTGTC 0.542000 11 8 0 0 0.038147 0 0 NDST4 64579 broad.mit.edu 37 4 115891717 115891717 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:115891717C>T uc003ibu.3 - 3 1769 c.1090G>A c.(1090-1092)Gat>Aat p.D364N NDST4_uc010imw.3_Non-coding_Transcript NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 364 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AAAAGGTCATCTCCTTCATCT 0.378000 11 15 0 0 0.033300 0 0 IMPG1 3617 broad.mit.edu 37 6 76728571 76728571 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:76728571C>T uc003pik.1 - 6 801 c.671G>A c.(670-672)aGa>aAa p.R224K NM_001563 NP_001554 Q17R60 IMPG1_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA. 224 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) TTCTGTTTCTCTTTCCTGAGT 0.413000 3 15 0 0 0.038395 0 0 OR6K3 391114 broad.mit.edu 37 1 158686994 158686994 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:158686994G>A uc021pbn.1 - 0 912 c.912C>T c.(910-912)ttC>ttT p.F304F NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA. 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F320L(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TTTGAAGACAGAACAGTTTTT 0.393000 51 29 0 0 0.054565 0 0 ZNF827 152485 broad.mit.edu 37 4 146807227 146807227 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:146807227G>A uc003ikn.3 - 3 1398 c.1350C>T c.(1348-1350)ctC>ctT p.L450L ZNF827_uc003ikm.3_Silent_p.L450L|ZNF827_uc010iox.3_Silent_p.L100L NM_178835 NP_849157 Q17R98 ZN827_HUMAN Homo sapiens zinc finger protein 827 (ZNF827), mRNA. 450 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 all_hematologic(180;0.151) AACGCATGTGGAGTTTCAGGC 0.552000 12 23 0 0 0.069288 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23056848 23056848 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:23056848C>T uc003xda.3 - 7 1051 c.945G>A c.(943-945)atG>atA p.M315I NM_003844 NP_003835 O00220 TR10A_HUMAN Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA. 315 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) CCTGGCTTTCCATTTGCTGCT 0.582000 48 29 0 0 0.116897 0 0 TTN 7273 broad.mit.edu 37 2 179594029 179594029 + Missense_Mutation SNP C G G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:179594029C>G uc021vsy.1 - 60 15347 c.15122G>C c.(15121-15123)aGa>aCa p.R5041T TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R1702T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 5968 Ig-like 31. 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) CAGGGCAACTCTAGTACTGCA 0.403000 54 66 0 0 0.139131 0 0 OR8D2 283160 broad.mit.edu 37 11 124189546 124189546 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:124189546G>A uc010sah.2 - 0 548 c.548C>T c.(547-549)cCc>cTc p.P183L NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA. 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) AGTCAATAAGGGGAGAATATC 0.448000 53 6 0 0 0.021553 0 0 NOTCH3 4854 broad.mit.edu 37 19 15276800 15276800 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:15276800G>A uc002nan.3 - 29 5541 c.5465C>T c.(5464-5466)tCc>tTc p.S1822F NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 1822 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GATCAGGTCGGAGATGATGCT 0.607000 33 11 0 0 0.093190 0 0 STRAP 11171 broad.mit.edu 37 12 16036573 16036573 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:16036573G>A uc010shw.2 + 2 604 c.250G>A c.(250-252)Gcc>Acc p.A84T STRAP_uc001rdc.4_Missense_Mutation_p.A71T|STRAP_uc001rdd.4_Intron NM_007178 NP_009109 Q9Y3F4 STRAP_HUMAN Homo sapiens serine/threonine kinase receptor associated protein (STRAP), mRNA. 71 RNA splicing|mRNA processing cell junction|mitochondrion|spliceosomal complex identical protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 15 Hepatocellular(102;0.121) GAATAAGGATGCCACCAAAGC 0.453000 21 8 0 0 0.038147 0 0 PPM1E 22843 broad.mit.edu 37 17 57057398 57057398 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:57057398G>A uc002iwx.3 + 6 1401 c.1274G>A c.(1273-1275)gGg>gAg p.G425E PPM1E_uc010ddd.3_Missense_Mutation_p.G188E NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA. 434 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) GTTCTGGATGGGACCGAAGAC 0.493000 33 19 0 0 0.055883 0 0 MRPL45 84311 broad.mit.edu 37 17 36478143 36478143 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:36478143C>T uc002hpy.3 + 6 956 c.795C>T c.(793-795)atC>atT p.I265I NM_032351 NP_115727 Q9BRJ2 RM45_HUMAN Homo sapiens mitochondrial ribosomal protein L45 (MRPL45), nuclear gene encoding mitochondrial protein, mRNA. 265 intracellular protein transport|translation mitochondrial inner membrane presequence translocase complex|ribosome P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 13 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ATACCAAGATCGTTCCCCCAT 0.502000 OREG0024353 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 45 24 0 0 0.083992 0 0 NLRP9 338321 broad.mit.edu 37 19 56244384 56244384 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:56244384G>A uc002qly.3 - 1 841 c.813C>T c.(811-813)ctC>ctT p.L271L NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 271 NACHT. 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) ATGCAATAAGGAGAGAGGATT 0.408000 28 21 0 0 0.055883 0 0 PRRC2C 23215 broad.mit.edu 37 1 171560901 171560901 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:171560901C>T uc010pmg.2 + 33 8635 c.8369C>T c.(8368-8370)cCc>cTc p.P2790L PRRC2C_uc010pmh.2_Missense_Mutation_p.P1702L|PRRC2C_uc010pmi.2_Missense_Mutation_p.P706L|PRRC2C_uc010pmj.2_Missense_Mutation_p.P322L NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA. 1061 protein C-terminus binding GAAAAGCCACCCCCTGCACCC 0.473000 64 36 0 0 0.064281 0 0 CLVS1 157807 broad.mit.edu 37 8 62289202 62289202 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:62289202C>T uc003xuh.3 + 2 818 c.494C>T c.(493-495)tCa>tTa p.S165L CLVS1_uc003xug.2_Missense_Mutation_p.H164Y|CLVS1_uc003xui.3_Non-coding_Transcript NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN Homo sapiens clavesin 1 (CLVS1), mRNA. 165 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 ATCCTGCTGTCATTGGAAGTC 0.448000 41 34 0 0 0.104719 0 0 RBM47 54502 broad.mit.edu 37 4 40440476 40440476 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:40440476G>A uc003gvc.2 - 3 1145 c.435C>T c.(433-435)tgC>tgT p.C145C RBM47_uc003gvd.2_Silent_p.C145C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.C107C|RBM47_uc003gvg.1_Silent_p.C145C NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA. 145 RRM 1. nucleus RNA binding|nucleotide binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 CCACGCTGCAGCACACGCCGA 0.632000 23 20 0 0 0.062417 0 0 SLC14A1 6563 broad.mit.edu 37 18 43319189 43319189 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr18:43319189G>A uc010dnk.3 + 7 1115 c.893G>A c.(892-894)gGg>gAg p.G298E SLC14A1_uc002lbi.4_Missense_Mutation_p.G110E|SLC14A1_uc010xcn.2_Missense_Mutation_p.G242E|SLC14A1_uc002lbf.4_Missense_Mutation_p.G242E|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Missense_Mutation_p.G137E|SLC14A1_uc002lbh.4_Missense_Mutation_p.G134E|SLC14A1_uc002lbj.4_Missense_Mutation_p.G298E|SLC14A1_uc002lbk.4_Missense_Mutation_p.G242E|SLC14A1_uc021ujg.1_Intron NM_001128588 NP_056949 Q13336 UT1_HUMAN Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA. 242 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 CCATGGACAGGGGGCATTTTC 0.483000 33 36 0 0 0.086207 0 0 SYT1 6857 broad.mit.edu 37 12 79679682 79679682 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:79679682G>A uc001sys.3 + 5 953 c.282G>A c.(280-282)aaG>aaA p.K94K SYT1_uc001syt.3_Silent_p.K94K|SYT1_uc001syu.3_Silent_p.K94K|SYT1_uc001syv.3_Silent_p.K94K NM_001135805 NP_005630 P21579 SYT1_HUMAN Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA. 94 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 AGAAGGGAAAGGAAAAAGGAG 0.348000 22 12 0 0 0.080935 0 0 CACNA1F 778 broad.mit.edu 37 X 49061615 49061615 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:49061615G>A uc004dnb.3 - 47 5978 c.5916C>T c.(5914-5916)gcC>gcT p.A1972A CACNA1F_uc010nip.3_Silent_p.A1961A NM_005183 NP_005174 O60840 CAC1F_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA. 1972 axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) CGTGGACGCAGGCCATCTCGT 0.617000 1 12 0 0 0.093190 0 0 KXD1 79036 broad.mit.edu 37 19 18679426 18679426 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:18679426G>A uc021uqq.1 + 5 821 c.516G>A c.(514-516)gaG>gaA p.E172E KXD1_uc021uqr.1_Silent_p.E172E|KXD1_uc002njo.3_Silent_p.E172E|KXD1_uc002njq.3_Silent_p.E172E NM_001171948 NP_076974 Q9BQD3 CS050_HUMAN Homo sapiens KxDL motif containing 1 (KXD1), transcript variant 1, mRNA. 172 protein binding ATGACGAGGAGATGACGGGCG 0.647000 20 27 0 0 0.091800 0 0 SORL1 6653 broad.mit.edu 37 11 121358779 121358779 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:121358779C>T uc001pxx.3 + 3 696 c.567C>T c.(565-567)atC>atT p.I189I NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 189 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) ACCTCTGGATCACGTTTGACT 0.517000 204 71 0 0 0.139131 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596361 58596361 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:58596361G>A uc010yht.1 - 6 1422 c.1392C>T c.(1390-1392)tcC>tcT p.S464S ZSCAN18_uc002qrj.3_Silent_p.S407S|ZSCAN18_uc010yhs.1_Silent_p.S272S|ZSCAN18_uc002qrh.2_Silent_p.S408S|ZSCAN18_uc002qri.2_Silent_p.S408S|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145542 NP_001139014 Q8TBC5 ZSC18_HUMAN Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA. 408 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GCTTCCCGCGGGACAAGCCCG 0.726000 7 6 0 0 0.038147 0 0 ZNF160 90338 broad.mit.edu 37 19 53572028 53572028 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:53572028G>A uc010eqk.3 - 6 2175 c.1759C>T c.(1759-1761)Cat>Tat p.H587Y ZNF160_uc002qaq.4_Missense_Mutation_p.H587Y|ZNF160_uc002qar.4_Missense_Mutation_p.H587Y NM_001102603 NP_942596 Q9HCG1 ZN160_HUMAN Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA. 587 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TCTCCAGTATGAACTCTCCAA 0.413000 61 27 0 0 0.125774 0 0 X97876 0 broad.mit.edu 37 9 66499770 66499770 + Missense_Mutation SNP G T T rs75046133 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr9:66499770G>T uc004aee.1 + 0 580 c.580G>T c.(580-582)Gcc>Tcc p.A194S X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). CAACCTGGTGGCCATCGTGGT 0.582000 70 6 4.3838e-07 4.85609e-07 0.105934 1 0 DOCK11 139818 broad.mit.edu 37 X 117724265 117724265 + Splice_Site SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:117724265G>A uc004eqp.2 + 19 2202 c.2139_splice c.e19+1 p.E713_splice DOCK11_uc004eqq.2_Splice_Site_p.E479_splice NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA. 713 DHR-1. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TCTATGATGAGGTAAAAATAT 0.353000 6 34 0 0 0.064281 0 0 GPR115 221393 broad.mit.edu 37 6 47682430 47682430 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:47682430C>T uc003oyz.1 + 6 1620 c.1620C>T c.(1618-1620)ttC>ttT p.F540F GPR115_uc003oza.1_Silent_p.F483F|GPR115_uc003ozb.1_Silent_p.F483F|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 483 EPE -> GPV (in Ref. 6; AAO85068). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GCCACTTTTTCTACCTCTCTC 0.408000 194 69 0 0 0.139131 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98775115 98775115 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr9:98775115C>T uc010msa.2 + 3 2102 c.1226C>T c.(1225-1227)cCa>cTa p.P409L ERCC6L2_uc011lun.1_Intron Q5T890 RAD26_HUMAN RecName: Full=Uncharacterized protein C9orf102; 0 DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding ATAGAAAATCCAGTGCTGGAA 0.388000 4 28 0 0 0.125774 0 0 SPATA25 128497 broad.mit.edu 37 20 44515315 44515315 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr20:44515315C>T uc002xqf.3 - 1 534 c.525G>A c.(523-525)gaG>gaA p.E175E NM_080608 NP_542175 Q9BR10 CT165_HUMAN Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA. 175 integral to membrane AGATCAGGTCCTCTTCCCGAA 0.647000 47 77 0 0 0.139131 0 0 H2BFWT 158983 broad.mit.edu 37 X 103267877 103267877 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:103267877G>A uc004elr.3 - 0 380 c.356C>T c.(355-357)aCc>aTc p.T119I NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA. 119 nucleosome assembly nuclear membrane|nucleosome DNA binding breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 16 ACCAGCCTCGGTGGCGATGCG 0.652000 1 11 0 0 0.119110 0 0 NUAK1 9891 broad.mit.edu 37 12 106461156 106461156 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:106461156C>T uc001tlj.1 - 6 2790 c.1410G>A c.(1408-1410)aaG>aaA p.K470K NM_014840 NP_055655 O60285 NUAK1_HUMAN Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA. 470 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 TCTGCTGGGTCTTTTTCAAGA 0.572000 21 27 0 0 0.091800 0 0 DOCK4 9732 broad.mit.edu 37 7 111517203 111517203 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:111517203G>A uc003vfy.3 - 16 1896 c.1627C>T c.(1627-1629)Ctc>Ttc p.L543F DOCK4_uc003vfw.3_5'UTR|DOCK4_uc003vfx.3_Missense_Mutation_p.L543F|DOCK4_uc003vga.1_Missense_Mutation_p.L148F NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA. 543 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GGAAGTTTGAGGTAGCGGGTA 0.363000 5 14 0 0 0.132662 0 0 TACC3 10460 broad.mit.edu 37 4 1742647 1742647 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:1742647G>A uc003gdo.3 + 12 2312 c.2157G>A c.(2155-2157)gaG>gaA p.E719E TACC3_uc003gdp.3_Silent_p.E359E NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA. 719 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) ACTCCATGGAGAAGTCCTTCT 0.478000 40 32 0 0 0.144211 0 0 IGHG1 3500 broad.mit.edu 37 14 106204156 106204156 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:106204156C>T uc001yse.3 - 6 1187 c.741G>A c.(739-741)gtG>gtA p.V247V abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron RecName: Full=Ig gamma-1 chain C region; GCTTCAGGTCCACCACCGAGG 0.667000 60 19 0 0 0.083992 0 0 TELO2 9894 broad.mit.edu 37 16 1545502 1545503 + Missense_Mutation DNP CC TT TT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:1545502_1545503CC>TT uc002cly.3 + 2 782_783 c.491_492CC>TT c.(490-492)ccc>cTT p.P164L TELO2_uc010uvg.1_Missense_Mutation_p.P164L NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA. 164 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) GTGGCCCTGCCCGATCACCTGG 0.683000 13 19 0 0 0.115264 0 0 S1PR1 1901 broad.mit.edu 37 1 101705320 101705320 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:101705320C>T uc021oqt.1 + 0 780 c.780C>T c.(778-780)atC>atT p.I260I S1PR1_uc001dud.2_Silent_p.I260I|S1PR1_uc009weg.2_Silent_p.I260I NM_001400 NP_001391 P21453 S1PR1_HUMAN Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA. 260 cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity p.I260I(2) NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 43 CCGTAATTATCGTCCTGAGCG 0.597000 62 63 0 0 0.139131 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558310 113558310 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:113558310G>A uc010ljy.1 - 0 773 c.742C>T c.(742-744)Cct>Tct p.P248S NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 248 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TGTCTGTTAGGAACTTCTTTC 0.303000 189 35 0 0 0.086207 0 0 BIN2 51411 broad.mit.edu 37 12 51707644 51707644 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:51707644C>T uc001ryg.3 - 1 177 c.125G>A c.(124-126)cGa>cAa p.R42Q BIN2_uc009zlz.3_Missense_Mutation_p.R42Q|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Missense_Mutation_p.R16Q NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN Homo sapiens bridging integrator 2 (BIN2), mRNA. 42 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 TTGTTCAAATCGTTCATCTTT 0.463000 62 31 0 0 0.064281 0 0 OR5L2 26338 broad.mit.edu 37 11 55594880 55594880 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:55594880C>T uc001nhy.1 + 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) TGTACTTTTTCCTCAGCCACT 0.463000 HNSCC(27;0.073) 101 69 0 0 0.139131 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858028 9858028 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:9858028C>T uc010uym.2 - 13 3683 c.3373G>A c.(3373-3375)Gag>Aag p.E1125K GRIN2A_uc002czo.4_Missense_Mutation_p.E1125K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E968K|GRIN2A_uc002czr.4_Missense_Mutation_p.E1125K NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1125 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E1125*(4) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAACCAGGCTCCTTCTCACCA 0.507000 75 73 0 0 0.139131 0 0 KCNH8 131096 broad.mit.edu 37 3 19491795 19491795 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:19491795G>A uc003cbk.1 + 8 1768 c.1573G>A c.(1573-1575)Gag>Aag p.E525K KCNH8_uc011awe.1_Missense_Mutation_p.E525K|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Intron NM_144633 NP_653234 Q96L42 KCNH8_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA. 525 E -> Q (in Ref. 3; BAD92290). integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 AGATTCAAATGAGGTAATGTT 0.393000 29 20 0 0 0.055883 0 0 HRC 3270 broad.mit.edu 37 19 49657828 49657828 + Missense_Mutation SNP C T T rs139799783 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:49657828C>T uc002pmv.3 - 0 854 c.667G>A c.(667-669)Gag>Aag p.E223K NM_002152 NP_002143 P23327 SRCH_HUMAN Homo sapiens histidine rich calcium binding protein (HRC), mRNA. 223 4 X tandem repeats, acidic.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) TCCTCATCCTCTTCACTCCCA 0.547000 20 12 0 0 0.080935 0 0 DNAH17 8632 broad.mit.edu 37 17 76450757 76450757 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr17:76450757G>A uc010dhp.2 - 63 10326 c.10201C>T c.(10201-10203)Ccc>Tcc p.P3401S DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGGCTCAAGGGATCCAGGCCA 0.577000 32 20 0 0 0.049695 0 0 CORIN 10699 broad.mit.edu 37 4 47746434 47746434 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:47746434C>T uc003gxm.3 - 4 877 c.784G>A c.(784-786)Gaa>Aaa p.E262K CORIN_uc011bzf.2_Missense_Mutation_p.E123K|CORIN_uc011bzg.2_Missense_Mutation_p.E195K|CORIN_uc011bzh.1_Missense_Mutation_p.E262K|CORIN_uc011bzi.1_Missense_Mutation_p.E262K|CORIN_uc003gxn.4_Missense_Mutation_p.E262K NM_006587 NP_006578 Q9Y5Q5 CORIN_HUMAN Homo sapiens corin, serine peptidase (CORIN), mRNA. 262 peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide integral to membrane|plasma membrane scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 79 TTTCCGTTTTCCTGCTGAGGT 0.378000 68 48 0 0 0.139131 0 0 CACNA1C 775 broad.mit.edu 37 12 2666141 2666141 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:2666141C>T uc009zdu.1 + 10 1819 c.1506C>T c.(1504-1506)ttC>ttT p.F502F CACNA1C_uc001qkc.2_Silent_p.F502F|CACNA1C_uc001qjz.2_Silent_p.F502F|CACNA1C_uc001qkd.2_Silent_p.F502F|CACNA1C_uc001qke.2_Silent_p.F502F|CACNA1C_uc001qkf.2_Silent_p.F502F|CACNA1C_uc009zdw.1_Silent_p.F502F|CACNA1C_uc001qkg.2_Silent_p.F502F|CACNA1C_uc001qkh.2_Silent_p.F502F|CACNA1C_uc001qkl.2_Silent_p.F502F|CACNA1C_uc001qkj.2_Silent_p.F502F|CACNA1C_uc001qkk.2_Silent_p.F502F|CACNA1C_uc001qkn.2_Silent_p.F502F|CACNA1C_uc001qkm.2_Silent_p.F502F|CACNA1C_uc001qko.2_Silent_p.F502F|CACNA1C_uc001qkp.2_Silent_p.F502F|CACNA1C_uc001qkq.2_Silent_p.F502F|CACNA1C_uc001qku.2_Silent_p.F502F|CACNA1C_uc001qkr.2_Silent_p.F502F|CACNA1C_uc001qks.2_Silent_p.F502F|CACNA1C_uc001qkt.2_Silent_p.F502F|CACNA1C_uc009zdv.1_Silent_p.F499F|CACNA1C_uc001qkb.2_Silent_p.F502F|CACNA1C_uc001qka.1_Silent_p.F37F|CACNA1C_uc001qki.1_Silent_p.F238F|CACNA1C_uc009zdy.1_Silent_p.F167F|CACNA1C_uc001qkv.1_Silent_p.F72F NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 502 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGTCAAAGTTCAGGTGAGTGA 0.498000 28 18 0 0 0.043863 0 0 RNF123 63891 broad.mit.edu 37 3 49753392 49753393 + Missense_Mutation DNP CC TT TT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:49753392_49753393CC>TT uc003cxh.3 + 32 3374_3375 c.3288_3289CC>TT c.(3286-3291)ttcctt>ttTTtt p.L1097F RNF123_uc003cxi.3_Non-coding_Transcript NM_022064 NP_071347 Q5XPI4 RN123_HUMAN Homo sapiens ring finger protein 123 (RNF123), mRNA. 1097 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CTGAGATATTCCTTGACTGGAC 0.589000 41 30 0 0 0.115264 0 0 LRIG3 121227 broad.mit.edu 37 12 59272672 59272672 + Missense_Mutation SNP C A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:59272672C>A uc001sqr.3 - 13 2263 c.2017G>T c.(2017-2019)Gta>Tta p.V673L LRIG3_uc009zqh.3_Missense_Mutation_p.V613L|LRIG3_uc010ssh.2_Non-coding_Transcript NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA. 673 Ig-like C2-type 2. integral to membrane LRIG3/ROS1(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 GBM - Glioblastoma multiforme(1;1.17e-18) CAGCTGTATACCCCAATGTCC 0.478000 T ROS1 NSCLC 70 26 5.61819e-17 6.32835e-17 0.108266 1 0 PRMT7 54496 broad.mit.edu 37 16 68389640 68389640 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr16:68389640C>T uc002evy.2 + 16 2009 c.1665C>T c.(1663-1665)ttC>ttT p.F555F PRMT7_uc010vlg.2_Silent_p.F505F|PRMT7_uc002evz.2_Silent_p.F327F|PRMT7_uc010cfd.1_Silent_p.F47F NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN Homo sapiens protein arginine methyltransferase 7 (PRMT7), transcript variant 1, mRNA. 555 DNA methylation involved in gamete generation|cell differentiation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CCCTGGACTTCAGGGAGAGCA 0.667000 11 3 0 0 0.009096 0 0 GGT5 2687 broad.mit.edu 37 22 24622608 24622608 + Silent SNP C T T rs58692741 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:24622608C>T uc002zzp.4 - 6 1446 c.1029G>A c.(1027-1029)ccG>ccA p.P343P GGT5_uc002zzo.4_Silent_p.P343P|GGT5_uc002zzr.4_Silent_p.P311P|GGT5_uc002zzq.4_Silent_p.P311P|GGT5_uc011ajm.2_Silent_p.P266P|GGT5_uc011ajn.1_Non-coding_Transcript NM_001099781 NP_001093251 P36269 GGT5_HUMAN Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA. 343 glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity p.P343P(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3) 28 CCTGGAGCTTCGGGTGGCTTC 0.627000 21 26 0 0 0.083992 0 0 FPR2 2358 broad.mit.edu 37 19 52272052 52272052 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:52272052G>A uc002pxr.3 + 1 186 c.141G>A c.(139-141)gtG>gtA p.V47V FPR2_uc002pxs.4_Silent_p.V47V|FPR2_uc010epf.3_Silent_p.V47V|FPR2_uc021uyp.1_Silent_p.V47V NM_001005738 NP_001453 P25090 FPR2_HUMAN Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA. 47 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 ATGGGCTTGTGATCTGGGTGG 0.557000 49 29 0 0 0.050027 0 0 ODZ4 26011 broad.mit.edu 37 11 78440627 78440627 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:78440627C>T uc001ozl.4 - 21 3663 c.3200G>A c.(3199-3201)cGg>cAg p.R1067Q NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1067 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 GCCAGGGGTCCGGCTGCTCAG 0.582000 44 31 0 0 0.144211 0 0 NOTCH2 4853 broad.mit.edu 37 1 120468252 120468253 + Missense_Mutation DNP GG AA AA TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:120468252_120468253GG>AA uc001eik.3 - 24 4483_4484 c.4186_4187CC>TT c.(4186-4188)cct>TTt p.P1396F NM_024408 NP_077719 Q04721 NOTC2_HUMAN Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA. 1396 EGF-like 35. Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GGAGTAATAAGGAGGCTGGCGC 0.663000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 202 130 0 0 0.115264 0 0 VSTM4 196740 broad.mit.edu 37 10 50315758 50315758 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:50315758G>A uc001jhf.2 - 1 367 c.338C>T c.(337-339)tCc>tTc p.S113F VSTM4_uc001jhh.2_Missense_Mutation_p.S113F NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA. 113 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 TGTCAAGACGGAGAGCCTGTA 0.622000 50 37 0 0 0.124865 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423199 107423199 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:107423199C>T uc002tdq.3 - 5 1644 c.1525G>A c.(1525-1527)Gtg>Atg p.V509M ST6GAL2_uc002tdr.3_Missense_Mutation_p.V509M NM_001142351 NP_115917 Q96JF0 SIAT2_HUMAN Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA. 509 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 GGAAGAACCACCTTGCCCTTG 0.562000 61 78 0 0 0.139131 0 0 NPHP4 261734 broad.mit.edu 37 1 5947473 5947473 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:5947473G>A uc001alq.2 - 17 2626 c.2358C>T c.(2356-2358)gtC>gtT p.V786V NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript NM_015102 NP_055917 O75161 NPHP4_HUMAN Homo sapiens nephronophthisis 4 (NPHP4), mRNA. 786 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) CAGTTGCCACGACCTCAAGCT 0.642000 31 23 0 0 0.091800 0 0 ABCA7 10347 broad.mit.edu 37 19 1041569 1041569 + Missense_Mutation SNP C T T rs149348071 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr19:1041569C>T uc002lqw.4 + 2 358 c.127C>T c.(127-129)Cgc>Tgc p.R43C ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Missense_Mutation_p.R43C NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA. 43 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGTGGCTGTTCGCCACTCCCA 0.627000 34 28 0 0 0.144211 0 0 ACSS3 79611 broad.mit.edu 37 12 81536910 81536910 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:81536910C>T uc001szl.1 + 4 896 c.805C>T c.(805-807)Cgt>Tgt p.R269C ACSS3_uc001szm.1_Missense_Mutation_p.R268C NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA. 269 mitochondrion ATP binding|acetate-CoA ligase activity p.G268D(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 GGCTCCCGGTCGTGACCTTGA 0.408000 25 11 0 0 0.080935 0 0 KLHL1 57626 broad.mit.edu 37 13 70281924 70281924 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr13:70281924C>T uc001vip.3 - 9 2814 c.2020G>A c.(2020-2022)Gat>Aat p.D674N KLHL1_uc010thm.2_Missense_Mutation_p.D613N NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA. 674 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) GTTTTGGGATCATATCTAAAA 0.368000 17 34 0 0 0.064281 0 0 PGK2 5232 broad.mit.edu 37 6 49753856 49753856 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:49753856C>T uc003ozu.3 - 0 1198 c.1045G>A c.(1045-1047)Gct>Act p.A349T NM_138733 NP_620061 P07205 PGK2_HUMAN Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA. 349 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) GTTCCCTTAGCAAAGGCATCC 0.483000 171 26 0 0 0.091800 0 0 AK022914 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A G G TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr14:19857036A>G uc001vvq.1 - 4 c.494T>C Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445. CTGGATAATAAAGTTCATCTC 0.373000 94 4 0 0 0.009096 0 0 KDR 3791 broad.mit.edu 37 4 55961074 55961074 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr4:55961074G>A uc003has.3 - 20 3168 c.2866C>T c.(2866-2868)Cct>Tct p.P956S KDR_uc003hat.1_Missense_Mutation_p.P956S NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 956 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 p.I955F(1) 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) AGATCCACAGGGATTGCTCCA 0.468000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 51 25 0 0 0.076483 0 0 CROCCP2 84809 broad.mit.edu 37 1 16952963 16952963 + RNA SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:16952963G>A uc010ocf.2 - 0 c.32C>T CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript|CROCCP2_uc001azg.1_Non-coding_Transcript Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA. CTTGGTCACGGAGAGCTCGAG 0.617000 39 8 0 0 0.038147 0 0 SMC1B 27127 broad.mit.edu 37 22 45798262 45798263 + Missense_Mutation DNP CC TT TT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:45798262_45798263CC>TT uc003bgc.3 - 4 856_857 c.804_805GG>AA c.(802-807)aaggaa>aaAAaa p.E269K SMC1B_uc003bgd.3_Missense_Mutation_p.E269K|SMC1B_uc003bge.1_Missense_Mutation_p.E52K NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 269 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) ATTCCATGTTCCTTTTTCCTGG 0.337000 47 20 0 0 0.115264 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110448656 110448656 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:110448656G>A uc003yne.3 + 29 3699 c.3595G>A c.(3595-3597)Gat>Aat p.D1199N NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1199 IPT/TIG 5. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GATTGAAGGGGATTTGAATAG 0.358000 HNSCC(38;0.096) 23 21 0 0 0.055883 0 0 NEDD4L 23327 broad.mit.edu 37 18 56008975 56008976 + Missense_Mutation DNP CC TT TT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr18:56008975_56008976CC>TT uc002lgy.3 + 14 1606_1607 c.1323_1324CC>TT c.(1321-1326)atccgc>atTTgc p.R442C NEDD4L_uc002lgz.3_Missense_Mutation_p.R378C|NEDD4L_uc002lgx.3_Missense_Mutation_p.R422C|NEDD4L_uc010xee.1_Missense_Mutation_p.R321C|NEDD4L_uc002lhc.2_Missense_Mutation_p.R434C|NEDD4L_uc002lhd.2_Missense_Mutation_p.R321C|NEDD4L_uc002lhb.2_Missense_Mutation_p.R301C|NEDD4L_uc002lhe.2_Missense_Mutation_p.R414C|NEDD4L_uc002lhf.3_Missense_Mutation_p.R301C|NEDD4L_uc002lhg.3_Missense_Mutation_p.R321C|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA. 442 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AGCCTCAGATCCGCCGGCCTCG 0.520000 5 6 0 0 0.115264 0 0 CTNNA3 29119 broad.mit.edu 37 10 68940135 68940135 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr10:68940135G>A uc009xpn.1 - 6 1110 c.987C>T c.(985-987)atC>atT p.I329I CTNNA3_uc001jmw.2_Silent_p.I329I|CTNNA3_uc001jmx.4_Silent_p.I329I|CTNNA3_uc009xpo.1_Silent_p.I189I|CTNNA3_uc001jna.2_Silent_p.I341I NM_001127384 NP_037398 Q9UI47 CTNA3_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA. 329 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 TGCATTCTGCGATAATCCGCT 0.522000 30 34 0 0 0.050027 0 0 SLC38A4 55089 broad.mit.edu 37 12 47182355 47182355 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr12:47182355C>T uc001rpi.2 - 3 565 c.166G>A c.(166-168)Gga>Aga p.G56R SLC38A4_uc001rpj.2_Missense_Mutation_p.G56R|SLC38A4_uc009zkl.2_Missense_Mutation_p.G56R NM_018018 NP_060488 Q969I6 S38A4_HUMAN Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA. 56 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) CCCAAAAATCCATTTGTCAGG 0.383000 48 20 0 0 0.062417 0 0 RIN1 9610 broad.mit.edu 37 11 66102509 66102509 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr11:66102509G>A uc001ohn.1 - 5 888 c.761C>T c.(760-762)tCc>tTc p.S254F RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.S149F|RIN1_uc010rpa.1_Missense_Mutation_p.S149F NM_004292 NP_004283 Q13671 RIN1_HUMAN Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA. 254 endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 CAGGGGGCTGGAGGTCTCTGT 0.657000 23 14 0 0 0.132662 0 0 MFSD9 84804 broad.mit.edu 37 2 103353173 103353174 + Missense_Mutation DNP CC TT TT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:103353173_103353174CC>TT uc002tcb.2 - 0 164_165 c.96_97GG>AA c.(94-99)gcggag>gcAAag p.E33K TMEM182_uc002tcc.4_5'Flank|TMEM182_uc002tcd.4_5'Flank|MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_5'UTR NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA. 33 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 TCGGCAGCCTCCGCCTCGGTTC 0.658000 19 35 0 0 0.115264 0 0 JAZF1 221895 broad.mit.edu 37 7 28220173 28220173 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:28220173G>A uc003szn.3 - 0 265 c.24C>T c.(22-24)tcC>tcT p.S8S JAZF1-AS1_uc011jzq.2_Intron NM_175061 NP_778231 Q86VZ6 JAZF1_HUMAN Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA. 8 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcriptional repressor complex nucleic acid binding|transcription corepressor activity|zinc ion binding JAZF1/SUZ12(133) endometrium(1)|large_intestine(1)|lung(4) 6 TGGAGAAGAAGGAGGCGGCGG 0.672000 T SUZ12 endometrial stromal tumours 155 302 0 0 0.139131 0 0 LMNA 4000 broad.mit.edu 37 1 156105804 156105804 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:156105804C>T uc001fni.2 + 5 1298 c.1049C>T c.(1048-1050)gCa>gTa p.A350V LMNA_uc001fnf.1_Missense_Mutation_p.A350V|LMNA_uc001fng.2_Missense_Mutation_p.A350V|LMNA_uc001fnh.2_Missense_Mutation_p.A350V|LMNA_uc009wro.1_Missense_Mutation_p.A350V|LMNA_uc010pgz.1_Missense_Mutation_p.A238V|LMNA_uc001fnj.2_Missense_Mutation_p.A269V|LMNA_uc001fnk.2_Missense_Mutation_p.A251V|LMNA_uc009wrp.3_Nonsense_Mutation_p.Q78*|LMNA_uc010pha.1_Missense_Mutation_p.A6V NM_170707 NP_733821 P02545 LMNA_HUMAN Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA. 350 Coil 2.|Rod. cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm protein binding|structural molecule activity NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4) 10 Hepatocellular(266;0.158) GAGATGCGGGCAAGGATGCAG 0.647000 Werner syndrome;Hutchinson-Gilford Progeria Syndrome 145 94 0 0 0.139131 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 134913 134913 + Missense_Mutation SNP T C C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrGL000209.1:134913T>C uc002quo.2 + 2 237 c.218T>C c.(217-219)aTt>aCt p.I73T KIR2DL2_uc021vdc.1_Missense_Mutation_p.I73T|KIR2DL2_uc021vdd.1_Missense_Mutation_p.I73T|KIR2DL2_uc010evk.1_Intron|KIR2DL2_uc010evl.1_Intron|KIR2DL2_uc002qun.2_Missense_Mutation_p.I73T NM_012312 NP_036444 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2 (KIR2DS2), mRNA. 73 Ig-like C2-type 1. regulation of immune response integral to membrane|plasma membrane receptor activity TTGCACCTCATTGGAGAGCAC 0.498000 96 3 0 0 0.115264 0 0 SLC26A5 375611 broad.mit.edu 37 7 103018182 103018183 + Missense_Mutation DNP GG AA AA rs144150940 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:103018182_103018183GG>AA uc003vbz.3 - 17 2111_2112 c.1849_1850CC>TT c.(1849-1851)ccc>TTc p.P617F SLC26A5_uc003vbt.2_Missense_Mutation_p.P617F|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.P585F NM_198999 NP_945350 P58743 S26A5_HUMAN Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA. 617 STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 CACTATTGGGGGATATTTTACT 0.401000 98 19 0 0 0.115264 0 0 ADAM10 102 broad.mit.edu 37 15 59009911 59009911 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr15:59009911G>A uc002afd.1 - 1 515 c.71C>T c.(70-72)cCt>cTt p.P24L ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron NM_001110 NP_001101 O14672 ADA10_HUMAN Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA. 24 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) TTTATTTAAAGGATTCCCATA 0.328000 13 5 0 0 0.021553 0 0 SEC14L4 284904 broad.mit.edu 37 22 30887843 30887843 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr22:30887843G>A uc003aid.2 - 9 989 c.889C>T c.(889-891)Ctg>Ttg p.L297L SEC14L4_uc011akz.1_Silent_p.L297L|SEC14L4_uc003aie.2_Silent_p.L282L|SEC14L4_uc003aif.2_Silent_p.L243L NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA. 297 GOLD. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) CCCGGGAACAGGATCTCGTTC 0.657000 13 10 0 0 0.069234 0 0 MFSD9 84804 broad.mit.edu 37 2 103335015 103335015 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:103335015G>A uc002tcb.2 - 5 1357 c.1289C>T c.(1288-1290)tCg>tTg p.S430L MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.S369L NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA. 430 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 GGCAACCCCCGAGAGGAGAGG 0.637000 32 20 0 0 0.049695 0 0 FREM1 158326 broad.mit.edu 37 9 14759870 14759870 + Missense_Mutation SNP C A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr9:14759870C>A uc003zlm.3 - 28 6050 c.5234G>T c.(5233-5235)tGg>tTg p.W1745L FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.W281L NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 1745 Calx-beta. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GGTCTGTGACCATTCAATATG 0.428000 149 35 2.40579e-17 2.71753e-17 0.086207 1 0 PCDHB4 56131 broad.mit.edu 37 5 140501839 140501839 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr5:140501839G>A uc003lip.1 + 0 259 c.259G>A c.(259-261)Gag>Aag p.E87K NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN Homo sapiens protocadherin beta 4 (PCDHB4), mRNA. 87 Cadherin 1. 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) GCTTCTGAGGGAGAAACTAGA 0.522000 36 26 0 0 0.091800 0 0 CRIP3 401262 broad.mit.edu 37 6 43276122 43276122 + Silent SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr6:43276122C>T uc010jyn.2 - 1 69 c.69G>A c.(67-69)aaG>aaA p.K23K CRIP3_uc003ouu.1_Silent_p.K23K NM_206922 NP_996805 Q6Q6R5 CRIP3_HUMAN Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA. 23 LIM zinc-binding 1. cytoplasm zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) GGTGCCAGTTCTTGCCCAGGG 0.622000 43 20 0 0 0.049695 0 0 SEMA3G 56920 broad.mit.edu 37 3 52475703 52475703 + Missense_Mutation SNP C T T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr3:52475703C>T uc003dea.1 - 5 554 c.554G>A c.(553-555)gGg>gAg p.G185E NM_020163 NP_064548 Q9NS98 SEM3G_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA. 185 Sema. multicellular organismal development extracellular region|membrane receptor activity kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1) 18 BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333) GTACAGCTCCCCGTCTGGGGT 0.662000 36 21 0 0 0.055883 0 0 FLJ43860 389690 broad.mit.edu 37 8 142498693 142498693 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr8:142498693G>A uc003ywi.2 - 5 789 c.708C>T c.(706-708)ttC>ttT p.F236F FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN Homo sapiens FLJ43860 protein (FLJ43860), mRNA. 236 binding all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CTTCCTGGCTGAAGAGCTCCT 0.632000 25 20 0 0 0.091800 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883081 228883081 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:228883081G>A uc002vpq.2 - 6 2536 c.2489C>T c.(2488-2490)tCc>tTc p.S830F SPHKAP_uc002vpp.2_Missense_Mutation_p.S830F|SPHKAP_uc010zlx.1_Missense_Mutation_p.S830F NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 830 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) TATTTCCTTGGAGGATGTTGT 0.488000 89 41 0 0 0.086207 0 0 CACNA1S 779 broad.mit.edu 37 1 201046174 201046174 + Silent SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:201046174G>A uc001gvv.3 - 11 1928 c.1701C>T c.(1699-1701)ttC>ttT p.F567F NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 567 Poly-Leu. 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) CGATGAAGAGGAAGAGCAGCA 0.557000 37 29 0 0 0.144211 0 0 LANCL2 55915 broad.mit.edu 37 7 55433764 55433764 + Missense_Mutation SNP G A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr7:55433764G>A uc003tqp.3 + 0 624 c.46G>A c.(46-48)Gag>Aag p.E16K NM_018697 NP_061167 Q9NS86 LANC2_HUMAN Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA. 16 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|GTP binding|catalytic activity|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 25 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) CCTGGGAGGGGAGGCAGAAAT 0.701000 10 7 0 0 0.029380 0 0 GLRA2 2742 broad.mit.edu 37 X 14625263 14625263 + Silent SNP G A A rs113271440 TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:14625263G>A uc010neq.3 + 5 1348 c.588G>A c.(586-588)acG>acA p.T196T GLRA2_uc004cwe.4_Silent_p.T196T|GLRA2_uc011mio.2_Silent_p.T107T|GLRA2_uc010nep.3_Silent_p.T196T|GLRA2_uc011mip.2_Silent_p.T174T NM_002063 NP_002054 P23416 GLRA2_HUMAN Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA. 196 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity p.T196T(3)|p.T196M(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TTGGGTACACGATGAATGACC 0.388000 8 29 0 0 0.045705 0 0 FAF1 11124 broad.mit.edu 37 1 50957438 50957439 + Frame_Shift_Del DEL CT - - TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:50957438_50957439delCT uc001cse.1 - 15 1982_1983 c.1529_1530delAG c.(1528-1530)gagfs p.E510fs FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc010onc.1_Frame_Shift_Del_p.E268fs NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA. 510 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity p.R509G(1) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) CCTCATCTTGCTCTCTCTTCAC 0.332 --- 67 --- --- 18 --- ZCCHC11 23318 broad.mit.edu 37 1 52962697 52962697 + Frame_Shift_Del DEL A - - TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:52962697delA uc001cty.2 - 4 1411 c.1158delT c.(1156-1158)gttfs p.V386fs ZCCHC11_uc001ctx.2_Frame_Shift_Del_p.V386fs|ZCCHC11_uc009vze.1_Frame_Shift_Del_p.V386fs|ZCCHC11_uc009vzf.1_Frame_Shift_Del_p.V145fs|ZCCHC11_uc001cub.3_Frame_Shift_Del_p.V386fs|ZCCHC11_uc001cuc.2_Intron NM_001009881 NP_001009881 Q5TAX3 TUT4_HUMAN Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA. 386 RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance cytoplasm|nucleolus RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 ATGTCGTTATAACCTTTGACA 0.348 --- 38 --- --- 18 --- LPPR4 9890 broad.mit.edu 37 1 99771243 99771244 + Frame_Shift_Ins INS - TT TT TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:99771243_99771244insTT uc001dse.3 + 6 1127_1128 c.969_970insTT c.(967-972)ggcttgfs p.G323fs LPPR4_uc010oue.2_Frame_Shift_Ins_p.G265fs NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA. 323 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) AACACTAGGGCTTGTATGCTGT 0.450 --- 85 --- --- 54 --- SMG7 9887 broad.mit.edu 37 1 183515266 183515267 + Frame_Shift_Ins INS - A A TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr1:183515266_183515267insA uc001gqg.3 + 16 2786_2787 c.2536_2537insA c.(2536-2538)gaafs p.E846fs SMG7_uc010pob.2_Frame_Shift_Ins_p.E829fs|SMG7_uc021pga.1_Frame_Shift_Ins_p.E758fs|SMG7_uc001gqf.3_Frame_Shift_Ins_p.E800fs|SMG7_uc001gqh.3_Frame_Shift_Ins_p.E800fs|SMG7_uc010poc.2_Frame_Shift_Ins_p.E804fs NM_173156 NP_775179 Q92540 SMG7_HUMAN Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA. 846 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.?(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 GCAGCCTCTAGAAAAAAAAATG 0.450 --- 62 --- --- 7 --- SLC20A1 6574 broad.mit.edu 37 2 113416627 113416628 + Frame_Shift_Ins INS - C C TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chr2:113416627_113416628insC uc002tib.3 + 6 1543_1544 c.1004_1005insC c.(1003-1005)agcfs p.S335fs SLC20A1_uc002tic.1_Frame_Shift_Ins_p.S147fs NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA. 335 phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3) 28 AGGCTTCCCAGCGTGGACTTGA 0.520 --- 81 --- --- 22 --- HUWE1 10075 broad.mit.edu 37 X 53574783 53574785 + In_Frame_Del DEL GTG - - TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7070091e-69f2-4eaf-b4d2-069b8d355128 35908ea4-8c82-4f9a-81c6-2dc5e4cc78c2 g.chrX:53574783_53574785delGTG uc004dsp.3 - 67 10887_10889 c.10485_10487delCAC c.(10483-10488)accact>act p.3495_3496TT>T HUWE1_uc004dsn.3_In_Frame_Del_p.2303_2304TT>T NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA. 3495 Thr-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ggaggcggcagtggtggtggtgg 0.591 --- 4 --- --- 2 ---