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 C11orf70 85016 broad.mit.edu 37 11 101953919 101953919 + Missense_Mutation SNP G C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:101953919G>C uc001pgp.3 + 6 826 c.793G>C c.(793-795)Gac>Cac p.D265H C11orf70_uc001pgq.3_Missense_Mutation_p.D227H NM_032930 NP_116319 Q9BRQ4 CK070_HUMAN Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA. 265 breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2) 12 all_epithelial(12;0.0137) Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137) Lung(13;0.245) BRCA - Breast invasive adenocarcinoma(274;0.0335) TGGTGTGGGAGACATGTCTTA 0.313000 70 26 0 0 1 0 0 ZNF880 400713 broad.mit.edu 37 19 52876394 52876394 + Nonsense_Mutation SNP G T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:52876394G>T uc002pzc.3 + 1 92 c.43G>T c.(43-45)Gaa>Taa p.E15* ZNF880_uc002pzb.4_Non-coding_Transcript|ZNF880_uc021uyu.1_Nonsense_Mutation_p.E15* NM_001145434 NP_001138906 Q6PDB4 ZN880_HUMAN Homo sapiens zinc finger protein 880 (ZNF880), mRNA. 15 KRAB. regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 CGTGGCCATAGAATTCCCTCA 0.463000 130 24 9.80776e-20 1.04434e-19 1 1 0 CIC 23152 broad.mit.edu 37 19 42797210 42797211 + Missense_Mutation DNP CC TT TT TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:42797210_42797211CC>TT uc002otf.1 + 14 3612_3613 c.3572_3573CC>TT c.(3571-3573)tcc>tTT p.S1191F NM_015125 NP_055940 Q96RK0 CIC_HUMAN Homo sapiens capicua homolog (Drosophila) (CIC), mRNA. 1191 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) CCCGTGGGGTCCTTTGAGGCAG 0.678000 """Mis, F, S""" oligodendroglioma 23 24 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35748500 35748500 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:35748500G>A uc011axy.2 + 8 933 c.721G>A c.(721-723)Gaa>Aaa p.E241K ARPP21_uc003cga.3_Missense_Mutation_p.E241K|ARPP21_uc003cgb.3_Missense_Mutation_p.E241K|ARPP21_uc003cgf.3_Missense_Mutation_p.E77K NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA. 241 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 TTTAAAAGATGAAAAAGGTGA 0.348000 63 56 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228528463 228528463 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:228528463C>T uc009xez.1 + 71 17615 c.17571C>T c.(17569-17571)tgC>tgT p.C5857C OBSCN_uc001hsn.3_Silent_p.C5857C|OBSCN_uc001hsr.1_Silent_p.C486C NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 5857 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GACAGAACTGCGCGCTGCTGG 0.637000 22 6 0 0 1 0 0 TAF5 6877 broad.mit.edu 37 10 105147410 105147410 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:105147410G>A uc001kwv.3 + 9 2163 c.2140G>A c.(2140-2142)Gtc>Atc p.V714I TAF5_uc010qqq.2_Missense_Mutation_p.V659I NM_006951 NP_008882 Q15542 TAF5_HUMAN Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA. 714 histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2) 15 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) CACTGATACAGTCTGTTCACT 0.403000 71 91 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70934991 70934991 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:70934991G>A uc002ezr.3 - 52 9112 c.8961C>T c.(8959-8961)acC>acT p.T2987T NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 2988 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) CAGGGGGGATGGTCCCCTGCA 0.562000 190 29 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144522426 144522426 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:144522426G>A uc003yyd.2 - 10 2629 c.2600C>T c.(2599-2601)cCc>cTc p.P867L NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA. 867 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CGAGGATGAGGGAGAGGCTGA 0.677000 12 6 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140374045 140374045 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:140374045C>T uc003vvy.1 + 0 1093 c.915C>T c.(913-915)ctC>ctT p.L305L ADCK2_uc003vvz.3_Silent_p.L305L NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA. 305 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) CCACCAACCTCATCTCCGTGG 0.557000 102 24 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166896038 166896038 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:166896038G>A uc002udo.4 - 15 2711 c.2484C>T c.(2482-2484)ttC>ttT p.F828F SCN1A_uc010fpk.3_Silent_p.F800F|SCN1A_uc021vsb.1_Silent_p.F817F NM_001202435 NP_001189364 P35498 SCN1A_HUMAN Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA. 828 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGCCTTCTTGGAAATAATAGT 0.373000 24 18 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18738549 18738549 + Splice_Site SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:18738549T>C uc009yht.2 - 10 1164 c.974_splice c.e10-1 p.D325_splice IGSF22_uc001mpa.2_Splice_Site NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA. 325 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 GTGGCTCATCTGCAGCAAACA 0.562000 44 20 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153225451 153225451 + Missense_Mutation SNP G T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:153225451G>T uc004fjp.3 - 7 1774 c.1246C>A c.(1246-1248)Ccg>Acg p.P416T NM_005334 NP_005325 P51610 HCFC1_HUMAN Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA. 416 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GATGGGACCGGATTGGGTGTA 0.637000 34 72 5.72124e-26 6.1204e-26 1 1 0 PDZD2 23037 broad.mit.edu 37 5 32090360 32090361 + Missense_Mutation DNP CC TT TT TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:32090360_32090361CC>TT uc003jhl.3 + 19 7194_7195 c.6806_6807CC>TT c.(6805-6807)ccc>cTT p.P2269L PDZD2_uc003jhm.3_Missense_Mutation_p.P2269L NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 2269 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GGTGGTCTTCCCAGCCTGGCTA 0.574000 138 82 0 0 1 0 0 OR4K14 122740 broad.mit.edu 37 14 20482523 20482523 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:20482523G>A uc010tky.2 - 0 830 c.830C>T c.(829-831)aCc>aTc p.T277I NM_001004712 NP_001004712 Q8NGD5 OR4KE_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA. 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6) 37 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2e-06) GBM - Glioblastoma multiforme(265;0.00124) AGTAAAAATGGTATAAAACAC 0.428000 94 24 0 0 1 0 0 OR8H2 390151 broad.mit.edu 37 11 55872999 55872999 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:55872999G>A uc010riy.2 + 0 481 c.481G>A c.(481-483)Gtt>Att p.V161I NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA. 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) TGTCAACGTGGTTTCCATGAG 0.428000 HNSCC(53;0.14) 139 43 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15806988 15806988 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:15806988G>A uc002nbl.3 + 10 1386 c.1267G>A c.(1267-1269)Gat>Aat p.D423N NM_023944 NP_076433 Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA. NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CTGCCTCATCGATATTATAGG 0.572000 137 33 0 0 1 0 0 GNAI2 2771 broad.mit.edu 37 3 50290580 50290580 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:50290580G>A uc003cyq.1 + 3 549 c.428G>A c.(427-429)cGc>cAc p.R143H GNAI2_uc003cyo.1_Missense_Mutation_p.R127H|GNAI2_uc003cyp.1_Missense_Mutation_p.R127H|GNAI2_uc010hlg.1_Missense_Mutation_p.R62H|GNAI2_uc011bdn.2_Missense_Mutation_p.R106H|GNAI2_uc003cyr.1_Missense_Mutation_p.R62H NM_002070 NP_002061 P04899 GNAI2_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA. 143 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.R143H(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) TGCTTTGGCCGCTCAAGGGAA 0.657000 342 5 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126238692 126238692 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:126238692G>A uc003ifj.4 + 0 1126 c.1126G>A c.(1126-1128)Gtg>Atg p.V376M NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 376 Cadherin 4. 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 AGTGGGCACCGTGGTGGCTCT 0.597000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 13 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15073097 15073097 + Missense_Mutation SNP A G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:15073097A>G uc002naa.1 - 4 659 c.652T>C c.(652-654)Tct>Cct p.S218P SLC1A6_uc010dzu.1_Missense_Mutation_p.S218P|SLC1A6_uc010xod.1_Missense_Mutation_p.S154P|SLC1A6_uc002nab.3_Missense_Mutation_p.S218P|SLC1A6_uc002nac.3_Missense_Mutation_p.S218P NM_005071 NP_005062 P48664 EAA4_HUMAN Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA. 218 synaptic transmission integral to plasma membrane|membrane fraction L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) CCCGGCTCAGACCCGTTCTCT 0.557000 114 26 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198950624 198950624 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:198950624C>T uc010fsp.3 + 1 2781 c.2383C>T c.(2383-2385)Cgt>Tgt p.R795C PLCL1_uc002uuv.4_Missense_Mutation_p.R716C NM_006226 NP_006217 Q15111 PLCL1_HUMAN Homo sapiens phospholipase C-like 1 (PLCL1), mRNA. 795 C2. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GGCCATGATCCGTTTTGTTGT 0.398000 89 69 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399356 179399356 + Missense_Mutation SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:179399356T>C uc021vsy.1 - 306 94507 c.94282A>G c.(94282-94284)Aca>Gca p.T31428A MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T25123A|TTN_uc021vta.1_Missense_Mutation_p.T25056A|TTN_uc021vtb.1_Missense_Mutation_p.T24931A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 32355 Fibronectin type-III 129. 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) CACATGTCTGTGGCTGTGCTG 0.468000 69 19 0 0 1 0 0 BSDC1 55108 broad.mit.edu 37 1 32842193 32842193 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:32842193G>A uc001bvi.3 - 8 924 c.877C>T c.(877-879)Cca>Tca p.P293S BSDC1_uc001bvh.4_Missense_Mutation_p.P276S|BSDC1_uc010ohg.2_Missense_Mutation_p.P293S|BSDC1_uc010ohh.2_Missense_Mutation_p.P220S|BSDC1_uc010ohi.2_Missense_Mutation_p.P181S|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Missense_Mutation_p.P172S Q9NW68 BSDC1_HUMAN Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA. 276 protein binding p.P293S(3) breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 17 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CTCTCTGATGGAGTCACCTCT 0.567000 122 35 0 0 1 0 0 HAP1 9001 broad.mit.edu 37 17 39882119 39882119 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:39882119G>A uc002hxm.1 - 10 1566 c.1554C>T c.(1552-1554)tcC>tcT p.S518S JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.S466S|HAP1_uc002hxo.1_Silent_p.S449S|HAP1_uc002hxp.1_Silent_p.S441S NM_177977 NP_817084 P54257 HAP1_HUMAN Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA. 518 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1) 21 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) ACCTTAGGCTGGATGTGTCCC 0.557000 82 21 0 0 1 0 0 SLC38A1 81539 broad.mit.edu 37 12 46600938 46600938 + Splice_Site SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:46600938G>A uc009zkj.1 - 8 1248 c.563_splice c.e8+1 p.S188_splice SLC38A1_uc001rpb.3_Splice_Site_p.S188_splice|SLC38A1_uc001rpc.3_Splice_Site_p.S188_splice|SLC38A1_uc001rpd.3_Splice_Site_p.S188_splice|SLC38A1_uc001rpe.3_Splice_Site_p.S188_splice|SLC38A1_uc010slh.2_Splice_Site_p.S161_splice|SLC38A1_uc001rpa.3_Splice_Site_p.S188_splice NM_030674 NP_109599 Q9H2H9 S38A1_HUMAN Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA. 188 cellular nitrogen compound metabolic process|neurotransmitter uptake integral to membrane|plasma membrane sodium:amino acid symporter activity NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2) 23 Lung SC(27;0.137)|Renal(347;0.236) all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344) TATAACTTACGAAAATGTCTC 0.313000 61 3 0 0 1 0 0 ZNF296 162979 broad.mit.edu 37 19 45579557 45579557 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:45579557C>T uc002pao.3 - 0 132 c.75G>A c.(73-75)atG>atA p.M25I GEMIN7_uc002pap.1_5'Flank|GEMIN7_uc002paq.1_5'Flank|GEMIN7_uc002par.1_5'Flank NM_145288 NP_660331 Q8WUU4 ZN296_HUMAN Homo sapiens zinc finger protein 296 (ZNF296), mRNA. 25 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E24K(1) breast(1)|lung(3)|prostate(1)|urinary_tract(2) 7 CCTGCATTTCCATCTCGTCGT 0.721000 55 15 0 0 1 0 0 SP5 389058 broad.mit.edu 37 2 171572790 171572790 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:171572790C>A uc002uge.3 + 1 239 c.73C>A c.(73-75)Ccg>Acg p.P25T LOC440925_uc002ugd.2_5'Flank NM_001003845 NP_001003845 Q6BEB4 SP5_HUMAN Homo sapiens Sp5 transcription factor (SP5), mRNA. 25 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|lung(1)|prostate(1) 5 CAGCGCCTCCCCGGACCTGGG 0.741000 86 14 0.00316338 0.00319814 1 1 0 C1orf127 148345 broad.mit.edu 37 1 11008327 11008327 + Missense_Mutation SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:11008327A>C uc010oao.2 - 11 1865 c.1865T>G c.(1864-1866)gTg>gGg p.V622G C1orf127_uc001ars.2_Missense_Mutation_p.V457G|C1orf127_uc001arr.2_Missense_Mutation_p.V465G NM_001170754 NP_001164225 B7ZLG7 B7ZLG7_HUMAN Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA. 473 NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5) 32 Ovarian(185;0.249) Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509) TGGCCTCTCCACCTCCGTTCC 0.662000 98 45 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50708721 50708721 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:50708721C>A uc001jhs.4 - 6 1702 c.1548G>T c.(1546-1548)agG>agT p.R516S ERCC6_uc010qgr.2_5'UTR|ERCC6_uc001jhr.4_5'UTR NM_000124 NP_000115 Q03468 ERCC6_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA. 516 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CCCACAGCCACCTAACACCTG 0.453000 Direct reversal of damage;Nucleotide excision repair (NER) 56 18 0.000132079 0.000133824 1 1 0 LMTK2 22853 broad.mit.edu 37 7 97823258 97823258 + Missense_Mutation SNP G C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:97823258G>C uc003upd.2 + 10 3774 c.3481G>C c.(3481-3483)Gat>Cat p.D1161H NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA. 1161 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3) 59 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) GAGCCAGCCAGATGAAAGTTG 0.587000 90 18 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141310678 141310678 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:141310678C>T uc003yvh.2 - 10 1967 c.1952G>A c.(1951-1953)cGg>cAg p.R651Q TRAPPC9_uc003yvj.2_Missense_Mutation_p.R553Q|TRAPPC9_uc003yvi.1_Missense_Mutation_p.R544Q NM_031466 NP_001153844 Q96Q05 TPPC9_HUMAN Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA. 553 cell differentiation Golgi apparatus|endoplasmic reticulum p.R651Q(4) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 TTTGTGTGGCCGGAGGCTAGC 0.438000 96 28 0 0 1 0 0 NUMB 8650 broad.mit.edu 37 14 73750930 73750930 + Missense_Mutation SNP G C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:73750930G>C uc001xny.1 - 9 1128 c.808C>G c.(808-810)Cag>Gag p.Q270E NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Intron|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Missense_Mutation_p.Q270E|NUMB_uc001xnz.1_Missense_Mutation_p.Q259E|NUMB_uc001xob.1_Missense_Mutation_p.Q259E|NUMB_uc001xod.1_Missense_Mutation_p.Q270E|NUMB_uc001xoc.1_Missense_Mutation_p.Q270E|NUMB_uc010ars.1_Missense_Mutation_p.Q259E|NUMB_uc001xof.1_Missense_Mutation_p.Q234E|NUMB_uc010ttz.1_Missense_Mutation_p.Q16E NM_001005743 NP_001005743 P49757 NUMB_HUMAN Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA. 270 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) CGAGCAAGCTGTTCAATTGGA 0.532000 115 32 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19766002 19766002 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:19766002G>A uc002nnh.4 - 11 1609 c.1581C>T c.(1579-1581)gtC>gtT p.V527V ATP13A1_uc002nnf.4_5'UTR|ATP13A1_uc002nng.3_Silent_p.V409V NM_020410 NP_065143 Q9HD20 AT131_HUMAN Homo sapiens ATPase type 13A1 (ATP13A1), mRNA. 527 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 AGCACACCTCGACCTTGCCAG 0.642000 55 15 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038834 75038834 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:75038834C>A uc001dgg.3 - 13 2779 c.2560G>T c.(2560-2562)Ggg>Tgg p.G854W NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 854 Glu-rich. p.G854W(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TCTGACCCCCCTTCACCCAGC 0.527000 116 40 2.87052e-16 3.02853e-16 1 1 0 EP400 57634 broad.mit.edu 37 12 132551986 132551986 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:132551986C>T uc001ujn.3 + 49 8981 c.8829C>T c.(8827-8829)gcC>gcT p.A2943A EP400_uc021rgq.1_Silent_p.A2942A|EP400_uc001ujm.3_Silent_p.A2862A|EP400_uc001ujp.3_Silent_p.A153A NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2979 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGCAGAAGGCCATCCAGCCCC 0.647000 135 38 0 0 1 0 0 C6orf15 29113 broad.mit.edu 37 6 31079682 31079682 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:31079682G>A uc003nsk.1 - 1 454 c.454C>T c.(454-456)Cct>Tct p.P152S PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank NM_014070 NP_054789 Q6UXA7 CF015_HUMAN Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA. 152 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 GACTCCCCAGGCAAAGGGCCA 0.642000 64 23 0 0 1 0 0 IGHE 3497 broad.mit.edu 37 14 106067264 106067264 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:106067264C>T uc001yrw.1 - 2 649 c.637G>A c.(637-639)Ggt>Agt p.G213S abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrx.2_Missense_Mutation_p.G160S|epsilon_IgE_uc010axp.1_5'Flank|IGHE_uc001yru.2_5'Flank RecName: Full=Ig epsilon chain C region; AAGGTGTGACCTTGATAGGTG 0.632000 22 15 0 0 1 0 0 PTPN4 5775 broad.mit.edu 37 2 120718393 120718393 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:120718393C>T uc002tmf.1 + 22 2915 c.2144C>T c.(2143-2145)cCt>cTt p.P715L PTPN4_uc010flj.1_Missense_Mutation_p.P428L|PTPN4_uc010yyr.1_Missense_Mutation_p.P348L NM_002830 NP_002821 P29074 PTN4_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA. 715 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1) 30 Alendronate(DB00630) ATGGAAATTCCTTCTTCCAGC 0.358000 41 30 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14001068 14001068 + Silent SNP A G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:14001068A>G uc002mxl.1 - 5 660 c.601T>C c.(601-603)Ttg>Ctg p.L201L C19orf57_uc002mxk.1_Silent_p.L83L NM_024323 NP_077299 Q0VDD7 CS057_HUMAN Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA. 201 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GAGGCGGACAACCCCGTCCCC 0.642000 117 43 0 0 1 0 0 KRT78 196374 broad.mit.edu 37 12 53232906 53232906 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:53232906G>A uc001sbc.1 - 8 1618 c.1554C>T c.(1552-1554)atC>atT p.I518I NM_173352 NP_775487 Q8N1N4 K2C78_HUMAN Homo sapiens keratin 78 (KRT78), mRNA. 518 Tail. keratin filament protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CTCAGTAGGTGATGGATGTCT 0.592000 49 30 0 0 1 0 0 PLCXD2 257068 broad.mit.edu 37 3 111432904 111432904 + Silent SNP G A A rs61755448 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:111432904G>A uc003dya.3 + 2 1365 c.795G>A c.(793-795)gcG>gcA p.A265A PLCXD2_uc003dxz.3_Silent_p.A265A NM_001185106 NP_001172035 Q0VAA5 PLCX2_HUMAN Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA. 265 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1) 17 TCTCCCAAGCGATCCTCACCC 0.572000 60 51 0 0 1 0 0 BBOX1 8424 broad.mit.edu 37 11 27141292 27141292 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:27141292C>T uc001mre.1 + 6 1104 c.736C>T c.(736-738)Cct>Tct p.P246S BBOX1_uc009yih.1_Missense_Mutation_p.P246S|BBOX1_uc001mrg.1_Missense_Mutation_p.P246S|BBOX1_uc021qfd.1_Missense_Mutation_p.P246S NM_003986 NP_003977 O75936 BODG_HUMAN Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA. 246 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) GAAAAATAATCCTCAGGCATT 0.358000 24 14 0 0 1 0 0 IRX1 79192 broad.mit.edu 37 5 3600196 3600196 + Silent SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:3600196A>C uc003jde.3 + 1 1186 c.1134A>C c.(1132-1134)gcA>gcC p.A378A NM_024337 NP_077313 P78414 IRX1_HUMAN Homo sapiens iroquois homeobox 1 (IRX1), mRNA. 378 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A378T(1) biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 CCAACAGCGCATTCCTCGCAC 0.682000 40 34 0 0 1 0 0 MARCH1 55016 broad.mit.edu 37 4 164507014 164507014 + Missense_Mutation SNP G A A rs146337383 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:164507014G>A uc003iqs.2 - 5 492 c.310C>T c.(310-312)Cgc>Tgc p.R104C MARCH1_uc003iqr.2_Missense_Mutation_p.R87C NM_001166373 NP_001159845 Q8TCQ1 MARH1_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA. 104 antigen processing and presentation of peptide antigen via MHC class II|immune response Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TGGACAAAGCGCAGTGTCCCA 0.527000 36 22 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186672566 186672566 + Missense_Mutation SNP T A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:186672566T>A uc002upl.3 + 16 18800 c.18800T>A c.(18799-18801)aTa>aAa p.I6267K FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TCTTATAACATAATAGAAGAA 0.308000 40 13 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39543653 39543653 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:39543653G>A uc001wup.1 - 8 1292 c.1069C>T c.(1069-1071)Ctc>Ttc p.L357F SEC23A_uc010tqa.1_Missense_Mutation_p.L219F|SEC23A_uc010tqb.1_Missense_Mutation_p.L328F|SEC23A_uc010tqc.1_Missense_Mutation_p.L219F NM_006364 NP_006355 Q15436 SC23A_HUMAN Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA. 357 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) ATCTCCAGGAGACCTGTCTGA 0.348000 162 37 0 0 1 0 0 NUP107 57122 broad.mit.edu 37 12 69094622 69094622 + Silent SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:69094622T>G uc001suf.3 + 6 784 c.669T>G c.(667-669)gcT>gcG p.A223A NUP107_uc001sug.3_Silent_p.A70A|NUP107_uc010stj.2_Silent_p.A194A NM_020401 NP_065134 P57740 NU107_HUMAN Homo sapiens nucleoporin 107kDa (NUP107), mRNA. 223 carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction Nup107-160 complex|condensed chromosome kinetochore|cytosol nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GGCTGCTGGCTTCTTTGTATA 0.388000 65 18 0 0 1 0 0 FAHD2B 151313 broad.mit.edu 37 2 97751483 97751483 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:97751483G>A uc002sxm.3 - 4 789 c.638C>T c.(637-639)aCc>aTc p.T213I NM_199336 NP_955368 Q6P2I3 FAH2B_HUMAN Homo sapiens fumarylacetoacetate hydrolase domain containing 2B (FAHD2B), mRNA. 213 hydrolase activity|metal ion binding kidney(5)|large_intestine(2)|lung(3)|skin(2) 12 AGGGCAGAAGGTGTCGAAGGT 0.592000 71 43 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100493830 100493830 + Nonsense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:100493830C>T uc003yiv.3 + 24 3781 c.3670C>T c.(3670-3672)Cag>Tag p.Q1224* VPS13B_uc003yiw.3_Nonsense_Mutation_p.Q1224*|VPS13B_uc003yiu.1_Nonsense_Mutation_p.Q1224*|VPS13B_uc003yix.1_Nonsense_Mutation_p.Q694* NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA. 1224 protein transport p.V1223I(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) CTCTCAGGTCCAGCTCTTCTA 0.363000 67 66 0 0 1 0 0 TBXAS1 6916 broad.mit.edu 37 7 139661859 139661859 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:139661859C>T uc011kqv.2 + 9 1337 c.1102C>T c.(1102-1104)Cct>Tct p.P368S TBXAS1_uc003vvh.3_Missense_Mutation_p.P322S|TBXAS1_uc010lne.3_Missense_Mutation_p.P254S|TBXAS1_uc011kqu.2_Missense_Mutation_p.P273S|TBXAS1_uc003vvi.3_Missense_Mutation_p.P322S|TBXAS1_uc011kqw.2_Missense_Mutation_p.P302S|TBXAS1_uc003vvj.3_Missense_Mutation_p.P322S NM_001166253 NP_001159725 P24557 THAS_HUMAN Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA. 321 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) CCAGCCCAGCCCTATGGCCAG 0.537000 39 49 0 0 1 0 0 HK2 3099 broad.mit.edu 37 2 75115083 75115083 + Missense_Mutation SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:75115083T>C uc002snd.3 + 15 4199 c.2273T>C c.(2272-2274)cTc>cCc p.L758P NM_000189 NP_000180 P52789 HXK2_HUMAN Homo sapiens hexokinase 2 (HK2), mRNA. 758 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 CGTAACATTCTCATCGATTTC 0.478000 113 29 0 0 1 0 0 DM119532 0 broad.mit.edu 37 11 64658877 64658877 + Splice_Site SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:64658877C>T uc021qla.1 + 1 c.1_splice c.e1-1 AB429224_uc009ypx.3_Intron|MIR192_uc010rnr.1_5'Flank|MIR194-2_uc010rns.1_Non-coding_Transcript Targeting Cells With Altered miRNA Expression. GTGGGCACTTCCACATGGAGT 0.647000 10 5 0 0 1 0 0 ZC3H6 376940 broad.mit.edu 37 2 113088848 113088848 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:113088848C>T uc002thq.1 + 11 2747 c.2353C>T c.(2353-2355)Ccc>Tcc p.P785S NM_198581 NP_940983 P61129 ZC3H6_HUMAN Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA. 785 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 TGCGTGGGATCCCAGGAAATT 0.473000 79 25 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89391084 89391084 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:89391084C>T uc003dqy.3 + 4 1375 c.1150C>T c.(1150-1152)Cct>Tct p.P384S EPHA3_uc003dqx.1_Missense_Mutation_p.P384S|EPHA3_uc021xbf.1_Missense_Mutation_p.P384S NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 384 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CCGCTTCCTCCCTCGACAGTT 0.473000 TSP Lung(6;0.00050) 96 27 0 0 1 0 0 WNK3 65267 broad.mit.edu 37 X 54224806 54224806 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:54224806G>A uc004dtc.2 - 23 5793 c.5354C>T c.(5353-5355)cCa>cTa p.P1785L WNK3_uc004dtd.2_Missense_Mutation_p.P1728L NM_020922 NP_065973 Q9BYP7 WNK3_HUMAN Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA. 1728 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 TGATGAAGTTGGAAATGCCTG 0.443000 17 13 0 0 1 0 0 ANTXR2 118429 broad.mit.edu 37 4 80990644 80990644 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:80990644G>A uc003hlz.4 - 2 1005 c.242C>T c.(241-243)tCt>tTt p.S81F ANTXR2_uc003hly.4_Missense_Mutation_p.S81F|ANTXR2_uc003hlx.1_Non-coding_Transcript|ANTXR2_uc010ijn.3_Missense_Mutation_p.S81F NM_001145794 NP_001139266 P58335 ANTR2_HUMAN Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA. 81 VWFA. endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 CACAATGAAAGATAATCTCAT 0.323000 Juvenile Hyaline Fibromatosis 11 4 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49152671 49152671 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:49152671G>A uc003cwd.2 - 11 2022 c.1703C>T c.(1702-1704)tCc>tTc p.S568F USP19_uc003cwa.3_Missense_Mutation_p.S376F|USP19_uc003cwb.3_Missense_Mutation_p.S654F|USP19_uc003cvz.4_Missense_Mutation_p.S671F|USP19_uc011bcg.2_Missense_Mutation_p.S659F|USP19_uc003cwc.2_Missense_Mutation_p.S326F|USP19_uc011bch.2_Missense_Mutation_p.S669F NM_006677 NP_006668 O94966 UBP19_HUMAN Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA. 568 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTTCAACTTGGAAGGCTGGAA 0.617000 42 7 0 0 1 0 0 SLC44A5 204962 broad.mit.edu 37 1 75681480 75681480 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:75681480C>T uc010oqz.1 - 17 1870 c.1804G>A c.(1804-1806)Gaa>Aaa p.E602K SLC44A5_uc001dgt.2_Missense_Mutation_p.E563K|SLC44A5_uc001dgs.2_Missense_Mutation_p.E521K|SLC44A5_uc001dgr.2_Missense_Mutation_p.E521K|SLC44A5_uc001dgu.3_Missense_Mutation_p.E563K|SLC44A5_uc010ora.2_Missense_Mutation_p.E557K|SLC44A5_uc010orb.2_Missense_Mutation_p.E433K NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 563 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 ATTGCATTTTCCAAACACCAG 0.338000 31 8 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879935 39879935 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:39879935C>T uc009vvt.1 + 0 4760 c.3998C>T c.(3997-3999)tCc>tTc p.S1333F MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN Homo sapiens KIAA0754 (KIAA0754), mRNA. 1197 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAGGAAGTTTCCCCCATTGGT 0.592000 32 13 0 0 1 0 0 PPCS 79717 broad.mit.edu 37 1 42922612 42922612 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:42922612C>T uc001chl.3 + 0 440 c.376C>T c.(376-378)Ccg>Tcg p.P126S ZMYND12_uc001chj.3_5'Flank|ZMYND12_uc010ojt.2_5'Flank|PPCS_uc001chk.3_Intron NM_024664 NP_078940 Q9HAB8 PPCS_HUMAN Homo sapiens phosphopantothenoylcysteine synthetase (PPCS), transcript variant 1, mRNA. 126 coenzyme biosynthetic process|pantothenate metabolic process cytosol phosphopantothenate--cysteine ligase activity p.P126L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|skin(3) 12 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GAATGCACTTCCGGGTTTTGC 0.622000 81 23 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57641084 57641084 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:57641084G>A uc002qny.3 + 3 1397 c.1041G>A c.(1039-1041)aaG>aaA p.K347K USP29_uc021vci.1_Silent_p.K347K NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 347 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAAAGATCAAGAGAGAATTAC 0.383000 88 21 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164735407 164735407 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:164735407G>A uc003fei.3 - 30 3751 c.3688C>T c.(3688-3690)Cgt>Tgt p.R1230C NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1230 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TATCCATAACGACATAATTGG 0.353000 HNSCC(35;0.089) 45 24 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116594303 116594303 + Silent SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:116594303A>C uc002tle.3 + 23 2196 c.2175A>C c.(2173-2175)atA>atC p.I725I DPP10_uc002tla.2_Silent_p.I721I|DPP10_uc002tlb.2_Silent_p.I671I|DPP10_uc002tlc.2_Silent_p.I717I|DPP10_uc002tlf.2_Silent_p.I714I NM_001178034 NP_001171505 Q8N608 DPP10_HUMAN Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA. 721 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ATATATTAATAATTCATGGAA 0.348000 120 35 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12825642 12825642 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:12825642G>A uc002mup.3 - 7 1621 c.1159C>T c.(1159-1161)Ctg>Ttg p.L387L TNPO2_uc002muq.3_Silent_p.L295L|TNPO2_uc002muo.3_Silent_p.L295L|TNPO2_uc002mur.3_Silent_p.L295L NM_013433 NP_038461 O14787 TNPO2_HUMAN Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA. 295 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CACTGGACCAGATGGGAGGCC 0.607000 100 11 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193176955 193176955 + Missense_Mutation SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:193176955A>C uc003ftd.3 - 13 1697 c.1589T>G c.(1588-1590)aTg>aGg p.M530R ATP13A4_uc003fte.1_Missense_Mutation_p.M530R|ATP13A4_uc011bsr.1_Missense_Mutation_p.M1R|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Missense_Mutation_p.M236R NM_032279 NP_115655 Q4VNC1 AT134_HUMAN Homo sapiens ATPase type 13A4 (ATP13A4), mRNA. 530 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GCAGCTGGCCATCGCTGCACA 0.537000 131 32 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184910508 184910508 + Missense_Mutation SNP G T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:184910508G>T uc003fpf.3 - 6 1754 c.1678C>A c.(1678-1680)Cca>Aca p.P560T EHHADH_uc011brs.2_Missense_Mutation_p.P464T NM_001966 NP_001957 Q08426 ECHP_HUMAN Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA. 560 3-hydroxyacyl-CoA dehydrogenase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) TCAGGAATTGGGCAGTACCTC 0.478000 63 34 1.22384e-17 1.29417e-17 1 1 0 DNAI1 27019 broad.mit.edu 37 9 34512373 34512373 + Silent SNP G C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:34512373G>C uc003zum.3 + 14 1633 c.1440G>C c.(1438-1440)gtG>gtC p.V480V NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA. 480 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) AGCTGAAGGTGGAAGGCAGCA 0.607000 Kartagener syndrome 60 22 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26584708 26584708 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:26584708C>T uc001mqw.3 - 3 1153 c.880G>A c.(880-882)Gat>Aat p.D294N ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.D267N|MUC15_uc001mqy.3_Intron NM_001135091 NP_663625 Q8N387 MUC15_HUMAN Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA. 267 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 GAAAATGAATCCGTTTTCCTT 0.398000 76 29 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000019 14000019 + Silent SNP G A A rs141570550 by1000genomes TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:14000019G>A uc002mxl.1 - 5 1709 c.1650C>T c.(1648-1650)ttC>ttT p.F550F C19orf57_uc002mxk.1_Silent_p.F432F NM_024323 NP_077299 Q0VDD7 CS057_HUMAN Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA. 550 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GTGGGGCTTCGAAGTCAGAGG 0.607000 42 10 0 0 1 0 0 CAST 831 broad.mit.edu 37 5 96011259 96011259 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:96011259C>A uc011cuo.1 + 1 131 c.47C>A c.(46-48)aCc>aAc p.T16N CAST_uc003klt.3_5'UTR|CAST_uc021ybr.1_Missense_Mutation_p.T31N|CAST_uc003klx.3_Missense_Mutation_p.T31N NM_173060 NP_775083 P20810 ICAL_HUMAN Homo sapiens calpastatin (CAST), transcript variant 2, mRNA. 84 calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 22 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) AGTGAAAAAACCAGTGAATCG 0.348000 49 14 3.41278e-10 3.51204e-10 1 1 0 PCSK5 5125 broad.mit.edu 37 9 78796463 78796463 + Missense_Mutation SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:78796463A>C uc004akc.2 + 15 2691 c.2153A>C c.(2152-2154)aAc>aCc p.N718T PCSK5_uc004ajz.3_Missense_Mutation_p.N718T|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_5'UTR NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 718 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GAAGAAACCAACAGCTGTGTT 0.453000 92 22 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28609492 28609492 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr18:28609492G>A uc002kwj.4 - 3 612 c.457C>T c.(457-459)Cca>Tca p.P153S DSC3_uc002kwi.4_Missense_Mutation_p.P153S NM_001941 NP_001932 Q14574 DSC3_HUMAN Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA. 153 Cadherin 1. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) AGAAACAATGGGAAAGGGCCC 0.408000 44 14 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103544382 103544382 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:103544382G>A uc001dum.3 - 2 638 c.320C>T c.(319-321)cCa>cTa p.P107L COL11A1_uc001dul.3_Missense_Mutation_p.P107L|COL11A1_uc001dun.3_Missense_Mutation_p.P107L|COL11A1_uc009weh.3_Missense_Mutation_p.P107L NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 107 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.K106K(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCTTTTTTTGGTTTTACTGT 0.328000 17 11 0 0 1 0 0 REPS1 85021 broad.mit.edu 37 6 139265137 139265137 + Nonsense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:139265137G>A uc003qii.3 - 5 1348 c.769C>T c.(769-771)Cga>Tga p.R257* REPS1_uc003qig.4_Nonsense_Mutation_p.R257*|REPS1_uc011edr.2_Nonsense_Mutation_p.R257*|REPS1_uc003qij.3_Nonsense_Mutation_p.R257*|REPS1_uc003qik.3_Intron NM_031922 NP_114128 Q96D71 REPS1_HUMAN Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA. 257 coated pit|plasma membrane SH3 domain binding|calcium ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 19 GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548) GCTACAGTTCGTACTGTTGTC 0.358000 18 23 0 0 1 0 0 SH2D2A 9047 broad.mit.edu 37 1 156777007 156777007 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:156777007C>T uc009wsh.2 - 7 1303 c.1163G>A c.(1162-1164)aGa>aAa p.R388K SH2D2A_uc001fqc.1_Missense_Mutation_p.R350K|SH2D2A_uc001fqd.2_Missense_Mutation_p.R378K|SH2D2A_uc001fqe.2_Missense_Mutation_p.R360K|SH2D2A_uc010phs.1_Missense_Mutation_p.R378K NM_001161441 NP_001154913 Q9NP31 SH22A_HUMAN Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA. 378 Pro-rich. angiogenesis|cell differentiation|signal transduction cytoplasm|soluble fraction SH3 domain binding|SH3/SH2 adaptor activity endometrium(1)|large_intestine(2)|lung(15) 18 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGCCTGTCCTCTGTCCTGAAG 0.592000 82 101 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263073 1263073 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:1263073G>A uc001lta.3 + 30 5022 c.4963G>A c.(4963-4965)Gaa>Aaa p.E1655K NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 1655 7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CACCCTCTCAGAAGGACTGAC 0.667000 19 6 0 0 1 0 0 NFKBIB 4793 broad.mit.edu 37 19 39396029 39396029 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:39396029C>T uc002ojw.3 + 2 576 c.473C>T c.(472-474)cCc>cTc p.P158L NFKBIB_uc010egk.2_Missense_Mutation_p.P72L|NFKBIB_uc002ojx.3_Missense_Mutation_p.P126L|NFKBIB_uc002ojy.3_Missense_Mutation_p.P158L NM_002503 NP_001230045 Q15653 IKBB_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA. 158 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) AGGGAAGCCCCCGACACCTAC 0.692000 72 30 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169511239 169511239 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:169511239C>T uc001ggg.1 - 12 3234 c.3089G>A c.(3088-3090)cGa>cAa p.R1030Q NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 1030 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTTCTTTTTTCGTGTCTTAAT 0.408000 302 52 0 0 1 0 0 RPL23AP82 284942 broad.mit.edu 37 22 51237414 51237414 + RNA SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr22:51237414G>A uc003bni.3 + 3 c.869G>A RPL23AP82_uc003bns.3_Non-coding_Transcript|RPL23AP82_uc010hbj.3_Non-coding_Transcript Homo sapiens ribosomal protein L23a pseudogene 82 (RPL23AP82), transcript variant 1, non-coding RNA. lung(1) 1 AGATCAGACAGGCTGTGAAGA 0.478000 48 8 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16962020 16962020 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:16962020G>A uc001ioo.3 - 43 6815 c.6763C>T c.(6763-6765)Ccg>Tcg p.P2255S NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 2255 CUB 16. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CGTGTTTCCGGTGGAGCCGCT 0.458000 15 54 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197446863 197446863 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:197446863C>T uc001gtz.3 + 11 4284 c.4075C>T c.(4075-4077)Ctc>Ttc p.L1359F CRB1_uc010poz.2_Missense_Mutation_p.L1335F|CRB1_uc009wza.3_Missense_Mutation_p.L1247F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.L823F|CRB1_uc010ppd.2_Missense_Mutation_p.L840F NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 1359 cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GTTACTGATCCTCTTGCTGGC 0.507000 32 59 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112524968 112524968 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:112524968G>A uc001ebu.1 - 1 861 c.381C>T c.(379-381)atC>atT p.I127I KCND3_uc001ebv.1_Silent_p.I127I NM_004980 NP_004971 Q9UK17 KCND3_HUMAN Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA. 127 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) AGTCCCCGATGATCTCCGGGA 0.607000 51 27 0 0 1 0 0 ZNF607 84775 broad.mit.edu 37 19 38189673 38189673 + Missense_Mutation SNP T A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:38189673T>A uc002ohc.2 - 4 1955 c.1359A>T c.(1357-1359)gaA>gaT p.E453D ZNF607_uc002ohb.2_Missense_Mutation_p.E452D NM_032689 NP_116078 Q96SK3 ZN607_HUMAN Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA. 453 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) ACTTCCCACATTCTTTACATT 0.418000 57 66 0 0 1 0 0 NFKBIA 4792 broad.mit.edu 37 14 35872415 35872415 + Missense_Mutation SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:35872415A>C uc001wtf.4 - 2 598 c.488T>G c.(487-489)cTg>cGg p.L163R NM_020529 NP_065390 P25963 IKBA_HUMAN Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA. 163 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(3)|endometrium(1)|large_intestine(2)|liver(1) 7 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) GGACTGAGTCAGGACTCCCAC 0.627000 124 32 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210557689 210557689 + Nonsense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:210557689G>A uc002vde.1 + 6 1043 c.795G>A c.(793-795)tgG>tgA p.W265* MAP2_uc002vdc.1_Nonsense_Mutation_p.W265*|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Nonsense_Mutation_p.W261* NM_002374 NP_002365 P11137 MAP2_HUMAN Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA. 265 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AAAAGGACTGGTTCATCGAAA 0.478000 70 21 0 0 1 0 0 PPP2R5B 5526 broad.mit.edu 37 11 64695896 64695896 + Splice_Site SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:64695896C>T uc001obz.3 + 5 1015 c.722_splice c.e5+1 p.R241_splice PPP2R5B_uc001oby.3_Splice_Site_p.R241_splice NM_006244 NP_006235 Q15173 2A5B_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA. 241 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2) 21 CATCTTCCTCCGGTGAGTGGC 0.607000 54 32 0 0 1 0 0 IZUMO1 284359 broad.mit.edu 37 19 49245503 49245503 + Missense_Mutation SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:49245503T>G uc002pkj.3 - 6 1111 c.563A>C c.(562-564)cAg>cCg p.Q188P RASIP1_uc002pki.3_5'Flank|IZUMO1_uc010eme.3_Non-coding_Transcript|IZUMO1_uc010emf.3_Non-coding_Transcript NM_182575 NP_872381 Q8IYV9 IZUM1_HUMAN Homo sapiens izumo sperm-egg fusion 1 (IZUMO1), mRNA. 188 Ig-like C2-type. fusion of sperm to egg plasma membrane integral to membrane endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 17 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TTCCGAAGCCTGATGCCAGTT 0.493000 129 32 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 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 84 72 0 0 1 0 0 RPP25 54913 broad.mit.edu 37 15 75248413 75248413 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:75248413C>T uc002azj.1 - 0 1363 c.512G>A c.(511-513)aGg>aAg p.R171K NM_017793 NP_060263 Q9BUL9 RPP25_HUMAN Homo sapiens ribonuclease P/MRP 25kDa subunit (RPP25), mRNA. 171 tRNA processing nucleus RNA binding|protein binding|ribonuclease P activity breast(1)|lung(1) 2 CCCTAGGCTCCTCTTGGACGC 0.677000 14 4 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10310251 10310251 + Missense_Mutation SNP G T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:10310251G>T uc002gmm.2 - 17 2106 c.2011C>A c.(2011-2013)Cac>Aac p.H671N AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 671 Actin-binding.|Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle p.H671Y(2) NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CGTACGAAGTGAGGGTGTGTG 0.383000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 39 11 1.08611e-07 1.10778e-07 1 1 0 NDST4 64579 broad.mit.edu 37 4 115769369 115769369 + Splice_Site SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:115769369A>C uc003ibu.3 - 9 2619 c.1940_splice c.e9+1 p.W647_splice NDST4_uc010imw.3_Splice_Site NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA. 647 Heparan sulfate N-sulfotransferase 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) TATTTTTCTTACCAGTCTATT 0.343000 51 9 0 0 1 0 0 ZNF205 7755 broad.mit.edu 37 16 3169515 3169515 + Missense_Mutation SNP A G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:3169515A>G uc002cub.3 + 6 989 c.854A>G c.(853-855)gAg>gGg p.E285G ZNF205_uc002cua.3_Missense_Mutation_p.E285G NM_001042428 NP_003447 O95201 ZN205_HUMAN Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA. 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.E284E(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 CCCAACGAGGAGGAGAAGGGC 0.706000 15 7 0 0 1 0 0 JSRP1 126306 broad.mit.edu 37 19 2255220 2255220 + Nonsense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:2255220C>A uc002lvj.2 - 1 165 c.94G>T c.(94-96)Gag>Tag p.E32* NM_144616 NP_653217 Q96MG2 JSPR1_HUMAN Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA. 32 Mediates interaction with CACNA1S (By similarity). sarcoplasmic reticulum membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1) 6 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) GCCCTGTCCTCCTGGGTCTCG 0.647000 59 9 0.00448238 0.0045217 1 1 0 CXorf57 55086 broad.mit.edu 37 X 105855852 105855852 + Nonsense_Mutation SNP T A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:105855852T>A uc004emi.4 + 0 693 c.542T>A c.(541-543)tTa>tAa p.L181* CXorf57_uc004emj.4_Nonsense_Mutation_p.L181*|CXorf57_uc004emh.2_Nonsense_Mutation_p.L181* NM_018015 NP_060485 Q6NSI4 CX057_HUMAN Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA. 181 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 GAGAGGCCTTTAAGAGGCGGG 0.468000 84 35 0 0 1 0 0 GAS2L3 283431 broad.mit.edu 37 12 101018530 101018530 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:101018530C>T uc001thu.3 + 9 2173 c.1947C>T c.(1945-1947)ggC>ggT p.G649G GAS2L3_uc009zty.3_Silent_p.G649G|GAS2L3_uc001thv.3_Silent_p.G545G NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA. 649 cell cycle arrest endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 CCAGAAGTGGCAAAACCCCAG 0.463000 60 15 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120597670 120597670 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:120597670G>A uc001txo.3 - 23 2721 c.2708C>T c.(2707-2709)tCc>tTc p.S903F NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 903 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCAGCCAAGGACAAGAAGGG 0.587000 92 31 0 0 1 0 0 SPTB 6710 broad.mit.edu 37 14 65246616 65246616 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:65246616C>T uc001xht.3 - 19 4351 c.4300G>A c.(4300-4302)Gag>Aag p.E1434K SPTB_uc001xhr.3_Missense_Mutation_p.E1434K|SPTB_uc001xhs.3_Missense_Mutation_p.E1434K|SPTB_uc001xhu.3_Missense_Mutation_p.E1434K|SPTB_uc010aqi.3_Missense_Mutation_p.E95K NM_000347 NP_000338 P11277 SPTB1_HUMAN Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA. 1434 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton p.E1433E(1) breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3) 106 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TCCCCCAGCTCCTCTTTTCGC 0.582000 131 76 0 0 1 0 0 MFSD2A 84879 broad.mit.edu 37 1 40434031 40434031 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:40434031G>A uc001cev.3 + 11 1454 c.1273G>A c.(1273-1275)Gac>Aac p.D425N MFSD2A_uc010ojb.1_Missense_Mutation_p.D373N|MFSD2A_uc001ceu.3_Missense_Mutation_p.D412N|MFSD2A_uc010ojc.2_Missense_Mutation_p.D256N|MFSD2A_uc009vvy.3_Non-coding_Transcript NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA. 425 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TGTCATTGACGACTTCCATCT 0.537000 48 24 0 0 1 0 0 NDOR1 27158 broad.mit.edu 37 9 140110573 140110573 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:140110573C>T uc004clx.3 + 12 1720 c.1609C>T c.(1609-1611)Ctc>Ttc p.L537F NDOR1_uc004clw.3_Missense_Mutation_p.L528F|NDOR1_uc011mes.2_Missense_Mutation_p.L521F|NDOR1_uc004cly.3_Missense_Mutation_p.L494F NM_001144026 NP_001137498 Q9UHB4 NDOR1_HUMAN Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA. 528 cell death cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) GCAGCACCGGCTCCGGGAGCT 0.647000 66 23 0 0 1 0 0 COL20A1 57642 broad.mit.edu 37 20 61952392 61952392 + Missense_Mutation SNP G C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:61952392G>C uc011aau.2 + 25 3281 c.3181G>C c.(3181-3183)Gtg>Ctg p.V1061L COL20A1_uc011aav.2_Missense_Mutation_p.V882L NM_020882 NP_065933 Q9P218 COKA1_HUMAN Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA. 1061 cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) CCCCGCCTTCGTGTCTGCCTG 0.607000 7 18 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28877922 28877922 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:28877922C>T uc002dri.3 + 3 946 c.507C>T c.(505-507)atC>atT p.I169I NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Silent_p.I169I|SH2B1_uc002drk.3_Silent_p.I169I|SH2B1_uc002drl.3_Silent_p.I169I|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Silent_p.I169I|SH2B1_uc002drm.3_Silent_p.I169I NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA. 169 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 TCCGTGGCATCCTGCAGTGGC 0.622000 63 26 0 0 1 0 0 NAA16 79612 broad.mit.edu 37 13 41943342 41943342 + Nonsense_Mutation SNP C T T rs77958839 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr13:41943342C>T uc001uyf.2 + 14 2194 c.1870C>T c.(1870-1872)Caa>Taa p.Q624* NAA16_uc010tfg.1_Non-coding_Transcript NM_024561 NP_078837 Q6N069 NAA16_HUMAN Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA. 624 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2) 31 acagaaaaatcaaaagaaaaa 0.353000 13 27 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52505549 52505549 + Missense_Mutation SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:52505549T>G uc001wzo.3 - 8 2407 c.2173A>C c.(2173-2175)Aac>Cac p.N725H NID2_uc010tqs.2_Missense_Mutation_p.N725H|NID2_uc010tqt.1_Missense_Mutation_p.N725H|NID2_uc001wzp.3_Missense_Mutation_p.N725H NM_007361 NP_031387 Q14112 NID2_HUMAN Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA. 725 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CGGTCCACGTTCAGCTGCTGG 0.512000 115 17 0 0 1 0 0 HHLA2 11148 broad.mit.edu 37 3 108072446 108072446 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:108072446C>T uc003dwz.3 + 3 651 c.237C>T c.(235-237)gaC>gaT p.D79D HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Silent_p.D79D|HHLA2_uc003dwy.4_Silent_p.D79D NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA. 79 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 AAGGCAGTGACCATTTGGAAA 0.398000 64 12 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167085475 167085475 + Missense_Mutation SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:167085475A>C uc010fpl.3 - 21 4240 c.3899T>G c.(3898-3900)gTg>gGg p.V1300G BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1311 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) GAGTGCATTCACAACGACCTA 0.348000 66 22 0 0 1 0 0 LEFTY1 10637 broad.mit.edu 37 1 226076544 226076544 + Missense_Mutation SNP C T T rs146054726 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:226076544C>T uc001hpo.3 - 0 303 c.223G>A c.(223-225)Gga>Aga p.G75R PYCR2_uc010pvj.2_Intron|LEFTY1_uc009xej.2_Missense_Mutation_p.G75R NM_020997 NP_066277 O75610 LFTY1_HUMAN Homo sapiens left-right determination factor 1 (LEFTY1), mRNA. 75 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding p.R74L(1) cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) AACCTCTTTCCGCGGGAGCGG 0.682000 74 13 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113265480 113265480 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:113265480G>A uc010mtz.3 - 5 1658 c.1321C>T c.(1321-1323)Ctc>Ttc p.L441F SVEP1_uc010mua.1_Missense_Mutation_p.L441F|SVEP1_uc004beu.2_Missense_Mutation_p.L441F NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 441 Sushi 2. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.H440Y(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GGCTGGCGGAGATGAGGACAT 0.373000 52 52 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8421183 8421183 + Missense_Mutation SNP A G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:8421183A>G uc001ape.3 - 18 3194 c.2384T>C c.(2383-2385)gTt>gCt p.V795A RERE_uc001apf.3_Missense_Mutation_p.V795A|RERE_uc010nzx.1_Missense_Mutation_p.V527A|RERE_uc001apd.3_Missense_Mutation_p.V241A NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 795 Pro-rich. NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGTGTGGGGAACAGGCGCTGT 0.731000 2 2 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56462777 56462777 + Missense_Mutation SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:56462777T>C uc003pcy.4 - 27 4195 c.4087A>G c.(4087-4089)Agc>Ggc p.S1363G DST_uc010kaa.1_Non-coding_Transcript NM_015548 NP_056363 Q03001 DYST_HUMAN Homo sapiens dystonin (DST), transcript variant 1eA, mRNA. 3775 K -> E (in Ref. 3; AAL62061). cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity p.E1363*(1) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTGGTTTTGCTCTCTTCCAGC 0.438000 42 23 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74350637 74350637 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:74350637C>T uc003dpm.1 - 14 2087 c.2007G>A c.(2005-2007)gtG>gtA p.V669V NM_020872 NP_065923 Q9P232 CNTN3_HUMAN Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA. 669 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) ATTCATATTCCACCCATGGGT 0.438000 87 35 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235866078 235866078 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:235866078G>A uc001hxj.2 - 44 10518 c.10343C>T c.(10342-10344)aCc>aTc p.T3448I LYST_uc001hxi.2_Missense_Mutation_p.T672I NM_000081 NP_000072 Q99698 LYST_HUMAN Homo sapiens lysosomal trafficking regulator (LYST), mRNA. 3448 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding p.E3447D(1)|p.E3447Q(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CTGTTCTCGGGTCTCCCTGAA 0.498000 58 114 0 0 1 0 0 OR52I1 390037 broad.mit.edu 37 11 4615507 4615507 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:4615507C>T uc010qyi.2 + 0 239 c.239C>T c.(238-240)tCc>tTc p.S80F NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA. 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S105F(2) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGGCCTCCTCCGTGGTACCC 0.502000 71 27 0 0 1 0 0 HERPUD2 64224 broad.mit.edu 37 7 35673969 35673969 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:35673969C>T uc003tes.4 - 7 1671 c.1012G>A c.(1012-1014)Gtt>Att p.V338I HERPUD2_uc003tet.3_Missense_Mutation_p.V338I NM_022373 NP_071768 Q9BSE4 HERP2_HUMAN Homo sapiens HERPUD family member 2 (HERPUD2), mRNA. 338 response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 TCATTGTTAACTTCGGCATTA 0.383000 46 9 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38655486 38655486 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:38655486C>T uc002ohk.3 + 14 4657 c.4148C>T c.(4147-4149)tCc>tTc p.S1383F NM_015073 NP_055888 O60292 SI1L3_HUMAN Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA. 1383 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTGTACTCCTCCGGCTCCAGC 0.687000 20 23 0 0 1 0 0 GIT1 28964 broad.mit.edu 37 17 27904665 27904665 + Nonsense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:27904665G>A uc002heg.2 - 10 1220 c.1006C>T c.(1006-1008)Cag>Tag p.Q336* GIT1_uc002hef.2_Nonsense_Mutation_p.Q327*|GIT1_uc010wbg.1_Nonsense_Mutation_p.Q336* NM_001085454 NP_001078923 Q9Y2X7 GIT1_HUMAN Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA. 327 ARHGEF6-binding (By similarity).|PTK2-binding (By similarity). regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|focal adhesion ARF GTPase activator activity|protein binding|zinc ion binding large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069) CCCCTCACCTGATTCCGCGTG 0.632000 67 76 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122399997 122399997 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:122399997G>A uc009zxk.3 + 14 2580 c.2421G>A c.(2419-2421)agG>agA p.R807R WDR66_uc021rfh.1_Silent_p.R807R NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA. 807 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CACTCACCAGGGAACTCTTCC 0.517000 87 21 0 0 1 0 0 NMU 10874 broad.mit.edu 37 4 56482528 56482528 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:56482528G>A uc003hbc.3 - 2 302 c.196C>T c.(196-198)Ctg>Ttg p.L66L NMU_uc003hbd.1_Non-coding_Transcript|NMU_uc010igv.1_Non-coding_Transcript|NMU_uc010igw.1_Intron|NMU_uc010igx.1_Non-coding_Transcript NM_006681 NP_006672 P48645 NMU_HUMAN Homo sapiens neuromedin U (NMU), mRNA. 66 neuropeptide signaling pathway extracellular region lung(3)|ovary(1)|urinary_tract(1) 5 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) TCAATGGACAGAAAAGACGAA 0.348000 44 11 0 0 1 0 0 TEX101 83639 broad.mit.edu 37 19 43922110 43922110 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:43922110C>A uc002owk.3 + 7 1087 c.526C>A c.(526-528)Ccc>Acc p.P176T TEX101_uc010xwo.2_Missense_Mutation_p.P158T NM_031451 NP_001123483 Q9BY14 TX101_HUMAN Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA. 158 anchored to membrane|plasma membrane p.C175F(1) large_intestine(1)|lung(12)|ovary(1)|skin(1) 15 Prostate(69;0.0199) TCTTCCCTGTCCCAATGGTAC 0.463000 149 35 6.53348e-20 6.97308e-20 1 1 0 TNK2 10188 broad.mit.edu 37 3 195595288 195595288 + Silent SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:195595288C>A uc003fvu.1 - 11 2379 c.1836G>T c.(1834-1836)ctG>ctT p.L612L TNK2_uc003fvq.1_Silent_p.L19L|TNK2_uc003fvr.1_Silent_p.L137L|TNK2_uc003fvs.1_Silent_p.L644L|TNK2_uc003fvt.1_Silent_p.L690L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR NM_005781 NP_005772 Q07912 ACK1_HUMAN Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA. 612 Pro-rich. Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GGGGCCGGGGCAGTGCCCGCG 0.746000 49 15 4.7546e-09 4.88196e-09 1 1 0 GPR112 139378 broad.mit.edu 37 X 135482222 135482222 + Missense_Mutation SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:135482222T>C uc004ezu.1 + 20 8813 c.8522T>C c.(8521-8523)gTc>gCc p.V2841A GPR112_uc010nsb.1_Missense_Mutation_p.V2636A NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 2841 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTAGTCAAAGTCTTCAACATA 0.378000 50 18 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46862498 46862498 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:46862498C>T uc021tzm.1 - 12 1862 c.1827G>A c.(1825-1827)agG>agA p.R609R TTLL6_uc002iob.3_Silent_p.R302R|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Silent_p.R362R|TTLL6_uc002iod.3_Silent_p.R456R NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA. 561 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 TTTCATTTTTCCTTTCACCTC 0.517000 81 26 0 0 1 0 0 GJA1 2697 broad.mit.edu 37 6 121769004 121769004 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:121769004C>T uc003pyr.3 + 1 1261 c.1011C>T c.(1009-1011)ttC>ttT p.F337F GJA1_uc011ebo.1_Silent_p.F238F|GJA1_uc011ebp.1_Silent_p.F125F|GJA1_uc021zel.1_Silent_p.F337F NM_000165 NP_000156 P17302 CXA1_HUMAN Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA. 337 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) CTTTTGATTTCCCCGATGATA 0.483000 90 28 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115335708 115335708 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:115335708G>A uc001lai.4 + 3 379 c.276G>A c.(274-276)ggG>ggA p.G92G HABP2_uc021pyr.1_Silent_p.G66G|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.G81E NM_004132 NP_001171131 Q14520 HABP2_HUMAN Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA. 92 EGF-like 1. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) TCGTCCATGGGAGCACCTTCA 0.527000 128 52 0 0 1 0 0 EXOG 9941 broad.mit.edu 37 3 38565421 38565421 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:38565421C>T uc003cih.2 + 5 771 c.675C>T c.(673-675)ccC>ccT p.P225P EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_Silent_p.P85P|EXOG_uc003cii.2_Silent_p.P85P|EXOG_uc011ayq.1_Silent_p.P175P|EXOG_uc003cij.2_Silent_p.P85P|EXOG_uc010hhd.2_Silent_p.P85P|EXOG_uc010hhe.2_Silent_p.P85P|EXOG_uc003cik.2_Silent_p.P85P NM_005107 NP_005098 Q9Y2C4 EXOG_HUMAN Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 225 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 17 TGGCAGTCCCCTCACACCTTT 0.478000 51 44 0 0 1 0 0 PRMT5 10419 broad.mit.edu 37 14 23392335 23392335 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:23392335G>A uc001whm.1 - 12 1501 c.1410C>T c.(1408-1410)tcC>tcT p.S470S PRMT5_uc001whl.1_Silent_p.S453S|PRMT5_uc010tnf.1_Silent_p.S364S|PRMT5_uc010tnh.1_Silent_p.S426S|PRMT5_uc010tng.1_Silent_p.S409S|PRMT5_uc001whn.1_Silent_p.S299S NM_006109 NP_006100 O14744 ANM5_HUMAN Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA. 470 cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding p.T469T(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 25 all_cancers(95;2.76e-05) GBM - Glioblastoma multiforme(265;0.0126) GAGCCAGAAAGGAAGTGTACT 0.517000 22 6 0 0 1 0 0 EPN3 55040 broad.mit.edu 37 17 48614177 48614177 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:48614177C>T uc010wms.2 + 2 613 c.425C>T c.(424-426)aCg>aTg p.T142M EPN3_uc002ira.4_Missense_Mutation_p.T87M|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Missense_Mutation_p.T87M Q9H201 EPN3_HUMAN Homo sapiens epsin 3 (EPN3), mRNA. 87 ENTH. clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm lipid binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;2.88e-09) CTGCTCAAGACGGGCTCCGAG 0.612000 127 62 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1879778 1879778 + Nonsense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:1879778C>T uc003jcz.2 - 3 695 c.576G>A c.(574-576)tgG>tgA p.W192* IRX4_uc011cmf.1_Nonsense_Mutation_p.W53* NM_016358 NP_057442 P78413 IRX4_HUMAN Homo sapiens iroquois homeobox 4 (IRX4), mRNA. 192 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) CGTTGGCGAACCAGGTGGAGA 0.642000 167 63 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296282 39296282 + Missense_Mutation SNP G T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:39296282G>T uc010cxk.2 - 0 458 c.458C>A c.(457-459)tCt>tAt p.S153Y NM_030976 NP_112238 Q9BYQ5 KRA46_HUMAN Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA. 149 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 ttcacagcaagaggggcggca 0.662000 72 7 0.248553 0.248553 1 1 0 ATP2B3 492 broad.mit.edu 37 X 152823641 152823641 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:152823641C>T uc004fht.1 + 14 2631 c.2505C>T c.(2503-2505)atC>atT p.I835I ATP2B3_uc004fhs.1_Silent_p.I835I|ATP2B3_uc010nuf.1_5'Flank NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA. 835 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCACCAGCATCGTCAAGGCAG 0.572000 35 108 0 0 1 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215876 20215876 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:20215876G>A uc010tkt.2 + 0 290 c.290G>A c.(289-291)gGa>gAa p.G97E NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTTTTTCAGGATGCCTGGCC 0.473000 94 23 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65490771 65490771 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:65490771C>T uc002aon.2 - 8 2034 c.1853G>A c.(1852-1854)gGa>gAa p.G618E NM_003613 NP_003604 O75339 CILP1_HUMAN Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA. 618 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CTTCACTTTTCCTATGTAGGG 0.527000 100 39 0 0 1 0 0 LOC255025 255025 broad.mit.edu 37 3 94890849 94890849 + RNA SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:94890849C>T uc003drn.3 + 2 c.313C>T Homo sapiens uncharacterized LOC255025 (LOC255025), non-coding RNA. ACAGCCTCTGCCATCACTATC 0.463000 21 10 0 0 1 0 0 MTMR11 10903 broad.mit.edu 37 1 149908093 149908093 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:149908093G>A uc001etl.4 - 1 347 c.96C>T c.(94-96)ccC>ccT p.P32P MTMR11_uc001etm.2_5'UTR|MTMR11_uc010pbm.1_Silent_p.P4P|MTMR11_uc010pbn.1_5'Flank|MTMR11_uc010pbo.1_Non-coding_Transcript NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA. 32 phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) GACGACTCCTGGGCTCCGGCA 0.557000 46 98 0 0 1 0 0 MLL3 58508 broad.mit.edu 37 7 151927113 151927113 + Splice_Site SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:151927113C>T uc003wla.3 - 18 3091 c.2872_splice c.e18-1 p.D958_splice MLL3_uc003wkz.3_Splice_Site_p.D19_splice NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA. 958 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding p.?(2) NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15) 365 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CACACATATCCTGAAGTTAAG 0.353000 N medulloblastoma 282 12 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10874452 10874452 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:10874452G>A uc003mzn.4 - 4 1369 c.1297C>T c.(1297-1299)Ccg>Tcg p.P433S SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA. 433 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding p.P433P(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) ACTGTCACCGGAGGACCCCAG 0.547000 53 18 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136590601 136590601 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:136590601C>T uc003qgx.1 - 8 2446 c.2193G>A c.(2191-2193)aaG>aaA p.K731K BCLAF1_uc011edb.1_5'Flank|BCLAF1_uc003qgy.1_Silent_p.K729K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.K729K|BCLAF1_uc003qgw.1_Silent_p.K558K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 731 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ATTTGTATTCCTTGTAATCTT 0.368000 44 4 0 0 1 0 0 TMEM183B 653659 broad.mit.edu 37 1 202984110 202984110 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:202984110C>T uc001gyu.1 + 3 521 c.461C>T c.(460-462)tCc>tTc p.S154F TMEM183B_uc009xai.1_Missense_Mutation_p.S154F|TMEM183B_uc001gyv.1_Non-coding_Transcript|TMEM183B_uc001gyw.1_Missense_Mutation_p.S153F NM_001079809 NP_001073277 Q1AE95 T183B_HUMAN Homo sapiens transmembrane protein 183B (TMEM183B), mRNA. 154 integral to membrane BRCA - Breast invasive adenocarcinoma(75;0.18) GTGAATTTTTCCCTGATTTGT 0.488000 35 8 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19747328 19747328 + Missense_Mutation SNP G C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:19747328G>C uc003jgd.3 - 3 780 c.246C>G c.(244-246)gaC>gaG p.D82E CDH18_uc011cnm.2_Missense_Mutation_p.D82E|CDH18_uc003jgc.3_Missense_Mutation_p.D82E|CDH18_uc021xwu.1_Missense_Mutation_p.D82E NM_004934 NP_004925 Q13634 CAD18_HUMAN Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA. 82 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CATCACCTTTGTCAGAATTGG 0.383000 56 17 0 0 1 0 0 ZNF300 91975 broad.mit.edu 37 5 150275188 150275188 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:150275188C>A uc021yfx.1 - 6 2089 c.1661G>T c.(1660-1662)gGa>gTa p.G554V ZNF300_uc021yfy.1_Missense_Mutation_p.G538V|ZNF300_uc021yfz.1_Missense_Mutation_p.G502V NM_001172831 NP_001166303 Q96RE9 ZN300_HUMAN Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA. 538 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCGCTGGTGTCCCGGAAGGTG 0.423000 36 19 3.57192e-18 3.78591e-18 1 1 0 ZNF20 7568 broad.mit.edu 37 19 12243515 12243515 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:12243515G>A uc002mtg.2 - 7 2068 c.1486C>T c.(1486-1488)Cat>Tat p.H496Y ZNF20_uc002mte.2_Missense_Mutation_p.H461Y|ZNF20_uc002mtf.2_Missense_Mutation_p.H496Y|ZNF20_uc021upm.1_Missense_Mutation_p.H493Y NM_021143 NP_066966 P17024 ZNF20_HUMAN Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA. 496 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|lung(6) 8 GTCCTTTCATGATATCGAATG 0.413000 177 61 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121000450 121000450 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:121000450C>T uc010rzo.2 + 8 2471 c.2471C>T c.(2470-2472)aCt>aTt p.T824I NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 824 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) GGCGTGGTGACTGTCCAGTAC 0.488000 117 38 0 0 1 0 0 CYP26A1 1592 broad.mit.edu 37 10 94834291 94834291 + Splice_Site SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:94834291T>C uc001kil.2 + 2 459 c.414_splice c.e2+2 p.K138_splice CYP26A1_uc001kik.1_Splice_Site_p.K69_splice NM_000783 NP_000774 O43174 CP26A_HUMAN Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA. 138 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) CGCAAGAAGGTGGGGGCAGGA 0.647000 176 75 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47879795 47879795 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:47879795C>T uc010xyn.2 + 11 2926 c.2577C>T c.(2575-2577)gcC>gcT p.A859A DHX34_uc010xyo.1_5'Flank NM_014681 NP_055496 Q14147 DHX34_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA. 859 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) AGCTGGAGGCCAGCAACTGCG 0.672000 4 4 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4418031 4418031 + Silent SNP C T T rs143106881 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:4418031C>T uc002mal.3 + 3 1075 c.975C>T c.(973-975)ttC>ttT p.F325F NM_005483 NP_005474 Q13111 CAF1A_HUMAN Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA. 325 Arg/Glu/Lys-rich. DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CTAAGAAATTCGTCAAAGGCT 0.348000 Chromatin Structure 48 30 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22804576 22804576 + Missense_Mutation SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr21:22804576A>C uc002yld.2 + 11 1878 c.1629A>C c.(1627-1629)aaA>aaC p.K543N NCAM2_uc011acb.2_Missense_Mutation_p.K401N NM_004540 NP_004531 O15394 NCAM2_HUMAN Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA. 543 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AAATCTGGAAAATTGTACGCT 0.428000 31 6 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231671 7231671 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr18:7231671C>T uc010wzk.2 + 0 535 c.535C>T c.(535-537)Ccc>Tcc p.P179S NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA. 179 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 CGCGCACATCCCCATGTGTGT 0.557000 46 77 0 0 1 0 0 GPR63 81491 broad.mit.edu 37 6 97247435 97247435 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:97247435G>A uc010kcl.3 - 2 651 c.173C>T c.(172-174)tCc>tTc p.S58F GPR63_uc003pou.3_Missense_Mutation_p.S58F|GPR63_uc021zcy.1_Missense_Mutation_p.S58F NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA. 58 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) CACGGTCAAGGAACTCAAACC 0.438000 30 46 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55175844 55175844 + Missense_Mutation SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:55175844T>C uc002qgp.3 + 3 925 c.563T>C c.(562-564)gTg>gCg p.V188A LILRB4_uc002qgq.3_Missense_Mutation_p.V188A|LILRB4_uc010ers.1_Missense_Mutation_p.V101A|LILRB4_uc010ert.3_Missense_Mutation_p.V229A|LILRB4_uc010eru.3_Missense_Mutation_p.V217A NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 188 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GTGACCTCAGTGCACGGGGGG 0.602000 135 34 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240549 39240549 + Missense_Mutation SNP C G G rs151117992 by1000genomes TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:39240549C>G uc010wfn.2 + 0 91 c.91C>G c.(91-93)Cag>Gag p.Q31E NM_033061 NP_149050 Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA. NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 CAGCTGCTGTCAGACCACCTG 0.632000 58 4 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138921784 138921784 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:138921784G>A uc011kqr.2 + 1 502 c.502G>A c.(502-504)Gat>Aat p.D168N NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN Homo sapiens ubinuclein 2 (UBN2), mRNA. 168 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 CCCATTTAATGATGAACATCA 0.323000 145 25 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56026099 56026099 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:56026099G>A uc021wzo.1 - 9 2381 c.2241C>T c.(2239-2241)atC>atT p.I747I ERC2_uc003dhr.1_Silent_p.I747I|ERC2_uc003dht.1_Silent_p.I230I NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 747 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CCAGTTCTGCGATCTTCTTGT 0.498000 123 31 0 0 1 0 0 ZC4H2 55906 broad.mit.edu 37 X 64139075 64139075 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:64139075C>T uc004dvu.3 - 3 564 c.408G>A c.(406-408)gaG>gaA p.E136E ZC4H2_uc004dvv.3_Silent_p.E113E|ZC4H2_uc022byd.1_Silent_p.E113E|ZC4H2_uc022byc.1_Silent_p.E113E|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Silent_p.E113E|ZC4H2_uc004dvw.2_3'UTR NM_018684 NP_001230733 Q9NQZ6 ZC4H2_HUMAN Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA. 136 metal ion binding|protein binding p.E136K(1) endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 CTTTCTGCTTCTCAAAGTAAC 0.532000 25 31 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96051635 96051636 + Missense_Mutation DNP GG AA AA TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:96051635_96051636GG>AA uc004ati.1 + 19 4710_4711 c.4710_4711GG>AA c.(4708-4713)tcggat>tcAAat p.D1571N WNK2_uc011lud.1_Missense_Mutation_p.D1534N|WNK2_uc004atj.3_Missense_Mutation_p.D1534N|WNK2_uc004atk.3_Missense_Mutation_p.D1171N|WNK2_uc004atl.1_Missense_Mutation_p.D129N NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1571 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCCTGGAGTCGGATGGGGAAGG 0.703000 37 5 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23520188 23520188 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:23520188G>A uc001bgn.3 - 0 1035 c.525C>T c.(523-525)ttC>ttT p.F175F NM_000864 NP_000855 P28221 5HT1D_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA. 175 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) CCTGCCGCCAGAAGAGCGGGG 0.592000 60 19 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68642977 68642977 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:68642977C>T uc010bib.3 - 8 1125 c.1038G>A c.(1036-1038)ggG>ggA p.G346G ITGA11_uc002ari.3_Silent_p.G346G NM_001004439 NP_001004439 Q9UKX5 ITA11_HUMAN Homo sapiens integrin, alpha 11 (ITGA11), mRNA. 346 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) AGATTCTGTCCCCCAGGGCAT 0.483000 48 22 0 0 1 0 0 PVRL1 5818 broad.mit.edu 37 11 119549160 119549160 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:119549160C>T uc001pwv.3 - 1 567 c.395G>A c.(394-396)gGc>gAc p.G132D PVRL1_uc001pwu.1_Missense_Mutation_p.G132D|PVRL1_uc001pww.3_Missense_Mutation_p.G132D NM_002855 NP_002846 Q15223 PVRL1_HUMAN Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA. 132 Ig-like V-type. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) TTCTCGATTGCCCGTAGGGAA 0.617000 71 29 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143065 55143065 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:55143065G>A uc002qgj.3 + 4 525 c.185G>A c.(184-186)aGa>aAa p.R62K LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.R62K|LILRB1_uc002qgk.3_Missense_Mutation_p.R62K|LILRB1_uc002qgm.3_Missense_Mutation_p.R62K|LILRB1_uc010erq.3_Missense_Mutation_p.R62K|LILRB1_uc010err.3_Non-coding_Transcript NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA. 62 Ig-like C2-type 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.Y61H(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CGTCTATATAGAGAAAAGAAA 0.582000 HNSCC(37;0.09) 97 84 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106877714 106877714 + RNA SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:106877714G>A uc021ser.1 - 409 c.13211C>T Parts of antibodies, mostly variable regions. ATGGTGACTCGACTCTTGAGG 0.567000 90 44 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 107136895 107136895 + Splice_Site SNP C T T rs113570764 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:107136895C>T uc021ser.1 - 70 c.3314_splice c.e70+1 Parts of antibodies, mostly variable regions. TTCATCTCATCCCCAGACTGC 0.567000 61 12 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7168070 7168070 + Missense_Mutation SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:7168070T>C uc002mgd.1 - 6 1628 c.1519A>G c.(1519-1521)Aca>Gca p.T507A INSR_uc002mge.1_Missense_Mutation_p.T507A|INSR_uc002mgf.3_Missense_Mutation_p.T507A NM_000208 NP_000199 P06213 INSR_HUMAN Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA. 507 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCAAAAGATGTCCGAATGTAA 0.433000 54 15 0 0 1 0 0 KIAA0226 9711 broad.mit.edu 37 3 197409405 197409405 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:197409405G>A uc003fyc.2 - 13 2245 c.2062C>T c.(2062-2064)Cgt>Tgt p.R688C KIAA0226_uc003fyd.3_Missense_Mutation_p.R643C|KIAA0226_uc003fye.1_Missense_Mutation_p.R420C NM_014687 NP_055502 Q92622 RUBIC_HUMAN Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA. 688 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) AAGTTGCCACGAACACGAATC 0.577000 45 31 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr13:115047559C>T uc001vup.3 + 1 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_uc010tkn.2_Silent_p.L91L|UPF3A_uc001vuq.3_Silent_p.L91L|UPF3A_uc001vur.3_Non-coding_Transcript NM_023011 NP_075387 Q9H1J1 REN3A_HUMAN Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA. 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding p.L91L(16) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 6 3 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126238098 126238098 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:126238098C>T uc003ifj.4 + 0 532 c.532C>T c.(532-534)Cgc>Tgc p.R178C NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 178 Cadherin 2. 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 CCGCATCATCCGCGGCAATGA 0.632000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 12 0 0 1 0 0 B4GALT3 8703 broad.mit.edu 37 1 161144929 161144929 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:161144929G>A uc001fys.2 - 3 999 c.343C>T c.(343-345)Cgc>Tgc p.R115C PPOX_uc001fyi.2_Intron|PPOX_uc010pkh.1_Intron|B4GALT3_uc001fyr.2_Missense_Mutation_p.R115C|B4GALT3_uc001fyq.2_Missense_Mutation_p.R115C|B4GALT3_uc001fyp.1_Non-coding_Transcript|B4GALT3_uc009wud.2_Missense_Mutation_p.R115C NM_001199874 NP_001186803 O60512 B4GT3_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 (B4GALT3), transcript variant 3, mRNA. 115 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) CCTGCAGGGCGGTACCGGCCC 0.637000 107 125 0 0 1 0 0 NUAK1 9891 broad.mit.edu 37 12 106500199 106500199 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:106500199G>A uc001tlj.1 - 1 1725 c.345C>T c.(343-345)atC>atT p.I115I NM_014840 NP_055655 O60285 NUAK1_HUMAN Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA. 115 Protein kinase. 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 AAATACTGATGATATGAGGAT 0.368000 30 7 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144945812 144945812 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:144945812G>A uc003zaa.1 - 0 1623 c.1610C>T c.(1609-1611)tCc>tTc p.S537F NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 537 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CTTCTCCACGGAGAGGGTCCC 0.662000 18 3 0 0 1 0 0 SOWAHC 65124 broad.mit.edu 37 2 110372897 110372897 + Missense_Mutation SNP T A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:110372897T>A uc002tfb.3 + 0 987 c.831T>A c.(829-831)gaT>gaA p.D277E SEPT10_uc010ywu.1_5'Flank|SEPT10_uc002tew.3_5'Flank|SEPT10_uc002tex.3_5'Flank|SEPT10_uc002tey.3_5'Flank|SEPT10_uc010ywv.2_5'Flank NM_023016 NP_075392 Q53LP3 ANR57_HUMAN Homo sapiens sosondowah ankyrin repeat domain family member C (SOWAHC), mRNA. 277 CTGCCTCCGATGGCAAGTGGG 0.687000 25 11 0 0 1 0 0 OR6C1 390321 broad.mit.edu 37 12 55715094 55715094 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:55715094C>T uc010spi.2 + 0 711 c.711C>T c.(709-711)tcC>tcT p.S237S NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA. 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 25 AGGCCTTTTCCACATGTTCTT 0.383000 21 22 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127782225 127782225 + Missense_Mutation SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:127782225A>C uc003kuu.3 - 6 1340 c.901T>G c.(901-903)Tgc>Ggc p.C301G FBN2_uc003kuv.2_Missense_Mutation_p.C268G|FBN2_uc003kuw.4_Missense_Mutation_p.C301G NM_001999 NP_001990 P35556 FBN2_HUMAN Homo sapiens fibrillin 2 (FBN2), mRNA. 301 EGF-like 4; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GGGCATCTGCATTCAAAAGAG 0.428000 52 22 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40901313 40901313 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:40901313C>T uc002onr.3 - 6 3215 c.2946G>A c.(2944-2946)gaG>gaA p.E982E PRX_uc002onq.3_Silent_p.E843E|PRX_uc002ons.3_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN Homo sapiens periaxin (PRX), transcript variant 2, mRNA. 982 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCAGGCCTGCCTCCCCAGCCC 0.647000 103 38 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31625971 31625971 + Missense_Mutation SNP C G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:31625971C>G uc002rnv.1 - 2 219 c.140G>C c.(139-141)gGc>gCc p.G47A NM_000379 NP_000370 P47989 XDH_HUMAN Homo sapiens xanthine dehydrogenase (XDH), mRNA. 47 2Fe-2S ferredoxin-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) AGCCCCGCAGCCCCCCTCTCC 0.577000 136 23 0 0 1 0 0 CDH16 1014 broad.mit.edu 37 16 66951562 66951562 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:66951562G>A uc002eql.3 - 2 306 c.112C>T c.(112-114)Cct>Tct p.P38S CDH16_uc010cdy.3_Missense_Mutation_p.P38S|CDH16_uc021tjx.1_Missense_Mutation_p.P38S|CDH16_uc002eqm.3_Missense_Mutation_p.P38S NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 38 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) AGGTATAAAGGGAAATTTCCA 0.582000 11 8 0 0 1 0 0 KIAA1524 57650 broad.mit.edu 37 3 108282084 108282084 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:108282084C>T uc003dxb.4 - 12 1792 c.1523G>A c.(1522-1524)cGt>cAt p.R508H KIAA1524_uc010hpv.1_Missense_Mutation_p.R75H NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN Homo sapiens KIAA1524 (KIAA1524), mRNA. 508 cytoplasm|integral to membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGTAATCAAACGTGGGTCCTA 0.358000 156 86 0 0 1 0 0 GPR116 221395 broad.mit.edu 37 6 46851970 46851970 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:46851970C>T uc003oyo.3 - 4 656 c.367G>A c.(367-369)Gag>Aag p.E123K GPR116_uc003oyp.3_Missense_Mutation_p.E123K|GPR116_uc003oyq.3_Missense_Mutation_p.E123K|GPR116_uc003oyr.2_Missense_Mutation_p.E123K NM_001098518 NP_056049 Q8IZF2 GP116_HUMAN Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA. 123 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) TAACCTGTCTCGCAGGAGCAC 0.488000 56 18 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140175678 140175678 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:140175678C>T uc003lhd.2 + 0 1235 c.1129C>T c.(1129-1131)Cgc>Tgc p.R377C PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.R377C|PCDHAC2_uc011czy.2_Missense_Mutation_p.R377C NM_018905 NP_061728 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA. 392 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGTCGGATCGCGACTCTGG 0.522000 85 41 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38953653 38953653 + Silent SNP A G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:38953653A>G uc003jlo.2 - 27 2722 c.2700T>C c.(2698-2700)aaT>aaC p.N900N RICTOR_uc003jlp.2_Silent_p.N900N|RICTOR_uc010ivf.2_Silent_p.N615N NM_152756 NP_689969 Q6R327 RICTR_HUMAN Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA. 900 T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade TORC2 complex|cytosol protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) CTGTAATAATATTCTGGAGAA 0.279000 125 35 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179434096 179434096 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:179434096C>T uc021vsy.1 - 274 69284 c.69059G>A c.(69058-69060)gGa>gAa p.G23020E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G16715E|TTN_uc021vta.1_Missense_Mutation_p.G16648E|TTN_uc021vtb.1_Missense_Mutation_p.G16523E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 23947 Fibronectin type-III 67. 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) AGACTTTGTTCCACTGCTGTT 0.398000 137 52 0 0 1 0 0 ZNF814 730051 broad.mit.edu 37 19 58384854 58384854 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:58384854C>T uc002qqo.2 - 2 2176 c.1904G>A c.(1903-1905)gGa>gAa p.G635E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN Homo sapiens zinc finger protein 814 (ZNF814), mRNA. 635 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 CCCACAGTCTCCACACTTGTA 0.438000 69 4 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146471421 146471421 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:146471421C>T uc003weu.2 + 1 672 c.156C>T c.(154-156)tcC>tcT p.S52S NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 52 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GCAGCTCCTCCTCCATCTCTG 0.428000 HNSCC(39;0.1) 31 26 0 0 1 0 0 ZNF175 7728 broad.mit.edu 37 19 52090126 52090126 + Missense_Mutation SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:52090126T>G uc002pxb.3 + 4 920 c.542T>G c.(541-543)aTg>aGg p.M181R NM_007147 NP_009078 Q9Y473 ZN175_HUMAN Homo sapiens zinc finger protein 175 (ZNF175), mRNA. 181 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) CCTGGGAAAATGATTCGCACG 0.408000 91 23 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585866 7585866 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:7585866C>T uc003mxp.1 + 23 8650 c.8371C>T c.(8371-8373)Cgc>Tgc p.R2791C DSP_uc003mxq.1_Missense_Mutation_p.R2192C|DSP_uc021yle.1_Missense_Mutation_p.R2348C NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2791 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) TGCCATAAATCGCTCCATGGT 0.542000 268 168 0 0 1 0 0 PLXNB2 23654 broad.mit.edu 37 22 50722577 50722577 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr22:50722577G>A uc003bkv.4 - 12 2340 c.2247C>T c.(2245-2247)atC>atT p.I749I PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 749 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCTTGCTGTCGATATTCTTGC 0.682000 37 61 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45394012 45394012 + Missense_Mutation SNP C T T rs143124929 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:45394012C>T uc001zun.3 - 20 3033 c.2830G>A c.(2830-2832)Ggt>Agt p.G944S DUOX2_uc010bea.3_Missense_Mutation_p.G944S NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 944 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCACCTCCACCTTTGACACAG 0.582000 31 20 0 0 1 0 0 FAM129A 116496 broad.mit.edu 37 1 184767251 184767251 + Missense_Mutation SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:184767251T>G uc001gra.3 - 12 1822 c.1628A>C c.(1627-1629)gAg>gCg p.E543A FAM129A_uc001grb.1_Missense_Mutation_p.E306A NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA. 543 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 45 ATGTAAAATCTCCTCATAGAC 0.418000 22 19 0 0 1 0 0 MMP10 4319 broad.mit.edu 37 11 102650393 102650393 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:102650393G>A uc001phg.2 - 1 226 c.189C>T c.(187-189)atC>atT p.I63I NM_002425 NP_002416 P09238 MMP10_HUMAN Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA. 63 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6) 22 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) GCATTCCTTGGATTTTTTTAA 0.428000 18 10 0 0 1 0 0 SLC25A51P1 442229 broad.mit.edu 37 6 66498764 66498764 + RNA SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:66498764G>A uc011dxw.2 + 0 c.993G>A Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA. CATCATGACAGATTTACCAAC 0.463000 35 34 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130847658 130847658 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:130847658G>A uc001uik.3 + 17 2435 c.2164G>A c.(2164-2166)Gat>Aat p.D722N PIWIL1_uc001uij.2_Missense_Mutation_p.D722N NM_004764 NP_004755 Q96J94 PIWL1_HUMAN Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA. 722 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development P granule|chromatoid body mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ACAGTTTTTGGATTGTCTAAA 0.423000 80 17 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13672316 13672316 + Splice_Site SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:13672316G>A uc011avc.2 + 15 3467 c.3085_splice c.e15+1 p.D1029_splice FBLN2_uc011auz.2_Splice_Site_p.D1008_splice|FBLN2_uc011avb.2_Splice_Site_p.D982_splice|FBLN2_uc011ava.2_Splice_Site_p.D1029_splice NM_001165035 NP_001158507 P98095 FBLN2_HUMAN Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA. 1025 EGF-like 10; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) ACCTGCACAGGTACCTCTCCC 0.627000 4 5 0 0 1 0 0 CATSPERB 79820 broad.mit.edu 37 14 92088198 92088198 + Missense_Mutation SNP A T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:92088198A>T uc001xzs.1 - 18 2154 c.2014T>A c.(2014-2016)Tta>Ata p.L672I CATSPERB_uc010aub.1_Missense_Mutation_p.L194I NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 672 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) TTATTATCTAAAATGCTTGTG 0.408000 30 24 0 0 1 0 0 DDX19B 11269 broad.mit.edu 37 16 70363264 70363264 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:70363264C>T uc002eyo.3 + 7 806 c.677C>T c.(676-678)tCc>tTc p.S226F DDX19B_uc002eys.3_Intron|DDX19B_uc010vlv.2_Missense_Mutation_p.S200F|DDX19B_uc010vlw.2_Missense_Mutation_p.S117F|DDX19B_uc002eyp.3_Missense_Mutation_p.S195F|DDX19B_uc002eyq.3_Missense_Mutation_p.S117F|DDX19B_uc010vlx.2_Missense_Mutation_p.S75F|LOC100506083_uc002eyt.3_Intron NM_007242 NP_001014449 Q9UMR2 DD19B_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA. 226 Helicase ATP-binding. mRNA export from nucleus|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|RNA binding|protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1) 9 Ovarian(137;0.0694) GACTGGTGCTCCAAGCTCAAG 0.507000 26 39 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66431926 66431926 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:66431926G>A uc002eom.4 + 8 1558 c.1402G>A c.(1402-1404)Gaa>Aaa p.E468K NM_001795 NP_001786 P33151 CADH5_HUMAN Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA. 468 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) AGTCCACATTGAAGTTTTGGA 0.542000 140 50 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13817760 13817760 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:13817760C>T uc003jfd.2 - 41 6927 c.6885G>A c.(6883-6885)gcG>gcA p.A2295A NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2295 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGGCAGTAATCGCTTTGGGAT 0.418000 Kartagener syndrome 44 42 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118502657 118502657 + Nonsense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:118502657C>T uc001ptr.2 + 8 2481 c.2128C>T c.(2128-2130)Cag>Tag p.Q710* PHLDB1_uc001pts.3_Nonsense_Mutation_p.Q710*|PHLDB1_uc001ptt.3_Nonsense_Mutation_p.Q710*|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Nonsense_Mutation_p.Q510*|PHLDB1_uc001ptw.2_Nonsense_Mutation_p.Q112*|PHLDB1_uc009zai.2_5'UTR|PHLDB1_uc001ptx.2_5'UTR NM_015157 NP_055972 Q86UU1 PHLB1_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA. 710 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CACCAAGCTCCAGGGAGAGGT 0.567000 126 4 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68260384 68260384 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:68260384G>A uc001xka.2 - 13 2633 c.2494C>T c.(2494-2496)Cca>Tca p.P832S ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P832S NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA. 832 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GACTCAGGTGGGGAGAACATC 0.557000 44 21 0 0 1 0 0 TECPR2 9895 broad.mit.edu 37 14 102900832 102900832 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:102900832C>T uc001ylw.2 + 8 1904 c.1678C>T c.(1678-1680)Ctg>Ttg p.L560L TECPR2_uc010awl.3_Silent_p.L560L|TECPR2_uc010txx.2_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA. 560 protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 50 GCCTGATTCTCTGGCTGAGGA 0.512000 42 29 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10567375 10567375 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:10567375C>T uc002czw.3 + 7 1625 c.1466C>T c.(1465-1467)cCc>cTc p.P489L ATF7IP2_uc010uyp.2_Missense_Mutation_p.P33L|ATF7IP2_uc002czu.3_Missense_Mutation_p.P489L|ATF7IP2_uc002czv.3_Missense_Mutation_p.P489L|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript NM_024997 NP_079273 Q5U623 MCAF2_HUMAN Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA. 489 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 AGCAATTCTCCCAATGCTGAA 0.284000 67 17 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346683 48346683 + Missense_Mutation SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:48346683T>C uc010rhv.2 + 0 191 c.191T>C c.(190-192)gTt>gCt p.V64A NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA. 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 GTGGTCACGGTTTGTGGCAAC 0.463000 79 5 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185339635 185339635 + Missense_Mutation SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:185339635T>G uc003fpn.3 + 13 1639 c.1468T>G c.(1468-1470)Tgt>Ggt p.C490G SENP2_uc011brv.2_Missense_Mutation_p.C480G|SENP2_uc011brw.2_Missense_Mutation_p.C303G NM_021627 NP_067640 Q9HC62 SENP2_HUMAN Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA. 490 Protease. Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport cytoplasm|nuclear membrane|nuclear pore SUMO-specific protease activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) AAGAAAAAAGTGTCTTAAATA 0.363000 36 8 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71318539 71318539 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:71318539C>T uc001dfk.1 - 3 1339 c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K PTGER3_uc001dfg.1_3'UTR|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Missense_Mutation_p.E361K NM_198716 NP_942009 P43115 PE2R3_HUMAN Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA. 0 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) CCCCAAAATTCCTCCTGGAAA 0.323000 146 42 0 0 1 0 0 LRRC6 23639 broad.mit.edu 37 8 133673812 133673812 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:133673812C>T uc003ytk.3 - 1 146 c.72G>A c.(70-72)gaG>gaA p.E24E LRRC6_uc022bbp.1_Silent_p.E24E|LRRC6_uc003ytl.3_Non-coding_Transcript NM_012472 NP_036604 Q86X45 LRRC6_HUMAN Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA. 24 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ACGAGAGTTCCTCCAGGGAAA 0.368000 35 8 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121980615 121980615 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:121980615C>A uc003eew.4 + 3 1171 c.733C>A c.(733-735)Cag>Aag p.Q245K CASR_uc003eev.4_Missense_Mutation_p.Q245K NM_001178065 NP_001171536 P41180 CASR_HUMAN Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA. 245 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.Q245Q(1)|p.S244S(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ACTCATCTCCCAGTACTCTGA 0.502000 331 69 4.37588e-27 4.69208e-27 1 1 0 SLC27A3 11000 broad.mit.edu 37 1 153749147 153749147 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:153749147C>T uc001fcz.3 + 1 1027 c.962C>T c.(961-963)tCt>tTt p.S321F SLC27A3_uc009won.3_Non-coding_Transcript NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA. 321 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGATACCTCTCTTCCCCCCAG 0.597000 72 37 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48146655 48146655 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:48146655C>T uc001ngp.4 + 5 1365 c.1010C>T c.(1009-1011)cCt>cTt p.P337L PTPRJ_uc001ngo.4_Missense_Mutation_p.P337L NM_002843 NP_002834 Q12913 PTPRJ_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA. 337 Fibronectin type-III 3. contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GGGTTAGAGCCTGGCACCCGA 0.582000 99 32 0 0 1 0 0 MLL 4297 broad.mit.edu 37 11 118375064 118375064 + Silent SNP C T T rs142499035 byFrequency TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:118375064C>T uc001pta.3 + 26 8471 c.8448C>T c.(8446-8448)tcC>tcT p.S2816S MLL_uc001ptb.3_Silent_p.S2819S NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 2816 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GTACCCCCTCCGACAAAAATT 0.448000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 90 33 0 0 1 0 0 FBLIM1 54751 broad.mit.edu 37 1 16091674 16091674 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:16091674C>T uc001axd.1 + 3 639 c.196C>T c.(196-198)Cct>Tct p.P66S FBLIM1_uc001axe.1_Missense_Mutation_p.P66S|FBLIM1_uc001axg.1_Missense_Mutation_p.P66S|FBLIM1_uc001axh.1_Missense_Mutation_p.P66S|FBLIM1_uc001axi.1_Missense_Mutation_p.P66S NM_017556 NP_060026 Q8WUP2 FBLI1_HUMAN Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA. 66 Filamin-binding.|Pro-rich. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 16 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) CTGGACAACCCCTGGCAGAGC 0.667000 48 14 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86394877 86394877 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:86394877C>A uc003uid.3 + 1 1515 c.416C>A c.(415-417)cCa>cAa p.P139Q GRM3_uc010lef.3_Missense_Mutation_p.P137Q|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 139 synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GAAAACATCCCACTTCTCATT 0.423000 102 20 3.99206e-14 4.17351e-14 1 1 0 PTPRT 11122 broad.mit.edu 37 20 41408878 41408878 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:41408878C>A uc002xkg.3 - 3 732 c.548G>T c.(547-549)cGg>cTg p.R183L PTPRT_uc010ggj.3_Missense_Mutation_p.R183L NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 183 MAM. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGCAAGGACCCGGACCTCGTC 0.522000 148 23 2.48779e-11 2.57165e-11 1 1 0 USP34 9736 broad.mit.edu 37 2 61468711 61468711 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:61468711G>A uc002sbe.3 - 52 6783 c.6761C>T c.(6760-6762)tCg>tTg p.S2254L USP34_uc002sbf.3_Missense_Mutation_p.S404L NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 2254 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) TAACTCTGACGAAACATCAAA 0.328000 11 18 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50119027 50119027 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:50119027C>T uc002poo.4 + 8 5048 c.5048C>T c.(5047-5049)cCc>cTc p.P1683L NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN Homo sapiens proline rich 12 (PRR12), mRNA. 862 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GCCAAGAACCCCGTATCTGCT 0.592000 15 6 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121207090 121207090 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:121207090G>A uc003eee.4 - 15 4817 c.4688C>T c.(4687-4689)tCt>tTt p.S1563F POLQ_uc003eed.3_Missense_Mutation_p.S735F NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 1563 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CATCTGAACAGAATCCATTTC 0.343000 DNA polymerases (catalytic subunits) 80 24 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14508057 14508057 + Silent SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:14508057T>G uc003jff.3 + 56 8826 c.8820T>G c.(8818-8820)gcT>gcG p.A2940A TRIO_uc003jfg.3_Non-coding_Transcript NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 2940 Protein kinase. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TTGGAGATGCTGTTCAGCTCA 0.498000 54 9 0 0 1 0 0 ZBTB39 9880 broad.mit.edu 37 12 57398251 57398251 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:57398251C>T uc001sml.2 - 1 604 c.451G>A c.(451-453)Gaa>Aaa p.E151K ZBTB39_uc021qzg.1_Missense_Mutation_p.E151K NM_014830 NP_055645 O15060 ZBT39_HUMAN Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA. 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1) 16 TGGGCAGGTTCTGCCGAAGGA 0.562000 132 28 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322290 55322290 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:55322290G>A uc010rig.2 + 0 508 c.508G>A c.(508-510)Gcc>Acc p.A170T NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA. 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TGTCCTCACAGCCATGGCCTA 0.493000 HNSCC(20;0.049) 71 30 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178411872 178411872 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:178411872C>T uc001glq.3 + 7 1754 c.990C>T c.(988-990)gcC>gcT p.A330A RASAL2_uc001glr.3_Silent_p.A182A NM_170692 NP_733793 Q9UJF2 NGAP_HUMAN Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA. 182 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 AGGACCTTGCCCCTAAAAAGA 0.428000 66 52 0 0 1 0 0 NFATC2 4773 broad.mit.edu 37 20 50048763 50048763 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:50048763G>A uc002xwd.3 - 8 2783 c.2563C>T c.(2563-2565)Ctg>Ttg p.L855L NFATC2_uc002xwc.3_Silent_p.L855L|NFATC2_uc010zyv.2_Silent_p.L636L|NFATC2_uc010zyw.2_Silent_p.L636L|NFATC2_uc002xwe.3_Silent_p.L835L|NFATC2_uc010zyx.2_Silent_p.L835L|NFATC2_uc010zyy.2_Silent_p.L636L|NFATC2_uc010zyz.2_Silent_p.L636L NM_173091 NP_775114 Q13469 NFAC2_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA. 855 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CCCGGGCTCAGCCTCTGACCT 0.592000 130 48 0 0 1 0 0 ERBB2 2064 broad.mit.edu 37 17 37882009 37882009 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:37882009G>A uc002hso.3 + 22 3013 c.2775G>A c.(2773-2775)ggG>ggA p.G925G ERBB2_uc010cwa.3_Silent_p.G910G|ERBB2_uc002hsm.3_Silent_p.G895G|ERBB2_uc002hsp.3_Silent_p.G728G|ERBB2_uc010cwb.3_Silent_p.G925G|ERBB2_uc010wek.2_Silent_p.G649G|MIR4728_uc021twt.1_5'Flank NM_004448 NP_001005862 P04626 ERBB2_HUMAN Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA. 925 Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTTACGATGGGATCCCAGCCC 0.577000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 28 29 0 0 1 0 0 HDAC6 10013 broad.mit.edu 37 X 48675031 48675031 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:48675031C>T uc011mmi.1 + 18 1877 c.1782C>T c.(1780-1782)ctC>ctT p.L594L HDAC6_uc004dks.1_Silent_p.L594L|HDAC6_uc010nig.1_Silent_p.L442L|HDAC6_uc004dkt.1_Silent_p.L594L|HDAC6_uc011mmk.1_Silent_p.L575L|HDAC6_uc004dkv.1_Silent_p.L242L|HDAC6_uc004dkw.1_Silent_p.L242L|HDAC6_uc004dkx.1_5'Flank NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN Homo sapiens histone deacetylase 6 (HDAC6), mRNA. 594 Histone deacetylase 2. Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 Vorinostat(DB02546) AGGCTGTGCTCTCAGGAGAGG 0.582000 8 21 0 0 1 0 0 XPOT 11260 broad.mit.edu 37 12 64827280 64827280 + Missense_Mutation SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:64827280T>G uc001ssb.3 + 18 2855 c.2349T>G c.(2347-2349)aaT>aaG p.N783K NM_007235 NP_009166 O43592 XPOT_HUMAN Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA. 783 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(28;0.0404) CAGAAGAAAATGACCAGTCTG 0.453000 158 38 0 0 1 0 0 MGLL 11343 broad.mit.edu 37 3 127429458 127429458 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:127429458C>T uc003ejx.3 - 5 676 c.531G>A c.(529-531)ggG>ggA p.G177G MGLL_uc003ejw.3_Silent_p.G187G|MGLL_uc011bko.2_Intron|MGLL_uc003ejv.3_Silent_p.G151G NM_001003794 NP_001003794 Q99685 MGLL_HUMAN Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA. 177 arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process plasma membrane acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 6 AGTCGATGGGCCCGAGGGACA 0.592000 6 3 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57564120 57564120 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:57564120G>A uc001nmc.4 + 5 1183 c.612G>A c.(610-612)agG>agA p.R204R CTNND1_uc001nlf.2_Silent_p.R204R|CTNND1_uc021qjk.1_Silent_p.R204R|CTNND1_uc001nlh.1_Silent_p.R204R|CTNND1_uc001nlj.4_Silent_p.R150R|CTNND1_uc001nlq.4_Silent_p.R103R|CTNND1_uc001nlr.4_Silent_p.R150R|CTNND1_uc001nln.4_Silent_p.R204R|CTNND1_uc001nli.4_Silent_p.R204R|CTNND1_uc001nlo.4_Silent_p.R103R|CTNND1_uc001nlp.4_Silent_p.R150R|CTNND1_uc001nlu.4_Silent_p.R103R|CTNND1_uc001nlt.4_Silent_p.R103R|CTNND1_uc001nlv.4_Silent_p.R103R|CTNND1_uc001nls.4_Silent_p.R103R|CTNND1_uc001nlw.4_Silent_p.R103R|CTNND1_uc001nmf.4_Silent_p.R204R|CTNND1_uc001nlx.4_Intron|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Intron|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_Silent_p.R150R|CTNND1_uc001nlk.4_Silent_p.R150R|CTNND1_uc001nme.4_Silent_p.R204R|CTNND1_uc001nll.4_Silent_p.R150R|CTNND1_uc001nlm.4_Silent_p.R204R|CTNND1_uc001nmi.4_Silent_p.R103R|CTNND1_uc001nmg.4_Silent_p.R150R|CTNND1_uc001nmh.4_Silent_p.R204R NM_001085458 NP_001078932 O60716 CTND1_HUMAN Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA. 204 Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) CCCTTCCTAGGAACTTCCACT 0.522000 176 77 0 0 1 0 0 DPF2 5977 broad.mit.edu 37 11 65108530 65108530 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:65108530C>T uc001odm.3 + 2 420 c.287C>T c.(286-288)cCa>cTa p.P96L DPF2_uc010roe.2_Missense_Mutation_p.P96L NM_006268 NP_006259 Q92785 REQU_HUMAN Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA. 96 apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleus nucleic acid binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1) 23 CTTTCCTTCCCATCTATTAAG 0.582000 31 10 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13786455 13786455 + Missense_Mutation SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:13786455T>C uc003jfd.2 - 51 8695 c.8653A>G c.(8653-8655)Aca>Gca p.T2885A NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2885 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTTCAGATGTTTCACCTTTG 0.353000 Kartagener syndrome 35 8 0 0 1 0 0 SLC17A8 246213 broad.mit.edu 37 12 100813813 100813813 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:100813813G>A uc010svi.2 + 11 1959 c.1646G>A c.(1645-1647)gGa>gAa p.G549E SLC17A8_uc009ztx.3_Missense_Mutation_p.G499E NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA. 549 neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 44 ATGTCTTATGGAGCCACCTCC 0.463000 30 17 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54925303 54925303 + Missense_Mutation SNP T A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:54925303T>A uc001sgc.4 + 23 2712 c.2633T>A c.(2632-2634)cTt>cAt p.L878H NCKAP1L_uc010sox.2_Missense_Mutation_p.L420H|NCKAP1L_uc010soy.2_Missense_Mutation_p.L828H NM_005337 NP_005328 P55160 NCKPL_HUMAN Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA. 878 B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug SCAR complex|cytosol|integral to plasma membrane|membrane fraction Rac GTPase activator activity|protein complex binding|protein kinase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 ATGGACATACTTGTTCAGATC 0.493000 103 80 0 0 1 0 0 ARHGEF37 389337 broad.mit.edu 37 5 149006709 149006709 + Missense_Mutation SNP A T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:149006709A>T uc003lra.1 + 10 1599 c.1535A>T c.(1534-1536)cAg>cTg p.Q512L NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA. 512 SH3 1. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3) 17 AAGCTGTACCAGGTGACAAGC 0.587000 170 4 0 0 1 0 0 SLFN12 55106 broad.mit.edu 37 17 33738920 33738920 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:33738920G>A uc002hji.4 - 3 1551 c.1174C>T c.(1174-1176)Cca>Tca p.P392S SLFN12_uc002hjj.4_Missense_Mutation_p.P392S|SLFN12_uc010cts.3_Missense_Mutation_p.P392S NM_018042 NP_060512 Q8IYM2 SLN12_HUMAN Homo sapiens schlafen family member 12 (SLFN12), mRNA. 392 ATP binding breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 18 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AGGTTTTCTGGAGTATACGTT 0.358000 70 24 0 0 1 0 0 OR2C1 4993 broad.mit.edu 37 16 3406348 3406348 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:3406348G>A uc002cuw.1 + 0 460 c.408G>A c.(406-408)atG>atA p.M136I NM_012368 NP_036500 O95371 OR2C1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA. 136 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 CCGCCATCATGAACCCCCAGC 0.607000 37 15 0 0 1 0 0 NPPA 4878 broad.mit.edu 37 1 11907408 11907408 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:11907408C>T uc001ati.3 - 1 311 c.212G>A c.(211-213)gGg>gAg p.G71E CLCN6_uc010oba.1_Intron|CLCN6_uc010oav.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oaz.1_Intron NM_006172 NP_006163 P01160 ANF_HUMAN Homo sapiens natriuretic peptide A (NPPA), mRNA. 71 cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size extracellular region hormone activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GAGAGCAGCCCCCGCTTCTTC 0.602000 58 16 0 0 1 0 0 MFSD12 126321 broad.mit.edu 37 19 3542860 3542860 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:3542860G>A uc002lxw.3 - 9 1706 c.1536C>T c.(1534-1536)ccC>ccT p.P512P MFSD12_uc002lxx.3_Intron|MFSD12_uc010dtl.1_5'Flank|C19orf71_uc010xhm.2_Intron NM_021731 NP_068377 Q6NUT3 CS028_HUMAN Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA. 0 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 TCCAGGCCAGGGGGGCTTCCC 0.632000 70 7 0 0 1 0 0 NUAK2 81788 broad.mit.edu 37 1 205290681 205290681 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:205290681C>T uc001hce.3 - 0 203 c.76G>A c.(76-78)Ggg>Agg p.G26R NM_030952 NP_112214 Q9H093 NUAK2_HUMAN Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA. 26 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) TTGATCAGCCCTTCCGCCAGC 0.672000 60 13 0 0 1 0 0 GAS2L2 246176 broad.mit.edu 37 17 34072073 34072073 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:34072073G>A uc002hjv.2 - 5 2471 c.2443C>T c.(2443-2445)Ctg>Ttg p.L815L NM_139285 NP_644814 Q8NHY3 GA2L2_HUMAN Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA. 815 cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCTCTCAACAGCCTGTCCTTG 0.632000 54 49 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179582760 179582760 + Missense_Mutation SNP T C C rs72648984 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:179582760T>C uc021vsy.1 - 82 21466 c.21241A>G c.(21241-21243)Aaa>Gaa p.K7081E TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K3742E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8008 Ig-like 52. 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) TGATCCACTTTGTTGATTACT 0.403000 163 45 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92982920 92982920 + Missense_Mutation SNP A T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:92982920A>T uc022axs.1 - 10 1869 c.1682T>A c.(1681-1683)cTg>cAg p.L561Q RUNX1T1_uc003yfc.2_Missense_Mutation_p.L475Q|RUNX1T1_uc010mam.3_Missense_Mutation_p.L475Q|RUNX1T1_uc003yfe.2_Missense_Mutation_p.L465Q|RUNX1T1_uc003yfd.3_Missense_Mutation_p.L502Q|RUNX1T1_uc022axo.1_Missense_Mutation_p.L502Q|RUNX1T1_uc010mao.3_Missense_Mutation_p.L475Q|RUNX1T1_uc011lgi.2_Missense_Mutation_p.L513Q|RUNX1T1_uc022axp.1_Missense_Mutation_p.L502Q|RUNX1T1_uc022axq.1_Missense_Mutation_p.L502Q|RUNX1T1_uc022axr.1_Missense_Mutation_p.L502Q|RUNX1T1_uc022axt.1_Missense_Mutation_p.L502Q|RUNX1T1_uc022axu.1_Missense_Mutation_p.L482Q|RUNX1T1_uc022axv.1_Missense_Mutation_p.L502Q|RUNX1T1_uc010man.2_Missense_Mutation_p.L127Q|RUNX1T1_uc003yfb.2_Missense_Mutation_p.L465Q NM_001198679 NP_001185608 Q06455 MTG8_HUMAN Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA. 502 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GATAACTGCCAGTGCGTCCTC 0.537000 21 32 0 0 1 0 0 ATP12A 479 broad.mit.edu 37 13 25262510 25262510 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr13:25262510C>T uc010aaa.3 + 3 615 c.282C>T c.(280-282)tcC>tcT p.S94S ATP12A_uc001upp.3_Silent_p.S94S NM_001185085 NP_001172014 P54707 AT12A_HUMAN Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA. 94 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GGCCCAACTCCCTCACCCCTC 0.577000 185 166 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482547 140482547 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:140482547C>T uc003lio.3 + 0 2314 c.2314C>T c.(2314-2316)Ccc>Tcc p.P772S BC016751_uc003lin.3_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 772 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCAATTATCCCCAACTTCGT 0.517000 30 48 0 0 1 0 0 TCRA 0 broad.mit.edu 37 14 22293950 22293950 + Splice_Site SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:22293950G>A uc001wbw.2 + 2 62 c.53_splice c.e2-1 p.R18_splice TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Splice_Site SubName: Full=Alpha-chain C region; Flags: Fragment; TCTGAATAGGGGGGAATGGCA 0.443000 30 27 0 0 1 0 0 LRP8 7804 broad.mit.edu 37 1 53755252 53755252 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:53755252G>A uc001cvi.2 - 2 591 c.354C>T c.(352-354)tcC>tcT p.S118S LRP8_uc001cvh.2_5'UTR|LRP8_uc001cvj.2_Silent_p.S118S|LRP8_uc001cvk.2_Silent_p.S118S|LRP8_uc001cvl.2_Silent_p.S118S NM_004631 NP_004622 Q14114 LRP8_HUMAN Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA. 118 LDL-receptor class A 2. cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 AAGTGGCCTCGGACTCATCGG 0.602000 8 7 0 0 1 0 0 IRF3 3661 broad.mit.edu 37 19 50165248 50165248 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:50165248C>T uc002poy.2 - 4 1958 c.939G>A c.(937-939)aaG>aaA p.K313K IRF3_uc021uxp.1_Silent_p.K167K|IRF3_uc021uxq.1_Silent_p.K167K|IRF3_uc002pot.2_Intron|IRF3_uc021uxr.1_Intron|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Silent_p.K313K|IRF3_uc021uxo.1_Silent_p.K278K|IRF3_uc002pou.3_Silent_p.K313K|IRF3_uc010end.2_Silent_p.K313K|IRF3_uc002poz.1_Silent_p.K313K NM_001197126 NP_001184055 Q14653 IRF3_HUMAN Homo sapiens interferon regulatory factor 3 (IRF3), transcript variant 6, mRNA. 313 Involved in HERC5 binding. MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1) 10 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CTTCCTTGTCCTTGGGGACCT 0.627000 200 65 0 0 1 0 0 LOC100499466 100499466 broad.mit.edu 37 17 66131141 66131141 + RNA SNP A G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:66131141A>G uc002jgq.3 + 5 c.10264A>G Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA. GGTCTCCAGGAGGTTGTGCAT 0.612000 13 7 0 0 1 0 0 PSMA5 5686 broad.mit.edu 37 1 109944642 109944642 + Missense_Mutation SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:109944642T>G uc001dxn.3 - 8 837 c.719A>C c.(718-720)gAc>gCc p.D240A PSMA5_uc010ovj.2_Missense_Mutation_p.D182A|PSMA5_uc021ord.1_Missense_Mutation_p.D182A|PSMA5_uc021ore.1_Missense_Mutation_p.D182A NM_002790 NP_001186703 P28066 PSA5_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA. 240 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex protein binding|threonine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2) 5 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235) TCCTTAAATGTCCTTGATAAC 0.403000 88 28 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157505553 157505554 + Nonsense_Mutation DNP CC TT TT TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:157505553_157505554CC>TT uc003qqp.3 + 11 3495_3496 c.3495_3496CC>TT c.(3493-3498)ctccag>ctTTag p.Q1166* ARID1B_uc003qqo.3_Nonsense_Mutation_p.Q1179*|ARID1B_uc003qqn.3_Nonsense_Mutation_p.Q1219* NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 1166 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) AGCCCAAGCTCCAGCCGCCATC 0.614000 39 16 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13807752 13807752 + Missense_Mutation SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:13807752T>G uc003jfd.2 - 46 7877 c.7835A>C c.(7834-7836)cAc>cCc p.H2612P NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2612 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTTGATCATGTGACATTCAGG 0.378000 Kartagener syndrome 19 5 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9061069 9061069 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:9061069G>A uc002mkp.3 - 2 26581 c.26377C>T c.(26377-26379)Cat>Tat p.H8793Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8795 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 GCCCCAGAATGACCTGTTTTG 0.502000 74 67 0 0 1 0 0 KIAA0564 23078 broad.mit.edu 37 13 42189112 42189112 + Splice_Site SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr13:42189112C>T uc001uyj.3 - 38 4790 c.4720_splice c.e38+1 p.G1574_splice NM_015058 NP_055873 A3KMH1 K0564_HUMAN Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA. 1574 extracellular region ATP binding|ATPase activity endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TGCTACCAACCTGTTCCGCCA 0.582000 17 24 0 0 1 0 0 STRN3 29966 broad.mit.edu 37 14 31382819 31382819 + Missense_Mutation SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:31382819T>C uc001wqu.2 - 9 1501 c.1285A>G c.(1285-1287)Atg>Gtg p.M429V STRN3_uc001wqv.2_Missense_Mutation_p.M345V|STRN3_uc010tpj.1_Intron NM_001083893 NP_001077362 Q13033 STRN3_HUMAN Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA. 429 negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity p.V429A(1) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.0124) TCAGAACCCATAATAAATGAC 0.383000 146 33 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653438 159653438 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:159653438C>T uc010kjv.3 + 10 2094 c.1894C>T c.(1894-1896)Cgt>Tgt p.R632C FNDC1_uc010kjw.1_Missense_Mutation_p.R517C NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 632 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CACCTCTCATCGTCCTTCCCT 0.677000 36 32 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48730417 48730417 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:48730417C>T uc003cuq.3 - 2 859 c.398G>A c.(397-399)cGt>cAt p.R133H IP6K2_uc003cup.3_Missense_Mutation_p.R133H NM_016291 NP_057375 Q9UHH9 IP6K2_HUMAN Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA. 133 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 ACGGTGCTGACGCACCCAGTC 0.463000 186 57 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9498876 9498876 + Splice_Site SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:9498876G>A uc002wni.2 + 5 1159 c.664_splice c.e5+1 p.E222_splice LAMP5_uc010zrc.2_Splice_Site_p.E178_splice NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA. 222 integral to membrane TTCAGTGAAGGTAAGTTGTTG 0.493000 14 20 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178139609 178139609 + Nonsense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:178139609G>A uc003mjj.3 - 4 1468 c.1270C>T c.(1270-1272)Cga>Tga p.R424* NM_005649 NP_005640 O60765 Z354A_HUMAN Homo sapiens zinc finger protein 354A (ZNF354A), mRNA. 424 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) CTATTAAGTCGTGAAATAGAA 0.383000 59 15 0 0 1 0 0 C10orf28 27291 broad.mit.edu 37 10 99968068 99968068 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:99968068C>A uc001kox.4 + 4 547 c.197C>A c.(196-198)cCg>cAg p.P66Q C10orf28_uc001kow.4_Missense_Mutation_p.P66Q|C10orf28_uc001koy.4_Missense_Mutation_p.P66Q|C10orf28_uc009xvx.3_Missense_Mutation_p.P66Q|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron NM_014472 NP_055287 Q4KMY3 Q4KMY3_HUMAN Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA. 66 nucleotide binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2) 20 Colorectal(252;0.234) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09) AAAGACAAACCGGAGGCTCGA 0.368000 72 24 9.57634e-11 9.87694e-11 1 1 0 LRRTM4 80059 broad.mit.edu 37 2 77745537 77745537 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:77745537C>T uc002snr.3 - 2 1873 c.1458G>A c.(1456-1458)gtG>gtA p.V486V LRRTM4_uc002snq.3_Silent_p.V486V|LRRTM4_uc002sns.2_Silent_p.V486V|LRRTM4_uc002snt.2_Silent_p.V487V NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA. 486 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GCTTGTAGTCCACATAATACT 0.458000 38 8 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585319 7585319 + Silent SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:7585319T>C uc003mxp.1 + 23 8103 c.7824T>C c.(7822-7824)tcT>tcC p.S2608S DSP_uc003mxq.1_Silent_p.S2009S|DSP_uc021yle.1_Silent_p.S2165S NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2608 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GGAGCAGCTCTTTTTCAGACA 0.463000 50 93 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86622031 86622031 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:86622031C>T uc001dlj.3 - 0 124 c.49G>A c.(49-51)Gca>Aca p.A17T COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.A17T NM_152890 NP_690850 Q17RW2 COOA1_HUMAN Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA. 17 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TACGTTTTTGCCGTGGGGGAG 0.542000 174 4 0 0 1 0 0 DKKL1 27120 broad.mit.edu 37 19 49878176 49878176 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:49878176G>A uc002pnk.3 + 4 834 c.620G>A c.(619-621)gGg>gAg p.G207E DKKL1_uc021uxk.1_Missense_Mutation_p.G132E|DKKL1_uc021uxl.1_Missense_Mutation_p.G176E NM_014419 NP_001184231 Q9UK85 DKKL1_HUMAN Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA. 207 anatomical structure morphogenesis extracellular space protein binding|signal transducer activity large_intestine(2)|upper_aerodigestive_tract(1) 3 all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456) CTCCGCAAGGGGACCCACAAG 0.667000 32 27 0 0 1 0 0 C6orf170 221322 broad.mit.edu 37 6 121482100 121482100 + Silent SNP G T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:121482100G>T uc003pyo.1 - 22 2741 c.2673C>A c.(2671-2673)ctC>ctA p.L891L C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'UTR|C6orf170_uc003pyp.1_Silent_p.L451L NM_152730 NP_689943 Q96NH3 BROMI_HUMAN Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA. 891 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1) 55 GBM - Glioblastoma multiforme(226;0.00521) TCACCTTTTCGAGTAACCTCG 0.398000 21 33 5.04308e-16 5.3085e-16 1 1 0 COL11A2 1302 broad.mit.edu 37 6 33147551 33147552 + Missense_Mutation DNP CC TG TG TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:33147551_33147552CC>TG uc003ocx.1 - 12 1618_1619 c.1390_1391GG>CA c.(1390-1392)ggc>CAc p.G464H COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.G378H|COL11A2_uc003ocz.1_Missense_Mutation_p.G357H NM_080680 NP_542411 P13942 COBA2_HUMAN Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA. 464 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CACCACAGGGCCCTTGTCACCC 0.644000 94 11 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048950 9048950 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:9048950G>A uc002mkp.3 - 4 32885 c.32681C>T c.(32680-32682)cCa>cTa p.P10894L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 10896 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGTCAGAATTGGAATAGTTGT 0.483000 130 31 0 0 1 0 0 ACTN4 81 broad.mit.edu 37 19 39212329 39212329 + Splice_Site SNP G A A rs111813739 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:39212329G>A uc002oja.2 + 12 1561 c.1442_splice c.e12+1 p.N481_splice ACTN4_uc010egc.2_Silent_p.K481K|ACTN4_uc021uug.1_Splice_Site_p.N262_splice NM_004924 NP_004915 O43707 ACTN4_HUMAN Homo sapiens actinin, alpha 4 (ACTN4), mRNA. 481 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) AGGAGCTCAAGTACGTGCGGG 0.652000 57 21 0 0 1 0 0 CD151 977 broad.mit.edu 37 11 836823 836823 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:836823G>A uc001lry.3 + 4 475 c.331G>A c.(331-333)Gcc>Acc p.A111T CD151_uc001lrx.3_Non-coding_Transcript|CD151_uc001lrz.3_Missense_Mutation_p.A111T|CD151_uc001lsa.3_Missense_Mutation_p.A111T|CD151_uc001lsb.3_Missense_Mutation_p.A111T NM_004357 NP_620599 P48509 CD151_HUMAN Homo sapiens CD151 molecule (Raph blood group) (CD151), transcript variant 1, mRNA. 111 cell adhesion|hemidesmosome assembly cytosol|integral to plasma membrane|membrane fraction protein binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 3 all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227) all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) TGGTATCCTCGCCTACGCCTA 0.602000 25 13 0 0 1 0 0 MAGOHB 55110 broad.mit.edu 37 12 10766047 10766047 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:10766047G>A uc001qyq.2 - 0 162 c.85C>T c.(85-87)Cgg>Tgg p.R29W MAGOHB_uc001qyr.2_Non-coding_Transcript NM_018048 NP_060518 Q96A72 MGN2_HUMAN Homo sapiens mago-nashi homolog B (Drosophila) (MAGOHB), mRNA. 29 RNA splicing|mRNA processing|mRNA transport nucleus RNA binding breast(2)|large_intestine(2) 4 CCGTCCGGCCGAAATTCGAAC 0.617000 110 34 0 0 1 0 0 RANGRF 29098 broad.mit.edu 37 17 8192610 8192610 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:8192610G>A uc002gkv.3 + 2 367 c.229G>A c.(229-231)Gct>Act p.A77T SLC25A35_uc002gkt.3_Intron|SLC25A35_uc002gku.1_3'UTR|RANGRF_uc002gky.3_Missense_Mutation_p.A77T|RANGRF_uc002gkx.3_Missense_Mutation_p.A77T|RANGRF_uc002gkw.3_Missense_Mutation_p.A77T|SLC25A35_uc002gkz.1_Non-coding_Transcript NM_016492 NP_057576 Q9HD47 MOG1_HUMAN Homo sapiens RAN guanine nucleotide release factor (RANGRF), transcript variant 1, mRNA. 77 protein transport cytoplasm|nucleus guanyl-nucleotide exchange factor activity endometrium(1) 1 CGTGCAGGGGGCTAGGGCTGT 0.597000 44 54 0 0 1 0 0 C4orf50 389197 broad.mit.edu 37 4 5990146 5990146 + RNA SNP C T T rs142834094 by1000genomes TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:5990146C>T uc003git.2 - 0 c.1229G>A Q6ZRC1 CD050_HUMAN Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772. breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1) 15 TCTCCTCTTTCTCCAAATGTG 0.537000 9 10 0 0 1 0 0 CDKN2B 1030 broad.mit.edu 37 9 22006193 22006193 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:22006193C>T uc003zpo.3 - 1 570 c.210G>A c.(208-210)gcG>gcA p.A70A MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR NM_004936 NP_004927 P42772 CDN2B_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA. 70 G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|cell cycle arrest|cellular response to nutrient|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|protein kinase binding p.0(1)|p.0?(1) lung(2) 2 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143) AGTTGGGCTCCGCGCCGTGGA 0.697000 38 10 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47947802 47947802 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:47947802C>T uc003tny.2 - 8 1308 c.1274G>A c.(1273-1275)gGa>gAa p.G425E NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 425 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CACTTCGGTTCCATGAAACTC 0.418000 34 42 0 0 1 0 0 MCM7 4176 broad.mit.edu 37 7 99690928 99690928 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:99690928C>T uc003usw.1 - 13 2455 c.1945G>A c.(1945-1947)Ggg>Agg p.G649R MCM7_uc003usv.1_Missense_Mutation_p.G473R|MCM7_uc003usx.1_Missense_Mutation_p.G473R|DD413568_uc022aif.1_5'Flank NM_005916 NP_005907 P33993 MCM7_HUMAN Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA. 649 Interaction with ATRIP. DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus MCM complex|chromatin ATP binding|protein binding endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) Atorvastatin(DB01076) GCTGTCTGCCCCTTGTCTCCT 0.483000 224 36 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10247210 10247210 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:10247210C>T uc002gmk.1 - 15 1891 c.1801G>A c.(1801-1803)Gac>Aac p.D601N MYH13_uc010vvf.1_Missense_Mutation_p.D276N NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 601 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 TTCAGGGGGTCCTTGTTTTTG 0.552000 34 38 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071105 9071105 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:9071105C>T uc002mkp.3 - 2 16545 c.16341G>A c.(16339-16341)tcG>tcA p.S5447S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5449 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 GTGTGGCTTTCGATGTCTCTG 0.493000 225 49 0 0 1 0 0 UBXN2A 165324 broad.mit.edu 37 2 24194228 24194228 + Nonsense_Mutation SNP G T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:24194228G>T uc010exy.3 + 3 592 c.124G>T c.(124-126)Gag>Tag p.E42* UBXN2A_uc002rem.3_Non-coding_Transcript|UBXN2A_uc002ren.3_Nonsense_Mutation_p.E42*|UBXN2A_uc010ykj.2_Nonsense_Mutation_p.E42* NM_181713 NP_859064 P68543 UBX2A_HUMAN Homo sapiens UBX domain protein 2A (UBXN2A), mRNA. 42 endometrium(1)|large_intestine(3)|liver(1)|lung(6) 11 TAGCCTTTTTGAGGAAGCTCA 0.333000 84 37 3.76114e-14 3.94105e-14 1 1 0 TRPV6 55503 broad.mit.edu 37 7 142574936 142574936 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:142574936C>A uc003wbx.2 - 3 675 c.446G>T c.(445-447)gGc>gTc p.G149V TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Missense_Mutation_p.G20V NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 149 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding p.G149V(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GAAGGCAGTGCCTGTGGCTCT 0.617000 159 30 2.61193e-14 2.74312e-14 1 1 0 IRF5 3663 broad.mit.edu 37 7 128582271 128582271 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:128582271C>T uc003voh.3 + 1 257 c.136C>T c.(136-138)Ccc>Tcc p.P46S IRF5_uc010llr.1_Missense_Mutation_p.P46S|IRF5_uc011kot.1_Missense_Mutation_p.P46S|IRF5_uc011kou.1_Missense_Mutation_p.P46S|IRF5_uc010lls.1_Missense_Mutation_p.P46S|IRF5_uc003vog.3_Missense_Mutation_p.P46S|IRF5_uc010llt.3_Missense_Mutation_p.P46S|IRF5_uc003voi.3_Missense_Mutation_p.P46S|IRF5_uc010llu.1_Missense_Mutation_p.P46S|IRF5_uc003vok.2_Missense_Mutation_p.P46S|IRF5_uc003voj.4_Missense_Mutation_p.P46S|IRF5_uc010llv.1_Missense_Mutation_p.P46S|IRF5_uc010llw.1_Missense_Mutation_p.P46S NM_001098630 NP_116032 Q13568 IRF5_HUMAN Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA. 46 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 ATTCTGCATCCCCTGGAGGCA 0.617000 83 66 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121444982 121444982 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:121444982C>T uc001pxx.3 + 23 3499 c.3370C>T c.(3370-3372)Cgt>Tgt p.R1124C SORL1_uc010rzp.1_5'Flank NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 1124 LDL-receptor class A 2. 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) CACCCAGTTTCGTTGCCAGGA 0.438000 81 35 0 0 1 0 0 POLA1 5422 broad.mit.edu 37 X 25014063 25014063 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:25014063C>T uc004dbl.3 + 36 4400 c.4385C>T c.(4384-4386)tCc>tTc p.S1462F NM_016937 NP_058633 P09884 DPOLA_HUMAN Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA. 1462 DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2) 11 Clofarabine(DB00631)|Fludarabine(DB01073) GCCGTGAAATCCTAAGGGAAT 0.498000 5 14 0 0 1 0 0 FSCN2 25794 broad.mit.edu 37 17 79495838 79495838 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:79495838C>T uc010wuo.2 + 0 422 c.281C>T c.(280-282)cCg>cTg p.P94L FSCN2_uc010wup.2_Missense_Mutation_p.P94L NM_001077182 NP_001070650 O14926 FSCN2_HUMAN Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA. 94 actin filament bundle assembly|anatomical structure morphogenesis|visual perception actin cytoskeleton|cytoplasm|stereocilium actin filament binding|protein binding, bridging endometrium(1)|lung(1)|prostate(1)|urinary_tract(1) 4 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) CTGGTCCTGCCGCAGCCAGAT 0.716000 3 5 0 0 1 0 0 PRSS3P2 154754 broad.mit.edu 37 7 142481789 142481789 + Silent SNP T C C rs140267598 by1000genomes TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:142481789T>C uc011ksq.2 + 3 551 c.468T>C c.(466-468)gaT>gaC p.D156D TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA. ACTACCCAGATGAGCTGCAGT 0.488000 90 4 0 0 1 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153276334 153276334 + Splice_Site SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:153276334C>A uc001fbn.1 - 4 582 c.529_splice c.e4+1 p.V177_splice NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA. 177 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGGTCTTACCCTTCCTGGGCA 0.532000 49 111 1.81142e-54 1.95142e-54 1 1 0 SERPINI1 5274 broad.mit.edu 37 3 167512427 167512427 + Silent SNP C G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:167512427C>G uc003ffa.4 + 4 894 c.696C>G c.(694-696)tcC>tcG p.S232S SERPINI1_uc003ffb.4_Silent_p.S232S NM_001122752 NP_005016 Q99574 NEUS_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA. 232 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 GTGATGGCTCCAATGAAGCTG 0.403000 45 11 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507120 74507120 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:74507120C>T uc001dfy.4 - 6 1687 c.1495G>A c.(1495-1497)Gag>Aag p.E499K LRRIQ3_uc001dfz.4_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 499 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 GCTTTTCTCTCTCTAGCTTTT 0.338000 63 26 0 0 1 0 0 GALT 2592 broad.mit.edu 37 9 34649004 34649005 + Missense_Mutation DNP CC TT TT TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:34649004_34649005CC>TT uc003zve.3 + 8 897_898 c.830_831CC>TT c.(829-831)tcc>tTT p.S277F GALT_uc003zvf.3_Missense_Mutation_p.S168F|GALT_uc011lop.1_3'UTR|IL11RA_uc003zvi.3_5'Flank NM_000155 NP_000146 P07902 GALT_HUMAN Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA. 277 galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1) 16 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) GATCTAGCCTCCATCATGAAGA 0.515000 Galactosemia 134 94 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77762249 77762249 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:77762249G>A uc003ugx.3 - 17 3414 c.3160C>T c.(3160-3162)Cca>Tca p.P1054S MAGI2_uc003ugy.3_Missense_Mutation_p.P1040S|MAGI2_uc010ldx.1_Missense_Mutation_p.P647S NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA. 1054 Pro-rich. cell junction|synapse|synaptosome phosphatase binding p.Q1053Q(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) GGTGGTGCTGGCTGGGCGATG 0.582000 475 103 0 0 1 0 0 ODZ1 10178 broad.mit.edu 37 X 123779112 123779112 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:123779112C>T uc010nqy.3 - 9 1821 c.1757G>A c.(1756-1758)gGg>gAg p.G586E ODZ1_uc011muj.2_Missense_Mutation_p.G585E|ODZ1_uc004euj.3_Missense_Mutation_p.G586E NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 586 EGF-like 2. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 ACACTCTGGCCCCTTCCAGCC 0.522000 68 200 0 0 1 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554032 140554032 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:140554032C>T uc003lit.3 + 0 1790 c.1616C>T c.(1615-1617)cCc>cTc p.P539L NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN Homo sapiens protocadherin beta 7 (PCDHB7), mRNA. 539 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P539T(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGCGGCTCCCCCGCGCTGAGC 0.692000 124 48 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196311216 196311216 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:196311216G>A uc001gtd.1 - 14 1606 c.1546C>T c.(1546-1548)Cac>Tac p.H516Y KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Missense_Mutation_p.H516Y|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc009wyu.3_Missense_Mutation_p.H516Y|KCNT2_uc001gth.1_Missense_Mutation_p.H37Y NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA. 516 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TACTTTTTGTGTGCATGGAAA 0.323000 53 7 0 0 1 0 0 FOXJ3 22887 broad.mit.edu 37 1 42647664 42647664 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:42647664G>A uc001che.3 - 13 1989 c.1677C>T c.(1675-1677)ctC>ctT p.L559L FOXJ3_uc001chf.3_Silent_p.L559L|FOXJ3_uc001chh.2_Silent_p.L525L|FOXJ3_uc001chg.3_Silent_p.L559L NM_001198851 NP_001185780 Q9UPW0 FOXJ3_HUMAN Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA. 559 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTGAAGGAGGGAGATTTTGCC 0.428000 16 8 0 0 1 0 0 AIF1 199 broad.mit.edu 37 6 31583327 31583327 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:31583327C>A uc003nuy.3 + 1 129 c.55C>A c.(55-57)Cag>Aag p.Q19K AIF1_uc010jsy.3_5'UTR|AIF1_uc003nva.3_5'Flank NM_001623 NP_116573 P55008 AIF1_HUMAN Homo sapiens allograft inflammatory factor 1 (AIF1), transcript variant 3, mRNA. 19 actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation nucleus|ruffle membrane actin filament binding|calcium ion binding lung(2)|ovary(1) 3 GCTGAAGGCCCAGCAGGAAGA 0.577000 40 17 3.52763e-06 3.58214e-06 1 1 0 NHSL2 340527 broad.mit.edu 37 X 71360307 71360307 + Missense_Mutation SNP G C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:71360307G>C uc011mqa.2 + 5 2909 c.2909G>C c.(2908-2910)aGt>aCt p.S970T NHSL2_uc004eak.1_Missense_Mutation_p.S604T|NHSL2_uc010nli.2_Missense_Mutation_p.S739T NM_001013627 NP_001013649 F5H593 F5H593_HUMAN Homo sapiens NHS-like 2 (NHSL2), mRNA. 970 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) CCCCAGGGAAGTGTAGAGGAC 0.537000 16 4 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140374050 140374051 + Missense_Mutation DNP CC TT TT TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:140374050_140374051CC>TT uc003vvy.1 + 0 1098_1099 c.920_921CC>TT c.(919-921)tcc>tTT p.S307F ADCK2_uc003vvz.3_Missense_Mutation_p.S307F NM_052853 NP_443085 Q7Z695 ADCK2_HUMAN Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA. 307 Protein kinase. S -> P (in dbSNP:rs1140034). integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) AACCTCATCTCCGTGGCAGTGA 0.554000 98 22 0 0 1 0 0 ACVRL1 94 broad.mit.edu 37 12 52307352 52307352 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:52307352C>T uc001rzj.3 + 3 606 c.323C>T c.(322-324)cCt>cTt p.P108L ACVRL1_uc001rzk.3_Missense_Mutation_p.P108L|ACVRL1_uc010snm.2_Intron NM_000020 NP_001070869 P37023 ACVL1_HUMAN Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA. 108 blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) GCCACCCAACCTCCTTCGGAG 0.677000 14 17 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132490671 132490671 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:132490671C>T uc001ujn.3 + 13 3102 c.2950C>T c.(2950-2952)Cca>Tca p.P984S EP400_uc021rgq.1_Missense_Mutation_p.P983S|EP400_uc001ujm.3_Missense_Mutation_p.P984S NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 1020 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGATGACTGTCCAGGCGACAG 0.428000 53 6 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40408594 40408594 + Silent SNP G A A rs141092836 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:40408594G>A uc002omp.4 - 7 4253 c.4245C>T c.(4243-4245)ttC>ttT p.F1415F NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 1415 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) AGGAGTTGCCGAACTCATTGG 0.632000 73 23 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79767502 79767502 + Missense_Mutation SNP C G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:79767502C>G uc001jzn.3 - 14 2165 c.2032G>C c.(2032-2034)Gat>Cat p.D678H NM_007055 NP_008986 O14802 RPC1_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA. 678 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GACATGGCATCTGCAGCTTCA 0.468000 51 17 0 0 1 0 0 SH3GL1 6455 broad.mit.edu 37 19 4364187 4364187 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:4364187C>A uc002maj.3 - 4 563 c.363G>T c.(361-363)atG>atT p.M121I SH3GL1_uc002mak.3_Intron|SH3GL1_uc010xig.2_Missense_Mutation_p.M73I NM_003025 NP_003016 Q99961 SH3G1_HUMAN Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA. 121 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane lipid binding|protein binding NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182) CCAGGCGCTTCATGGACTCGC 0.587000 T MLL AL 75 25 3.28513e-13 3.41891e-13 1 1 0 PLEKHA5 54477 broad.mit.edu 37 12 19410385 19410385 + Missense_Mutation SNP A G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:19410385A>G uc001reb.3 + 5 559 c.451A>G c.(451-453)Aaa>Gaa p.K151E PLEKHA5_uc010sie.2_Missense_Mutation_p.K151E|PLEKHA5_uc001rea.3_Missense_Mutation_p.K151E|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Missense_Mutation_p.K43E|PLEKHA5_uc010sih.1_Missense_Mutation_p.K43E|PLEKHA5_uc021qvy.1_Missense_Mutation_p.K43E NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA. 151 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AGCTTCAAAAAAAGTTCATAA 0.318000 47 29 0 0 1 0 0 SNRPD2 6633 broad.mit.edu 37 19 46190861 46190861 + Missense_Mutation SNP C A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:46190861C>A uc002pcw.3 - 2 604 c.307G>T c.(307-309)Ggg>Tgg p.G103W SNRPD2_uc002pcv.3_Missense_Mutation_p.G93W NM_004597 NP_808210 P62316 SMD2_HUMAN Homo sapiens small nuclear ribonucleoprotein D2 polypeptide 16.5kDa (SNRPD2), transcript variant 1, mRNA. 103 ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly U12-type spliceosomal complex|catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex protein binding breast(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194) ACTGAGTCCCCGCGCAGGAAC 0.572000 54 38 1.04594e-18 1.11116e-18 1 1 0 PTBP1 5725 broad.mit.edu 37 19 808727 808727 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:808727C>T uc002lpr.2 + 11 1456 c.1350C>T c.(1348-1350)ttC>ttT p.F450F PTBP1_uc002lps.2_Silent_p.F116F|PTBP1_uc002lpp.2_Silent_p.F476F|PTBP1_uc002lpq.2_Silent_p.F469F NM_031991 NP_114368 P26599 PTBP1_HUMAN Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA. 450 negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) AGAACATATTCCCGCCCTCGG 0.672000 34 10 0 0 1 0 0 EXOSC9 5393 broad.mit.edu 37 4 122728717 122728717 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:122728717C>T uc003iea.3 + 5 653 c.545C>T c.(544-546)cCt>cTt p.P182L EXOSC9_uc003idz.3_Missense_Mutation_p.P182L|EXOSC9_uc003ieb.3_Missense_Mutation_p.P166L|EXOSC9_uc010inp.1_Non-coding_Transcript NM_005033 NP_005024 Q06265 EXOS9_HUMAN Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA. 182 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1) 16 GAGCGTGATCCTGTACCATTA 0.363000 45 37 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7675465 7675465 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:7675465C>T uc002mgu.4 + 7 1046 c.945C>T c.(943-945)tcC>tcT p.S315S CAMSAP3_uc002mgv.4_Silent_p.S288S NM_001080429 NP_001073898 Q9P1Y5 CAMP3_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA. 288 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding p.L314Q(1) cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 GCCCCCTGTCCCTTGAGGACT 0.647000 164 53 0 0 1 0 0 FAM65C 140876 broad.mit.edu 37 20 49236621 49236621 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:49236621G>A uc010zyt.2 - 2 422 c.171C>T c.(169-171)tcC>tcT p.S57S FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.S53S|FAM65C_uc002xvn.1_Silent_p.S53S NM_080829 NP_543019 Q96MK2 FA65C_HUMAN Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA. 53 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ACATCTTGGAGGATTTTGCAG 0.542000 130 16 0 0 1 0 0 OR5K1 26339 broad.mit.edu 37 3 98188954 98188954 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:98188954C>T uc003dsm.3 + 0 534 c.534C>T c.(532-534)taC>taT p.Y178Y NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA. 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACCACTTTTACTGTGATATTC 0.398000 171 116 0 0 1 0 0 FTMT 94033 broad.mit.edu 37 5 121187822 121187822 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:121187822C>T uc003kss.3 + 0 173 c.164C>T c.(163-165)tCc>tTc p.S55F NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA. 55 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) GCCGCCTCCTCCCGGGACCCT 0.761000 11 14 0 0 1 0 0 WWTR1 25937 broad.mit.edu 37 3 149245639 149245639 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:149245639C>T uc003exf.3 - 4 1229 c.889G>A c.(889-891)Gat>Aat p.D297N WWTR1_uc003exe.3_Missense_Mutation_p.D297N|WWTR1_uc021xfm.1_Missense_Mutation_p.D297N|WWTR1_uc003exh.3_Missense_Mutation_p.D297N NM_015472 NP_056287 Q9GZV5 WWTR1_HUMAN Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA. 297 hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent cytoplasm transcription coactivator activity breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 23 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) AGGAAAGGATCTGAGCTATTA 0.428000 T CAMTA1 epitheliod hemangioendothelioma 368 59 0 0 1 0 0 TJP1 7082 broad.mit.edu 37 15 30008956 30008956 + Missense_Mutation SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:30008956T>C uc001zcr.3 - 22 4536 c.4061A>G c.(4060-4062)tAt>tGt p.Y1354C TJP1_uc010azl.3_Missense_Mutation_p.Y1342C|TJP1_uc001zcq.3_Missense_Mutation_p.Y1278C|TJP1_uc001zcs.3_Missense_Mutation_p.Y1274C NM_003257 NP_003248 Q07157 ZO1_HUMAN Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA. 1354 cell-cell junction assembly|cellular component disassembly involved in apoptosis Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TTTTCGATAATATTCTTCATC 0.448000 28 25 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73062598 73062598 + RNA SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:73062598G>A uc004ebm.1 - 0 c.9991C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. CAAGAGAAAGGGCCTTGTCTG 0.468000 9 20 0 0 1 0 0 DCLK3 85443 broad.mit.edu 37 3 36778846 36778846 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:36778846C>T uc003cgi.2 - 1 1796 c.1305G>A c.(1303-1305)caG>caA p.Q435Q NM_033403 NP_208382 Q9C098 DCLK3_HUMAN Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA. 435 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 GGTCTCCTCCCTGCACGTACT 0.498000 85 22 0 0 1 0 0 CAND1 55832 broad.mit.edu 37 12 67698933 67698933 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:67698933C>T uc001stn.2 + 9 1922 c.1485C>T c.(1483-1485)atC>atT p.I495I CAND1_uc001sto.2_Intron NM_018448 NP_060918 Q86VP6 CAND1_HUMAN Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA. 495 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) ATTTGAAGATCGATGCTTTGT 0.398000 94 26 0 0 1 0 0 KCNJ13 3769 broad.mit.edu 37 2 233633146 233633146 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:233633146C>T uc002vto.3 - 1 881 c.838G>A c.(838-840)Gaa>Aaa p.E280K GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.4_Intron|GIGYF2_uc002vti.4_Intron|GIGYF2_uc002vtk.4_Intron|GIGYF2_uc002vth.4_Intron|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.3_3'UTR|KCNJ13_uc002vtp.3_Missense_Mutation_p.E280K|KCNJ13_uc021vyk.1_Missense_Mutation_p.E200K NM_001172417 NP_001165888 O60928 IRK13_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA. 280 voltage-gated potassium channel complex inward rectifier potassium channel activity endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1) 9 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908) Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617) TGGCATATTTCTCCAGTGCCC 0.433000 155 38 0 0 1 0 0 CCKBR 887 broad.mit.edu 37 11 6292675 6292675 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:6292675C>T uc001mcp.3 + 4 1501 c.1246C>T c.(1246-1248)Cgc>Tgc p.R416C CCKBR_uc001mcq.3_Missense_Mutation_p.R344C|CCKBR_uc001mcr.3_Missense_Mutation_p.R399C|CCKBR_uc001mcs.3_Missense_Mutation_p.R485C NM_176875 NP_795344 P32239 GASR_HUMAN Homo sapiens cholecystokinin B receptor (CCKBR), mRNA. 416 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) TCCACGAGCTCGCCCCAGGGC 0.652000 54 25 0 0 1 0 0 GJA8 2703 broad.mit.edu 37 1 147380991 147380991 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:147380991G>A uc021ovm.1 + 0 909 c.909G>A c.(907-909)aaG>aaA p.K303K GJA8_uc001epu.2_Silent_p.K303K NM_005267 NP_005258 P48165 CXA8_HUMAN Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA. 303 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) TCGAGGAGAAGATCAGCACAG 0.587000 29 23 0 0 1 0 0 LIN7A 8825 broad.mit.edu 37 12 81239560 81239560 + Silent SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:81239560T>C uc001szj.1 - 3 625 c.432A>G c.(430-432)gaA>gaG p.E144E LIN7A_uc001szk.1_Non-coding_Transcript NM_004664 NP_004655 O14910 LIN7A_HUMAN Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA. 144 PDZ. exocytosis|protein complex assembly|protein transport basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction L27 domain binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2) 15 CTCCGTGTCTTTCAGCCACCC 0.433000 65 23 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54723007 54723007 + Missense_Mutation SNP T A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:54723007T>A uc010erh.1 - 8 1592 c.1468A>T c.(1468-1470)Agg>Tgg p.R490W LILRB3_uc002qee.1_Missense_Mutation_p.R473W|LILRB3_uc002qef.1_Missense_Mutation_p.R473W|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.R473W|LILRB3_uc002qeh.1_Missense_Mutation_p.R473W|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.R473W|LILRB3_uc002qek.1_Missense_Mutation_p.R473W|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Missense_Mutation_p.R473W|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.R473W|LILRB3_uc002qep.1_Missense_Mutation_p.R473W|LILRB3_uc002qeq.1_Missense_Mutation_p.R473W NM_006864 NP_006855 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA. 473 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CCAGATGTCCTGTGTTTGCTG 0.597000 70 21 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58549307 58549307 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:58549307G>A uc002qrc.1 + 2 350 c.103G>A c.(103-105)Gaa>Aaa p.E35K ZSCAN1_uc002qra.1_Missense_Mutation_p.E35K|ZSCAN1_uc002qrb.1_Missense_Mutation_p.E35K NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA. 35 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CAGGGACACCGAAGCCCAGCG 0.716000 32 14 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23897092 23897092 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:23897092G>A uc001wjx.3 - 15 1696 c.1590C>T c.(1588-1590)atC>atT p.I530I NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 530 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GGATGGACATGATGCCCATGG 0.537000 55 16 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121485604 121485604 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:121485604C>T uc001pxx.3 + 40 5573 c.5444C>T c.(5443-5445)tCc>tTc p.S1815F SORL1_uc010rzp.1_Missense_Mutation_p.S661F|SORL1_uc010rzq.1_Missense_Mutation_p.S430F NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 1815 Fibronectin type-III 3. 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) GCTCATACATCCTATGAGATT 0.507000 39 15 0 0 1 0 0 NFIB 4781 broad.mit.edu 37 9 14307321 14307321 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:14307321G>A uc022bdo.1 - 1 764 c.229C>T c.(229-231)Ctt>Ttt p.L77F NFIB_uc003zlf.3_Missense_Mutation_p.L77F|NFIB_uc003zle.3_Missense_Mutation_p.L77F|NFIB_uc022bdp.1_Missense_Mutation_p.L103F|NFIB_uc011lmo.2_Missense_Mutation_p.L77F NM_001190737 NP_001177666 O00712 NFIB_HUMAN Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA. 77 Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) AGTTTGGCAAGGAGCCTGGAT 0.483000 T """MYB, HGMA2""" """adenoid cystic carcinoma, lipoma""" 92 18 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111898453 111898453 + Silent SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:111898453T>C uc003dyu.3 - 22 3066 c.2844A>G c.(2842-2844)ggA>ggG p.G948G SLC9C1_uc011bhu.2_Silent_p.G211G|SLC9C1_uc010hqc.3_Silent_p.G900G NM_183061 NP_898884 Q4G0N8 S9A10_HUMAN Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA. 948 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CTATTATTTCTCCACTGAGCA 0.383000 81 11 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31531775 31531775 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr22:31531775G>A uc003aka.3 - 6 1593 c.1464C>T c.(1462-1464)aaC>aaT p.N488N NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 488 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 GCAGGCACTGGTTGTAGAATG 0.602000 44 124 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70071199 70071199 + Missense_Mutation SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:70071199T>G uc010kak.3 + 27 4310 c.4034T>G c.(4033-4035)gTa>gGa p.V1345G BAI3_uc003pev.4_Missense_Mutation_p.V1345G|BAI3_uc011dxx.2_Missense_Mutation_p.V551G NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 1345 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) CACTACAAAGTAAACCCTGAA 0.408000 34 58 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67047244 67047244 + Nonsense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:67047244C>T uc003xvv.3 + 2 587 c.361C>T c.(361-363)Cag>Tag p.Q121* TRIM55_uc003xvu.3_Nonsense_Mutation_p.Q121*|TRIM55_uc003xvw.3_Nonsense_Mutation_p.Q121*|TRIM55_uc003xvx.3_Nonsense_Mutation_p.Q121* NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 121 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GAAATCCGACCAGCCCATGTG 0.522000 34 28 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140798510 140798510 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:140798510C>T uc003lkn.2 + 0 1251 c.1084C>T c.(1084-1086)Cca>Tca p.P362S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.P362S|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank NM_018927 NP_061750 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA. 365 Cadherin 4. 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) GGATTCCCCTCCAGGAGTGGT 0.443000 23 28 0 0 1 0 0 DMTF1 9988 broad.mit.edu 37 7 86794313 86794313 + Missense_Mutation SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:86794313T>G uc003uih.3 + 2 382 c.56T>G c.(55-57)gTg>gGg p.V19G DMTF1_uc003uii.3_5'UTR|DMTF1_uc003uij.3_5'UTR|DMTF1_uc011khb.2_Intron|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.V19G|DMTF1_uc003uim.1_Missense_Mutation_p.V19G|DMTF1_uc003uin.3_5'UTR NM_001142327 NP_001135798 Q9Y222 DMTF1_HUMAN Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA. 19 Interaction with CCND2 (By similarity). cell cycle cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1) 16 Esophageal squamous(14;0.0058) GTGAACTCTGTGACTTTGACT 0.398000 28 10 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29295565 29295565 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:29295565C>T uc002rmt.2 - 0 1563 c.1563G>A c.(1561-1563)cgG>cgA p.R521R NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA. 521 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 ATGGGCTTTCCCGGTCAGCAG 0.527000 111 25 0 0 1 0 0 TEX13B 56156 broad.mit.edu 37 X 107224452 107224452 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:107224452G>A uc004enn.1 - 2 890 c.797C>T c.(796-798)tCc>tTc p.S266F NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN Homo sapiens testis expressed 13B (TEX13B), mRNA. 266 breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 AGCTGGACAGGAAGAGGCTCC 0.527000 110 58 0 0 1 0 0 FAM48B1 100130302 broad.mit.edu 37 X 24380989 24380989 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:24380989G>A uc011mjx.2 + 0 112 c.112G>A c.(112-114)Gaa>Aaa p.E38K NM_001136234 NP_001129706 Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA. breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1) 26 AACTCTGCAGGAAAAACTTTA 0.418000 15 27 0 0 1 0 0 CGREF1 10669 broad.mit.edu 37 2 27325020 27325020 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:27325020G>A uc010eyr.2 - 3 658 c.653C>T c.(652-654)tCc>tTc p.S218F CGREF1_uc010ylf.2_5'UTR|CGREF1_uc021vez.1_Missense_Mutation_p.S96F|CGREF1_uc002riq.3_Missense_Mutation_p.S96F|CGREF1_uc021vfa.1_Missense_Mutation_p.S96F|CGREF1_uc010eys.2_Missense_Mutation_p.S96F|CGREF1_uc002rir.2_Missense_Mutation_p.S96F NM_006569 NP_006560 Q99674 CGRE1_HUMAN Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA. 96 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTCAACATGGACAGCAGCTC 0.552000 48 13 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14862499 14862499 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:14862499G>A uc003bzc.3 + 0 2031 c.1921G>A c.(1921-1923)Gac>Aac p.D641N FGD5_uc011avk.2_Missense_Mutation_p.D641N NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 641 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding p.P640T(1) NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GATCGAGAGCGACTCCCCGGA 0.512000 55 16 0 0 1 0 0 ALAS2 212 broad.mit.edu 37 X 55052314 55052314 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:55052314G>A uc004dua.4 - 1 258 c.120C>T c.(118-120)atC>atT p.I40I ALAS2_uc004dub.4_Silent_p.I64I|ALAS2_uc004dud.4_Silent_p.I40I NM_000032 NP_000023 P22557 HEM0_HUMAN Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 40 cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia mitochondrial inner membrane|mitochondrial matrix 5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 Glycine(DB00145) GGGTAGCCAGGATGGGACAGC 0.542000 32 13 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233272081 233272081 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:233272081G>A uc002vss.4 + 2 323 c.270G>A c.(268-270)atG>atA p.M90I NM_031313 NP_112603 P10696 PPBN_HUMAN Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA. 90 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) TCCTGGCCATGGACCGCTTCC 0.572000 65 12 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89413823 89413823 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:89413823G>A uc001pda.3 + 7 1021 c.495G>A c.(493-495)ttG>ttA p.L165L NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN Homo sapiens folate hydrolase 1B (FOLH1B), mRNA. 165 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 TGTACAGCTTGGTATACAACC 0.279000 29 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179581978 179581978 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:179581978C>T uc021vsy.1 - 84 21976 c.21751G>A c.(21751-21753)Gag>Aag p.E7251K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E3912K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 8178 Ig-like 54. 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) GGGCGAATCTCTCGGTTATCT 0.463000 40 25 0 0 1 0 0 SLAMF9 89886 broad.mit.edu 37 1 159923405 159923405 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:159923405C>T uc001fus.3 - 1 202 c.85G>A c.(85-87)Gaa>Aaa p.E29K SLAMF9_uc009wtd.3_Missense_Mutation_p.E29K|SLAMF9_uc001fut.3_Missense_Mutation_p.E29K NM_033438 NP_254273 Q96A28 SLAF9_HUMAN Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA. 29 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GCAACCACTTCCTCGGATCCA 0.532000 94 22 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331787 107331787 + Missense_Mutation SNP G T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr9:107331787G>T uc011lvo.2 + 0 339 c.339G>T c.(337-339)atG>atT p.M113I NM_001004483 NP_001004483 Q8NGS7 O13C8_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA. 113 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C112C(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 CGGAGTGCATGATCTTAGGCA 0.502000 92 23 1.96895e-08 2.0127e-08 1 1 0 CHST7 56548 broad.mit.edu 37 X 46434386 46434386 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:46434386C>T uc022bvm.1 + 0 1020 c.1020C>T c.(1018-1020)ttC>ttT p.F340F CHST7_uc004dgt.3_Silent_p.F340F NM_019886 NP_063939 Q9NS84 CHST7_HUMAN Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7 (CHST7), mRNA. 340 N-acetylglucosamine metabolic process|chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity|chondroitin 6-sulfotransferase activity breast(3)|endometrium(2)|kidney(1)|lung(2) 8 ccgATTTCTTCCTGACCGGTG 0.756000 5 6 0 0 1 0 0 F12 2161 broad.mit.edu 37 5 176831286 176831286 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:176831286C>T uc003mgo.4 - 8 978 c.929G>A c.(928-930)aGg>aAg p.R310K NM_000505 NP_000496 P00748 FA12_HUMAN Homo sapiens coagulation factor XII (Hageman factor) (F12), mRNA. 310 Pro-rich. Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation extracellular space|plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GACATGAAGCCTAGGGGACAC 0.697000 Hereditary Angioedema OREG0017088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 8 0 0 1 0 0 UCN3 114131 broad.mit.edu 37 10 5415704 5415704 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:5415704C>T uc001ihx.1 + 1 245 c.21C>T c.(19-21)ttC>ttT p.F7F NM_053049 NP_444277 Q969E3 UCN3_HUMAN Homo sapiens urocortin 3 (stresscopin) (UCN3), mRNA. 7 extracellular region hormone activity endometrium(1)|large_intestine(1) 2 CGGTCCACTTCCTGCTGCTCC 0.612000 43 115 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551136 248551136 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:248551136C>T uc001iei.1 + 0 227 c.227C>T c.(226-228)aCc>aTc p.T76I NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA. 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TACATCTCCACCATTGTGCCC 0.507000 44 67 0 0 1 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711759 155711759 + Silent SNP A T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:155711759A>T uc002tyv.1 + 2 1635 c.1440A>T c.(1438-1440)ggA>ggT p.G480G KCNJ3_uc010zce.1_3'UTR NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 480 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) TGGCTGGAGGAGCAGCTAGGA 0.423000 31 7 0 0 1 0 0 GIMAP1-GIMAP5 100527949 broad.mit.edu 37 7 150417988 150417988 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:150417988C>T uc003whq.3 + 2 1036 c.896C>T c.(895-897)gCc>gTc p.A299V GIMAP1-GIMAP5_uc022apw.1_Intron NM_130759 NP_570115 Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA. TGGTCGGAGGCCGTTGCGGAG 0.617000 25 21 0 0 1 0 0 WNT9A 7483 broad.mit.edu 37 1 228109473 228109473 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:228109473G>A uc001hri.2 - 3 932 c.844C>T c.(844-846)Ccg>Tcg p.P282S NM_003395 NP_003386 O14904 WNT9A_HUMAN Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA. 282 Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) CGGGGCAGCGGGTCGCTGCCA 0.711000 29 49 0 0 1 0 0 C12orf52 84934 broad.mit.edu 37 12 113629450 113629450 + Missense_Mutation SNP C G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:113629450C>G uc001tur.1 + 3 1106 c.638C>G c.(637-639)cCa>cGa p.P213R NM_032848 NP_116237 Q96K30 RITA_HUMAN Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA. 213 Interaction with tubulin. Notch signaling pathway|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|nuclear export centrosome|nucleus tubulin binding large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1) 5 ACTGGTCATCCAGCCACCAGT 0.607000 60 19 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118772216 118772217 + Missense_Mutation DNP GG AA AA TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr11:118772216_118772217GG>AA uc001pug.3 - 5 3200_3201 c.2235_2236CC>TT c.(2233-2238)ggccgg>ggTTgg p.R746W BCL9L_uc009zal.3_Missense_Mutation_p.R741W NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA. 746 Met-rich. negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) AGGAGGCCCCGGCCTCCACCAA 0.634000 91 36 0 0 1 0 0 HDAC4 9759 broad.mit.edu 37 2 240048223 240048223 + Nonsense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:240048223G>A uc002vyk.4 - 11 2239 c.1447C>T c.(1447-1449)Cag>Tag p.Q483* HDAC4_uc010fyz.1_Nonsense_Mutation_p.Q478*|HDAC4_uc010zoa.1_Nonsense_Mutation_p.Q483*|HDAC4_uc010fza.2_Nonsense_Mutation_p.Q488*|HDAC4_uc010fyy.3_Nonsense_Mutation_p.Q440*|HDAC4_uc010znz.1_Nonsense_Mutation_p.Q366*|HDAC4_uc010fzb.1_Non-coding_Transcript NM_006037 NP_006028 P56524 HDAC4_HUMAN Homo sapiens histone deacetylase 4 (HDAC4), mRNA. 483 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5) 62 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) tgctgctgctgGATGACCAGG 0.647000 13 12 0 0 1 0 0 GPR32 2854 broad.mit.edu 37 19 51274903 51274903 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:51274903C>T uc010ycf.2 + 0 1046 c.1046C>T c.(1045-1047)cCc>cTc p.P349L NM_001506 NP_001497 O75388 GPR32_HUMAN Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA. 349 integral to plasma membrane N-formyl peptide receptor activity p.C348Y(1) breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) TCATCCTGTCCCCGTGGCAAC 0.522000 117 5 0 0 1 0 0 CHERP 10523 broad.mit.edu 37 19 16630476 16630476 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:16630476C>T uc002nei.1 - 15 2587 c.2513G>A c.(2512-2514)aGg>aAg p.R838K MED26_uc002nee.2_Intron|C19orf44_uc002neh.1_Intron|C19orf44_uc010eai.1_Intron|CHERP_uc010xpg.1_Missense_Mutation_p.R377K NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA. 838 RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 TTCTCCGAGCCTTGAGTCAGG 0.532000 155 39 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56531747 56531747 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:56531747C>T uc002qmj.3 + 5 629 c.629C>T c.(628-630)tCa>tTa p.S210L NLRP5_uc002qmi.3_Missense_Mutation_p.S191L NM_153447 NP_703148 P59047 NALP5_HUMAN Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA. 210 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCAGAAATTTCACAAGCTATG 0.408000 25 25 0 0 1 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26233279 26233279 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:26233279C>T uc003sxr.4 - 8 1009 c.793G>A c.(793-795)Gga>Aga p.G265R HNRNPA2B1_uc003sxs.4_Missense_Mutation_p.G253R NM_031243 NP_112533 P22626 ROA2_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA. 265 Gly-rich. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm RNA binding|nucleotide binding|protein binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 CCTCCTCTTCCTCCTCCATAA 0.443000 T ETV1 prostate 89 50 0 0 1 0 0 BCKDHB 594 broad.mit.edu 37 6 80877487 80877487 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:80877487G>A uc003pjd.2 + 3 503 c.436G>A c.(436-438)Gaa>Aaa p.E146K BCKDHB_uc003pje.2_Missense_Mutation_p.E146K NM_000056 NP_898871 P21953 ODBB_HUMAN Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 146 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1) 15 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) TGCCATTGCGGAAATTCAGTT 0.363000 13 20 0 0 1 0 0 ULBP3 79465 broad.mit.edu 37 6 150387045 150387045 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:150387045G>A uc003qns.3 - 1 423 c.342C>T c.(340-342)ttC>ttT p.F114F ULBP3_uc011eej.1_5'Flank|ULBP3_uc011eek.1_Silent_p.F65F NM_024518 NP_078794 Q9BZM4 N2DL3_HUMAN Homo sapiens UL16 binding protein 3 (ULBP3), mRNA. 114 MHC class I alpha-1 like. antigen processing and presentation|immune response|natural killer cell activation MHC class I protein complex|anchored to membrane MHC class I receptor activity central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 9 Ovarian(120;0.12) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.45e-12) CACTGGGTGTGAAATCCTCCA 0.542000 75 24 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131466576 131466576 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:131466576C>T uc010tbm.2 + 5 1113 c.554C>T c.(553-555)tCc>tTc p.S185F GPR133_uc001uit.4_Missense_Mutation_p.S153F NM_198827 NP_942122 Q6QNK2 GP133_HUMAN Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA. 153 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.V184I(1) NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CGGGACAATTCCATGACATGG 0.592000 73 15 0 0 1 0 0 SLC12A5 57468 broad.mit.edu 37 20 44685155 44685155 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:44685155C>T uc010zxl.1 + 22 3207 c.3131C>T c.(3130-3132)cCc>cTc p.P1044L SLC12A5_uc002xrb.2_Missense_Mutation_p.P1021L NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA. 1044 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) AATAAGGGCCCCAGTCCTGTC 0.612000 99 18 0 0 1 0 0 SV2C 22987 broad.mit.edu 37 5 75427918 75427918 + Missense_Mutation SNP G A A rs149119749 by1000genomes TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:75427918G>A uc003kei.1 + 1 477 c.343G>A c.(343-345)Gat>Aat p.D115N NM_014979 NP_055794 Q496J9 SV2C_HUMAN Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA. 115 neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.D115H(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GCCCAAGGGCGATGAGTACAA 0.537000 35 12 0 0 1 0 0 SPATA5 166378 broad.mit.edu 37 4 123868522 123868522 + Silent SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:123868522T>C uc003iez.4 + 8 1666 c.1593T>C c.(1591-1593)gaT>gaC p.D531D SPATA5_uc003iey.3_Silent_p.D530D NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA. 531 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 24 ACCGGCTAGATATTCTCCAGA 0.512000 83 26 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49164710 49164710 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:49164710G>A uc001rsh.4 - 18 3755 c.3095C>T c.(3094-3096)aCg>aTg p.T1032M ADCY6_uc001rsi.4_Missense_Mutation_p.T979M|ADCY6_uc001rsj.4_Missense_Mutation_p.T1032M|ADCY6_uc010slw.1_3'UTR NM_015270 NP_056085 O43306 ADCY6_HUMAN Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA. 1032 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 GCTACCAATCGTCTTGATCTT 0.597000 53 23 0 0 1 0 0 ARHGEF11 9826 broad.mit.edu 37 1 156907218 156907218 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:156907218C>T uc001fqo.3 - 37 5183 c.4143G>A c.(4141-4143)atG>atA p.M1381I ARHGEF11_uc010phu.2_Missense_Mutation_p.M797I|ARHGEF11_uc001fqn.3_Missense_Mutation_p.M1421I|MIR765_uc021pbj.1_5'Flank NM_014784 NP_055599 O15085 ARHGB_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA. 1381 G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction Golgi apparatus|cytosol|plasma membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2) 81 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GAGGGGGGCTCATGGGTGCCT 0.612000 71 89 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181767893 181767893 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:181767893G>A uc009wxt.3 + 47 7060 c.6865G>A c.(6865-6867)Ggg>Agg p.G2289R CACNA1E_uc001gow.3_Missense_Mutation_p.G2246R|CACNA1E_uc009wxs.3_Missense_Mutation_p.G2227R NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2289 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCGGAGGCGCGGGGGGCCTGG 0.642000 36 6 0 0 1 0 0 ZNF800 168850 broad.mit.edu 37 7 127014801 127014801 + Missense_Mutation SNP C G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:127014801C>G uc010lla.2 - 4 1301 c.589G>C c.(589-591)Gag>Cag p.E197Q ZNF800_uc003vlw.1_Missense_Mutation_p.E100Q|ZNF800_uc003vlx.1_Missense_Mutation_p.E197Q|ZNF800_uc003vly.1_Missense_Mutation_p.E197Q NM_176814 NP_789784 Q2TB10 ZN800_HUMAN Homo sapiens zinc finger protein 800 (ZNF800), mRNA. 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 GTAACAATCTCAACAGGAGGG 0.443000 155 18 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69104733 69104733 + Missense_Mutation SNP T C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:69104733T>C uc003xxv.1 + 36 4604 c.4577T>C c.(4576-4578)aTc>aCc p.I1526T NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 1526 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding p.I1526I(1) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 GCCTGCCACATCATCATGTGC 0.522000 37 8 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7674161 7674161 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:7674161G>A uc002giu.1 + 25 4286 c.4272G>A c.(4270-4272)aaG>aaA p.K1424K NM_020877 NP_065928 Q9P225 DYH2_HUMAN Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA. 1424 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCTTTGAGAAGGATGTGGACC 0.493000 117 39 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109384360 109384360 + Silent SNP G C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:109384360G>C uc002tem.4 + 19 7491 c.7365G>C c.(7363-7365)cgG>cgC p.R2455R NM_006267 NP_006258 P49792 RBP2_HUMAN Homo sapiens RAN binding protein 2 (RANBP2), mRNA. 2455 carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 ATGTTTCTCGGTCAAGCACTC 0.398000 258 62 0 0 1 0 0 HIST1H4I 8294 broad.mit.edu 37 6 27107294 27107294 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr6:27107294C>T uc003niy.1 + 0 207 c.207C>T c.(205-207)gaC>gaT p.D69D HIST1H2BK_uc003nix.2_Intron NM_003495 NP_778224 P62805 H4_HUMAN Homo sapiens histone cluster 1, H4i (HIST1H4I), mRNA. 69 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 TGATCCGGGACGCCGTGACCT 0.657000 T BCL6 NHL 90 42 0 0 1 0 0 KCNA7 3743 broad.mit.edu 37 19 49573937 49573937 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:49573937G>A uc002pmg.3 - 1 1110 c.754C>T c.(754-756)Ccc>Tcc p.P252S NM_031886 NP_114092 Q96RP8 KCNA7_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA. 252 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) ACAAAGTAGGGAAGGATAGCC 0.567000 93 37 0 0 1 0 0 ZNF486 90649 broad.mit.edu 37 19 20295164 20295164 + Splice_Site SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:20295164G>A uc002nou.2 + 2 88 c.31_splice c.e2-1 p.E11_splice NM_052852 NP_443084 Q96H40 ZN486_HUMAN Homo sapiens zinc finger protein 486 (ZNF486), mRNA. 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 11 GTGTTTTTCAGGAATCATTGC 0.393000 262 63 0 0 1 0 0 WDR59 79726 broad.mit.edu 37 16 74923643 74923643 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:74923643G>A uc002fdh.1 - 20 2255 c.2153C>T c.(2152-2154)cCc>cTc p.P718L WDR59_uc002fdf.1_Missense_Mutation_p.P163L|WDR59_uc002fdg.1_Missense_Mutation_p.P310L NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN Homo sapiens WD repeat domain 59 (WDR59), mRNA. 718 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 TCGAGCCCAGGGTGTTTCCAA 0.463000 61 17 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47364117 47364118 + Missense_Mutation DNP GG AA AA TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr18:47364117_47364118GG>AA uc002leb.2 - 36 5195_5196 c.4907_4908CC>TT c.(4906-4908)acc>aTT p.T1636I MYO5B_uc002ldz.3_Missense_Mutation_p.T206I|MYO5B_uc002lea.2_Missense_Mutation_p.T751I NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 1636 Dilute. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) TCCGGTAGCCGGTGGGCTTCAC 0.485000 42 55 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3306552 3306552 + Silent SNP G T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:3306552G>T uc002cun.1 - 0 76 c.36C>A c.(34-36)acC>acA p.T12T MEFV_uc021tbw.1_Silent_p.T12T|MEFV_uc021tbx.1_5'UTR|MEFV_uc021tby.1_5'UTR|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_5'UTR NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 12 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GCTCCTCCAGGGTGGACAGCA 0.572000 44 65 3.28615e-30 3.53185e-30 1 1 0 CAMKMT 79823 broad.mit.edu 37 2 44999183 44999183 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:44999183G>A uc002rum.2 + 10 1007 c.903G>A c.(901-903)aaG>aaA p.K301K NM_024766 NP_079042 Q7Z624 CMKMT_HUMAN Homo sapiens calmodulin-lysine N-methyltransferase (CAMKMT), mRNA. 301 cytoplasm calmodulin-lysine N-methyltransferase activity breast(2)|large_intestine(3)|lung(5) 10 AGTTGAAAAAGGAAAACCCGG 0.343000 58 10 0 0 1 0 0 TMEM173 340061 broad.mit.edu 37 5 138860786 138860786 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:138860786G>A uc003lep.3 - 3 671 c.369C>T c.(367-369)ctC>ctT p.L123L NM_198282 NP_938023 Q86WV6 TM173_HUMAN Homo sapiens transmembrane protein 173 (TMEM173), nuclear gene encoding mitochondrial protein, mRNA. 123 activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGAGGCCCAGGAGGGCAAGCA 0.627000 70 26 0 0 1 0 0 ADAM15 8751 broad.mit.edu 37 1 155026807 155026807 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:155026807C>T uc001fgr.1 + 5 538 c.437C>T c.(436-438)aCc>aTc p.T146I LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'UTR|ADAM15_uc009wpc.1_Non-coding_Transcript|ADAM15_uc010pet.1_Missense_Mutation_p.T130I|ADAM15_uc010peu.1_Missense_Mutation_p.T163I|ADAM15_uc001fgx.1_Missense_Mutation_p.T146I|ADAM15_uc001fgz.1_Non-coding_Transcript|ADAM15_uc001fgy.1_Non-coding_Transcript|ADAM15_uc001fha.1_Non-coding_Transcript|ADAM15_uc001fgt.1_Missense_Mutation_p.T146I|ADAM15_uc001fgs.1_Missense_Mutation_p.T146I|ADAM15_uc010pev.1_Missense_Mutation_p.T156I|ADAM15_uc001fgu.1_Missense_Mutation_p.T146I|ADAM15_uc001fgv.1_Missense_Mutation_p.T146I|ADAM15_uc001fgw.1_Missense_Mutation_p.T146I NM_207197 NP_997080 Q13444 ADA15_HUMAN Homo sapiens ADAM metallopeptidase domain 15 (ADAM15), transcript variant 6, mRNA. 146 angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane SH3 domain binding|metalloendopeptidase activity|zinc ion binding NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1) 39 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) GTGGTCCTGACCCCAGAGAGA 0.522000 127 23 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140277662 140277662 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:140277662C>T uc003etn.3 + 11 2194 c.2004C>T c.(2002-2004)ttC>ttT p.F668F NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 668 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 TGAGCACCTTCGCCAAAACCG 0.532000 HNSCC(16;0.037) 68 18 0 0 1 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31654675 31654675 + Missense_Mutation SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr21:31654675A>C uc002ynv.3 - 0 602 c.576T>G c.(574-576)tgT>tgG p.C192W NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA. 192 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 TGGAAATATAACATAATGGTG 0.418000 66 22 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9546683 9546684 + Missense_Mutation DNP CC TT TT TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr20:9546683_9546684CC>TT uc002wnl.2 - 5 1883_1884 c.1338_1339GG>AA c.(1336-1341)agggaa>agAAaa p.E447K PAK7_uc002wnk.2_Missense_Mutation_p.E447K|PAK7_uc002wnj.2_Missense_Mutation_p.E447K|PAK7_uc010gby.1_Missense_Mutation_p.E447K NM_020341 NP_817127 Q9P286 PAK7_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA. 447 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GCCAAGTATTCCCTGGGGTCTC 0.584000 94 48 0 0 1 0 0 C8orf4 56892 broad.mit.edu 37 8 40011172 40011172 + Missense_Mutation SNP G A A rs35273913 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr8:40011172G>A uc003xnq.2 + 0 186 c.121G>A c.(121-123)Gaa>Aaa p.E41K NM_020130 NP_064515 Q9NR00 CH004_HUMAN Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA. 41 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) CAACATCTTTGAAAACACAGA 0.483000 29 45 0 0 1 0 0 DNER 92737 broad.mit.edu 37 2 230377642 230377642 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:230377642G>A uc002vpv.3 - 5 1151 c.1004C>T c.(1003-1005)tCc>tTc p.S335F DNER_uc010zly.1_Missense_Mutation_p.S63F NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 335 EGF-like 3. Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) ACAGGTACAGGAAAAAGTTGC 0.438000 41 8 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917423 48917423 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:48917423C>T uc002isv.4 + 1 1468 c.774C>T c.(772-774)aaC>aaT p.N258N WFIKKN2_uc010dbu.3_Silent_p.N165N NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA. 258 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) TGCGGCCCAACCATGTGCGTG 0.607000 67 21 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125900207 125900207 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:125900207C>T uc001uhe.1 + 2 1083 c.1075C>T c.(1075-1077)Ccg>Tcg p.P359S TMEM132B_uc021rgl.1_Missense_Mutation_p.P249S NM_052907 NP_443139 Q14DG7 T132B_HUMAN Homo sapiens transmembrane protein 132B (TMEM132B), mRNA. 359 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GGGCCATCGCCCGGACACGCA 0.592000 71 6 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23526679 23526679 + Missense_Mutation SNP G T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:23526679G>T uc003jgo.3 + 10 1664 c.1482G>T c.(1480-1482)atG>atT p.M494I NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN Homo sapiens PR domain containing 9 (PRDM9), mRNA. 494 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding 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 AAAGAATAATGGAAGAAGAGT 0.443000 HNSCC(3;0.000094) 61 26 3.28513e-13 3.41891e-13 1 1 0 TCRA 0 broad.mit.edu 37 14 23016520 23016520 + Missense_Mutation SNP C G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:23016520C>G uc001wbw.2 + 3 489 c.480C>G c.(478-480)ttC>ttG p.F160L TCRA_uc001wco.3_Non-coding_Transcript|TCRA_uc010aje.1_3'UTR|TCRA_uc001wcp.2_Missense_Mutation_p.F158L|TCRA_uc001wcr.1_3'UTR|TCRA_uc001wcs.1_3'UTR|TCRA_uc010ajf.1_Missense_Mutation_p.F117L|TCRA_uc001wcx.4_Non-coding_Transcript|TCRA_uc021rpr.1_Missense_Mutation_p.F60L|TCRA_uc001wde.1_3'UTR|TCRA_uc010ajk.2_Missense_Mutation_p.F155L|TCRA_uc001wdg.1_Missense_Mutation_p.F73L|TCRA_uc021rpt.1_Missense_Mutation_p.F70L|TCRA_uc010ajo.1_Missense_Mutation_p.F129L|TCRA_uc010ajp.1_Missense_Mutation_p.F155L|TCRA_uc001wdv.4_Missense_Mutation_p.F86L|TCRA_uc001wec.3_Missense_Mutation_p.F45L|TCRA_uc001wee.4_5'UTR|TCRA_uc010tmt.1_Non-coding_Transcript|TCRA_uc010ajv.1_Non-coding_Transcript|TCRA_uc001weg.2_5'UTR|TCRA_uc001wei.3_5'UTR|TCRA_uc001wej.3_5'UTR|TCRA_uc001wek.3_Missense_Mutation_p.F31L|TCRA_uc001wel.3_5'UTR|TCRA_uc001wem.4_5'UTR|TCRA_uc001wen.2_Non-coding_Transcript|TCRA_uc001weo.2_5'UTR|TCRA_uc001wep.3_5'UTR|TCRA_uc001weq.3_Missense_Mutation_p.F38L|TCRA_uc021rqa.1_Non-coding_Transcript|TCRA_uc021rqb.1_5'UTR|TCRA_uc001wet.3_5'UTR|TCRA_uc001weu.3_5'UTR|TCRA_uc001wev.3_Missense_Mutation_p.F39L|TCRA_uc010tmv.2_Non-coding_Transcript|TCRA_uc001wez.2_Non-coding_Transcript|TCRA_uc010ajx.1_5'UTR|TCRA_uc001wfb.2_Non-coding_Transcript|TCRA_uc021rqh.1_Non-coding_Transcript|TCRA_uc001wfd.1_5'UTR|TCRA_uc001wfe.3_Missense_Mutation_p.F46L|TCRA_uc001wfg.2_Non-coding_Transcript|TCRA_uc001wfh.1_Missense_Mutation_p.F37L|TCRA_uc001wfi.2_Non-coding_Transcript|TCRA_uc001wfk.3_5'UTR|TCRA_uc010ajy.2_5'UTR|TCRA_uc001wfn.3_5'UTR|TCRA_uc001wfp.3_5'UTR|TCRA_uc001wfq.2_5'UTR|TCRA_uc001wfr.1_Non-coding_Transcript|TCRA_uc010ajz.1_Non-coding_Transcript|TCRA_uc001wfs.2_Non-coding_Transcript|TCRA_uc001wft.2_5'UTR|TCRA_uc001wfv.2_5'UTR|TCRA_uc001wfw.1_5'UTR|TCRA_uc001wfx.3_5'UTR|TCRA_uc001wfy.2_Missense_Mutation_p.F31L|TCRA_uc001wfz.1_Non-coding_Transcript|TCRA_uc001wgc.2_Missense_Mutation_p.F44L|TCRA_uc021rqo.1_Missense_Mutation_p.F31L|TCRA_uc001wge.4_5'UTR|TCRA_uc021rqp.1_5'UTR|TCRA_uc010tmw.2_5'UTR|TCRA_uc010tmx.2_5'UTR|TCRA_uc010tmy.2_Non-coding_Transcript|TCRA_uc001wgh.3_5'UTR|TCRA_uc001wgi.2_Non-coding_Transcript|TCRA_uc001wgj.1_5'UTR|TCRA_uc001wgk.3_5'UTR SubName: Full=Alpha-chain C region; Flags: Fragment; TCTGCCTATTCACCGATTTTG 0.443000 143 44 0 0 1 0 0 PKD2L2 27039 broad.mit.edu 37 5 137235267 137235267 + Missense_Mutation SNP G C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:137235267G>C uc003lby.3 + 4 643 c.587G>C c.(586-588)cGa>cCa p.R196P PKD2L2_uc010jep.1_Missense_Mutation_p.R136P|PKD2L2_uc003lbw.1_Missense_Mutation_p.R196P|PKD2L2_uc003lbx.3_Missense_Mutation_p.R196P|PKD2L2_uc011cyi.1_5'UTR NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA. 196 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGTGTTTACCGAAATGGGGGA 0.383000 44 18 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41160444 41160444 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:41160444C>T uc003jmk.2 - 10 1694 c.1484G>A c.(1483-1485)aGa>aAa p.R495K C6_uc003jml.1_Missense_Mutation_p.R495K NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 495 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) GGGGATGTTTCTTACCAAGTC 0.502000 79 52 0 0 1 0 0 TLE3 7090 broad.mit.edu 37 15 70358493 70358493 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr15:70358493G>A uc002asl.2 - 5 753 c.452C>T c.(451-453)cCc>cTc p.P151L TLE3_uc002ask.2_Missense_Mutation_p.P90L|TLE3_uc010ukd.1_Missense_Mutation_p.P139L|TLE3_uc010bil.1_Missense_Mutation_p.P146L|TLE3_uc002asn.2_Missense_Mutation_p.P146L|TLE3_uc002asm.2_Missense_Mutation_p.P146L|TLE3_uc002asp.2_Missense_Mutation_p.P146L|TLE3_uc002aso.2_Missense_Mutation_p.P146L|TLE3_uc010bim.1_Non-coding_Transcript NM_001105192 NP_001098662 Q04726 TLE3_HUMAN Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA. 146 Gly/Pro-rich. Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGACGGGTGGGGTGGCAACTG 0.677000 25 8 0 0 1 0 0 ANXA10 11199 broad.mit.edu 37 4 169049306 169049306 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:169049306C>T uc003irm.3 + 1 254 c.90C>T c.(88-90)ctC>ctT p.L30L NM_007193 NP_009124 Q9UJ72 ANX10_HUMAN Homo sapiens annexin A10 (ANXA10), mRNA. 30 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) GAGGAGCACTCCAAGGATTTG 0.373000 39 6 0 0 1 0 0 DNAJC21 134218 broad.mit.edu 37 5 34933922 34933922 + Nonsense_Mutation SNP A T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:34933922A>T uc003jjb.3 + 1 327 c.100A>T c.(100-102)Aaa>Taa p.K34* DNAJC21_uc003jjc.3_Nonsense_Mutation_p.K34*|DNAJC21_uc010iuu.1_5'Flank NM_194283 NP_919259 Q5F1R6 DJC21_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA. 34 J. protein folding ribosome heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 21 all_lung(31;7.08e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) TTTAACAGATAAAAATCTGGA 0.378000 24 31 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9090567 9090567 + Silent SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr19:9090567C>T uc002mkp.3 - 0 1452 c.1248G>A c.(1246-1248)gaG>gaA p.E416E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 416 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 TGTTGGTCTCCTCTGAGACTA 0.502000 81 19 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75095266 75095266 + Missense_Mutation SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:75095266T>G uc009xrc.3 - 7 930 c.809A>C c.(808-810)aAt>aCt p.N270T TTC18_uc001jty.3_Missense_Mutation_p.N270T|TTC18_uc009xrd.1_Missense_Mutation_p.N78T NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA. 270 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) CTCTGCTTGATTCCTAAATTC 0.403000 14 12 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39596836 39596836 + Missense_Mutation SNP T G G TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr17:39596836T>G uc002hwq.1 - 0 761 c.338A>C c.(337-339)gAc>gCc p.D113A NM_006771 NP_006762 O76015 KRT38_HUMAN Homo sapiens keratin 38 (KRT38), mRNA. 113 Coil 1A.|Rod. D -> G (in Ref. 6; CAH10351). intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) GGCCAGGCGGTCATTCAGGAA 0.587000 61 72 0 0 1 0 0 ASB5 140458 broad.mit.edu 37 4 177142371 177142371 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr4:177142371C>T uc003iuq.2 - 4 719 c.605G>A c.(604-606)gGa>gAa p.G202E ASB5_uc003iup.2_Missense_Mutation_p.G149E NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA. 202 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) GAGAGGAGTTCCCAAATGAGG 0.403000 28 31 0 0 1 0 0 EIF2C4 192670 broad.mit.edu 37 1 36282581 36282581 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:36282581C>T uc001bzj.2 + 1 308 c.118C>T c.(118-120)Cct>Tct p.P40S NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA. 40 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol RNA binding|protein binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGTTCAGATTCCTAAAATAGA 0.433000 66 24 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46246591 46246591 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr12:46246591C>T uc001ros.1 + 14 4685 c.4685C>T c.(4684-4686)cCa>cTa p.P1562L ARID2_uc001ror.3_Missense_Mutation_p.P1562L|ARID2_uc009zkg.1_Missense_Mutation_p.P1018L|ARID2_uc009zkh.1_Missense_Mutation_p.P1189L|ARID2_uc001rou.1_Missense_Mutation_p.P896L NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 1562 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GGAGCAGATCCAAGCACTGTA 0.453000 """N, S, F""" hepatocellular carcinoma 65 11 0 0 1 0 0 DSTYK 25778 broad.mit.edu 37 1 205129291 205129291 + Missense_Mutation SNP G C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:205129291G>C uc001hbw.3 - 7 2120 c.2056C>G c.(2056-2058)Cca>Gca p.P686A DSTYK_uc001hbx.3_Missense_Mutation_p.P686A|DSTYK_uc001hby.1_Missense_Mutation_p.P147A NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA. 686 Protein kinase. cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2) 14 TTCTCATCTGGAGGGACAACT 0.493000 194 50 0 0 1 0 0 TDRD5 163589 broad.mit.edu 37 1 179660033 179660033 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:179660033G>A uc010pnp.2 + 17 3581 c.3063G>A c.(3061-3063)agG>agA p.R1021R TDRD5_uc021pfm.1_Silent_p.R967R|TDRD5_uc001gnf.2_Silent_p.R967R|TDRD5_uc021pfn.1_Silent_p.R1021R|TDRD5_uc001gnh.2_Silent_p.R522R NM_001199085 NP_001186014 Q8NAT2 TDRD5_HUMAN Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA. 967 DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 CTACATCCAGGAGCCTCCTAC 0.512000 58 16 0 0 1 0 0 NHSL2 340527 broad.mit.edu 37 X 71359783 71359783 + Silent SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chrX:71359783G>A uc011mqa.2 + 5 2385 c.2385G>A c.(2383-2385)aaG>aaA p.K795K NHSL2_uc004eak.1_Silent_p.K429K|NHSL2_uc010nli.2_Silent_p.K564K NM_001013627 NP_001013649 F5H593 F5H593_HUMAN Homo sapiens NHS-like 2 (NHSL2), mRNA. 795 NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1) 28 Renal(35;0.156) GCAAAACTAAGGTGAGTCGGC 0.488000 20 11 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47703538 47703538 + Nonsense_Mutation SNP C T T rs63749932 TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr2:47703538C>T uc002rvy.1 + 12 2106 c.2038C>T c.(2038-2040)Cga>Tga p.R680* MSH2_uc010yoh.1_Nonsense_Mutation_p.R614*|MSH2_uc002rvz.3_Nonsense_Mutation_p.R680*|MSH2_uc010fbg.2_Nonsense_Mutation_p.R490* NM_000251 NP_000242 P43246 MSH2_HUMAN Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA. 680 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding p.R680*(8)|p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AACATATATTCGACAAACTGG 0.398000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 44 17 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111685471 111685471 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:111685471C>T uc010hqa.3 + 13 3500 c.3089C>T c.(3088-3090)tCa>tTa p.S1030L PHLDB2_uc003dyc.3_Missense_Mutation_p.S1014L|PHLDB2_uc003dyd.3_Missense_Mutation_p.S987L|PHLDB2_uc003dyg.3_Missense_Mutation_p.S1030L|PHLDB2_uc003dyh.3_Missense_Mutation_p.S987L|PHLDB2_uc003dyi.3_Missense_Mutation_p.S521L|PHLDB2_uc003dyj.3_Missense_Mutation_p.S85L NM_001134438 NP_001127911 Q86SQ0 PHLB2_HUMAN Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA. 1030 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GCCAGCACTTCAAATATTGCT 0.423000 134 22 0 0 1 0 0 C7orf29 113763 broad.mit.edu 37 7 150027740 150027740 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr7:150027740G>A uc003wgy.3 + 0 803 c.247G>A c.(247-249)Ggg>Agg p.G83R LRRC61_uc003wgv.3_Intron|LRRC61_uc003wgx.3_Intron|LRRC61_uc003wgw.3_Intron NM_138434 NP_612443 Q96FA7 CG029_HUMAN Homo sapiens chromosome 7 open reading frame 29 (C7orf29), mRNA. 83 endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 OV - Ovarian serous cystadenocarcinoma(82;0.011) TTGCTTCAAGGGGAAGATTGA 0.567000 213 41 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196675080 196675080 + Missense_Mutation SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:196675080A>C uc003fxh.3 - 2 835 c.688T>G c.(688-690)Ttt>Gtt p.F230V NM_025163 NP_079439 Q86VD9 PIGZ_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA. 230 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) AAGGCCAGAAAGGTGGGCCGG 0.652000 126 18 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175087712 175087712 + Missense_Mutation SNP A C C TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:175087712A>C uc001gkl.1 + 10 2515 c.2402A>C c.(2401-2403)cAa>cCa p.Q801P NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 801 Fibronectin type-III 7. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GACAGCCCCCAAAACCTGGTC 0.517000 121 27 0 0 1 0 0 BCL11B 64919 broad.mit.edu 37 14 99723868 99723868 + Missense_Mutation SNP C T T TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr14:99723868C>T uc001yga.3 - 1 634 c.367G>A c.(367-369)Gaa>Aaa p.E123K BCL11B_uc001ygb.3_Missense_Mutation_p.E123K NM_138576 NP_612808 Q9C0K0 BC11B_HUMAN Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA. 123 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TGGTCATCTTCGTCGGGGGTG 0.607000 T TLX3 T-ALL 176 33 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156640955 156640955 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr1:156640955G>A uc001fpq.3 - 3 3158 c.3025C>T c.(3025-3027)Cca>Tca p.P1009S NES_uc021pbh.1_5'Flank NM_006617 NP_006608 P48681 NEST_HUMAN Homo sapiens nestin (NES), mRNA. 1009 Tail. G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCCTCGCCTGGGATCCAGACC 0.627000 494 99 0 0 1 0 0 PRLR 5618 broad.mit.edu 37 5 35065441 35065441 + Missense_Mutation SNP G A A TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr5:35065441G>A uc003jjm.3 - 9 2178 c.1619C>T c.(1618-1620)cCt>cTt p.P540L PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.P439L|PRLR_uc021xxl.1_Silent_p.S349S NM_000949 NP_000940 P16471 PRLR_HUMAN Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA. 540 T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) ATTGTTCTCAGGAGTCCCGGG 0.473000 55 19 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151148114 151148116 + In_Frame_Del DEL CAG - - TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr3:151148114_151148116delCAG uc003eyp.3 + 41 6460_6462 c.6331_6333delCAG c.(6331-6333)cagdel p.Q2115del MED12L_uc011bnz.2_In_Frame_Del_p.Q1779del NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 2115 Gln-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.Q2111E(1) NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCAGCAGACCCAGCAGCAGCAGC 0.527 --- 197 --- --- 7 --- ANK3 288 broad.mit.edu 37 10 61846476 61846484 + In_Frame_Del DEL CCTTTGTAT - - TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr10:61846476_61846484delCCTTTGTAT uc001jky.3 - 29 4037_4045 c.3699_3707delATACAAAGG c.(3697-3708)ggatacaaaggg>ggg p.1233_1236GYKG>G ANK3_uc001jkw.3_In_Frame_Del_p.367_370GYKG>G|ANK3_uc009xpa.3_In_Frame_Del_p.367_370GYKG>G|ANK3_uc001jkx.3_In_Frame_Del_p.411_414GYKG>G|ANK3_uc010qih.2_In_Frame_Del_p.1234_1237GYKG>G|ANK3_uc001jkz.4_In_Frame_Del_p.1227_1230GYKG>G|ANK3_uc001jla.1_In_Frame_Del_p.299_302GYKG>G|ANK3_uc001jlb.1_In_Frame_Del_p.751_754GYKG>G NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1233 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 TGTAGTGTCCCCTTTGTATCCATTGGATA 0.450 --- 52 --- --- 22 --- RB1 5925 broad.mit.edu 37 13 48919262 48919262 + Frame_Shift_Del DEL A - - TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr13:48919262delA uc001vcb.3 + 3 593 c.427delA c.(427-429)aaafs p.K143fs RB1_uc010acs.1_Intron NM_000321 NP_000312 P06400 RB_HUMAN Homo sapiens retinoblastoma 1 (RB1), mRNA. 143 G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation PML body|Rb-E2F complex|SWI/SNF complex|chromatin DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TACCAGTACCAAAGTTGATAA 0.284 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) --- 28 --- --- 19 --- RPL2B 0 broad.mit.edu 37 16 436840 436840 + Frame_Shift_Del DEL G - - TCGA-EB-A553-01A-12D-A27K-08 TCGA-EB-A553-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx c64d2786-dc8b-4c5a-b68c-7a9a56db67e6 113c7046-00b1-439c-b7a3-467b16a02026 g.chr16:436840delG uc002cgx.3 + 0 178 c.150delG c.(148-150)aagfs p.K50fs LOC100134368_uc002cgw.1_Intron SubName: Full=Putative uncharacterized protein; AGGCCAAGAAGGCAGCGTTGA 0.532 --- 47 --- --- 48 ---